Disease #05305 (RDEOA (dystrophy, retinal, with/without extraocular anomalies (RDEOA)), OMIM:617175)

Official abbreviation RDEOA
Name dystrophy, retinal, with/without extraocular anomalies (RDEOA)
OMIM ID 617175
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal recessive
Individuals reported having this disease 1
Phenotype entries for this disease 1
Associated with 1 gene RCBTB1
Associated tissues -
Disease features -
Remarks -
Date created 2017-07-14 18:34:11 +02:00 (CEST)
Date last edited 2021-12-10 21:51:32 +01:00 (CET)


Individuals

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00225635 - PubMed: Srivastava 2017 1 affected M ? - European - - - - RDEOA Ataxia (HP:0001251); Seizures (HP:0001250); Dysarthria (HP:0001260); Peripheral neuropathy (HP:0009830); Motor delay (HP:0001270); Short stature (HP:0004322); Bifid uvula (HP:0000193); Submucous cleft palate (HP:0011819); Optic atrophy (HP:0000648); Pigmentary retinopathy(HP:0000580); Blindness (HP:0000618); Delayed speech and language development (HP:0000750); Esotropia (HP:0000565); Nystagmus (HP:0000639); Muscular hypotonia of the trunk (HP:0008936); Appendicular hypertonia ACO2 ACO2 2 1 Thomas Foulonneau
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