Phenotype #0000307193
| Individual ID |
00415399 |
| Associated disease |
NDD |
| Diagnosis/Initial |
- |
| Diagnosis/Definite |
- |
| Phenotype details |
40w-birth spontaneous vaginal, length 48cm (-1.68), weight 2940g (-1.26); no pre-/perinatal issues; height 139cm (-1.06), weight 34.6Kg (-0.49), OFC 48,9cm (-3.72), BMI 17.9 (0.21); mild intellectual disability; 2m-social smile; 6m-roll-over; 8m-sit; 18m-walk; <5y-toilet trained; 18m-first words; special education classes, occupational therapy, speech therapy; no autistic features; ADHD, aggressive behaviour; no sleep disturbances; no seizures; 2y6m-MRI brain/spinal normal; mild hypotonia in early infancy; no hearing loss; no ophthalmological abnormalities; no pulmonary abnormalities; no cardiovascular abnormalities, normal US; no gastrointestinal abnormalities; no genitourinary abnormalities, normal renal US; no endocrinological abnormalities; normal metabolic workup; cutaneous incomplete syndactyly toes 2-3 bilaterally (as in father); small epicanthal folds bilaterally, posteriorly rotated simplified ears with hypoplasia of lower 2/3 of helices, short nose, thin upper lip, inverted nipples; Multiple teeth capped due to severe decay |
| Inheritance |
Familial, autosomal dominant |
| Age/Examination |
11y2m (11 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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