has material basis in germline mutation in AIFM1 spondyloepimetaphyseal dysplasia, Bieganski type https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/4948 https://github.com/monarch-initiative/mondo/issues/5280 https://www.malacards.org/card/spondyloepimetaphyseal_dysplasia_x_linked_with_hypomyelinating_leukodystrophy GARD:0004891 Orphanet:168448 Orphanet:83629 hypomyelination-spondyloepimetaphyseal dysplasia syndrome A rare genetic neurological disorder characterized by the association of hypomyelinating leukodystrophy with spondylometaphyseal dysplasia. Patients present in infancy with absent or delayed ability to walk independently, slowly progressive motor deterioration, spasticity, ataxia, proximal weakness, and joint contractures. Additional manifestations include mild cognitive impairment, short stature, scoliosis, enlarged and deformed joints, dysarthria, nystagmus, visual defects, and mildly dysmorphic features, among others. Mode of inheritance is X-linked recessive. leukoencephalopathy-SEMD syndrome LKMCD MEDGEN:335350 H-SMD MESH:C567065 leukoencephalopathy with metaphyseal chondrodysplasia leukoencephalopathy-metaphyseal chondrodysplasia syndrome spondyloepimetaphyseal dysplasia, X-linked, with hypomyelinating leukodystrophy, X-linked recessive icd11.foundation:1073330593 spondyloepimetaphyseal dysplasia X-linked with mental deterioration SEMD X-linked with mental deterioration MESH:C536671 UMLS:C1846148 MONDO:0010275 OMIM:300232 spondyloepiphyseal dysplasia spondyloepimetaphyseal dysplasia