HYDROCEPHALUS, NONSYNDROMIC, AUTOSOMAL RECESSIVE 2

General Information (adopted from Orphanet):

Synonyms, Signs: HYC2
Number of Symptoms 11
OrphanetNr:
OMIM Id: 615219
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive inheritance
[Omim]
Age of onset: Congenital onset
[Omim]

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
 (HPO:0000256) Macrocephaly 298 / 7739
2
 (HPO:0001250) Seizures 1245 / 7739
3
 (HPO:0001249) Intellectual disability 1089 / 7739
4
 (HPO:0009879) Cortical gyral simplification 24 / 7739
5
 (OMIM) Decreased IQ 3 / 7739
6
 (OMIM) Thinning of the cerebral cortex 1 / 7739
7
 (HPO:0000238) Hydrocephalus 278 / 7739
8
 (OMIM) Simplified gyration pattern 1 / 7739
9
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
10
 (HPO:0001334) Communicating hydrocephalus 32 / 7739
11
 (HPO:0003577) Congenital onset 133 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Al-Dosari et al. (2013) reported a consanguineous Saudi Arabian family in which several individuals had congenital communicating hydrocephalus. A 27-year-old unaffected pregnant woman presented at 30 weeks' gestation when ultrasound of the fetus showed extreme hydrocephalus with callosal ...
Molecular genetics OMIM In affected members of a consanguineous Saudi family with autosomal recessive nonsyndromic hydrocephalus-2, Al-Dosari et al. (2013) identified a homozygous truncating mutation in the MPDZ gene (Q210X; 603785.0001). The same homozygous mutation was identified in another Saudi patient ...