| umls-concept:C0796135 | skos:definition | JABL: Psychomotor retardation, short stature, microcephaly, eye defects, and small testes are the principal manifestations.,JABL: Mental retardation syndrome with microcephaly, brachycephaly, spastic diplegia, small testes, and possibly intra-uterine growth retardation.,JABL: Mental retardation with growth deficiency, craniofacial deformities, heart defects, and dry and brittle hair. This and X-linked mental retardation 1 are considered similar but separate entities. | lld:umls |
