Phenotype #0000356818

Individual ID 00472009
Associated disease NDD
Diagnosis/Initial neurodevelopmental disorder
Diagnosis/Definite -
Phenotype details see paper; ..., brith at term; moderate-severe developmental delay; severe intellectual disability; no speech; hypotonia; refractory infantile spasms (now controlled); EEG hypsarrhythmia; MRI/CT mild diffuse atrophy; never walked; flat face, full cheeks, bulbous nasal tip, thin lower lip, highly arched palate, retrognathia, narrow ear orifices, 4 cafĂ©-au-lait spots (back, thigh, 2 buttocks); no cardiac anomalies; normal renal function; normal hearing; normal vision; younger age constipation; bilateral hip luxation; no menarche yet; very small breasts (p1 stage)
Inheritance Familial, autosomal dominant
Age/Examination 12.6y
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 2026-01-05 12:55:15 +01:00 (CET)
Date last edited N/A

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