Phenotype #0000143714
| Individual ID |
00181525 |
| Associated disease |
DD |
| Phenotype details |
normal growth, normal OFC; hypotonia, developmental delay; severe intellectual disability; focal seizures; EEG-generalized and multifocal abnormalities; autism spectrum disorder; RTT-like features stereotyped hand movements (wringing), absent purposeful hand movements; no movement disorder; no central visual defects; speech only 5–10 spoken words; MRI brain unremarkable; clumsiness, abnormal behavior |
| Diagnosis/Initial |
NEDHAHM |
| Inheritance |
Familial, autosomal dominant |
| Diagnosis/Definite |
- |
| Age/Examination |
14y (14 years) |
| Age/Diagnosis |
- |
| Age/Onset |
- |
| Phenotype/Onset |
- |
| Protein |
- |
| Owner name |
Stephanie Efthymiou |
| Database submission license |
Creative Commons Attribution 4.0 International |
| Created by |
Stephanie Efthymiou |
| Date created |
2018-10-10 15:37:11 +02:00 (CEST) |
| Date last edited |
2020-06-17 10:04:14 +02:00 (CEST) |
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