MENTAL RETARDATION, AUTOSOMAL DOMINANT 23

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 17
OrphanetNr:
OMIM Id: 615761
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:0000047) Hypospadias 250 / 7739
2
 (HPO:0000028) Cryptorchidism 347 / 7739
3
 (HPO:0000664) Synophrys 112 / 7739
4
 (HPO:0000347) Micrognathia 426 / 7739
5
 (HPO:0000582) Upslanted palpebral fissure 185 / 7739
6
 (HPO:0005280) Depressed nasal bridge 381 / 7739
7
 (HPO:0000678) Dental crowding 65 / 7739
8
 (HPO:0000219) Thin upper lip vermilion 112 / 7739
9
 (HPO:0000248) Brachycephaly 222 / 7739
10
 (HPO:0002307) Drooling 43 / 7739
11
 (HPO:0000722) Obsessive-compulsive behavior 35 / 7739
12
 (HPO:0000750) Delayed speech and language development 197 / 7739
13
 (HPO:0001249) Intellectual disability 1089 / 7739
14
 (HPO:0001263) Global developmental delay 853 / 7739
15
 (HPO:0002650) Scoliosis 705 / 7739
16
 (HPO:0003307) Hyperlordosis 122 / 7739
17
 (HPO:0002808) Kyphosis 289 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: