Phenotype #0000310196

Individual ID 00418908
Associated disease NDD
Diagnosis/Initial neurodevelopmental delay
Diagnosis/Definite MRD62
Phenotype details pregnancy mother on bipolar medications, nuchal cord, cyanosis at delivery but revived OK; birth 34w, length 46cm, weight 2386g; weight 61kg (P76), height 169.5cm (P86), OFC 55.1cm (P70); delayed motor mevelopment, normal gait; delayed hand skills use of utensils and writing; normal language development; no regression; no language regression; no motor regression; mild intellectual disability; autism; anxiety; attention deficit hyperactivity disorder; hallucinations, suicidal ideations, thoughts of harming others (was sexually abused during childhood); tremors; normal muscle tone; no epilepsy; MRI normal; myopia; normal hearing; skin increased elasticity, striae on buttocks, hips, upper outer thighs and breasts; broad forehead midfacial hypoplasia; downslanting palpebral fissures; bulbous tip; normal philtrum; normal mouth; prognathism; ears protuberant superior helices slightly small; thoracic dextroscoliosis joint laxity; flat feet ankle pronation; Marfanoid habitus; borderline mitral valve prolapse, no heart/aorta defectsrmal aortic root size (Z-score 0.95); vomiting; no endocrine dysfunction; normal breathing; no sleep problems; no peripheral vasomotor disturbances; no diminished pain response; no intense eye communication; premenstrual symptoms, behavioral abnormalities; no genital malformations; no infection tendency
Inheritance Unknown
Age/Examination 15y (15 years)
Age/Diagnosis -
Age/Onset 5y
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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