Disease #02383 (DA2B1 (arthrogryposis, distal, type 2B1a), OMIM:601680)

Official abbreviation DA2B1
Name arthrogryposis, distal, type 2B1a
OMIM ID 601680
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal dominant
Individuals reported having this disease 1
Phenotype entries for this disease 1
Associated with 4 genes MYH3, TNNI2, TNNT3, TPM2
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

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00472233 - Verebi et al. (submitted) - M - France - - - - - DA2B1 Congenital myastenic syndrome, Neck muscle weakness, Ptosis, Dysphagia, Poor suck, Sudden episodic apnea, Fatigable weakness, Proximal muscle weakness, Frontalis muscle weakness, Intermittent episodes of respiratory insufficiency due to muscle weakness, Feeding difficulties, Decreased fetal movement, Difficulty walking, Easy fatigability, Spinal deformities, Motor delay, Dysphonia, Kyphoscoliosis, Spinal rigidity, Stridor, Low-set ears, Gastroesophageal reflux - MYH3 1 1 Camille Verebi
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