X-linked intellectual disability, Cilliers type

MedGen UID:: 930693
•Concept ID:: C4305024
•: Disease or Syndrome

Synonyms:	X-linked intellectual disability Cilliers type; X-linked intellectual disability, microcephaly, testicular failure syndrome; X-linked intellectual disability-microcephaly-testicular failure syndrome
SNOMED CT:	X-linked intellectual disability Cilliers type (719013004); X-linked intellectual disability, microcephaly, testicular failure syndrome (719013004)
Modes of inheritance:	X-linked recessive inheritance MedGen UID: 375779 •Concept ID: C1845977 • Finding Source: Orphanet A mode of inheritance that is observed for recessive traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked recessive disorders manifest in males (who have one copy of the X chromosome and are thus hemizygotes), but generally not in female heterozygotes who have one mutant and one normal allele. See: This record X-linked recessive inheritance (Orphanet)

Monarch Initiative:	MONDO:0015600
Orphanet:	ORPHA163971

Definition

X-linked intellectual deficit Cilliers type has characteristics of 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). It has been described in four males from one family. The syndrome is mapped to the Xq25-q26 region of the X-chromosome. The syndrome is transmitted in an X-linked recessive manner. [from SNOMEDCT_US]

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CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVX-linked intellectual disability, Cilliers type

Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
- X-linked intellectual disability, Cilliers type

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X-linked intellectual disability, Cilliers type

Definition

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