Phenotype #0000242355

Individual ID 00320342
Associated disease ID
Diagnosis/Initial intellectual disability
Diagnosis/Definite -
Inheritance Isolated (sporadic)
Phenotype details pregnancy uncomplicated; no neonatal features; birth 36+6w, weight –0.5SD, length -1SD, OFC –1.8SD; length -2.5SD, BMI 17.5; severe developmental delay/intellectual disability; not walking; no speech; 5y-seizure; no developmental regression; hypotonia, mild spasticity (left side); no behavioural issues; MRI brain normal; no widely spaced eyes; flat nasal bridge; anteverted nares, short nose; coarseness; hypertrichosis; thick lips; no pink and full cheeks; no almond-shaped eyes; thick earlobes; no flat feet; no hyperlordosis; no hip dislocation; no genu valgum; club feet left; skin Blaschko’s lines; no umbilical hernia; normal eyes; no hearing loss; body asymmetry; no recurrent infections
Age/Examination 9y (9 years)
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
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 2020-11-27 13:30:34 +01:00 (CET)
Date last edited N/A

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