Global Variome shared LOVD

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

Phenotype #0000230575 Individual ID 00303497 Associated disease ? Diagnosis/Initial - Diagnosis/Definite - Phenotype details birth weight 0 SD, OFC +1.5 SD; postnatal weight –1.3 SD, OFC +0.25 SD; no postnatal growth deficiency; severe developmental delay/initellectual disability; 4 febrile seizures; no hypotonia, no contractures; no endocrine issues; no hypothyroidism; no immunodeficiency; long thin fingers; Astigmatism; normal skin; no pectus; no scoliosis; bilateral inguinal hernia; ventricular septal defect, patent foramen ovale; no gastrourigenital defects; no lymphatic malformations; recurrent infections; sparse hair; sparse eyebrows; broad forehead,prominent forehead; mild hypertelorism; no wide palpebral fissures; no everted lateral eyelids; no epicanthal folds; bilateral ptosis; wise nasal bridge; flared nostrils; broad nasal tip; no low-hanging columella; underdeveloped midface; long philtrum; thin upper vermillion; cupid bow mouth; low-set ears; MRI brain subependymal heterotopia, partial agenesis corpus callosum Inheritance Isolated (sporadic) Age/Examination 5y (5 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

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