MENTAL RETARDATION, AUTOSOMAL DOMINANT 29

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 17
OrphanetNr:
OMIM Id: 616078
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:0000189) Narrow palate 45 / 7739
2
 (HPO:0000678) Dental crowding 65 / 7739
3
 (HPO:0000219) Thin upper lip vermilion 112 / 7739
4
 (HPO:0000248) Brachycephaly 222 / 7739
5
 (HPO:0000307) Pointed chin 45 / 7739
6
 (HPO:0000218) High palate 356 / 7739
7
 (HPO:0000664) Synophrys 112 / 7739
8
 (HPO:0000276) Long face 109 / 7739
9
 (HPO:0000494) Downslanted palpebral fissures 328 / 7739
10
 (HPO:0000316) Hypertelorism 644 / 7739
11
 (HPO:0000508) Ptosis 459 / 7739
12
 (HPO:0000369) Low-set ears 372 / 7739
13
 (HPO:0007018) Attention deficit hyperactivity disorder 56 / 7739
14
 (HPO:0001270) Motor delay 322 / 7739
15
 (HPO:0001250) Seizures rare [HPO:skoehler] 1245 / 7739
16
 (HPO:0001344) Absent speech 57 / 7739
17
 (HPO:0001249) Intellectual disability 1089 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: