Disease #00154 (ATRX (Alpha-thalassemia Mental Retardation Syndrome), OMIM:301040)

Official abbreviation ATRX
Name Alpha-thalassemia Mental Retardation Syndrome
OMIM ID 301040
Human Phenotype Ontology Project (HPO) HPO
Inheritance X-linked dominant
Individuals reported having this disease 2
Phenotype entries for this disease 2
Associated with 1 gene ATRX
Associated tissues -
Disease features -
Remarks -


Individuals

2 entries on 1 page. Showing entries 1 - 2.
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00000779 Zarina A. Latiff et al.(2013) M Malaysia - - - - ATRX Arched and thick eyebrows without synophyrys, Narrow down-slanting palpebral fissures, Flat nose and short philtrum, Anteriorly rotated ears with over folded helix, Thick and furrowed tongue, Micrognathia, widely spaced teeth and a short uvula, Generally short fingers with clinodactyly and increased nailbed curvature ATRX ATRX 1 1 Nur Aisyah Athirah
00000780 Zarina A. Latiff et al.(2013) M Malaysia - - - - ATRX Frontal cowlick with mild synophyrys, Prominent left epicanthic fold, a short nose with anteverted nares, Smooth philtrum with relative microstomia Small, low-set and anteriorly rotated ears, Short fingers with normal nails, Bilateral congenital talipes equinovarus and Bifid scrotum with bilateral undescended testes ATRX ATRX 1 1 Nur Aisyah Athirah
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