deeah syndrome
MONDO:0033561Mondo
Findings
No curated finding names deeah syndrome 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
- Death in infancy · Death in childhood · Death in adolescence
HPO, annotations 2026-09-02
Features
62 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.
- HypotoniaHPOHP:0001252
- 14 of 14 reported patients
- Motor delayHPOHP:0001270
- 14 of 14 reported patients
- Severe global developmental delayHPOHP:0011344
- 14 of 14 reported patients
- Short statureHPOHP:0004322
- 14 of 14 reported patients
- Decreased hemoglobin concentrationHPOHP:0020062
- 13 of 14 reported patients
- Exocrine pancreatic insufficiencyHPOHP:0001738
- 13 of 14 reported patients
- Narrow mouthHPOHP:0000160
- 10 of 12 reported patients
- Delayed speech and language developmentHPOHP:0000750
- 9 of 11 reported patients
- CryptorchidismHPOHP:0000028
- 4 of 5 reported patients · Male
- Decreased response to growth hormone stimulation testHPOHP:0000824
- 8 of 10 reported patients
- MicropenisHPOHP:0000054
- 4 of 5 reported patients · Male
- Decreased body weightHPOHP:0004325
- 10 of 13 reported patients
Show the remaining 50
- Impaired pain sensationHPOHP:0007328
- 9 of 12 reported patients
- Chronic diarrheaHPOHP:0002028
- 10 of 14 reported patients
- EEG abnormalityHPOHP:0002353
- 9 of 13 reported patients
- Neonatal hypoglycemiaHPOHP:0001998
- 9 of 13 reported patients · Neonatal onset
- PanhypopituitarismHPOHP:0000871
- 8 of 12 reported patients
- SeizureHPOHP:0001250
- 9 of 14 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.
- MADDHGNC:6766
- Strong · PanelApp Australia · Autosomal recessive · 2025
Where it sits
- A kind of