HYDROCEPHALUS, NONSYNDROMIC, AUTOSOMAL RECESSIVE 1

General Information (adopted from Orphanet):

Synonyms, Signs: VENTRICULOMEGALY
HYDROCEPHALY
HYC1
Number of Symptoms 5
OrphanetNr:
OMIM Id: 236600
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:0001250) Seizures 1245 / 7739
2
(HPO:0001249) Intellectual disability 1089 / 7739
3
(HPO:0002119) Ventriculomegaly 253 / 7739
4
(HPO:0000238) Hydrocephalus 278 / 7739
5
(OMIM) Poor motor development 3 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Autosomal recessive nonsyndromic hydrocephalus is characterized by onset in utero of enlarged ventricles due to a disturbance of cerebrospinal fluid accumulation. Affected individuals may have neurologic impairment (summary by Drielsma et al., 2012).

Hydrocephalus can also ...

Clinical Description OMIM Ekici et al. (2010) reported a girl, born of consanguineous parents of Algerian origin, with congenital nonsyndromic hydrocephalus. Fetal ultrasound at 25 weeks' gestation showed enlarged ventricles. Brain MRI at age 3 days showed dilatation of the lateral ...
Molecular genetics OMIM In a girl, born of consanguineous parents, with nonsyndromic hydrocephalus, Ekici et al. (2010) identified a homozygous splice site mutation in the CCDC88C gene (611204.0001), resulting in premature termination. An affected fetus, a sib of the girl, was ...