Orphanet: X linked intellectual disability, Cilliers type

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X-linked intellectual disability, Cilliers type

Disease definition

A rare developmental defect characterized by mild intellectual deficit associated with short stature, hypergonadotropic hypogonadism, microcephaly and mild facial dysmorphism (deep-set eyes, prominent supraorbital ridges, a high nasal bridge and large ears).

ORPHA:163971

Classification level: Disorder

Synonym(s):
- X-linked intellectual disability-microcephaly-testicular failure syndrome
Prevalence: <1 / 1 000 000
Inheritance: X-linked recessive
Age of onset: Infancy, Neonatal
ICD-10: Q87.8
OMIM: -
UMLS: -
MeSH: -
GARD: -
MedDRA: -

Summary

Epidemiology

It has been described in four males from one family.

Etiology

The syndrome is mapped to the Xq25-q26 region of the X-chromosome.

Genetic counseling

The syndrome was transmitted in an X-linked recessive manner.

- Last update: May 2009

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X-linked intellectual disability, Cilliers type

ORPHA:163971

Summary

Epidemiology

Etiology

Genetic counseling

A summary on this disease is available in Deutsch (2009) Español (2009) Français (2009) Italiano (2009) Nederlands (2009) Português (2009)

Genetic Testing

Further information on this disease

Patient-centred resources for this disease

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