Disease #03629 (EMARDD (myopathy, areflexia, respiratory distress, and dysphagia, early-onset), OMIM:614399)

Official abbreviation EMARDD
Name myopathy, areflexia, respiratory distress, and dysphagia, early-onset
OMIM ID 614399
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal recessive
Individuals reported having this disease 2
Phenotype entries for this disease 3
Associated with 1 gene MEGF10
Associated tissues -
Disease features -
Remarks -
Date created 2014-09-25 23:29:40 +02:00 (CEST)
Date last edited 2021-12-10 21:51:32 +01:00 (CET)


Individuals

2 entries on 1 page. Showing entries 1 - 2.
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00472198 - Verebi et al. (submitted) - M - France - - - - - EMARDD Generalized amyotrophy * Long face * Hypomimic face * Ptosis Abnormality of the voice * Scoliosis * Spinal rigidity * Equinus calcaneus * Velopharyngeal insufficiency * Gastroesophageal reflux * Motor delay * Abnormality of the musculature of the neck * Neonatal hypotonia - MEGF10 2 1 Camille Verebi
00472210 - Verebi et al. (submitted) - M - France - - - - - EMARDD Distal muscle weakness * Myopathy * Musculotendinous retraction - MEGF10 2 1 Camille Verebi
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