Intellectual Development Disorder with Short Stature, Facial Anomalies and Speech defects

Alternative Names

  • Mental Retardation, Short Stature, Facial Anomalies, and Joint Dislocations
  • IDDSFAS
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WHO-ICD-10 version:2010

Mental and behavioural disorders

Mental retardation

OMIM Number

606220

Mode of Inheritance

Autosomal recesisve

Gene Map Locus

13q22.3

Description

IDDSFAS is an extremely rare autosomal recessive disorder characterized by severe intellectual deficiency, facial dysmorphism, short stature and speec defects. The dysmorphic features include a bulbuos nose, and microretrognathia. 

Causal mutations in the FBXL3 gene are known to result in this condition. 

Epidemiology in the Arab World

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Subject IDCountrySexFamily HistoryParental ConsanguinityHPO TermsVariantZygosityMode of InheritanceReferenceRemarks
606220.1.1LebanonFemaleYesYes Intellectual disability, severe ; Shor...NM_012158.3:c.445C>THomozygousAutosomal, RecessiveAnsar et al, 2019; Mégarbané and Cormier-Daire, 2001
606220.1.2LebanonFemaleYesYes Intellectual disability, severe ; Short...NM_012158.3:c.445C>THomozygousAutosomal, RecessiveAnsar et al, 2019; Mégarbané and Cormier-Daire, 2001 Sibling of 606220.1....
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