Phenotype #0000310200

Individual ID 00418912
Associated disease NDD
Diagnosis/Initial neurodevelopmental delay
Diagnosis/Definite MRD62
Phenotype details normal pregnancy; birth at term, length 53,3cm, weight 3628g; weight 26.4kg (P25-50), height 123cm (P50-75), OFC 54cm (P90-95); early motor milestones on target, delayed fine motor skills, normal gait; delayed hand skills; early speech milestones on target, further expressive language delayed, currently speaks in short phrases occasionally, otherwise nonverbal; 4y-regression; language regression; no motor regression; mild intellectual disability (6y6m IQ 69; no autism; no anxiety; no attention deficit hyperactivity disorder; hyperactive, dyspraxia; no abnormal movements; hyptonia; 7y-epilepsy, focal, refractory, ESES; EEG abnormal - multifocal spikes, ESES; MRI normal; 4y-elevated CPK; strabismus (left exotropia); normal hearing; normal skin; normal shape face; normal eyes; normal nose; normal philtrum; normal mouth; normal chin; normal ears; no skeletal manifestations; normal hands/feet; no Marfanoid habitus; no heart/aorta defects; no gastrointestinal manifestations; concern for precoucious puberty; normal breathing; sleep problems, abnormal breathing during sleep; no peripheral vasomotor disturbances; diminished pain response; no intense eye communication; no genital malformations; no infection tendency (normal immunology workup)
Inheritance Isolated (sporadic)
Age/Examination 7y (7 years)
Age/Diagnosis -
Age/Onset 3y
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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