neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies
MONDO:0032817Mondo
Findings
No curated finding names neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
39 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 speechHPOHP:0001344
- 8 of 8 reported patients
- CataractHPOHP:0000518
- 8 of 8 reported patients
- DolichocephalyHPOHP:0000268
- 3 of 3 reported patients
- Global developmental delayHPOHP:0001263
- 5 of 5 reported patients
- HypotoniaHPOHP:0001252
- 5 of 5 reported patients
- Severe global developmental delayHPOHP:0011344
- 3 of 3 reported patients
- Short statureHPOHP:0004322
- 3 of 3 reported patients
- Gait disturbanceHPOHP:0001288
- 7 of 8 reported patients
- HypertelorismHPOHP:0000316
- 7 of 8 reported patients
- Downturned corners of mouthHPOHP:0002714
- 4 of 5 reported patients
- MicroretrognathiaHPOHP:0000308
- 4 of 5 reported patients
- Wide nasal bridgeHPOHP:0000431
- 4 of 5 reported patients
Show the remaining 27
- Frontal bossingHPOHP:0002007
- 5 of 8 reported patients
- Overlapping toeHPOHP:0001845
- 5 of 8 reported patients
- Autistic behaviorHPOHP:0000729
- 3 of 5 reported patients
- Bulbous noseHPOHP:0000414
- 3 of 5 reported patients
- AstigmatismHPOHP:0000483
- 2 of 5 reported patients
- Deep philtrumHPOHP:0002002
- 2 of 5 reported patients
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.
- INTS1HGNC:24555
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2019
- Strong · G2P · Autosomal recessive · 2025
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Moderate · Ambry Genetics · Autosomal recessive · 2019