multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome

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