No abstract available
MeSH terms
-
Abnormalities, Multiple / diagnosis
-
Adolescent
-
Adult
-
Albumins / cerebrospinal fluid
-
Autopsy
-
Brain / pathology
-
Bundle-Branch Block
-
Cerebellar Ataxia / diagnosis
-
Child
-
Child, Preschool
-
Chromosomes, Human, 6-12 and X
-
Deafness / diagnosis
-
Demyelinating Diseases / diagnosis*
-
Diagnosis, Differential
-
Dwarfism / diagnosis
-
Female
-
Humans
-
Infant
-
Intellectual Disability / diagnosis
-
Male
-
Ophthalmoplegia / diagnosis
-
Progeria / diagnosis
-
Refsum Disease / diagnosis
-
Retinitis Pigmentosa / diagnosis
-
Syndrome
-
Trisomy