A rare autosomal recessive inherited syndrome caused by mutations in the ATR gene, RBBP8 gene, CENPJ gene, CEP152 gene, CEP63 gene, NIN gene, DNA2 gene, or TRAIP gene. It is characterized by intrauterine growth retardation, dwarfism, microcephaly, mental retardation, and a "bird-headed" facial appearance.
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immunodeficiency-centromeric instability-facial anomalies syndrome
MONDO:0000133
Neu-Laxova syndrome
MONDO:0000179
hypercalcemia, infantile
MONDO:0000212
Ochoa syndrome
MONDO:0000463
inclusion body myopathy with Paget disease of bone and frontotemporal dementia
MONDO:0000507
syndromic intellectual disability
MONDO:0000508