Phenotype #0000326473
| Individual ID |
00436293 |
| Associated disease |
? |
| Diagnosis/Initial |
- |
| Diagnosis/Definite |
cohesinopathy |
| Phenotype details |
synophrys; long curly eyelashes; developmental delay, intellectual disability; abnormal elbow extension, 2-3 toe syndactyly; cutis marmorata; submucosal cleft; no failure to thrive; weight 97th, length 67th, OFC >98th; no short stature; no microcephaly; motor delay; severe speech delay; long curly eyelashes; low-set ears; no microtia; dysmorphic ears; no long/smooth philtrum; cleft lip/palate; no hypoplastic nails; significant cutis marmorata; strabismus; no hearing loss; no congenital heart defect; no congenital diaphragmatic hernia; no pulmonary hypoplasia; no structural anomalies renal tract; no scoliosis; no rib fusion; no vertebral anomalies; limited elbow extension; no radioulnar abnormalities; no micromelia; no phocomelia; no brachydactyly; no fifth finger clinodactyly; 2-3 toe syndactyly; MRI brain increased T2 signal in frontal and parietal white matter; mild hallux valgus; no acute or healing injury; ECG normal |
| Inheritance |
Isolated (sporadic) |
| Age/Examination |
11y5m (11 years, 5 months) |
| Age/Diagnosis |
- |
| Age/Onset |
- |
| Phenotype/Onset |
- |
| Protein |
- |
| Tumor/MSI |
- |
| Diagnosis/Criteria |
- |
| Owner name |
Johan den Dunnen |
| Database submission license |
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International |
| Created by |
Johan den Dunnen |
| Date created |
2023-08-31 23:02:18 +02:00 (CEST) |
| Date last edited |
N/A |
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