psychomotor retardation, epilepsy, and craniofacial dysmorphism
MONDO:0013787Mondo
Findings
No curated finding names psychomotor retardation, epilepsy, and craniofacial dysmorphism 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
28 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 jawHPOHP:0012802
- 2 of 2 reported patients
- Broad thumbHPOHP:0011304
- 2 of 2 reported patients
- Bulbous noseHPOHP:0000414
- 2 of 2 reported patients
- CNS hypomyelinationHPOHP:0003429
- 2 of 2 reported patients
- Exaggerated cupid's bowHPOHP:0002263
- 35 of 35 reported patients
- Feeding difficultiesHPOHP:0011968
- 35 of 35 reported patients · Neonatal onset
- High palateHPOHP:0000218
- 35 of 35 reported patients
- Hypoplasia of the corpus callosumHPOHP:0002079
- 2 of 2 reported patients
- HyporeflexiaHPOHP:0001265
- 35 of 35 reported patients
- HypotoniaHPOHP:0001252
- 35 of 35 reported patients
- SeizureHPOHP:0001250
- 37 of 37 reported patients
- Severe global developmental delayHPOHP:0011344
- 37 of 37 reported patients
Show the remaining 16
- VentriculomegalyHPOHP:0002119
- 2 of 2 reported patients
- Wide mouthHPOHP:0000154
- 37 of 37 reported patients
- LaryngomalaciaHPOHP:0001601
- 26 of 35 reported patients
- Tapered fingerHPOHP:0001182
- 20 of 37 reported patients
- Short palmHPOHP:0004279
- 18 of 35 reported patients
- Small for gestational ageHPOHP:0001518
- 18 of 35 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.
- SNIP1HGNC:30587
- Moderate · PanelApp Australia · Autosomal recessive · 2025
- Limited · Illumina · Autosomal recessive · 2022
- Limited · Labcorp Genetics (formerly Invitae) · Unknown · 2021
- Limited · G2P · Autosomal recessive · 2015
Where it sits
- A kind of
Other names
1 name
Resolves to: psychomotor retardation, epilepsy, and craniofacial dysmorphism
- Also called
- neurodevelopmental disorder with hypotonia, craniofacial abnormalities, and seizures