MCID: MNT315
MIFTS: 14

Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, and Facial Dysmorphism

Categories: Mental diseases, Neuronal diseases

Aliases & Classifications for Mental Retardation, Microcephaly, Growth Retardation, Joint...

MalaCards integrated aliases for Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, and Facial Dysmorphism:

Name: Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, and Facial Dysmorphism 57 73
Kondoh Syndrome 57 13

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
mental retardation, microcephaly, growth retardation, joint contractures, and facial dysmorphism:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Mental Retardation, Microcephaly, Growth Retardation, Joint...

MalaCards based summary : Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, and Facial Dysmorphism, is also known as kondoh syndrome. An important gene associated with Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, and Facial Dysmorphism is KONDS (Kondoh Syndrome). Related phenotypes are ptosis and intellectual disability

Description from OMIM: 606242

Related Diseases for Mental Retardation, Microcephaly, Growth Retardation, Joint...

Symptoms & Phenotypes for Mental Retardation, Microcephaly, Growth Retardation, Joint...

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
ptosis

Growth Height:
short stature

Skin Nails Hair Hair:
sparse hair
widow's peak
thick eyebrows

Head And Neck Mouth:
thin upper lip

Skeletal Limbs:
knee contracture

Skeletal Hands:
polydactyly, preaxial
interphalangeal joint contractures

Head And Neck Head:
microcephaly

Head And Neck Nose:
long philtrum
pear-shaped nose
narrow alae nasi

Skin Nails Hair Skin:
atopic dermatitis

Neurologic Central Nervous System:
mental retardation

Growth Other:
prenatal-onset growth retardation


Clinical features from OMIM:

606242

Human phenotypes related to Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, and Facial Dysmorphism:

32 (show all 16)
# Description HPO Frequency HPO Source Accession
1 ptosis 32 HP:0000508
2 intellectual disability 32 HP:0001249
3 abnormal facial shape 32 HP:0001999
4 microcephaly 32 HP:0000252
5 thick eyebrow 32 HP:0000574
6 short stature 32 HP:0004322
7 long philtrum 32 HP:0000343
8 intrauterine growth retardation 32 HP:0001511
9 thin upper lip vermilion 32 HP:0000219
10 preaxial hand polydactyly 32 HP:0001177
11 sparse hair 32 HP:0008070
12 knee flexion contracture 32 HP:0006380
13 atopic dermatitis 32 HP:0001047
14 widow's peak 32 HP:0000349
15 pear-shaped nose 32 HP:0000447
16 interphalangeal joint contracture of finger 32 HP:0001220

Drugs & Therapeutics for Mental Retardation, Microcephaly, Growth Retardation, Joint...

Search Clinical Trials , NIH Clinical Center for Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, and Facial Dysmorphism

Genetic Tests for Mental Retardation, Microcephaly, Growth Retardation, Joint...

Anatomical Context for Mental Retardation, Microcephaly, Growth Retardation, Joint...

Publications for Mental Retardation, Microcephaly, Growth Retardation, Joint...

Variations for Mental Retardation, Microcephaly, Growth Retardation, Joint...

Expression for Mental Retardation, Microcephaly, Growth Retardation, Joint...

Search GEO for disease gene expression data for Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, and Facial Dysmorphism.

Pathways for Mental Retardation, Microcephaly, Growth Retardation, Joint...

GO Terms for Mental Retardation, Microcephaly, Growth Retardation, Joint...

Sources for Mental Retardation, Microcephaly, Growth Retardation, Joint...

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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