Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ] Register as submitter | Log in

Phenotype #0000297017 Individual ID 00404425 Associated disease NDD Diagnosis/Initial neurodevelopmental delay Diagnosis/Definite - Phenotype details birth 33+0w length 37 cm (-2.52 SD)*birth 33+0w length 37 cm (-2.52 SD)*, weight 1.24 kg (-2.52 SD)*, OFC 33 cm (+1.83 SD)*; height 92 cm (-3.7 SD), weight 11.5 kg (-3.97 SD), OFC 46.8 cm (-4.07 SD); muscle hypotonia; normal; severe intellectual disability and develomental delay, muscle hypotonia, seizures; upslanting palpebral fissures, periorbital fullness, bifid flat nasal tip, ptosis, hypertelorism, wide mouth; feeding difficulties; normal skin; coronal hypospadias, nondescended testes; Sagittal suture synostosis; no hearing loss; hyperopie, astigmatismus, LA Strabismus concergent intermittens; normal haematopoiesis, normal iImmune functioning; VSD I; unclear increased renal values with otherwise inconspicuous kidney imaging Inheritance Isolated (sporadic) Age/Examination 5y1m (5 years, 1 month) 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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