Phenotype #0000310199

Individual ID 00418911
Associated disease NDD
Diagnosis/Initial neurodevelopmental delay
Diagnosis/Definite MRD62
Phenotype details pregnancy 26w-bleeding, otherwise normal; birth 38w, weight 2976 (p14)g; weight 78.8kg (P98), height 15y-161.9cm (P58), OFC 6y-51.5cm (p25-50); delayed motor mevelopment, ataxic gait; normal hand skills; speech 2y-first words, then stopped, 6y-no speech, currently nonverbal, communicates with ipad and paper symbols, uses eye poiting; 1-2y-regression; language regression; no motor regression; severe intellectual disability; autism; no anxiety; no attention deficit hyperactivity disorder; over friendly with strangers; stereotypies (hand flappng) ataxia; hypotonia; 15y-epilepsy; MRI normal; no ophthalmological anomalies; normal hearing; normal skin; square shaped face; blue eyes; normal nose; normal philtrum; normal mouth; normal chin; normal ears; scoliosis onset age 3 years, requiring surgery (titanium rod) age 14 years joint laxity; slightly large hands, soft and brittle nails; no Marfanoid habitus; no heart/aorta defects; no gastrointestinal manifestations; no endocrine dysfunction; normal breathing; no bruxism; no sleep problems; no peripheral vasomotor disturbances; no diminished pain response; intense eye communication; no genital malformations; no infection tendency
Inheritance Isolated (sporadic)
Age/Examination 16y (16 years)
Age/Diagnosis -
Age/Onset 1y
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 2022-10-13 19:59:42 +02:00 (CEST)
Date last edited N/A

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