Phenotype #0000347573

Individual ID 00459495
Associated disease NDD
Diagnosis/Initial neurodevelopmental delay
Diagnosis/Definite -
Phenotype details see paper; ..., OFC <3rd; no short stature; no intellectual disability (IQ79); developmental delay, 15m-walk, speech delay, 3y-little speech, 5y-short, not always correct sentences; no autistic features; no epilepsy; no movement disorder; no genital anomalies; no cardiac anomalies; large ears, mildly downslanting palpebral fissures, high nasal root, thin upper lip, prominent incisors, high and narrow palate, long fingers and toes; behavioral issues, ADHD, aggressivity
Inheritance Isolated (sporadic)
Age/Examination 11.42y
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 2025-01-06 10:01:48 +01:00 (CET)
Date last edited N/A

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