Phenotype #0000242360

Individual ID 00320347
Associated disease ID
Diagnosis/Initial intellectual disability
Diagnosis/Definite -
Inheritance Isolated (sporadic)
Phenotype details neonatal jaundice; birth 33w; length -2.63SD, OFC +1.9SD, BMI 20 (>95th); severe developmental delay/intellectual disability, 4y-sit; not walking; no speech; epilepsy; no developmental regression; hypotonia, spasticity; autistic behaviour, sleep disturbance; MRI brain arachnoid cyst, Dandy-Walker malformation; 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; club feet; skin Blaschko’s lines; cortical visual impairment, strabismus, amblyopia; hearing loss; chronic lung disease (4 m.), sleep apnoea syndrome; recurrent infections, neutropenia
Age/Examination 7y (7 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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