Global Variome shared LOVD

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Phenotype #0000301944 Individual ID 00409829 Associated disease NEDVIBA Diagnosis/Initial - Diagnosis/Definite neurodevelopmental disorder with visual defects and brain anomalies (NEDVIBA) Phenotype details Prenatal development: cystic brain lesions found at 7m gestation but later resolved; developmental delay, intellectual disability ; no microcephaly; short stature; age at sitting: 2y; age at walking: cannot walk unassisted; age at talking & current speech:First words at 14 months & significantly limited, expressive language now, only a few words; dysmorphic features: right earlobe crease, frontal bossing, epicanthal folds, anteverted nose, bulbous nasal tip, preauricular pit, thin upper lip; neurologic & behavioral problems: truncal hypotonia limb hypertonia (lower > upper) brisk deep tendon reflexs some contractures in hamstrings, no self-care skills; electroencephalogram: normal; brain magnetic resonance: cerebral & cerebellar atrophy, thin corpus callosum, periventricular leukomalacia, possible gray matter heterotropia; visual abnormalities: cortical visual impairment, strabismus, astigmatism; other abnormalities: scoliosis, bilateral hip dislocation (Wears AFOs), torticollis, clonus, and spasticity as innt, poor weight gain Inheritance Isolated (sporadic) Age/Examination 9y (9 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Owner name LOVD Database submission license Creative Commons Attribution 4.0 International Created by Anna Tracewska Date created 2022-05-11 15:22:31 +02:00 (CEST) Date last edited N/A

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