Phenotype #0000307194
| Individual ID |
00415400 |
| Associated disease |
NDD |
| Diagnosis/Initial |
- |
| Diagnosis/Definite |
- |
| Phenotype details |
40w-birth C-section (anamnestic), weight 2800g (-1.87); no pre-/perinatal issues; height 122cm (-0.86), weight 18.8Kg (-2.22), OFC 49cm (-2.95), BMI 12.6 (-2.72); delayed bone age; mild intellectual disability; 1m-social smile; 6m-roll-over; 8m-sit; 15m-walk; <3y-toilet trained; 18m-first words, pronunciation difficulties; special education classes, speech therapy; no autistic features; ADHD; no sleep disturbances; no seizures; mild hypotonia in early infancy; no hearing loss; no ophthalmological abnormalities; no pulmonary abnormalities; no cardiovascular abnormalities; no gastrointestinal abnormalities; no genitourinary abnormalities; no endocrinological abnormalities; normal metabolic workup; normal immunoglobulin levels; 11 ossified ribs and 6 non rib-bearing lumbar vertebrae, cutaneous incomplete syndactyly toes 2-3 bilaterally (as in father); thin body habitus, triangular face, broad forehead, broad nasal bridge, mild posterior rotation of ears, small ear lobes |
| Inheritance |
Familial, autosomal dominant |
| Age/Examination |
7y11m (7 years, 11 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.
|
