intellectual disability-facial dysmorphism-hand anomalies syndrome
MONDO:0018253Mondo
Findings
No curated finding names intellectual disability-facial dysmorphism-hand anomalies syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Features
34 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 chinHPOHP:0011822
- Frequent (30% to 79% of cases)
- Broad nasal tipHPOHP:0000455
- Frequent (30% to 79% of cases)
- Delayed speech and language developmentHPOHP:0000750
- Frequent (30% to 79% of cases)
- Moderate intellectual disabilityHPOHP:0002342
- Frequent (30% to 79% of cases)
- Short palpebral fissureHPOHP:0012745
- Frequent (30% to 79% of cases)
- Specific learning disabilityHPOHP:0001328
- Frequent (30% to 79% of cases)
- Thin upper lip vermilionHPOHP:0000219
- Frequent (30% to 79% of cases)
- 3-4 finger cutaneous syndactylyHPOHP:0011939
- Occasional (5% to 29% of cases)
- Abnormal scalp morphologyHPOHP:0001965
- Occasional (5% to 29% of cases)
- Bifid distal phalanx of the thumbHPOHP:0009611
- Occasional (5% to 29% of cases)
- BrachydactylyHPOHP:0001156
- Occasional (5% to 29% of cases)
- Broad thumbHPOHP:0011304
- Occasional (5% to 29% of cases)
Show the remaining 22
- Cervical C2/C3 vertebral fusionHPOHP:0004602
- Occasional (5% to 29% of cases)
- Curved distal phalanx of the thumbHPOHP:0009644
- Occasional (5% to 29% of cases)
- Facial grimacingHPOHP:0000273
- Occasional (5% to 29% of cases)
- Gait disturbanceHPOHP:0001288
- Occasional (5% to 29% of cases)
- Hypoplastic thumbnailHPOHP:0012553
- Occasional (5% to 29% of cases)
- Hypoplastic toenailsHPOHP:0001800
- Occasional (5% to 29% of cases)