Global Variome shared LOVD

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

Phenotype #0000093010 Individual ID 00117540 Associated disease ? Diagnosis/Initial neurodevelopmental delay Diagnosis/Definite LAMSHF Phenotype details weight 3rd, height 10th-25th, OFC <2nd (45.4 cm); global developmental disorder, 4y-functioning at 12-24m level; severe mixed receptive/expressive language disorder; aggressive, stereotypies (rocking, hand flapping, spinning, clapping, self injury), severe hyperkinesis; no hypotonia; seizures; mild periventricular leukomalacia; poor articulation; intermittent exotropia; no dysmorphic features; normal hands/feet; normal back/spine; no heart defects; no genital abnormalities Inheritance Isolated (sporadic) Age/Examination 03y06m (3 years, 6 months) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Tumor/MSI - Diagnosis/Criteria - Owner name Blake Ballif Database submission license No license selected Created by Blake Ballif Date created 2011-12-23 19:13:43 +01:00 (CET) Date last edited 2024-01-31 16:23:46 +01:00 (CET)

Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.