Global Variome shared LOVD

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Phenotype #0000084336 Individual ID 00106523 Associated disease ID Diagnosis/Initial - Diagnosis/Definite - Inheritance Isolated (sporadic) Phenotype details Developmental delay/Intellectual disability, Speech/language delay Motor delay, Hypotonia, Microcephaly, broad nasal tip, prominent gum line, Lack of subcutaneous fat, Peg like, disorganized teeth, Lateral flaring of eyebrows, prominent supraorbital ridges, short palpebral fissures, severe myopia and convergent squint, Wrinkly hands, flexed fingers, 5th finger clinodactyly, bulbous halluces, overlapping toes; intellectual disability (HP:0001249); global developmental delay (HP:0001263); speech delay (HP:0000750) Age/Examination 11y00m (11 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Bernt Popp Database submission license No license selected Created by Bernt Popp Date created 2017-07-02 23:22:41 +02:00 (CEST) Date last edited 2020-05-12 12:33:06 +02:00 (CEST)

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