Global Variome shared LOVD

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

Phenotype #0000254800 Individual ID 00359547 Associated disease ? Diagnosis/Initial - Diagnosis/Definite - Phenotype details birth 34w, weight 2.4kg; weight 16.1kg, height 115cm; >1y-sit, >2y-stand; no speech; autistic (HP:0000729), aggressive behavioural pattern (HP:0000718), moderate ID (HP:0002342), delayed motor milestones (HP:0001270), lack of speech (HP:0001344), muscular hypotonia (HP:0001252); severe brain abnormalities, enlarged paranasal (HP:00000245), distended straight sinus, cerebral atrophy (HP:0002059), simplified gyral pattern (HP:0009879), ventriculomegaly third and lateral ventricles (HP:0002119), atrophy corpus callosum (HP:0007371), prominent sylvian fissures (HP:0100952); acneiform lesions with dry skin (HP:0000958); minor dysmorphic features abnormal outer ear (HP:0000356), wide forehead (HP:0000337), flared eyebrows (HP:0011229), V-shaped, thin upper lip (HP:0000219), increased internipple distance (HP:0006610) Inheritance Familial, autosomal recessive Age/Examination 05y (5 years) Age/Diagnosis - Age/Onset 00y00m01d Phenotype/Onset - Protein - Tumor/MSI - Diagnosis/Criteria - Owner name Evren Gümüş Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2019-11-06 09:22:19 +01:00 (CET) Date last edited 2021-03-25 09:24:39 +01:00 (CET)

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