MENTAL RETARDATION, AUTOSOMAL RECESSIVE 35

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 16
OrphanetNr:
OMIM Id: 615162
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance:
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
 (HPO:0000347) Micrognathia 426 / 7739
2
 (HPO:0000445) Wide nose 190 / 7739
3
 (HPO:0000272) Malar flattening 277 / 7739
4
 (HPO:0009928) Thick nasal alae 21 / 7739
5
 (HPO:0000232) Everted lower lip vermilion 90 / 7739
6
 (HPO:0000664) Synophrys 112 / 7739
7
 (HPO:0000316) Hypertelorism 644 / 7739
8
 (HPO:0000348) High forehead 157 / 7739
9
 (HPO:0000337) Broad forehead 116 / 7739
10
 (HPO:0005469) Flat occiput 30 / 7739
11
 (HPO:0000369) Low-set ears 372 / 7739
12
 (HPO:0001263) Global developmental delay 853 / 7739
13
 (HPO:0001249) Intellectual disability 1089 / 7739
14
 (HPO:0003022) Hypoplasia of the ulna 40 / 7739
15
 (HPO:0001007) Hirsutism 91 / 7739
16
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: