Phenotype #0000242358

Individual ID 00320345
Associated disease ID
Diagnosis/Initial intellectual disability
Diagnosis/Definite -
Inheritance Isolated (sporadic)
Phenotype details pregnancy uncomplicated; no neonatal features; birth weight -1SD; length 2SD, OFC 0SD, BMI 16; severe developmental delay/intellectual disability; 30m-walk; no speech; no epilepsy; no developmental regression; hypotonia; autistic behaviour; MRI brain normal; widely spaced eyes; anteverted nares; flat nasal bridge; coarseness; hypertrichosis; no thick lips; pink and full cheeks; almond-shaped eyes; thick earlobes; no flat feet; hyperlordosis; no hip dislocation; no genu valgum; no club feet; normal skin pigmentation; no umbilical hernia; oculomotor apraxia; no hearing loss; interstitial lung disease, chronic diarrhoea; no recurrent infections
Age/Examination 4y5m (4 years, 5 months)
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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