Global Variome shared LOVD

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Phenotype #0000297027 Individual ID 00404435 Associated disease NDD Diagnosis/Initial neurodevelopmental delay Diagnosis/Definite - Phenotype details birth 41w length 45 cm (-3.2 SD)birth 41w length 45 cm (-3.2 SD), weight 2.45 kg (-2.58 SD), OFC 32 cm (-2.53 SD); height 127 cm (-5.95 SD), weight 26.5 kg (-6.14 SD), OFC 49 cm (-4.6 SD); Language intelligible (she knows 20 words); slightly ataxic, she is not able to step on stairs; frequent smiling, motor stereotypic movement (hand-washing, clapping). Normal muscle tone.; 5 MRIs done at the age of 2, 3, 7, 8 and 13 years: slight hyperintensity in T2-weighted sequences of supratentorial white matter.; Behavioural abnormality, Stereotypy, Severe intellectual disability; Low frontal hairline, bushy and laterally sparsed eyebrows, upslanting long palpebral fissures, triangular nose with prominent glabella and slight bulbous nasal tip, short simplified philtrum, thin upper lip with wide mouth.; normal skin, acne, but may just be consequence of puberty; Partial fusion of 1st and 2nd right rib, long fingers; Fondul oculi, normal; moderate myopia; Fetal pads; Recurrent fever Inheritance Isolated (sporadic) Age/Examination 16y (16 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2022-03-02 10:20:20 +01:00 (CET) Date last edited N/A

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