Microhydranencephaly (MHAC) is a severe abnormality of brain development characterized by both microcephaly and hydranencephaly.[1] Signs and symptoms may include severe microcephaly, scalp rugae (a series of ridges), and profound intellectual disability. Familial occurrence of the condition is very rare but it has been reported in a few families. It has been suggested that some cases of MHAC are inherited in an autosomal recessive manner via a loss-of-function mutation of the gene NDE1.[1][2]
^ abBehunova, Jana; Zavadilikova, Eva; Bozoglu, Tarik M.; Gunduz, Aysegul; Tolun, Aslihan; Yalcinkaya, Cengiz (2010-01-01). "Familial microhydranencephaly, a family that does not map to 16p13.13-p12.2: relationship with hereditary fetal brain degeneration and fetal brain disruption sequence". Clinical Dysmorphology. 19 (3): 107–118. doi:10.1097/mcd.0b013e32833946e9. PMID 20375726. S2CID 30667255.
Microhydranencephaly (MHAC) is a severe abnormality of brain development characterized by both microcephaly and hydranencephaly. Signs and symptoms may...
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