Phenotype #0000242348

Individual ID 00320335
Associated disease ID
Diagnosis/Initial intellectual disability
Diagnosis/Definite -
Inheritance Isolated (sporadic)
Phenotype details pregnancy uncomplicated; neonatal plagiocephaly; birth 41w, weight +2SD, length >+3SD, OFC +2SD; length +1.4SD, OFC +0.7SD, BMI 19.9 (95th); severe developmental delay/intellectual disability, no interaction, low head control; not walking; no speech; no epilepsy; no developmental regression; severe truncal muscular hypotonia, distal hypertonia; autistic behaviour (stereotypic movements); MRI brain normal; high forehead; widely spaced eyes; anteverted nares; flat nasal bridge; coarseness; no hypertrichosis; no thick lips; pink and full cheeks; almond-shaped eyes; no flat feet; no hyperlordosis; no hip dislocation; no genu valgum; no club feet; normal skin pigmentation; no umbilical hernia; hyperopia; unconclusive hearing test; no recurrent infections
Age/Examination 18m
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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