Hydrocephalus, congenital, 2, with or without brain or eye anomalies

Alternative Names

  • HYC2
  • Hydrocephalus, Nonsyndromic, Autosomal Recessive 2
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WHO-ICD-10 version:2010

Congenital malformations, deformations and chromosomal abnormalities

Congenital malformations of the nervous system

OMIM Number

615219

Mode of Inheritance

Autosomal recessive

Gene Map Locus

9p23

Description

Congenital hydrocephalus-2 is a congenital disorder with onset in utero. Affected individuals have hydrocephalus with variably dilated ventricles and variable neurologic sequelae. Some individuals have other brain abnormalities, including lissencephaly, thinning of the corpus callosum, and neuronal heterotopia. Most patients have delayed motor development and some have delayed intellectual development and/or seizures. Additional congenital features, including cardiac septal defects, iris coloboma, and nonspecific dysmorphic features, may be observed. Some patients die in utero, in infancy, or in early childhood, whereas others have long-term survival. [From OMIM]

Epidemiology in the Arab World

View Map
Subject IDCountrySexFamily HistoryParental ConsanguinityHPO TermsVariantZygosityMode of InheritanceReferenceRemarks
615219.1United Arab Emirates Communicating hydrocephalus... NM_003829.5:c.394G>A, NM_003829.5:c.1744C>GHeterozygousAutosomal, RecessiveAl-Shamsi et al. 2016 Compound heterozygou...
615219.2.1United Arab EmiratesMaleYesNo Hydrocephalus; Macrocephaly; Frontal bos... NM_003829.5:c.394G>A, NM_003829.5:c.1744C>GHeterozygousAutosomal, RecessiveAl-Jezawi et al. 2018 Proband
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