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Items: 4

1.

Hydrocephalus

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 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 autosomal recessive HYC2 (615219), caused by mutation in the MPDZ gene (603785) on chromosome 9p. An X-linked form (307000) is caused by mutation in the L1CAM gene on (308840) on chromosome Xq28. [from OMIM]

MedGen UID:
9335
Concept ID:
C0020255
Disease or Syndrome
2.

Normal pressure hydrocephalus

A form of hydrocephalus characterized by enlarged cerebral ventricles and normal cerebrospinal fluid (CSF) pressure upon lumbar puncture. [from HPO]

MedGen UID:
505206
Concept ID:
CN002127
Finding
3.

Hydrocephalus

MedGen UID:
369747
Concept ID:
C1963137
Finding; Pathologic Function
4.

Normal pressure hydrocephalus

A form of hydrocephalus characterized by enlarged cerebral ventricles and normal cerebrospinal fluid (CSF) pressure upon lumbar puncture. [from HPO]

MedGen UID:
42526
Concept ID:
C0020258
Disease or Syndrome
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