has characteristic has characteristic has material basis in germline mutation in BCAP31 X-linked recessive inheritance syndrome caused by partial chromosomal deletion severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome https://github.com/monarch-initiative/mondo/issues/10298 https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/5588 https://www.malacards.org/card/deafness_dystonia_and_cerebral_hypomyelination MESH:C564508 OMIM:300475 MONDO:0010334 DDCH Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome is a rare genetic neurological disorder characterized by intrauterine growth retardation, failure to thrive, infantile onset of sensorineural deafness, severe global developmental delay or absent psychomotor development, paraplegia or quadriplegia with dystonia and pyramidal signs, microcephaly, ocular abnormalities (strabismus, optic atrophy), mildly dysmorphic features (deep-set eyes, prominent nasal bridge, micrognathia), seizures and abnormalities of brain morphology (hypomyelinating white matter changes, cerebral atrophy). Orphanet:369939 UMLS:C3806634 GARD:0017592 MEDGEN:812964 DOID:0112123 X-linked recessive disease inherited dystonia