Phenotype #0000307186
| Individual ID |
00415392 |
| Associated disease |
NDD |
| Diagnosis/Initial |
- |
| Diagnosis/Definite |
- |
| Phenotype details |
41w-birth spontaneous vaginal, length 45cm (-3.52), weight 2480g (-2.79); intrauterine growth retardation; at age 1y failure to thrive; height 164.5cm (-1.56), weight 45.4Kg (-2.78), OFC 55cm (-1.34), BMI 16.8 (-2.3); delayed bone age (9,25y at 10y6m); learning difficulties (IQ: 78-81); 19m-walk; >4y-toilet trained; autonomous in all daily activities; delayed speech, later no speech impairment; trains as a horticolturis, before received support at school; no autistic features; 11y-psychological support because of suicidal thoughts related to poor scholastic performance, otherwise happy, social; no sleep disturbances; no seizures; normal muscle tone, 26m-hypotonia; no hearing loss; minor refraction defect, does not wear glasses; no pulmonary abnormalities; no cardiovascular abnormalities; neonatal feeding difficulties; no genitourinary abnormalities; no endocrinological abnormalities; no metabolic abnormalities; no immunological abnormalities; pectus excavatum, scapulae alatae, mild scoliosis, flat feet, prominent knees, broad forefeet, bilateral clinodactyly 5th toe; triangular face, broad forehead, protruding ears, high arched palate; dental crowding, succesfully treated with braces, high arched palate |
| Inheritance |
Isolated (sporadic) |
| Age/Examination |
18y2m (18 years, 2 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 |
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