Global Variome shared LOVD

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Phenotype #0000295649 Individual ID 00402898 Associated disease NDD Diagnosis/Initial neurodevelopmental delay Diagnosis/Definite - Phenotype details polyhydramnios; bi-temporal narrowing, plagiocephaly, bushy eyebrows with medial flaring, long eyelashes, depressed nasal bridge, cupid bowed lips, micrognathia; severe global developmental delay; self-injurious behavior; weight -2.4 SD, height -2.5 SD; microcephaly (OFC -3.5 SD); axial hypotonia, mild motor-sensory demyelinating polyneuropathy; MRI brain hydrocephalus, thin corpus callosum, partially shifted vermis; optic atrophy, abnormal visual-evoked potential, exotropia; abnormal brain-stem-evoked response auditory; congenital hip dysplasia, severe scoliosis, pes cavus, tapering fingers; oxygen supplementation, gastrostomy feeding, cryptorchidism, CD55-deficiency Inheritance Familial, autosomal recessive Age/Examination 5y (5 years) Age/Diagnosis - Age/Onset 1d 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 2022-02-14 10:40:27 +01:00 (CET) Date last edited N/A

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