MENTAL RETARDATION, AUTOSOMAL DOMINANT 32

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 25
OrphanetNr:
OMIM Id: 616268
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:0000341) Narrow forehead 96 / 7739
2
 (HPO:0002714) Downturned corners of mouth 98 / 7739
3
 (HPO:0000219) Thin upper lip vermilion 112 / 7739
4
 (HPO:0000455) Broad nasal tip 67 / 7739
5
 (HPO:0000286) Epicanthus 371 / 7739
6
 (HPO:0001357) Plagiocephaly 106 / 7739
7
 (HPO:0001363) Craniosynostosis 132 / 7739
8
 (HPO:0000426) Prominent nasal bridge 121 / 7739
9
 (HPO:0000164) Abnormality of the teeth 291 / 7739
10
 (HPO:0000308) Microretrognathia 78 / 7739
11
 (HPO:0000252) Microcephaly 832 / 7739
12
 (HPO:0000508) Ptosis 459 / 7739
13
 (HPO:0100704) Cortical visual impairment 28 / 7739
14
 (HPO:0000486) Strabismus 576 / 7739
15
 (HPO:0000358) Posteriorly rotated ears 163 / 7739
16
 (HPO:0000369) Low-set ears 372 / 7739
17
 (HPO:0001263) Global developmental delay 853 / 7739
18
 (HPO:0001250) Seizures rare [HPO:skoehler] 1245 / 7739
19
 (HPO:0001249) Intellectual disability 1089 / 7739
20
 (HPO:0011968) Feeding difficulties 240 / 7739
21
 (HPO:0001629) Ventricular septal defect 316 / 7739
22
 (HPO:0001631) Atria septal defect 274 / 7739
23
 (HPO:0001643) Patent ductus arteriosus 228 / 7739
24
 (HPO:0002098) Respiratory distress 75 / 7739
25
 (HPO:0001252) Muscular hypotonia 990 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: