Phenotype #0000210515
| Individual ID |
00275916 |
| Associated disease |
NDD |
| Diagnosis/Initial |
neurodevelopmental delay |
| Diagnosis/Definite |
SNIBCPS |
| Phenotype details |
global developmental delay; walk-4y; fine motor delay; no first words yet; speech single word vocalizations, signs and a communication device; received speech/language therapy; predominantly vocalizations and some word approximations. Uses communication device; Moderate intellectual disability; repetitive behaviors, hand flapping, head banging; normal weight; normal height; macrocephaly; MRI-brain mildly widened CSF spaces, mildly prominent perivascular spaces in periatrial white matter; wide CSF spaces; hypotonia; no epilepsy, no seizures; poor balance,; high forehead and minimal frontal bossing; no widely spaced eyes; upper central diastema; normal palate; no neonatal issues; has glasses; normal hearing; normal heart; both testes descended, but left testes high in scrotal sac; hiatal hernia; no skeletal anomalies, no joint anomalies; minor pigment variation and eczema. history of reactive airway disease/asthma. Reflux and esophagitis. |
| Inheritance |
Isolated (sporadic) |
| Age/Examination |
4y7m (4 years, 7 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 |
2020-01-20 21:55:37 +01:00 (CET) |
| Date last edited |
N/A |
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