microcephalic primordial dwarfism due to ZNF335 deficiency https://github.com/monarch-initiative/mondo/issues/6751 https://www.malacards.org/card/microcephalic_primordial_dwarfism_due_to_znf335_deficiency https://www.malacards.org/card/microcephaly_10_primary_autosomal_recessive MCPH10 Orphanet:329228 DOID:0070294 SCTID:724141003 OMIM:615095 MONDO:0014043 UMLS:C3554499 microcephalic primordial dwarfism, Walsh type microcephaly 10, primary, autosomal recessive Microcephalic primordial dwarfism due to ZNF335 deficiency is characterized by severe antenatal microencephaly, simplified gyration, agenesis of the corpus callosum, absence of basal ganglia (very rare), pontocerebellar atrophy and involvement of the white matter with secondary cerebral atrophy. Congenital cataract, choanal atresia, multiple arthrogryposis and spastic tetraparesis can occur. MEDGEN:767413 GARD:0017498 autosomal recessive primary microcephaly skeletal dysplasia obsolete_microcephalic primordial dwarfism due to ZNF335 deficiency