Phenotype #0000304457

Individual ID 00412455
Associated disease NDD
Diagnosis/Initial neurodevelopmental delay
Diagnosis/Definite ODLURO;IDDAM
Phenotype details macrocephaly, OFC Z+3.3; no dolichocephaly; large forehead; epicanthal folds; no deep-set eyes; no prominent nasolabial folds; no full cheeks; no small ears; no finger/toe clinodactyly; developmental motor delay; 23m-walk; developmental speech delay (after regression); 15 months; developmental regression; intellectual disability; autism spectrum disorder; EEG normal; no epilepsy; no febrile seizures; muscular hypotonia; no ADHD; stereotypical behavior; no self-injurious behavior; no aggressive behavior; sleep disturbances; corpus callosum hypoplasia; no ventriculomegaly; no reduced brain volume; no cerebral cysts; delayed myelination; constipation; no gastroesophageal reflux; no vomiting; mild left eye strabismus, hypertelorism, 1d-polycythemia
Inheritance Isolated (sporadic)
Age/Examination 04y (4 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 2022-06-29 09:49:23 +02:00 (CEST)

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