Global Variome shared LOVD

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

Phenotype #0000232895 Individual ID 00307077 Associated disease NDD Diagnosis/Initial neurodegeneration Diagnosis/Definite - Phenotype details birth height 47 cm (-2.28 SD), weight 3,350 g (-0.6 SD), OFC 33 cm (-1.32 SD); height 144.6 cm (-0.82 SD), weight 30 kg (-1.99 SD), OFC 52 cm (-1.01 SD); developmental delay; intellectual disability; speech dealy; attention deficit hyperactivity disorder; learning disorder; hypotonia; no epilepsy; atrial septal defect, mild mitral valve prolapse; pes planus, mild legs asymmetry (5 mm); prominent metopic ridge, bitemporal narrowing, hypertelorism, downslanting palpebral fissures, ptosis, low-set posteriorly rotated ears, wide nasal bridge, prominent and pointed chin, low posterior hairline; 1 cafè au lait spot, 3 hypochromic spots; cryptorchidism; no GER; no recurrent infections; periphery lymphedema; no bleeding, no easy bruising; no hearing problems; cavum setto pellucido; normal abdominal ultrasound Inheritance Familial, autosomal recessive Age/Examination 12y (12 years) 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 2020-07-30 09:03:17 +02:00 (CEST) Date last edited N/A

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