Global Variome shared LOVD

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

Phenotype #0000230569 Individual ID 00303491 Associated disease ? Diagnosis/Initial - Diagnosis/Definite - Phenotype details birth weight –2 SD; OFC –2 SD; postnatal growth deficiency; developmental delay/initellectual disability, no IQ testing, attention-deficit hyperactivity disorder; no seizures; hypotonia; myopia; café au lait spots; scoliosis; inguinal hernia; unilateral renal agenesis; no lymphatic malformations; recurrent infections, recurrent otitis media; prominent forehead; wide palpebral fissures; unilateral ptosis; high narrow nasal bridge; no flared nostrils; broad nasal tip; low-hanging columella; underdeveloped midface; normal philtrum; no thin upper vermillion; cupid bow mouth; large ears; synophrys, prominent metopic suture; MRI brain no features Inheritance Isolated (sporadic) Age/Examination 10y (10 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Tumor/MSI - Diagnosis/Criteria - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2020-06-15 09:56:59 +02:00 (CEST) Date last edited N/A

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