Microhydranencephaly (MHAC) is a serious developmental brain anomaly characterized by microcephaly with severe reduction of brain hemispheres and intracranial space filled with cerebrospinal fluid without signs of intracranial hypertension. In the patients with MHAC, homozygous mutations in NDE1 gene have been identified.
Category
Congenital malformation
Brite
Human diseases in ICD-11 classification [BR:br08403]
20 Developmental anomalies
Structural developmental anomalies primarily affecting one body system
Structural developmental anomalies of the nervous system
LA05 Cerebral structural developmental anomalies
H01870 Microhydranencephaly
Pathway-based classification of diseases [BR:br08402]
Cellular process
nt06515 Regulation of kinetochore-microtubule interactions
H01870 Microhydranencephaly
nt06541 Cytoskeleton in neurons
H01870 Microhydranencephaly
Network
nt06515 Regulation of kinetochore-microtubule interactions nt06541 Cytoskeleton in neurons
In utero brain destruction resulting in collapse of the fetal skull, microcephaly, scalp rugae, and neurologic impairment: the fetal brain disruption sequence.
Behunova J, Zavadilikova E, Bozoglu TM, Gunduz A, Tolun A, Yalcinkaya C
Title
Familial microhydranencephaly, a family that does not map to 16p13.13-p12.2: relationship with hereditary fetal brain degeneration and fetal brain disruption sequence.
