Global Variome shared LOVD

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Phenotype #0000051415 Individual ID 00065300 Associated disease ID Diagnosis/Initial - Diagnosis/Definite - Inheritance Familial, autosomal recessive Phenotype details intellectual disability (HP:0001249), microcephaly (HP:0000252), hearing loss (HP:0000365), cortical visual impairment (HP:0100704), oral frenuli/ankyloglossia (HP:0010296), no cleft palate (-HP:0000175), congenital heart disease (HP:0030680), no kyphoscoliosis/scoliosis (-HP:0002751), brachydactyly (HP:0001156) & clinodactyly (HP:0030084), 4/5 toe syndactyl (HP:0004692), abnormal balance (HP:0002141), no abnormal sleep pattern (-HP:?), no laughter outbursts (-HP:0000749), movement disorder (HP:0100022), no seizures (-HP:0001250), no rotatory nystagmus (-HP:0001583); severe intellectual disability (HP:0010864); global developmental delay (HP:0001263) Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Jamie Zeegers Database submission license No license selected Created by Jamie Zeegers Date created 2016-05-27 12:47:30 +02:00 (CEST) Date last edited 2020-05-12 12:33:06 +02:00 (CEST)

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