Phenotype #0000304456
| Individual ID |
00412454 |
| Associated disease |
NDD |
| Diagnosis/Initial |
neurodevelopmental delay |
| Diagnosis/Definite |
ODLURO;DA7 |
| Phenotype details |
macrocephaly, OFC Z+2.7; no dolichocephaly; large forehead; epicanthal folds; deep-set eyes; no prominent nasolabial folds; full cheeks; no small ears; finger/toe clinodactyly; no developmental motor delay; developmental speech delay; no developmental regression; no intellectual disability; no autism spectrum disorder; EEG normal; no epilepsy; no febrile seizures; no muscular hypotonia; no ADHD; no stereotypical behavior; no self-injurious behavior; no aggressive behavior; sleep disturbances; no corpus callosum hypoplasia; no ventriculomegaly; no reduced brain volume; cerebral cysts; no delayed myelination; constipation; no gastroesophageal reflux; no vomiting; aphasia, dysphasia; MYH8 variant segregating with trismus-pseudocampto-dactyly in the family, central apnea, brachycephaly |
| Inheritance |
Isolated (sporadic) |
| Age/Examination |
09y03m (9 years, 3 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 |
2022-06-29 09:24:48 +02:00 (CEST) |
| Date last edited |
2022-06-29 09:42:14 +02:00 (CEST) |
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