has material basis in germline mutation in PRUNE1 neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies https://github.com/monarch-initiative/mondo/issues/10531 https://github.com/monarch-initiative/mondo/issues/3680 https://www.malacards.org/card/neurodevelopmental_disorder_with_microcephaly_hypotonia_and_variable_brain_anomalies NMIHBA OMIM:617481 GARD:0017985 A rare genetic syndromic intellectual disability characterized by infantile onset of global developmental delay and profound intellectual disability in association with a heterogeneous spectrum of manifestations, such as features of lower motor neuron disease, hypotonia, spasticity, contractures, seizures, respiratory insufficiency, and optic atrophy, among others. Dysmorphic craniofacial features include microcephaly, tall forehead, bitemporal narrowing, flat nasal bridge, low-set ears, and high-arched palate. Brain imaging may show cerebral and cerebellar atrophy, delayed myelination, and thin corpus callosum. UMLS:C4479566 Orphanet:544469 PRUNE1-related neurological syndrome MEDGEN:1380860 neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies MONDO:0060490 Mendelian neurodevelopmental disorder neurodevelopmental disorder