Phenotype #0000326474
| Individual ID |
00436294 |
| Associated disease |
? |
| Diagnosis/Initial |
- |
| Diagnosis/Definite |
cohesinopathy |
| Phenotype details |
no synophrys; depressed broad nasal bridge, high palate, small chin; developmental delay; small hands; 5th finger clinodactyly, abnormal palmar crease,2-3 syndactyly; seizures,ptosis,tear duct malformation; cryptorchidism, hypoplastic male genitalia, renal malformation; failure to thrive; weight 93rd, length 5th, OFC 2nd; short stature; microcephaly; motor delay; speech delay; behavioral problems; seizures (during infancy); no hypertonia; hypotonia; ptosis; depressed/broad nasal bridge; no low-set ears; no microtia; no dysmorphic ears; high arched palate; no cleft lip/palate; micrognathia; no hearing loss; patent ductus arteriousus; hypoplastic male genitalia; cryptorchidism (left); horseshoe kidney; no scoliosis; no micromelia; no phocomelia; brachydactyly; fifth finger clinodactyly; single transverse palmar crease; 2-3 toe syndactyly; MRI brain ectopic posterior pituitary |
| Inheritance |
Isolated (sporadic) |
| Age/Examination |
4y8m (4 years, 8 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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