neurodevelopmental disorder with hypotonia, feeding difficulties, facial dysmorphism, and brain abnormalities
MONDO:0971043Mondo
Findings
No curated finding names neurodevelopmental disorder with hypotonia, feeding difficulties, facial dysmorphism, and brain abnormalities 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
65 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.
- Decreased body weightHPOHP:0004325
- 2 of 2 reported patients
- Delayed speech and language developmentHPOHP:0000750
- 4 of 4 reported patients
- Global developmental delayHPOHP:0001263
- 10 of 10 reported patients
- HypotoniaHPOHP:0001252
- 9 of 9 reported patients
- Intellectual disabilityHPOHP:0001249
- 1 of 1 reported patient
- Motor delayHPOHP:0001270
- 8 of 8 reported patients
- Feeding difficultiesHPOHP:0011968
- 7 of 8 reported patients
- Sleep-wake cycle disturbanceHPOHP:0006979
- 4 of 5 reported patients
- HypertelorismHPOHP:0000316
- 6 of 8 reported patients
- Severe intellectual disabilityHPOHP:0010864
- 3 of 4 reported patients
- HyperactivityHPOHP:0000752
- 5 of 7 reported patients
- Autistic behaviorHPOHP:0000729
- 4 of 6 reported patients
Show the remaining 53
- Short statureHPOHP:0004322
- 4 of 6 reported patients
- Depressed nasal bridgeHPOHP:0005280
- 4 of 7 reported patients
- Low-set earsHPOHP:0000369
- 5 of 9 reported patients
- Absent speechHPOHP:0001344
- 4 of 8 reported patients
- Protruding earHPOHP:0000411
- 4 of 9 reported patients
- Fine hairHPOHP:0002213
- 3 of 7 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.
- WBP4HGNC:12739
- Moderate · G2P · Autosomal recessive · 2025