Phenotype #0000307191
| Individual ID |
00415397 |
| Associated disease |
NDD |
| Diagnosis/Initial |
- |
| Diagnosis/Definite |
- |
| Phenotype details |
41w 2/7-birth spontaneous vaginal, length 49cm (-1.83), weight 3410g (-0.84), OFC 38.2cm (1.5); mild neonatal hypotonia; height 133.5cm (-1.05), weight 26.3Kg (-1.33), OFC 53cm (-0.61), BMI 14.8 (-1.29); delayed bone age (32m at 51m); mild intellectual disability; 3m-social smile; 10m-sit; 24m-stand; 37m-walk; 3y6m-toilet trained; 7y-autonomous for dressing and feeding; 36m-first words, Pronunciation difficulties; special school, learning level 6y at 10y; no autistic features; happy, not aggressive; no sleep disturbances; no seizures; 10y-persistant axial and peripheral hypotonia; fine motor coordination difficulties; no hearing loss; no ophthalmological abnormalities; no pulmonary abnormalities; no cardiovascular abnormalities; no gastrointestinal abnormalities; 1y-bilateral cryptorchidism, 1y-1 testis surgically removed (atrophic); no endocrinological abnormalities; no metabolic abnormalities; bilateral 5th finger clinodactyly, pes planus; triangular face, large and high forehead, small pointed chin, short and upslanted palpebral fissures, mild hypotelorism arched eyebrows, small joints hyperlaxity, overlapping 1st and 2nd toes; Nasal voice, joint hyperlaxity |
| Inheritance |
Familial, autosomal dominant |
| Age/Examination |
10y6m (10 years, 6 months) |
| Age/Diagnosis |
- |
| Age/Onset |
- |
| Phenotype/Onset |
- |
| Owner name |
Johan den Dunnen |
| Database submission license |
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International |
| Created by |
Johan den Dunnen |
| Date created |
2022-08-13 16:30:49 +02:00 (CEST) |
| Date last edited |
N/A |
|
Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.
|
