Orphanet: KDM5C related syndromic X linked intellectual disability

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KDM5C-related syndromic X-linked intellectual disability

Disease definition

A rare multiple congenital anomalies/dysmorphic syndrome characterized by mild to severe intellectual deficit associated with variable clinical manifestations including spasticity, cryptorchidism, maxillary hypoplasia, alopecia areata, epilepsy, short stature, impaired speech, and behavioral problems.

ORPHA:85279

Classification level: Disorder

Synonym(s): -
Prevalence: <1 / 1 000 000
Inheritance: X-linked recessive
Age of onset: Childhood
ICD-10: Q87.8
ICD-11: LD90
OMIM: 300534
UMLS: C1845243
MeSH: -
GARD: -
MedDRA: -

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KDM5C-related syndromic X-linked intellectual disability

ORPHA:85279

A summary on this disease is available in Deutsch (2007) Español (2007) Français (2007) Italiano (2007) Nederlands (2007)

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