Phenotype #0000325749
| Individual ID |
00435562 |
| Associated disease |
NDD |
| Diagnosis/Initial |
neurodevelopmental delay |
| Diagnosis/Definite |
- |
| Phenotype details |
see paper; ..., forceps and vaccum-assisted delivery; birth at term; language/speech delay, 19-24m-first words; fine motor delay, 18m-first steps; no intellectual disability; autism spectrum disorder; ADHD; no psychosis/schizophrenia; no use psychiatric drugs; no sleep disturbances; no seizures/epilepsy; no hypotonia; no dystonia; no spasticity; 10y-MRI brain normal; joint hypermobility knees (left 19 and right 25 degrees); no syndactyly; no vertebral abnormalities; clinodactyly 4th/5th toes; pectus excavatum; facial asymmetry secondary to positional plagiocephaly, closely spaced elanguage/speech delay (3%ile inner canthal measurement), multiple hair whorls with frontal upsweep of hair, large ears (97%ile), thin upper lip, broad chin, high-arched palate; no lip/cleft palate; no hypermetropia/myopia; no strabismus; normal hearing; no recurrent ear infections; 3 sets of pressure equalizer (PE) tubes; no congenital heart disease; no neonatal feeding difficulties; no gastroesophageal reflux; no constipation; no skin hyperlaxity but soft skin; slight extension edge scrotum to lateral base penis, but not surrounding (not a shawl scrotum); no cryptorchidism; retained primary dentition; |
| Inheritance |
Isolated (sporadic) |
| Age/Examination |
14y5m (14 years, 5 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 |
2023-08-03 13:47:25 +02:00 (CEST) |
| Date last edited |
N/A |
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