X-Linked Syndromic Mental Retardation Type Claes-Jensen (Syndromic X-linked Intellectual Disability due to JARID1C Mutation): Symptoms, Diagnosis and Treatment - Symptoma

X-Linked Syndromic Mental Retardation Type Claes-Jensen

Syndromic X-linked Intellectual Disability due to JARID1C Mutation

Presentation

Neurologic

Spastic Paraplegia

[…] ataxia, Charlevoix-Saguenay type 270550 SPG11 Spastic paraplegia 11, autosomal recessive 604360 SPG7 Spastic paraplegia 7, autosomal recessive 607259 SMN1 Spinal muscular atrophy, type I 253300 HEXA Tay-Sachs; GM2-gangliosidosis, several forms 272800 [qgenomics.com]