Phenotype #0000242349

Individual ID 00320336
Associated disease ID
Diagnosis/Initial intellectual disability
Diagnosis/Definite -
Inheritance Isolated (sporadic)
Phenotype details pregnancy uncomplicated; neonatal jaundice, transient neonatal hepatomegaly; birth 38w, weight +1SD, length –1SD, OFC -1SD; length -4SD, OFC 0SD, BMI 19; severe developmental delay/intellectual disability; not walking; no speech; 6y-epilepsy; no developmental regression; hypotonia, lower limb spasticity; MRI brain short corpus callosum; widely spaced eyes; anteverted nares, short nose; flat nasal bridge; coarseness; hypertrichosis; thick lips; pink and full cheeks; almond-shaped eyes; thick earlobes; no flat feet; no hyperlordosis; no hip dislocation; no genu valgum; no club feet; skeletal X-rays metaphyseal enlargement; skin Blaschko’s lines; no umbilical hernia; abnomality of the vep; hearing loss; clubbing of fingers
Age/Examination 10y (10 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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