title: [Bone fragility, amyotrophy, mental retardation and degenerative lesions of the central nervous system. A new familial disorder].
mesh_terms: D000690:Amyotrophic Lateral Sclerosis / Q000175:diagnosis; D001848:Bone Diseases, Developmental / Q000235:genetics*; D001862:Bone Resorption; D046508:Culture Techniques; D003711:Demyelinating Diseases / Q000151:congenital / Q000235:genetics*; D003937:Diagnosis, Differential; D002549:Diffuse Cerebral Sclerosis of Schilder / Q000175:diagnosis; D005347:Fibroblasts / Q000166:cytology; D005598:Fractures, Spontaneous; D006618:Hip Dislocation, Congenital / Q000235:genetics*; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D007966:Leukodystrophy, Metachromatic / Q000175:diagnosis; D009133:Muscular Atrophy / Q000151:congenital / Q000235:genetics*; D010024:Osteoporosis; D013344:Subacute Sclerosing Panencephalitis / Q000175:diagnosis
vernacular_title: Fragilití osseuse, amyotrophie, arriération et lésions dégénératives du système nerveux central.