Prepair 1000+

Gene: MPDZ

Green List (high evidence)

OMIM: Congenital hydrocephalus-2 (HYC2) 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 (summary by Shaheen et al., 2017).

Highly variable severity, congenital defects aside from hydrocephalus are variable, some patients may have normal neurologic development, whereas other may die in infancy

Created: 11 Oct 2024, 4:21 a.m. | Last Modified: 11 Oct 2024, 4:21 a.m.

Panel Version: 1.390

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Hydrocephalus, congenital, 2, with or without brain or eye anomalies MIM#615219