Disease #03888 (SMALED2A (atrophy, muscular, spinal, lower extremity predominant, type 2A), OMIM:615290)

Official abbreviation SMALED2A
Name atrophy, muscular, spinal, lower extremity predominant, type 2A
OMIM ID 615290
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal dominant
Individuals reported having this disease 2
Phenotype entries for this disease 2
Associated with 1 gene BICD2
Associated tissues -
Disease features autosomal dominant inheritance
Remarks -
Date created 2014-09-25 23:29:40 +02:00 (CEST)
Date last edited 2022-12-22 17:13:23 +01:00 (CET)


Individuals

2 entries on 1 page. Showing entries 1 - 2.
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00327457 mother 2-generation family, mother and newborn - F no Portugal - - - - - SMALED2A HP:0002650 scoliosis; HP:0001760 abnormal foot morphology; HP:0002804 arthrogryposis multiplex congenita; HP:0003202 skeletal muscle atrophy BICD2 BICD2 1 2 Francisco Ribeiro-Mourão
00327589 - - - M no Portugal - 00y01m - - - SMALED2A HP:0002747 Respiratory insufficiency due to muscle weakness; HP:0002878 Respiratory failure; HP:0011968 Feeding difficulties;HP:0003202 Skeletal muscle atrophy; HP:0001374 Congenital hip dislocation; HP:0001760 Abnormal foot morphology; HP:0001762 Talipes equinovarus; HP:0002804 Arthrogryposis multiplex congenita;HP:0002119 Ventriculomegaly; HP:0001558 Decreased fetal movement ASCC3, ATP7A, BICD2, CHCHD10, DNAJB2, EXOSC8, EXOSC9, FBXO38 BICD2 1 1 Francisco Ribeiro-Mourão
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