Phenotype #0000324907
| Individual ID |
00434658 |
| Associated disease |
NDD |
| Diagnosis/Initial |
- |
| Diagnosis/Definite |
- |
| Phenotype details |
see paper; ..., motor delay, mild truncal hypotonia, mild hemihypertrophy left side ace, bilateral clinodactyly, hyperextensibility; attention deficit hyperactivity disorder, significant difficulties in school; MRI brain retrocerebellar fluid collection consistent with enlarged magna cisterna; no seizures; no intellectual disability; developmental delay, motor delay; learning disability; attention deficit hyperactivity disorder; no seizures; no spasticity; no hypertonia; hypotonia; difficulty moving arms and legs simultaneously; no open mouth; no drooling; no meningomyelocele; no polymicrogyria ; no pachygyria; enlarged cisterna magna; facial asymmetry, left face mild hemihypertrophy; no epicanthal fold ; no dysmorphic ears; no asthma; joint hypermobility; no scoliosis; no vertebral segmentation defect; no narrow chest; no talipes equinovarus; clinodactyly; no umbilical hernia; no imperforated anus ; no rectovaginal fistula; no single kidney; MRI brain retrocerebellar fluid collection consistent with an enlarged cisterna magna |
| Inheritance |
Isolated (sporadic) |
| Age/Examination |
11y07m (11 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 |
2023-04-07 11:11:13 +02:00 (CEST) |
| Date last edited |
2023-04-07 13:26:42 +02:00 (CEST) |
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