A new familial metabolic disorder with progressive osseous changes, microcephaly, coarse facies, flat nasal bridge and severe mental retardation.
D000293:Adolescent; D000328:Adult; D001827:Body Height; D001848:Bone Diseases, Developmental / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D005145:Face; D005260:Female; D005808:Genes, Recessive; D006801:Humans; D008607:Intellectual Disability; D008297:Male; D008661:Metabolism, Inborn Errors / Q000235:genetics*; D008831:Microcephaly / Q000235:genetics*; D009667:Nose Deformities, Acquired / Q000235:genetics*; D013577:Syndrome