neurodevelopmental disorder with short stature, prominent forehead, and feeding difficulties
MONDO:0859295Mondo
Findings
No curated finding names neurodevelopmental disorder with short stature, prominent forehead, and feeding difficulties 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
- Death in infancy · Congenital onset · Antenatal onset
HPO, annotations 2026-09-02
Features
47 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
- 4 of 4 reported patients
- Feeding difficultiesHPOHP:0011968
- 4 of 4 reported patients
- Global developmental delayHPOHP:0001263
- 4 of 4 reported patients
- Profound intellectual disabilityHPOHP:0002187
- 4 of 4 reported patients
- Short statureHPOHP:0004322
- 4 of 4 reported patients
- Tapered fingerHPOHP:0001182
- 4 of 4 reported patients
- EpicanthusHPOHP:0000286
- 4 of 5 reported patients
- HypotoniaHPOHP:0001252
- 4 of 5 reported patients
- Sparse eyebrowHPOHP:0045075
- 4 of 5 reported patients
- Broad foreheadHPOHP:0000337
- 3 of 5 reported patients
- Downturned corners of mouthHPOHP:0002714
- 3 of 5 reported patients
- Narrow foreheadHPOHP:0000341
- 3 of 5 reported patients
Show the remaining 35
- Wide nasal bridgeHPOHP:0000431
- 3 of 5 reported patients
- Urinary incontinenceHPOHP:0000020
- 2 of 4 reported patients
- Aortic aneurysmHPOHP:0004942
- 2 of 5 reported patients
- Bilateral tonic-clonic seizureHPOHP:0002069
- 2 of 5 reported patients
- Carious teethHPOHP:0000670
- 2 of 5 reported patients
- Cerebral palsyHPOHP:0100021
- 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.
- DPH5HGNC:24270
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Moderate · G2P · Autosomal recessive · 2022
- Limited · Ambry Genetics · Autosomal recessive · 2022
- Limited · ClinGen · Autosomal recessive · 2024
Where it sits
Other names
1 name
Resolves to: neurodevelopmental disorder with short stature, prominent forehead, and feeding difficulties
- Also called
- DPH5-related diphthamide-deficiency syndrome