MENTAL RETARDATION, AUTOSOMAL DOMINANT 24

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 12
OrphanetNr:
OMIM Id: 615828
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:0010804) Tented upper lip vermilion 47 / 7739
2
 (HPO:0000303) Mandibular prognathia 179 / 7739
3
 (HPO:0011228) Horizontal eyebrow 2 / 7739
4
 (HPO:0000179) Thick lower lip vermilion 72 / 7739
5
 (HPO:0001263) Global developmental delay 853 / 7739
6
 (HPO:0001288) Gait disturbance 318 / 7739
7
 (HPO:0000817) Poor eye contact 26 / 7739
8
 (HPO:0000720) Mood swings 6 / 7739
9
 (HPO:0001249) Intellectual disability 1089 / 7739
10
 (HPO:0000718) Aggressive behavior 109 / 7739
11
 (HPO:0000960) Sacral dimple rare [HPO:skoehler] 29 / 7739
12
 (HPO:0002719) Recurrent infections 107 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: