The MalaCard for "macrocephaly" has been retired.
Searching MalaCards for entries containing "macrocephaly"
Searching MalaCards for entries containing "macrocephaly"
461 hits were found for 'macrocephaly'
| # | F | MCID | Name | MIFTS | Score |
|---|---|---|---|---|---|
| 1 | MCR030 | Macrocephaly Mesodermal Hamartoma Spectrum | 2.0 | 3.526 | |
| 2 | MCR096 | Macrocephaly/autism Syndrome | 5.0 | 3.526 | |
| 3 | BNN001 | Bannayan-riley-ruvalcaba Syndrome | 42.0 | 3.110 | |
| 4 | DND011 | Dandy-walker Malformation with Mental Retardation, Macrocephaly, Myopia and Brachytelephalangy | 2.0 | 3.098 | |
| 5 | MCR033 | Macrocephaly-capillary Malformation | 6.3 | 3.085 | |
| 6 | MCR021 | Macrocephaly with Multiple Epiphyseal Dysplasia and Distinctive Facies | 6.0 | 3.070 | |
| 7 | MCR031 | Macrocephaly, Benign Familial | 2.6 | 3.053 | |
| 8 | MCR095 | Macrocephaly, Alopecia, Cutis Laxa, and Scoliosis | 12.4 | 3.053 | |
| 9 | MNT040 | Mental Retardation, Macrocephaly, Short Stature and Craniofacial Dysmorphism | 4.0 | 2.570 | |
| 10 | MMS001 | Momo Syndrome | 4.6 | 2.558 | |
| 11 | MNT020 | Mental Retardation Macrocephaly Coarse Facies Hypotonia | 3.0 | 2.558 | |
| 12 | DND008 | Dandy-walker Malformation Associated with Macrocephaly, Facial Anomalies, Developmental Delay, and Brain Stem Dysgenesis | 7.6 | 2.544 | |
| 13 | PRT008 | Proteus Syndrome | 45.9 | 2.530 | |
| 14 | BGT001 | Bagatelle Cassidy Syndrome | 2.0 | 2.493 | |
| 15 | MCR032 | Macrocephaly, Mental Retardation, Short Stature, Spastic Paraplegia and Cns Malformations | 1.0 | 2.493 | |
| 16 | VTR012 | Vater Association with Macrocephaly and Ventriculomegaly | 7.6 | 2.493 | |
| 17 | MNT058 | Mental Retardation, X-linked, Syndromic, Turner Type | 10.0 | 1.840 | |
| 18 | MCD001 | Mac Dermot Winter Syndrome | 3.6 | 1.789 | |
| 19 | CLR029 | Clark-baraitser Syndrome | 1.0 | 1.763 | |
| 20 | c | FCS008 | Fucosidosis Type 1 | 2.6 | 1.763 |
| 21 | KNS002 | Kniest Like Dysplasia Lethal | 2.0 | 1.763 | |
| 22 | ZRS001 | Zori Stalker Williams Syndrome | 2.0 | 1.763 | |
| 23 | ADS002 | Adie Syndrome | 29.8 | 0.099 | |
| 24 | AMN003 | Amnestic Disorder | 25.2 | 0.093 | |
| 25 | PRN023 | Prion Disease | 78.3 | 0.093 | |
| 26 | SBC012 | Subcorneal Pustular Dermatosis | 38.3 | 0.093 | |
| 27 | MNT004 | Mental Retardation Syndrome | 42.6 | 0.076 | |
| 28 | FGS001 | Fg Syndrome | 39.2 | 0.070 | |
| 29 | ABD008 | Abidi X-linked Mental Retardation Syndrome | 16.7 | 0.062 | |
| 30 | ALL001 | Allan-herndon-dudley Syndrome | 46.0 | 0.062 | |
| 31 | ANR014 | Aniridia Mental Retardation Syndrome | 13.5 | 0.062 | |
| 32 | ATS007 | Autism Spectrum Disorder | 69.3 | 0.062 | |
| 33 | BRC059 | Brachydacytly-mental Retardation Syndrome | 17.3 | 0.062 | |
| 34 | CFF002 | Coffin-lowry Syndrome | 59.3 | 0.062 | |
| 35 | DND001 | Dandy-walker Syndrome | 35.5 | 0.062 | |
| 36 | DND004 | Dandy-walker Malformation | 26.4 | 0.062 | |
| 37 | DYS043 | Dysmorphism Abnormal Vocalization Mental Retardation | 13.5 | 0.062 | |
| 38 | FGS004 | Fg Syndrome 4 | 21.0 | 0.062 | |
| 39 | HYP229 | Hypospadias Mental Retardation Goldblatt Type | 15.3 | 0.062 | |
| 40 | INT063 | Intellectual Disability | 63.6 | 0.062 | |
| 41 | INT105 | Intellectual Disability Multi-gene Panels | 13.8 | 0.062 | |
| 42 | LBS001 | Lubs X-linked Mental Retardation Syndrome | 20.6 | 0.062 | |
| 43 | LJN002 | Lujan Syndrome | 20.2 | 0.062 | |
| 44 | MNT003 | Mental Retardation in Cri-du-chat Syndrome | 19.5 | 0.062 | |
| 45 | MNT005 | Mental Retardation-skeletal Dysplasia | 5.0 | 0.062 | |
| 46 | MNT008 | Mental Retardation Anophthalmia Craniosynostosis | 13.4 | 0.062 | |
| 47 | MNT009 | Mental Retardation Arachnodactyly Hypotonia Telangiectasia | 4.0 | 0.062 | |
| 48 | MNT010 | Mental Retardation Athetosis Microphthalmia | 3.0 | 0.062 | |
| 49 | MNT011 | Mental Retardation Cataracts Calcified Pinnae Myopathy | 3.0 | 0.062 | |
| 50 | MNT012 | Mental Retardation Coloboma Slimness | 3.0 | 0.062 | |
| 51 | MNT013 | Mental Retardation Dysmorphism Hypogonadism Diabetes | 3.0 | 0.062 | |
| 52 | MNT014 | Mental Retardation Epilepsy | 26.6 | 0.062 | |
| 53 | MNT015 | Mental Retardation Epilepsy Bulbous Nose | 4.0 | 0.062 | |
| 54 | MNT016 | Mental Retardation Gynecomastia Obesity X-linked | 3.0 | 0.062 | |
| 55 | MNT017 | Mental Retardation Hip Luxation G6pd Variant | 3.0 | 0.062 | |
| 56 | MNT018 | Mental Retardation Hypocupremia Hypobetalipoproteinemia | 3.0 | 0.062 | |
| 57 | MNT019 | Mental Retardation Hypotonia Skin Hyperpigmentation | 4.0 | 0.062 | |
| 58 | MNT021 | Mental Retardation Microcephaly Phalangeal Facial | 3.0 | 0.062 | |
| 59 | MNT022 | Mental Retardation Microcephaly Unusual Facies | 3.0 | 0.062 | |
| 60 | MNT024 | Mental Retardation Progressive Spasticity | 6.0 | 0.062 | |
| 61 | MNT025 | Mental Retardation Short Stature Deafness Genital | 4.0 | 0.062 | |
| 62 | MNT026 | Mental Retardation Short Stature Microcephaly Eye | 4.0 | 0.062 | |
| 63 | MNT027 | Mental Retardation Skeletal Dysplasia Abducens Palsy | 6.6 | 0.062 | |
| 64 | MNT028 | Mental Retardation Smith Fineman Myers Type | 5.6 | 0.062 | |
| 65 | MNT030 | Mental Retardation Syndrome, Belgian Type | 4.0 | 0.062 | |
| 66 | MNT032 | Mental Retardation X-linked Borderline Maoa Metabolism Anomaly | 3.0 | 0.062 | |
| 67 | MNT033 | Mental Retardation X-linked Dysmorphism | 3.0 | 0.062 | |
| 68 | c | MNT035 | Mental Retardation X-linked Syndromic 7 | 6.3 | 0.062 |
| 69 | MNT036 | Mental Retardation X-linked with Cerebellar Hypoplasia and Distinctive Facial Appearance | 21.8 | 0.062 | |
| 70 | MNT037 | Mental Retardation X-linked, South African Type | 4.0 | 0.062 | |
| 71 | MNT038 | Mental Retardation, Epileptic Seizures, Hypogonadism and Hypogenitalism, Microcephaly, and Obesity | 6.0 | 0.062 | |
| 72 | MNT039 | Mental Retardation, Keratoconus, Febrile Seizures, and Sinoatrial Block | 3.0 | 0.062 | |
| 73 | c | MNT041 | Mental Retardation, X-linked 14 | 5.6 | 0.062 |
| 74 | P | MNT042 | Mental Retardation, X-linked, Nonspecific | 29.2 | 0.062 |
| 75 | c | MNT043 | Mental Retardation-hypotonic Facies Syndrome X-linked, 1 | 9.5 | 0.062 |
| 76 | MNT044 | Mental Retardation-polydactyly-uncombable Hair | 3.0 | 0.062 | |
| 77 | MNT046 | Mental Retardation and Microcephaly with Pontine and Cerebellar Hypoplasia | 20.5 | 0.062 | |
| 78 | MNT047 | Mental Retardation Syndromes, Idiopathic | 6.0 | 0.062 | |
| 79 | c | MNT048 | Mental Retardation, Autosomal Dominant 1 | 12.5 | 0.062 |
| 80 | c | MNT049 | Mental Retardation, Autosomal Dominant 5 | 8.0 | 0.062 |
| 81 | c | MNT050 | Mental Retardation, Autosomal Dominant 9 | 5.0 | 0.062 |
| 82 | P | MNT051 | Mental Retardation, Autosomal Recessive 7 | 17.5 | 0.062 |
| 83 | MNT052 | Mental Retardation, Nonsyndromic | 7.6 | 0.062 | |
| 84 | MNT053 | Mental Retardation, Stereotypic Movements, Epilepsy, and/or Cerebral Malformations | 8.0 | 0.062 | |
| 85 | c | MNT055 | Mental Retardation, X-linked, Syndromic 14 | 8.0 | 0.062 |
| 86 | MNT056 | Mental Retardation, X-linked, Syndromic, Nascimento Type | 9.0 | 0.062 | |
| 87 | MNT057 | Mental Retardation, X-linked, Syndromic, Raymond Type | 5.0 | 0.062 | |
| 88 | MNT059 | Mental Retardation, X-linked, with Growth Hormone Deficiency | 5.6 | 0.062 | |
| 89 | MNT060 | Mental Retardation, X-linked, with Short Stature, Small Testes, Muscle Wasting, and Tremor | 6.0 | 0.062 | |
| 90 | P | MNT061 | Mental Retardation-hypotonic Facies Syndrome, X-linked | 14.0 | 0.062 |
| 91 | P | MNT063 | Mental Retardation, X-linked | 28.4 | 0.062 |
| 92 | c | MNT064 | Mental Retardation, Autosomal Recessive, 6 | 17.4 | 0.062 |
| 93 | c | MNT065 | Mental Retardation, X-linked Nonspecific, Type 46 | 17.5 | 0.062 |
| 94 | c | MNT066 | Mental Retardation, X-linked 36/43/54 | 16.4 | 0.062 |
| 95 | MNT067 | Mental Retardation, Joint Hypermobility and Skin Laxity, with or Without Metabolic Abnormalities | 18.4 | 0.062 | |
| 96 | MNT068 | Mental Retardation, X-linked, Fraxe Type | 18.5 | 0.062 | |
| 97 | MNT069 | Mental Retardation with Language Impairment and Autistic Features | 7.0 | 0.062 | |
| 98 | c | MNT070 | Mental Retardation, X-linked Syndromic 16 | 15.5 | 0.062 |
| 99 | c | MNT071 | Mental Retardation, X-linked Nonspecific, 63 | 17.3 | 0.062 |
| 100 | MNT072 | Mental Retardation, Profound | 15.4 | 0.062 | |
| 101 | MNT073 | Mental Retardation, X-linked 17/31, Microduplication | 19.1 | 0.062 | |
| 102 | c | MNT074 | Mental Retardation, X-linked 84 | 14.4 | 0.062 |
| 103 | c | MNT075 | Mental Retardation, X-linked-49 | 5.0 | 0.062 |
| 104 | c | MNT076 | Mental Retardation, X-linked 20 | 4.0 | 0.062 |
| 105 | c | MNT077 | Mental Retardation, X-linked, 1 | 19.5 | 0.062 |
| 106 | MNT078 | Mental Retardation, Severe, with Spasticity and Tapetoretinal Degeneration | 5.0 | 0.062 | |
| 107 | c | MNT079 | Mental Retardation, X-linked 23, Nonspecific | 16.5 | 0.062 |
| 108 | c | MNT080 | Mental Retardation, X-linked 82 | 4.0 | 0.062 |
| 109 | c | MNT082 | Mental Retardation, X-linked Nonspecific, Type 50 | 5.0 | 0.062 |
| 110 | c | MNT083 | Mental Retardation, Autosomal Recessive, 9 | 4.0 | 0.062 |
| 111 | MNT084 | Mental Retardation, X-linked, with Short Stature | 5.0 | 0.062 | |
| 112 | c | MNT085 | Mental Retardation, X-linked, 2 | 4.0 | 0.062 |
| 113 | c | MNT086 | Mental Retardation, X-linked, Syndromic 12 | 15.5 | 0.062 |
| 114 | c | MNT087 | Mental Retardation, X-linked 77 | 4.0 | 0.062 |
| 115 | c | MNT088 | Mental Retardation, X-linked 81 | 4.0 | 0.062 |
| 116 | c | MNT089 | Mental Retardation, Autosomal Recessive, 8 | 4.0 | 0.062 |
| 117 | c | MNT090 | Mental Retardation, Autosomal Recessive, 12 | 4.0 | 0.062 |
| 118 | MNT091 | Mental Retardation, X-linked, Syndromic-5, with Dandy-walker Malformation, Basal Ganglia Disease, and Seizures | 4.0 | 0.062 | |
| 119 | c | MNT092 | Mental Retardation, X-linked 78 | 4.0 | 0.062 |
| 120 | c | MNT093 | Mental Retardation, X-linked 52 | 4.0 | 0.062 |
| 121 | c | MNT094 | Mental Retardation, Autosomal Recessive, 11 | 4.0 | 0.062 |
| 122 | c | MNT095 | Mental Retardation, X-linked Nonspecific, 42 | 4.0 | 0.062 |
| 123 | MNT097 | Mental Retardation Syndrome, X-linked, Armfield Type | 4.0 | 0.062 | |
| 124 | c | MNT098 | Mental Retardation, X-linked-53 | 4.0 | 0.062 |
| 125 | c | MNT099 | Mental Retardation, Autosomal Recessive, 10 | 4.0 | 0.062 |
| 126 | c | MNT100 | Mental Retardation, Autosomal Recessive, 4 | 4.0 | 0.062 |
| 127 | c | MNT101 | Mental Retardation, Autosomal Recessive 3 | 17.4 | 0.062 |
| 128 | MNT104 | Mental Retardation, X-linked, Syndromic-4, with Congenital Contractures and Low Fingertip Arches | 14.4 | 0.062 | |
| 129 | c | MNT105 | Mental Retardation, Autosomal Recessive 13 | 16.5 | 0.062 |
| 130 | c | MNT106 | Mental Retardation, Autosomal Dominant 2 | 14.4 | 0.062 |
| 131 | MNT107 | Mental Retardation, Fra12a Type | 15.4 | 0.062 | |
| 132 | MNT108 | Mental Retardation, X-linked, Syndromic, Jarid1c-related | 15.4 | 0.062 | |
| 133 | c | MNT109 | Mental Retardation, X-linked, Syndromic 15 (cabezas Type) | 17.5 | 0.062 |
| 134 | c | MNT110 | Mental Retardation, X-linked-92 | 15.5 | 0.062 |
| 135 | c | MNT111 | Mental Retardation, Autosomal Recessive 2a | 17.4 | 0.062 |
| 136 | MNT113 | Mental Retardation, X-linked, Syndromic 6, with Gynecomastia and Obesity | 14.3 | 0.062 | |
| 137 | c | MNT114 | Mental Retardation, X-linked Nonspecific, Type 19 | 15.4 | 0.062 |
| 138 | P | MNT115 | Mental Retardation, Autosomal Dominant 3 | 17.4 | 0.062 |
| 139 | P | MNT116 | Mental Retardation, X-linked Syndromic | 20.9 | 0.062 |
| 140 | MNT117 | Mental Retardation, X-linked, with or Without Epilepsy | 17.3 | 0.062 | |
| 141 | MNT118 | Mental Retardation, Anterior Maxillary Protrusion, and Strabismus | 17.4 | 0.062 | |
| 142 | MNT119 | Mental Retardation, X-linked, with Isolated Growth Hormone Deficiency | 17.4 | 0.062 | |
| 143 | c | MNT120 | Mental Retardation, Autosomal Dominant 4 | 16.5 | 0.062 |
| 144 | c | MNT122 | Mental Retardation, X-linked, 21/34 | 16.5 | 0.062 |
| 145 | MNT123 | Mental Retardation, X-linked, Zdhhc9-related | 15.4 | 0.062 | |
| 146 | MNT124 | Mental Retardation, X-linked, Syndromic-2, with Dysmorphism and Cerebral Atrophy | 14.5 | 0.062 | |
| 147 | c | MNT125 | Mental Retardation, Autosomal Recessive 1 | 13.0 | 0.062 |
| 148 | MSS001 | Masa Syndrome | 34.4 | 0.062 | |
| 149 | MYT010 | Myotonia Mental Retardation Skeletal Anomalies | 13.3 | 0.062 | |
| 150 | OPT019 | Opthalmoplegia Mental Retardation Lingua Scrotalis | 13.2 | 0.062 | |
| 151 | PRC022 | Pericardium Absent Mental Retardation Short Stature | 13.3 | 0.062 | |
| 152 | PTT014 | Pitt-hopkins Syndrome | 36.3 | 0.062 | |
| 153 | c | RNP003 | Renpenning Syndrome 1 | 23.7 | 0.062 |
| 154 | SDR004 | Siderius X-linked Mental Retardation Syndrome | 19.2 | 0.062 | |
| 155 | SHR018 | Short Stature Mental Retardation Eye Anomalies | 13.0 | 0.062 | |
| 156 | SLC018 | Slc6a8-related Creatine Transporter Deficiency | 18.8 | 0.062 | |
| 157 | SLC019 | Slc9a6-related Syndromic Mental Retardation | 6.6 | 0.062 | |
| 158 | P | SMP003 | Simpson-golabi-behmel Syndrome | 43.1 | 0.062 |
| 159 | SPS050 | Spasticity Mental Retardation | 13.3 | 0.062 | |
| 160 | SZR004 | Seizures Mental Retardation Hair Dysplasia | 13.5 | 0.062 | |
| 161 | c | XLN043 | X-linked Mental Retardation 30 | 18.8 | 0.062 |
| 162 | c | XLN045 | X-linked Mental Retardation 45 | 8.0 | 0.062 |
| 163 | c | XLN048 | X-linked Mental Retardation 58 | 9.0 | 0.062 |
| 164 | c | XLN049 | X-linked Mental Retardation 59 | 8.0 | 0.062 |
| 165 | c | XLN051 | X-linked Mental Retardation 72 | 8.3 | 0.062 |
| 166 | c | XLN052 | X-linked Mental Retardation 88 | 6.0 | 0.062 |
| 167 | c | XLN053 | X-linked Mental Retardation 89 | 7.2 | 0.062 |
| 168 | c | XLN054 | X-linked Mental Retardation 9 | 9.6 | 0.062 |
| 169 | c | XLN055 | X-linked Mental Retardation 90 | 6.6 | 0.062 |
| 170 | c | XLN056 | X-linked Mental Retardation 91 | 7.6 | 0.062 |
| 171 | c | XLN057 | X-linked Mental Retardation 93 | 8.3 | 0.062 |
| 172 | c | XLN058 | X-linked Mental Retardation 94 | 8.3 | 0.062 |
| 173 | c | XLN059 | X-linked Mental Retardation 95 | 8.0 | 0.062 |
| 174 | XLN061 | X-linked Mental Retardation with Epilepsy | 27.5 | 0.062 | |
| 175 | c | XLN062 | X-linked Syndromic Mental Retardation 10 | 11.6 | 0.062 |
| 176 | CL9001 | Col9a1-related Multiple Epiphyseal Dysplasia | 14.9 | 0.054 | |
| 177 | CTS011 | Cutis Marmorata Telangiectatica Congenita | 22.0 | 0.054 | |
| 178 | CWD001 | Cowden Disease | 67.3 | 0.054 | |
| 179 | EPP003 | Epiphyseal Dysplasia | 44.7 | 0.054 | |
| 180 | HRD010 | Hereditary Spastic Paraplegia | 56.3 | 0.054 | |
| 181 | MGL013 | Megalencephaly | 35.4 | 0.054 | |
| 182 | MLT007 | Multiple Epiphyseal Dysplasia | 61.2 | 0.054 | |
| 183 | c | MYP018 | Myopia 6 | 13.4 | 0.054 |
| 184 | PLZ001 | Pelizaeus-merzbacher Disease | 55.5 | 0.054 | |
| 185 | c | SPS013 | Spastic Paraplegia 8 | 12.9 | 0.054 |
| 186 | c | SPS014 | Spastic Paraplegia Type 4 | 15.1 | 0.054 |
| 187 | c | SPS015 | Spastic Paraplegia Type 11 | 15.1 | 0.054 |
| 188 | c | SPS023 | Spastic Paraplegia 13 | 8.6 | 0.054 |
| 189 | c | SPS028 | Spastic Paraplegia 18 | 13.6 | 0.054 |
| 190 | c | SPS029 | Spastic Paraplegia 19 | 4.6 | 0.054 |
| 191 | c | SPS035 | Spastic Paraplegia 29 | 3.6 | 0.054 |
| 192 | c | SPS041 | Spastic Paraplegia 6 | 19.8 | 0.054 |
| 193 | c | SPS042 | Spastic Paraplegia 9 | 5.6 | 0.054 |
| 194 | c | SPS055 | Spastic Paraplegia 42 | 8.0 | 0.054 |
| 195 | c | SPS056 | Spastic Paraplegia 44 | 7.3 | 0.054 |
| 196 | ALP008 | Alopecia | 71.3 | 0.044 | |
| 197 | c | CHR225 | Chromosome 1q21.1 Duplication Syndrome | 2.0 | 0.044 |
| 198 | CRN013 | Craniodiaphyseal Dysplasia | 28.4 | 0.044 | |
| 199 | DND009 | Dandy-walker Malformation with Facial Hemangioma | 2.0 | 0.044 | |
| 200 | DND010 | Dandy-walker Malformation with Mental Retardation Basal Ganglia Disease and Seizures | 11.0 | 0.044 | |
| 201 | DND012 | Dandy-walker Malformation with Nasopharyngeal Teratoma and Diaphragmatic Hernia | 2.0 | 0.044 | |
| 202 | DND013 | Dandy-walker Malformation with Postaxial Polydactyly | 2.0 | 0.044 | |
| 203 | DND014 | Dandy-walker Malformation with Sagittal Craniosynostosis and Hydrocephalus | 2.0 | 0.044 | |
| 204 | DWS001 | Dws-related Dandy Walker Syndrome | 6.7 | 0.044 | |
| 205 | P | HMC003 | Hemochromatosis | 81.0 | 0.044 |
| 206 | HMH002 | Hemihypertrophy | 40.1 | 0.044 | |
| 207 | MLT043 | Multiple Epiphyseal Dysplasia 1 | 10.3 | 0.044 | |
| 208 | MLT044 | Multiple Epiphyseal Dysplasia 2 | 4.6 | 0.044 | |
| 209 | MST006 | Mast Syndrome | 21.1 | 0.044 | |
| 210 | c | MYP042 | Myopia 17 | 10.2 | 0.044 |
| 211 | SCH016 | Schimke Immunoosseous Dysplasia | 27.8 | 0.044 | |
| 212 | SCL018 | Scoliosis | 60.4 | 0.044 | |
| 213 | SHR002 | Short Stature | 67.1 | 0.044 | |
| 214 | c | SPS012 | Spastic Paraplegia 3a | 28.4 | 0.044 |
| 215 | c | SPS020 | Spastic Paraplegia 1 | 15.2 | 0.044 |
| 216 | c | SPS021 | Spastic Paraplegia 10 | 9.3 | 0.044 |
| 217 | c | SPS022 | Spastic Paraplegia 12 | 5.0 | 0.044 |
| 218 | c | SPS024 | Spastic Paraplegia 14 | 3.0 | 0.044 |
| 219 | c | SPS025 | Spastic Paraplegia 15 | 10.8 | 0.044 |
| 220 | c | SPS026 | Spastic Paraplegia 16 | 3.0 | 0.044 |
| 221 | c | SPS030 | Spastic Paraplegia 20 | 8.6 | 0.044 |
| 222 | c | SPS033 | Spastic Paraplegia 25 | 3.6 | 0.044 |
| 223 | c | SPS034 | Spastic Paraplegia 26 | 3.0 | 0.044 |
| 224 | c | SPS036 | Spastic Paraplegia 3 | 21.2 | 0.044 |
| 225 | c | SPS037 | Spastic Paraplegia 31 | 17.5 | 0.044 |
| 226 | c | SPS038 | Spastic Paraplegia 39 | 8.3 | 0.044 |
| 227 | c | SPS052 | Spastic Paraplegia 30 | 13.9 | 0.044 |
| 228 | c | SPS053 | Spastic Paraplegia 33 | 16.5 | 0.044 |
| 229 | c | SPS054 | Spastic Paraplegia 35 | 5.6 | 0.044 |
| 230 | c | SPS059 | Spastic Paraplegia 41 | 9.4 | 0.044 |
| 231 | c | SPS063 | Spastic Paraplegia-38 | 9.7 | 0.044 |
| 232 | c | SPS064 | Spastic Paraplegia 45 | 2.0 | 0.044 |
| 233 | c | SPS065 | Spastic Paraplegia-37 | 2.0 | 0.044 |
| 234 | c | SPS066 | Spastic Paraplegia-32 | 2.0 | 0.044 |
| 235 | c | SPS067 | Spastic Paraplegia-27 | 2.0 | 0.044 |
| 236 | c | SPS069 | Spastic Paraplegia-36 | 2.0 | 0.044 |
| 237 | c | SPS070 | Spastic Paraplegia-28 | 2.0 | 0.044 |
| 238 | P | SYN001 | Syndactyly | 58.5 | 0.044 |
| 239 | SZR002 | Seizures | 70.7 | 0.044 | |
| 240 | TRY002 | Troyer Syndrome | 36.2 | 0.044 | |
| 241 | 3MS001 | 3-m Syndrome | 36.3 | 0.031 | |
| 242 | 3MS004 | 3-m Syndrome, Obsl1-related | 16.8 | 0.031 | |
| 243 | 46X010 | 46xy Partial Gonadal Dysgenesis, with Minifascicular Neuropathy | 13.2 | 0.031 | |
| 244 | P | ACH010 | Achondrogenesis Type Ii | 38.6 | 0.031 |
| 245 | ACM001 | Acampomelic Campolelic Dysplasia | 11.7 | 0.031 | |
| 246 | ACN002 | Acanthosis Nigricans | 68.0 | 0.031 | |
| 247 | ACR020 | Acropectorovertebral Dysplasia | 12.7 | 0.031 | |
| 248 | ACR046 | Acropectorovertebral Dysplasia F Form | 13.5 | 0.031 | |
| 249 | P | ACT101 | Acute Lymphoblastic Leukemia | 80.9 | 0.031 |
| 250 | ACT131 | Acetabular Dysplasia | 12.4 | 0.031 | |
| 251 | ALG002 | Alagille Syndrome | 65.1 | 0.031 | |
| 252 | ALV006 | Alveolar Capillary Dysplasia | 36.7 | 0.031 | |
| 253 | ALV007 | Alveolar Capillary Dysplasia with Misalignment of Pulmonary Veins | 26.7 | 0.031 | |
| 254 | ANG001 | Angelman Syndrome | 57.8 | 0.031 | |
| 255 | ANK002 | Ankylosing Spondylitis | 88.2 | 0.031 | |
| 256 | ANL003 | Anal Buschke-lowenstein Tumor | 10.3 | 0.031 | |
| 257 | ANT006 | Antiphospholipid Syndrome | 73.5 | 0.031 | |
| 258 | ARR001 | Arrhythmogenic Right Ventricular Dysplasia | 52.4 | 0.031 | |
| 259 | ARS001 | Aarskog-scott Syndrome | 46.4 | 0.031 | |
| 260 | ART019 | Aortic Valve Stenosis | 64.8 | 0.031 | |
| 261 | c | ATL002 | Atelosteogenesis Ii | 20.5 | 0.031 |
| 262 | ATP003 | Atp6v0a2-related Cutis Laxa | 11.5 | 0.031 | |
| 263 | ATS001 | Autistic Disorder | 63.1 | 0.031 | |
| 264 | ATX010 | Ataxia Neuropathy Spectrum | 18.9 | 0.031 | |
| 265 | BMR001 | Boomerang Dysplasia | 24.8 | 0.031 | |
| 266 | BND003 | Binder Syndrome | 19.8 | 0.031 | |
| 267 | P | BRN019 | Bernard-soulier Syndrome | 55.7 | 0.031 |
| 268 | CHR029 | Choroid Plexus Papilloma | 53.0 | 0.031 | |
| 269 | CHS006 | Chst3-related Skeletal Dysplasia | 21.5 | 0.031 | |
| 270 | CL9003 | Col9a2-related Multiple Epiphyseal Dysplasia | 5.0 | 0.031 | |
| 271 | CL9005 | Col9a3-related Multiple Epiphyseal Dysplasia | 4.0 | 0.031 | |
| 272 | P | CMR001 | Camurati-engelmann Disease | 53.6 | 0.031 |
| 273 | CNG001 | Congenital Myasthenic Syndrome | 52.3 | 0.031 | |
| 274 | CNN007 | Connective Tissue Dysplasia Spellacy Type | 12.6 | 0.031 | |
| 275 | CNT035 | Central Nervous System Disease | 61.5 | 0.031 | |
| 276 | CPL008 | Capillary Malformations | 17.8 | 0.031 | |
| 277 | CRB021 | Cerebral Malaria | 75.3 | 0.031 | |
| 278 | CRB076 | Cerebro Facio Thoracic Dysplasia | 13.2 | 0.031 | |
| 279 | CRD008 | Cardiac Valvular Dysplasia | 13.4 | 0.031 | |
| 280 | CRD017 | Cardiac Valvular Dysplasia, X-linked | 18.9 | 0.031 | |
| 281 | CRN051 | Craniofacial Microsomia | 21.0 | 0.031 | |
| 282 | CTN014 | Cutaneous Mastocytosis | 40.1 | 0.031 | |
| 283 | P | CTN021 | Cutaneous Malignant Melanoma | 67.2 | 0.031 |
| 284 | P | CTS001 | Cutis Laxa | 54.2 | 0.031 |
| 285 | CTS007 | Cutis Laxa Osteoporosis | 7.2 | 0.031 | |
| 286 | CTS008 | Cutis Laxa, Autosomal Dominant | 14.6 | 0.031 | |
| 287 | c | CTS009 | Cutis Laxa, Autosomal Recessive Type 2a | 6.6 | 0.031 |
| 288 | P | CTS010 | Cutis Laxa, Autosomal Recessive Type 2b | 13.3 | 0.031 |
| 289 | CTS015 | Cutis Laxa with Severe Pulmonary, Gastrointestinal, and Urinary Abnormalities | 14.8 | 0.031 | |
| 290 | c | CTS017 | Cutis Laxa, Autosomal Recessive, Type Ii | 11.2 | 0.031 |
| 291 | c | CTS019 | Cutis Laxa, Ad | 10.9 | 0.031 |
| 292 | CTS020 | Cutis Laxa, Marfanoid Neonatal Type | 9.2 | 0.031 | |
| 293 | CZC001 | Czech Dysplasia Metatarsal Type | 15.6 | 0.031 | |
| 294 | CZC002 | Czech Dysplasia | 19.7 | 0.031 | |
| 295 | DVL004 | Developmental Dysplasia of Hip | 33.0 | 0.031 | |
| 296 | DYS029 | Dyssegmental Dysplasia | 14.7 | 0.031 | |
| 297 | DYS044 | Dysmorphism Cleft Palate Loose Skin | 8.1 | 0.031 | |
| 298 | DYS048 | Dysplasia Epiphysealis Hemimelica | 26.0 | 0.031 | |
| 299 | DYS049 | Dysplastic Cortical Hyperostosis | 2.0 | 0.031 | |
| 300 | DYS050 | Dyssegmental Dysplasia and Glaucoma | 1.0 | 0.031 | |
| 301 | DYS052 | Dyssegmental Dysplasia Silverman-handmaker Type | 9.3 | 0.031 | |
| 302 | DYS102 | Dysplasia of Cervix | 24.7 | 0.031 | |
| 303 | EFM001 | Efemp2-related Cutis Laxa | 11.8 | 0.031 | |
| 304 | ELN002 | Eln-related Cutis Laxa | 8.0 | 0.031 | |
| 305 | EPL017 | Epilepsy Multi-gene Panels | 15.2 | 0.031 | |
| 306 | EPM002 | Epimetaphyseal Dysplasia Cataract | 11.6 | 0.031 | |
| 307 | EPP004 | Epiphyseal Dysplasia Dysmorphism Camptodactyly | 2.0 | 0.031 | |
| 308 | EPP005 | Epiphyseal Dysplasia Hearing Loss Dysmorphism | 2.0 | 0.031 | |
| 309 | EPP006 | Epiphyseal Dysplasia Multiple with Early-onset Diabetes Mellitus | 8.3 | 0.031 | |
| 310 | EPP007 | Epiphyseal Dysplasia, Multiple, with Myopathy | 13.3 | 0.031 | |
| 311 | EPP008 | Epiphyseal Dysplasia, Multiple, with Myopia and Deafness | 15.6 | 0.031 | |
| 312 | ERL009 | Early Infantile Epileptic Encephalopathy Multi-gene Panels | 15.7 | 0.031 | |
| 313 | FBL003 | Fbln5-related Cutis Laxa | 14.0 | 0.031 | |
| 314 | FCC001 | Faciocardiomelic Dysplasia Lethal | 11.6 | 0.031 | |
| 315 | FLN004 | Flna-related X-linked Cardiac Valvular Dysplasia | 11.2 | 0.031 | |
| 316 | FML082 | Familial Partial Paralysis | 12.5 | 0.031 | |
| 317 | FTT002 | Fatty Acid Hydroxylase-associated Neurodegeneration | 14.9 | 0.031 | |
| 318 | GGN001 | Gigantism Due to Ghrf Hypersecretion | 9.0 | 0.031 | |
| 319 | GGN002 | Gigantism | 55.9 | 0.031 | |
| 320 | GGN003 | Gigantism Advanced Bone Age Hoarse Cry | 2.0 | 0.031 | |
| 321 | GLL005 | Gallbladder Pleomorphic Giant Cell Adenocarcinoma | 8.8 | 0.031 | |
| 322 | GNT012 | Gnthodiaphyseal Dysplasia | 11.7 | 0.031 | |
| 323 | GNT021 | Giant Ganglionic Hyperplasia | 6.9 | 0.031 | |
| 324 | GNT025 | Giant Platelet Disorder, Isolated | 8.7 | 0.031 | |
| 325 | GRG001 | Greig Cephalopolysyndactyly Syndrome | 38.6 | 0.031 | |
| 326 | HMM003 | Hemimegalencephaly | 48.3 | 0.031 | |
| 327 | HPD001 | Hip Dysplasia | 34.6 | 0.031 | |
| 328 | HRD052 | Hereditary Mucoepithelial Dysplasia | 20.2 | 0.031 | |
| 329 | HYD006 | Hydrocephalus | 69.4 | 0.031 | |
| 330 | HYP040 | Hypospadias | 58.2 | 0.031 | |
| 331 | HYP080 | Hypogonadism | 74.9 | 0.031 | |
| 332 | HYP265 | Hypotonia | 52.6 | 0.031 | |
| 333 | INF114 | Infection-induced Acute Encephalopathy 3, Susceptibility to | 14.8 | 0.031 | |
| 334 | KNS001 | Kniest Dysplasia | 39.1 | 0.031 | |
| 335 | LCL010 | Localized Epiphyseal Dysplasia | 11.6 | 0.031 | |
| 336 | LNG008 | Langer-giedion Syndrome | 37.0 | 0.031 | |
| 337 | LNR002 | Linear Hamartoma Syndrome | 7.8 | 0.031 | |
| 338 | MCR036 | Macroepiphyseal Dysplasia with Osteoporosis, Wrinkled Skin, and Aged Appearance | 14.1 | 0.031 | |
| 339 | MLG049 | Malignant Syringoma | 17.8 | 0.031 | |
| 340 | MLT030 | Multiple Epiphyseal Dysplasia, Dominant | 22.6 | 0.031 | |
| 341 | MLT031 | Multiple Epiphyseal Dysplasia, Recessive | 11.2 | 0.031 | |
| 342 | MLT045 | Multiple Epiphyseal Dysplasia 3 | 3.6 | 0.031 | |
| 343 | MLT046 | Multiple Epiphyseal Dysplasia 4 | 5.0 | 0.031 | |
| 344 | MLT047 | Multiple Epiphyseal Dysplasia 5 | 5.0 | 0.031 | |
| 345 | MND005 | Mondini Dysplasia | 17.6 | 0.031 | |
| 346 | MTT002 | Metatropic Dysplasia | 21.7 | 0.031 | |
| 347 | MYC002 | Mycobacterium Avium Complex Disease | 54.9 | 0.031 | |
| 348 | P | MYP006 | Myopia | 63.6 | 0.031 |
| 349 | MYP023 | Myopia, Autosomal | 9.7 | 0.031 | |
| 350 | MYP024 | Myopia, X-linked | 5.0 | 0.031 | |
| 351 | c | MYP040 | Myopia 7 | 3.0 | 0.031 |
| 352 | c | MYP041 | Myopia 8 | 9.1 | 0.031 |
| 353 | c | MYP043 | Myopia 15 | 15.2 | 0.031 |
| 354 | c | MYP044 | Myopia 10 | 3.0 | 0.031 |
| 355 | c | MYP045 | Myopia 12 | 8.9 | 0.031 |
| 356 | c | MYP046 | Myopia 13 | 2.0 | 0.031 |
| 357 | c | MYP047 | Myopia-1 | 2.0 | 0.031 |
| 358 | c | MYP048 | Myopia 9 | 2.0 | 0.031 |
| 359 | c | MYP049 | Myopia 5 | 2.0 | 0.031 |
| 360 | c | MYP050 | Myopia-3 | 2.0 | 0.031 |
| 361 | c | MYP051 | Myopia-2 | 14.0 | 0.031 |
| 362 | c | MYP052 | Myopia 16 | 2.0 | 0.031 |
| 363 | c | MYP053 | Myopia 11 | 11.8 | 0.031 |
| 364 | NCR006 | Necrosis of Ear Ossicle | 15.0 | 0.031 | |
| 365 | NRN007 | Neuronal Interstitial Dysplasia | 11.6 | 0.031 | |
| 366 | NVF002 | Nevi Flammei | 10.5 | 0.031 | |
| 367 | OBS005 | Obesity | 89.2 | 0.031 | |
| 368 | OCC006 | Occipital Horn Syndrome | 37.0 | 0.031 | |
| 369 | OCH002 | Ochoa Syndrome | 28.7 | 0.031 | |
| 370 | OCL013 | Oculodentodigital Dysplasia | 35.0 | 0.031 | |
| 371 | ODN004 | Odonto Onycho Dysplasia with Alopecia | 11.6 | 0.031 | |
| 372 | OPT018 | Opthalmomandibulomelic Dysplasia | 11.6 | 0.031 | |
| 373 | P | ORL008 | Oral-facial-digital Syndrome | 24.0 | 0.031 |
| 374 | OSS003 | Osseous Dysplasia | 29.7 | 0.031 | |
| 375 | OSS008 | Osseous Dysplasia, Digital, with Facial Pigmentary Defects and Multiple Frenula | 12.7 | 0.031 | |
| 376 | OST016 | Osteochondrosis | 39.7 | 0.031 | |
| 377 | OST044 | Osteoglophonic Dysplasia | 44.9 | 0.031 | |
| 378 | OTS002 | Otospondylomegaepiphyseal Dysplasia | 40.0 | 0.031 | |
| 379 | OVR082 | Overgrowth Syndrome | 28.3 | 0.031 | |
| 380 | PLD001 | Pilo Dento Ungular Dysplasia Microcephaly | 12.7 | 0.031 | |
| 381 | PLD002 | Pilodental Dysplasia with Refractive Errors | 12.5 | 0.031 | |
| 382 | PLV006 | Pelvic Dysplasia Arthrogryposis of Lower Limbs | 13.2 | 0.031 | |
| 383 | PLY006 | Polydactyly | 52.6 | 0.031 | |
| 384 | PNT009 | Pontine Tegmental Cap Dysplasia | 17.4 | 0.031 | |
| 385 | PRD010 | Por Deficiency | 24.9 | 0.031 | |
| 386 | PRP016 | Paraplegia | 48.8 | 0.031 | |
| 387 | PRT001 | Partial Fetal Alcohol Syndrome | 28.3 | 0.031 | |
| 388 | PRT007 | Partial of Retinal Vein Occlusion | 15.7 | 0.031 | |
| 389 | PRT047 | Partial Agenesis of Corpus Callosum | 21.5 | 0.031 | |
| 390 | PRT048 | Partial Atrioventricular Canal | 6.0 | 0.031 | |
| 391 | PRT049 | Partial Deletion of Y | 8.3 | 0.031 | |
| 392 | PSD030 | Pseudodiastrophic Dysplasia | 15.6 | 0.031 | |
| 393 | PTZ001 | Peutz-jeghers Syndrome | 70.2 | 0.031 | |
| 394 | PYC002 | Pycr1-related Cutis Laxa | 12.4 | 0.031 | |
| 395 | RDD001 | Radio-digito-facial Dysplasia | 12.6 | 0.031 | |
| 396 | RHZ006 | Rhizomelic Dysplasia, Scoliosis, and Retinitis Pigmentosa | 11.6 | 0.031 | |
| 397 | RNL035 | Renal Dysplasia Diffuse Autosomal Recessive | 11.6 | 0.031 | |
| 398 | RNL036 | Renal Dysplasia Diffuse Cystic | 3.0 | 0.031 | |
| 399 | RNL037 | Renal Dysplasia Megalocystis Sirenomelia | 1.0 | 0.031 | |
| 400 | RNL038 | Renal Dysplasia, Retinal Pigmentary Dystrophy, Cerebellar Ataxia and Skeletal Dysplasia | 4.3 | 0.031 | |
| 401 | RNL041 | Renal Hamartomas Nephroblastomatosis and Fetal Gigantism | 5.0 | 0.031 | |
| 402 | RTN038 | Retinal Dysplasia X-linked | 11.4 | 0.031 | |
| 403 | RVL002 | Ruvalcaba Syndrome | 30.6 | 0.031 | |
| 404 | SCN013 | Scn1a-related Intractable Infantile Partial Seizures | 11.3 | 0.031 | |
| 405 | SHR017 | Short Stature Dysmorphic Face Pelvic Scapula Dysplasia | 11.5 | 0.031 | |
| 406 | SLV005 | Silver Spastic Paraplegia Syndrome | 12.8 | 0.031 | |
| 407 | SMT008 | Smith-magenis Syndrome | 37.1 | 0.031 | |
| 408 | SND001 | Sandhoff Disease | 50.0 | 0.031 | |
| 409 | P | SNR001 | Senior-loken Syndrome | 43.9 | 0.031 |
| 410 | SNR008 | Senior-loken Syndrome Multi-gene Panels | 15.5 | 0.031 | |
| 411 | SNR010 | Senior-løken Syndrome | 15.9 | 0.031 | |
| 412 | SPN010 | Sponastrime Dysplasia | 38.7 | 0.031 | |
| 413 | P | SPN016 | Spondylocostal Dysostosis | 46.1 | 0.031 |
| 414 | SPN028 | Spondyloepimetaphyseal Dysplasia, Strudwick Type | 17.5 | 0.031 | |
| 415 | SPN030 | Spondyloepimetaphyseal Dysplasia, Missouri Type | 21.6 | 0.031 | |
| 416 | SPN081 | Spondylocostal Dysostosis, Autosomal Recessive | 27.0 | 0.031 | |
| 417 | SPN126 | Spondyloepimetaphyseal Dysplasia Genevieve Type | 12.4 | 0.031 | |
| 418 | SPN127 | Spondyloepimetaphyseal Dysplasia Joint Laxity | 6.6 | 0.031 | |
| 419 | SPN128 | Spondyloepimetaphyseal Dysplasia Matrilin-3 Related | 2.6 | 0.031 | |
| 420 | SPN129 | Spondyloepimetaphyseal Dysplasia Micromelic | 2.0 | 0.031 | |
| 421 | SPN130 | Spondyloepimetaphyseal Dysplasia Shohat Type | 2.0 | 0.031 | |
| 422 | SPN131 | Spondyloepimetaphyseal Dysplasia Sponastrime Type | 3.0 | 0.031 | |
| 423 | SPN132 | Spondyloepimetaphyseal Dysplasia with Hypotrichosis | 2.6 | 0.031 | |
| 424 | SPN133 | Spondyloepimetaphyseal Dysplasia with Multiple Dislocations | 2.6 | 0.031 | |
| 425 | SPN134 | Spondyloepimetaphyseal Dysplasia X-linked | 3.0 | 0.031 | |
| 426 | SPN135 | Spondyloepimetaphyseal Dysplasia X-linked with Mental Deterioration | 2.0 | 0.031 | |
| 427 | SPN136 | Spondyloepimetaphyseal Dysplasia, Aggrecan Type | 6.0 | 0.031 | |
| 428 | SPN143 | Spondylometaepiphyseal Dysplasia Short Limb-hand Type | 19.6 | 0.031 | |
| 429 | P | SPS010 | Spastic Paraplegia | 39.6 | 0.031 |
| 430 | c | SPS027 | Spastic Paraplegia 17 | 13.1 | 0.031 |
| 431 | c | SPS031 | Spastic Paraplegia 23 | 4.6 | 0.031 |
| 432 | c | SPS032 | Spastic Paraplegia 24 | 2.0 | 0.031 |
| 433 | c | SPS039 | Spastic Paraplegia 5a | 8.6 | 0.031 |
| 434 | c | SPS040 | Spastic Paraplegia 5b | 3.0 | 0.031 |
| 435 | SPS043 | Spastic Paraplegia and Distal Muscle Wasting Caused by Neuropathy Target Esterase Gene Mutation | 1.0 | 0.031 | |
| 436 | SPS047 | Spastic Paraplegia with Precocious Puberty | 2.6 | 0.031 | |
| 437 | SPS057 | Spasticity | 64.4 | 0.031 | |
| 438 | SPS060 | Spastic Paraplegia-16, X-linked, Complicated | 3.0 | 0.031 | |
| 439 | SPS061 | Spastic Paraplegia, Optic Atrophy, and Neuropathy | 11.8 | 0.031 | |
| 440 | SPS062 | Spastic Paraplegia 34, X-linked | 3.0 | 0.031 | |
| 441 | c | SPS068 | Spastic Paraplegia 14, Autosomal Recessive | 2.0 | 0.031 |
| 442 | P | SPS071 | Spastic Paraplegia 48, Autosomal Recessive | 11.8 | 0.031 |
| 443 | c | SPS076 | Spastic Paraplegia 48 | 2.0 | 0.031 |
| 444 | SPT006 | Septooptic Dysplasia | 29.0 | 0.031 | |
| 445 | STR031 | Sternal Malformation Vascular Dysplasia Associatio | 11.6 | 0.031 | |
| 446 | STS001 | Sotos Syndrome | 37.2 | 0.031 | |
| 447 | THR013 | Thoracic Outlet Syndrome | 33.0 | 0.031 | |
| 448 | P | TRC011 | Treacher Collins Syndrome | 53.0 | 0.031 |
| 449 | TRC064 | Trochlear Dysplasia | 12.6 | 0.031 | |
| 450 | TRC078 | Trichohepatoenteric Syndrome 2 | 15.5 | 0.031 | |
| 451 | TRM003 | Tremor | 59.4 | 0.031 | |
| 452 | TRM011 | Terminal Osseous Dysplasia | 20.5 | 0.031 | |
| 453 | TTR002 | Tetra-amelia | 35.6 | 0.031 | |
| 454 | TWN004 | Twinning | 68.0 | 0.031 | |
| 455 | VCT001 | Vacterl Association | 45.5 | 0.031 | |
| 456 | VTR006 | Vater Association with Hydrocephalus | 3.6 | 0.031 | |
| 457 | WLF002 | Wolf-hirschhorn Syndrome | 42.1 | 0.031 | |
| 458 | WLK001 | Walker-warburg Syndrome | 50.9 | 0.031 | |
| 459 | WST001 | West Syndrome | 44.8 | 0.031 | |
| 460 | WTS001 | Watson Syndrome | 15.7 | 0.031 | |
| 461 | XLN017 | X-linked Spondyloepiphyseal Dysplasia Tarda | 30.8 | 0.031 |