Phenotype #0000325687
| Individual ID |
00435500 |
| Associated disease |
NDD |
| Diagnosis/Initial |
neurodevelopmental delay |
| Diagnosis/Definite |
NEDCFSA |
| Phenotype details |
see paper; ..., infection near end of pregnancy; birth 32w; language/speech delay, 6m-first words, 24m-phrases/sentences; no motor delay, 15-16m-first steps; learning difficulties; autism spectrum disorder; anxiety, aggression; no psychosis/schizophrenia; no use psychiatric drugs; no sleep disturbances; regression, 8m-loss of words; no seizures/epilepsy; no hypotonia; no dystonia; no spasticity; MRI brain normal; joint hypermobility knees; no syndactyly; no vertebral abnormalities; abnormalities hand/foot/finger (PIP joints prominent); no pectus excavatum; slight chest asymmetry; macrocephaly thin upper lip; no lip/cleft palate; myopia; no strabismus; normal hearing; no recurrent ear infections; no congenital heart disease; gastroesophageal reflux; constipation; no skin hyperlaxity; no genitourinary abnormalities; no cryptorchidism; asthma in childhood, inguinal hernias; <3y-hospitalized 4-5X per year; 6m-bilateral inguinal hernia repair |
| Inheritance |
Familial |
| Age/Examination |
19y (19 years) |
| 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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