Phenotype #0000304469

Individual ID 00412467
Associated disease NDD
Diagnosis/Initial neurodevelopmental delay
Diagnosis/Definite ODLURO
Phenotype details no macrocephaly; no dolichocephaly; no large forehead; no epicanthal folds; deep-set eyes; no prominent nasolabial folds; full cheeks; no small ears; no finger/toe clinodactyly; developmental motor delay; 23m-walk; developmental speech delay; no speech; no developmental regression; autism spectrum disorder; EEG normal; no epilepsy; no febrile seizures; muscular hypotonia; ADHD; stereotypical behavior; self-injurious behavior; no aggressive behavior; sleep disturbances; no corpus callosum hypoplasia; no ventriculomegaly; no reduced brain volume; no cerebral cysts; no delayed myelination; no constipation; no gastroesophageal reflux; no vomiting
Inheritance Isolated (sporadic)
Age/Examination 7y (7 years)
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Owner name Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2022-06-29 09:24:48 +02:00 (CEST)
Date last edited N/A

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