spinal muscular atrophy, distal, autosomal recessive, 6
MONDO:0859279Mondo
Findings
No curated finding names spinal muscular atrophy, distal, autosomal recessive, 6 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Congenital onset
HPO, annotations 2026-09-02
Features
25 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Absent Achilles reflexHPOHP:0003438
- 1 of 1 reported patient
- Arthrogryposis-like hand anomalyHPOHP:0005612
- 1 of 1 reported patient
- Axonal degenerationHPOHP:0040078
- 2 of 2 reported patients
- Craniofacial dystoniaHPOHP:0012179
- 1 of 1 reported patient
- Developmental regressionHPOHP:0002376
- 1 of 1 reported patient
- Diaphragmatic eventrationHPOHP:0009110
- 1 of 1 reported patient
- Diaphragmatic paralysisHPOHP:0006597
- 1 of 1 reported patient
- Distal arthrogryposisHPOHP:0005684
- 1 of 1 reported patient
- Distal muscle weaknessHPOHP:0002460
- 2 of 2 reported patients
- Fiber type groupingHPOHP:0033685
- 1 of 1 reported patient
- Foot dorsiflexor weaknessHPOHP:0009027
- 1 of 1 reported patient
- Frequent fallsHPOHP:0002359
- 1 of 1 reported patient
Show the remaining 13
- Global developmental delayHPOHP:0001263
- 1 of 1 reported patient
- High palateHPOHP:0000218
- 1 of 1 reported patient
- HyporeflexiaHPOHP:0001265
- 1 of 1 reported patient
- HypotoniaHPOHP:0001252
- 1 of 1 reported patient
- Paradoxical respirationHPOHP:0030207
- 1 of 1 reported patient · Infantile onset
- Peripheral axonal neuropathyHPOHP:0003477
- 1 of 1 reported patient
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- REEP1HGNC:25786
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Limited · Ambry Genetics · Autosomal recessive · 2022
- Limited · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2022
Where it sits
Other names
1 name
Resolves to: spinal muscular atrophy, distal, autosomal recessive, 6
- Also called
- DSMA6