Phenotype #0000242352

Individual ID 00320339
Associated disease ID
Diagnosis/Initial intellectual disability
Diagnosis/Definite -
Inheritance Isolated (sporadic)
Phenotype details pregnancy uncomplicated; no neonatal features; birth 39w, weight 0SD, lenght 0SD; length -3SD, OFC -0.5SD, BMI 22.4 (85th); severe developmental delay/intellectual disability; 6y-walk; no speech; 4y-epilepsy; infancy loss of words; hypotonia; happy behaviour, sleep disturbance; MRI brain normal; widely spaced eyes; flat nasal bridge; anteverted nares, short nose; coarseness; hypertrichosis; thick lips; pink and full cheeks; almond-shaped eyes; thick earlobes; flat feet; hyperlordosis; no hip dislocation; no genu valgum; no club feet; normal skeletal X-rays; skin Blaschko’s lines; no umbilical hernia; hyperopia; no hearing loss; patent ductus arteriosus, gastro-oesophageal reflux; no recurrent infections
Age/Examination 14y (14 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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