Phenotype #0000242345

Individual ID 00320332
Associated disease ID
Diagnosis/Initial intellectual disability
Diagnosis/Definite -
Inheritance Isolated (sporadic)
Phenotype details pregnancy high serum markers, normal foetal karyotype; no neonatal features; birth 36w, weight –1SD, length +0.5SD; length -4.5SD, BMI 25 (80th); severe developmental delay/intellectual disability; not walking; no speech; 7m-epilepsy; 7m-psychomotor regression; hypotonia; no behavioural issues; MRI brain normal; widely spaced eyes; bifid nose; flat nasal bridge; coarseness; hypertrichosis; thick lips; pink and full cheeks; almond-shaped eyes; thick earlobes; flat feet; hyperlordosis; hip dislocation; no genu valgum; no club feet; skin Blaschko’s lines; no umbilical hernia; normal eyes; no hearing loss; aortic insufficiency, body asymmetry; no recurrent infections
Age/Examination 20y (20 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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