neurodegeneration, infantile-onset, biotin-responsive
MONDO:0033546Mondo
Findings
No curated finding names neurodegeneration, infantile-onset, biotin-responsive 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
- Infantile onset
HPO, annotations 2026-09-02
Features
18 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.
- Cerebral atrophyHPOHP:0002059
- 3 of 3 reported patients
- Cerebral palsyHPOHP:0100021
- 1 of 1 reported patient
- Decreased circulating IgG concentrationHPOHP:0004315
- 2 of 2 reported patients
- Gastrostomy tube feeding in infancyHPOHP:0011471
- 1 of 1 reported patient
- Global developmental delayHPOHP:0001263
- 1 of 1 reported patient
- Hypoplasia of the corpus callosumHPOHP:0002079
- 3 of 3 reported patients
- Hypoplasia of the ponsHPOHP:0012110
- 1 of 1 reported patient
- MicrocephalyHPOHP:0000252
- 3 of 3 reported patients
- NystagmusHPOHP:0000639
- 3 of 3 reported patients
- PolymicrogyriaHPOHP:0002126
- 1 of 1 reported patient
- Poor head controlHPOHP:0002421
- 1 of 1 reported patient
- Cerebellar atrophyHPOHP:0001272
- 1 of 2 reported patients
Show the remaining 6
- Clubbing of fingersHPOHP:0100759
- 1 of 2 reported patients
- Enlarged cisterna magnaHPOHP:0002280
- 1 of 2 reported patients
- Episodic vomitingHPOHP:0002572
- 1 of 2 reported patients
- SeizureHPOHP:0001250
- 1 of 2 reported patients
- SpasticityHPOHP:0001257
- 1 of 2 reported patients
- Peripheral neuropathyHPOHP:0009830
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.
- SLC5A6HGNC:11041
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
- Moderate · Ambry Genetics · Autosomal recessive · 2020
- Moderate · PanelApp Australia · Autosomal recessive · 2025
- Moderate · G2P · Autosomal recessive · 2025
Where it sits
- A kind of
Other names
3 names
Resolves to: neurodegeneration, infantile-onset, biotin-responsive
- Also called
- NERIBSMVT deficiencysodium-dependent multivitamin transporter deficiency