neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination
MONDO:0044306Mondo
Findings
No curated finding names neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Infantile onset
HPO, annotations 2026-09-02
Features
41 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.
- Broad nasal tipHPOHP:0000455
- 7 of 7 reported patients
- Occasional (5% to 29% of cases)
- Feeding difficultiesHPOHP:0011968
- 7 of 7 reported patients
- Global developmental delayHPOHP:0001263
- 7 of 7 reported patients
- Very frequent (80% to 99% of cases)
- Intellectual disabilityHPOHP:0001249
- 7 of 7 reported patients
- IrritabilityHPOHP:0000737
- 7 of 7 reported patients
- Very frequent (80% to 99% of cases)
- SeizureHPOHP:0001250
- 7 of 7 reported patients
- Very frequent (80% to 99% of cases)
- HypotoniaHPOHP:0001252
- 6 of 7 reported patients
- Motor stereotypyHPOHP:0000733
- 6 of 7 reported patients
- Failure to thriveHPOHP:0001508
- 3 of 7 reported patients
- Very frequent (80% to 99% of cases)
- Feeding difficulties in infancyHPOHP:0008872
- Very frequent (80% to 99% of cases)
- Floppy infantHPOHP:0008947
- Very frequent (80% to 99% of cases)
- Stereotypical hand wringingHPOHP:0012171
- Very frequent (80% to 99% of cases)
Show the remaining 29
- CataractHPOHP:0000518
- 5 of 7 reported patients
- Secondary microcephalyHPOHP:0005484
- 5 of 7 reported patients
- Sleep disturbanceHPOHP:0002360
- 5 of 7 reported patients
- Frequent (30% to 79% of cases)
- HypsarrhythmiaHPOHP:0002521
- Frequent (30% to 79% of cases)
- MicrocephalyHPOHP:0000252
- Frequent (30% to 79% of cases)
- Profound intellectual disabilityHPOHP:0002187
- Frequent (30% to 79% of cases)
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.
- NACC1HGNC:20967
- Definitive · G2P · Autosomal dominant · 2017
- Strong · Ambry Genetics · Autosomal dominant · 2023
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2023
- Strong · PanelApp Australia · Autosomal dominant · 2025