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Hydrocephalus, nonsyndromic, autosomal recessive 1(HYC1)

MedGen UID:
Concept ID:
Disease or Syndrome
Synonyms: Congenital hydrocephalus 1; Hydrocephalus, nonsyndromic, autosomal recessive; Nonsyndromic Hydrocephalus, CCDC88C-Related
Gene (location): CCDC88C (14q32.11-32.12)
Monarch Initiative: MONDO:0009360
OMIM®: 236600


Congenital hydrocephalus-1 (HYC1) 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 be caused by Arnold-Chiari malformation, atresia of foramen of Magendie, stenosis of aqueduct of Sylvius (307000), toxoplasmosis, hydranencephaly, etc. Furthermore, it develops in infancy or childhood in achondroplasia (100800) and in Hurler disease (607014). Genetic Heterogeneity of Congenital Hydrocephalus See also HYC2 (615219), caused by mutation in the MPDZ gene (603785) on chromosome 9p23; HYC3 (617967), caused by mutation in the WDR81 gene (614218) on chromosome 17p13; HYC4 (618667), caused by mutation in the TRIM71 gene (618570) on chromosome 3p22; and HYC5 (620241), caused by mutation in the SMARCC1 gene (601732) on chromosome 3p23. An X-linked form of congenital hydrocephalus (HSAS, HYCX; 307000) is caused by mutation in the L1CAM gene on (308840) on chromosome Xq28. [from OMIM]

Clinical features

From HPO
MedGen UID:
Concept ID:
Disease or Syndrome
Hydrocephalus is an active distension of the ventricular system of the brain resulting from inadequate passage of CSF from its point of production within the cerebral ventricles to its point of absorption into the systemic circulation.
MedGen UID:
Concept ID:
Sign or Symptom
A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain.
MedGen UID:
Concept ID:
An increase in size of the ventricular system of the brain.
Intellectual disability
MedGen UID:
Concept ID:
Mental or Behavioral Dysfunction
Intellectual disability, previously referred to as mental retardation, is characterized by subnormal intellectual functioning that occurs during the developmental period. It is defined by an IQ score below 70.

Recent clinical studies


Al-Dosari MS, Al-Owain M, Tulbah M, Kurdi W, Adly N, Al-Hemidan A, Masoodi TA, Albash B, Alkuraya FS
J Med Genet 2013 Jan;50(1):54-8. doi: 10.1136/jmedgenet-2012-101294. PMID: 23240096

Clinical prediction guides

Saugier-Veber P, Marguet F, Lecoquierre F, Adle-Biassette H, Guimiot F, Cipriani S, Patrier S, Brasseur-Daudruy M, Goldenberg A, Layet V, Capri Y, Gérard M, Frébourg T, Laquerrière A
Acta Neuropathol Commun 2017 May 1;5(1):36. doi: 10.1186/s40478-017-0438-4. PMID: 28460636Free PMC Article

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