Phenotype #0000230662

Individual ID 00303599
Associated disease NDD
Diagnosis/Initial neurodevelopmental disorder
Diagnosis/Definite IDDSADF
Phenotype details birth 37w, weight 2820 g; no peri/postnatal issues; height 50-75 centile, weight 91centile, OFC 9-25 centile; walk-17m; delayed fine motor skills, can run with difficulty and slowly climb stairs; hypotonia; speech 17m-first words, difficulty in communicating with others but does form some complete sentences; anxiety, aggression, unable to read or write, special needs school; esotropia; Slightly descending columella, tubular nose, narrow palate, misaligned teeth, upslanting palpebral fissures, malar hypoplasia, 5th finger clinodactyly, short hands; MRI brain 3.5y-occipital atrophy; normal echo heart/kidney; varus foot deformity
Inheritance Isolated (sporadic)
Age/Examination 18y (18 years)
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
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 2020-06-16 23:30:21 +02:00 (CEST)
Date last edited N/A

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