X-linked intellectual disability, Stoll type

MedGen UID:: 930744
•Concept ID:: C4305075
•: Disease or Syndrome

Synonym:	X-linked intellectual disability Stoll type
SNOMED CT:	X-linked intellectual disability Stoll type (718911005)
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:0019423
Orphanet:	ORPHA85326

Definition

This syndrome has manifestations of intellectual deficit, short stature and characteristic facies (hypertelorism, prominent forehead, frontal bossing, a broad nasal tip and anteverted nares). It has been described in four males from three generations of the same family. Two females from this family also displayed intellectual deficit and the characteristic facies. Transmission is X-linked. [from SNOMEDCT_US]

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GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVX-linked intellectual disability, Stoll type

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

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X-linked intellectual disability, Stoll type

Definition

Term Hierarchy

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