Phenotype #0000315268

Individual ID 00424060
Associated disease NDD
Diagnosis/Initial neurodevelopmental delay
Diagnosis/Definite -
Phenotype details no prenatal complications; birth 38w, C-section; no postnatal complications; developmental delay (HP:0012758)/mild intelletual disability (HP:0001249); no neurodevelopmental regression (-HP:0002376); seizures (HP:0001250); single words, short sentences; hypotonia (HP:0001319), lower leg spasticity; gait disturbance (HP:0001288); behavioral abnormalities (HP:0000708); no autism/autistic-like behavior (-HP:0000717); abnormal myelination (HP:0012447); no structural brain anomalies; astigmatism (HP:0000483); no nystagmus (-HP:0000639); no strabismus (-HP:0000486); no myopia (-HP:0000545)/no hyperopia (-HP:0000540); no iris coloboma (-HP:0000612); broad forehead (HP:0000337), other dysmorphic features; no gastrointestinal abnormality (HP:0011024)-; no abnormality of the immune system (HP:0002715)-; premature puberty
Inheritance Isolated (sporadic)
Age/Examination 6y (6 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 2022-11-16 15:06:22 +01:00 (CET)
Date last edited N/A

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