Search results for bilateral choanal atresia

128 hits were found for bilateral choanal atresia

# Family MCID Name MIFTS Score
1
CHN069 Choanal Atresia-Hearing Loss-Cardiac Defects-Craniofacial Dysmorphism Syndrome 19 4.122
2
BRN062 Burn-Mckeown Syndrome 28 3.535
3
CHN052 Choanal Atresia, Bilateral 6 2.699
4
CHN065 Choanal Atresia, Posterior 43 0.968
5
P ESP024 Esophagitis 64 0.440
6
ESP020 Esophageal Atresia 54 0.428
7
TRC109 Tracheoesophageal Fistula with or Without Esophageal Atresia 36 0.416
8
TRC040 Tracheoesophageal Fistula 47 0.256
9
INT060 Intestinal Atresia 42 0.255
10
JJN004 Jejunal Atresia 33 0.210
11
AGN016 Aging 65 0.176
12
CHR103 Charge Syndrome 59 0.172
13
P HRT032 Heart Disease 80 0.164
14
MCR103 Microtia 39 0.156
15
PFF001 Pfeiffer Syndrome 74 0.156
16
P ART153 Arthrochalasia Ehlers-Danlos Syndrome 21 0.145
17
P ANR048 Aniridia 1 68 0.139
18
P TRC072 Treacher Collins Syndrome 1 61 0.138
19
SLT005 Solitary Median Maxillary Central Incisor 36 0.135
20
ATX031 Ataxia, Combined Cerebellar and Peripheral, with Hearing Loss and Diabetes Mellitus 40 0.135
21
ANS023 Anus, Imperforate 50 0.135
22
ANR038 Anorexia Nervosa 1 21 0.129
23
BLD137 Blood Group--Ahonen 17 0.129
24
P PLY006 Polydactyly 57 0.126
25
c BRN108 Branchiootic Syndrome 1 47 0.124
26
CLF027 Cleft Palate, Isolated 61 0.124
27
MCR013 Microphthalmia 61 0.123
28
P THY032 Thyroiditis 56 0.123
29
P CTR002 Cataract 60 0.122
30
P MCR010 Microcephaly 57 0.119
31
c BLD140 Blood Group, I System 37 0.116
32
P LRY019 Laryngitis 57 0.115
33
NSP002 Nasopharyngitis 46 0.114
34
VTR016 Vater/vacterl Association 37 0.112
35
CLB010 Coloboma of Macula 52 0.108
36
c BRS108 Breasts and/or Nipples, Aplasia or Hypoplasia of, 1 20 0.108
37
P ENC008 Encephalocele 48 0.108
38
P HLP001 Holoprosencephaly 67 0.106
39
ALR002 Al-Raqad Syndrome 30 0.103
40
ECT100 Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/palate Syndrome 1 44 0.102
41
DYS018 Dysostosis 48 0.102
42
DWN001 Down Syndrome 70 0.101
43
GST092 Gastroesophageal Reflux 64 0.100
44
CHR518 Chromosome 9p Deletion Syndrome 36 0.100
45
P HYP086 Hypothyroidism 62 0.098
46
BRN106 Burns 57 0.097
47
ECT006 Ectodermal Dysplasia 57 0.096
48
FRY006 Fryns Microphthalmia Syndrome 44 0.095
49
CLF001 Cleft Lip 54 0.095
50
P TRT010 Teratoma 53 0.094
51
TTR025 Tetraamelia Syndrome, Autosomal Recessive 40 0.093
52
c FRS014 Fraser Syndrome 1 51 0.092
53
P HYD006 Hydrocephalus 68 0.092
54
SPR065 Supernumerary Nostril 19 0.092
55
PHR003 Pharyngitis 59 0.091
56
c TRC073 Treacher Collins Syndrome 2 18 0.089
57
MCS002 Mucositis 61 0.089
58
RNS001 Raine Syndrome 45 0.089
59
P SNS014 Sinusitis 62 0.088
60
P NJM001 Nijmegen Breakage Syndrome 69 0.087
61
P CRN037 Craniosynostosis 68 0.085
62
P THR014 Thrombocytopenia 65 0.083
63
CHR382 Chromosome 18q Deletion Syndrome 35 0.082
64
P BRC006 Brachydactyly 57 0.081
65
P LYM025 Lymphedema 63 0.080
66
P OST001 Osteopetrosis 70 0.080
67
ACH004 Achondroplasia 67 0.080
68
ALP041 Alopecia, Neurologic Defects, and Endocrinopathy Syndrome 37 0.079
69
P FRN036 Frontonasal Dysplasia 1 39 0.079
70
c CNG006 Congenital Hypothyroidism 62 0.078
71
HPT082 Hepatic Adenomas, Familial 52 0.078
72
c ORF040 Orofaciodigital Syndrome Viii 53 0.076
73
P DYS021 Dysautonomia 47 0.076
74
c ORF035 Orofaciodigital Syndrome Iv 34 0.076
75
GPS001 Gapo Syndrome 36 0.076
76
P RHB003 Rhabdomyosarcoma 61 0.075
77
P HYP076 Hyperthyroidism 56 0.075
78
P DYS007 Dyskeratosis Congenita 68 0.074
79
VLC001 Velocardiofacial Syndrome 64 0.074
80
P FNC027 Fanconi Anemia, Complementation Group a 78 0.074
81
CRZ001 Crouzon Syndrome 71 0.073
82
P CRN015 Cornelia De Lange Syndrome 65 0.073
83
c MRG015 Meier-Gorlin Syndrome 7 22 0.071
84
PLL001 Pallister-Hall Syndrome 59 0.070
85
CHR178 Chromosomal Triplication 35 0.070
86
DRM013 Dermoid Cyst 43 0.069
87
P BLP047 Blepharocheilodontic Syndrome 1 41 0.069
88
PRR016 Pierre Robin Syndrome 57 0.069
89
c OST126 Osteopetrosis, Autosomal Recessive 1 36 0.069
90
RGH009 Right Atrial Isomerism 48 0.068
91
PYC001 Pycnodysostosis 51 0.068
92
MCR348 Microphthalmia with Cyst, Bilateral Facial Clefts, and Limb Anomalies 11 0.068
93
DRR017 Diarrhea 3, Secretory Sodium, Congenital, with or Without Other Congenital Anomalies 29 0.068
94
P HLL001 Hallermann-Streiff Syndrome 58 0.067
95
P SYN075 Syngnathia 29 0.065
96
DBT022 Diabetes Mellitus, Neonatal, with Congenital Hypothyroidism 28 0.065
97
BLD163 Blood Group, Dombrock System 23 0.063
98
P CFF008 Coffin-Siris Syndrome 1 59 0.063
99
DRM041 Dermoid Cysts, Familial Frontonasal 23 0.063
100
DST035 Distal Trisomy 18q 16 0.063
101
NSL017 Nasolacrimal Duct Cyst 15 0.063
102
SMT004 Smith-Lemli-Opitz Syndrome 70 0.061
103
P KLL001 Kallmann Syndrome 63 0.061
104
ECT042 Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/palate Syndrome 3 51 0.061
105
c ART061 Arthrogryposis, Distal, Type 2a 45 0.061
106
LRY029 Laryngomalacia 43 0.061
107
IFP001 Ifap Syndrome with or Without Bresheck Syndrome 40 0.061
108
FCL068 Facial Dysmorphism-Anorexia-Cachexia-Eye and Skin Anomalies Syndrome 27 0.061
109
P PHC014 Phocomelia 20 0.061
110
ACR058 Acrofacial Dysostosis 1, Nager Type 46 0.060
111
PCT003 Pectus Excavatum 44 0.060
112
c SPN310 Spondylocostal Dysostosis 1, Autosomal Recessive 41 0.057
113
HYP748 Hypertelorism 46 0.054
114
LCR014 Lacrimoauriculodentodigital Syndrome 59 0.054
115
P HYD033 Hydrolethalus Syndrome 1 54 0.054
116
c NRD033 Neurodegeneration with Brain Iron Accumulation 2a 54 0.054
117
SWN003 Sweeney-Cox Syndrome 15 0.052
118
LPD016 Lipoid Proteinosis of Urbach and Wiethe 54 0.051
119
c PLY149 Polydactyly, Preaxial Iv 27 0.051
120
c BRT038 Baraitser-Winter Syndrome 1 37 0.050
121
c DFN360 Deafness, Autosomal Dominant 69 30 0.049
122
P PLR004 Pleuropulmonary Blastoma 62 0.047
123
P FNC043 Fanconi Anemia, Complementation Group E 52 0.047
124
c GRV008 Graves Disease 1 52 0.047
125
CHR543 Chromosome 2q37 Deletion Syndrome 34 0.047
126
CRP032 Corpus Callosum, Agenesis of 40 0.045
127
PST086 Posterior Cortical Atrophy 38 0.045
128
DFN344 Deafness, Onychodystrophy, Osteodystrophy, Mental Retardation, and Seizures Syndrome 38 0.045
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