Phenotype #0000001407
| Individual ID |
00002430 |
| Associated disease |
MFDGA;MFDM |
| Diagnosis/Initial |
- |
| Diagnosis/Definite |
MFDGA |
| Phenotype details |
IUGR; adult weight of 0SD; adult height of 0SD; adult head circumference of -2SD; facial asymmetry; mandibular hypoplasia; asymmetric dysplasia of external ears; moderate delayed psycho/motor development; 2/3 toe syndactyly; thenar hypoplasia; oesophageal atrisia type C; normal array-CGH (Agilent 105K); normal sequence of MYCN and MIR17HG genes |
| Inheritance |
Isolated (sporadic) |
| Age/Examination |
- |
| Age/Onset |
- |
| Phenotype/Onset |
- |
| Age/Diagnosis |
- |
| Birth_Details |
36.5w; weight (-1.5) |
| Height-Weight-OFC |
- |
| Protein |
- |
| Owner name |
Dennis E. Bulman |
| Database submission license |
No license selected |
| Created by |
Dennis E. Bulman |
| Date created |
2013-09-05 03:04:42 +02:00 (CEST) |
| Date last edited |
2025-03-08 16:45:03 +01:00 (CET) |
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