MICROCEPHALY 13, PRIMARY, AUTOSOMAL RECESSIVE

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 8
OrphanetNr:
OMIM Id: 616051
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:0000311) Round face 104 / 7739
2
(HPO:0000347) Micrognathia 426 / 7739
3
(HPO:0000448) Prominent nose 56 / 7739
4
(HPO:0000340) Sloping forehead 86 / 7739
5
(HPO:0000252) Microcephaly 832 / 7739
6
(HPO:0200055) Small hand 71 / 7739
7
(HPO:0001773) Short foot 86 / 7739
8
(HPO:0001511) Intrauterine growth retardation 358 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: