Phenotype #0000345806

Individual ID 00457343
Associated disease NDD
Diagnosis/Initial neurodevelopmental delay
Diagnosis/Definite NEDLBF
Phenotype details see paper; ..., birth 36w+1; prenatal IUGR, SGA, premature, short femur (prenatal ultrasound); Infant feeding difficulties; failure to thrive; speech problems; motor delay; intellectual disability; no regression of developmental milestones; global developmental delay; no anxiety; no ADHD; no repetitive behavior; no obsessive behavior; no aggressive behavior; no self-injury behavior; no macrocephaly; +(39 cm(<<1st centile)-2Y3M; 41 cm(<<1st centile)-3Y9M;); MRI brain normal; no seizures; no epilepsy; no sleep disturbances; short stature; no congenital heart defects; no gastrointestinal disturbance; mild strephenopodia; congenital abnormal eye development (nystagmus, leukoma,esotropia); no hearing impairment; no hypotonia; round face, asymmetrical palpebral fissure, cup ears, low front hairline, deviated mouth, deep and prominent concha
Inheritance Isolated (sporadic)
Age/Examination 3y9m (3 years, 9 months)
Age/Diagnosis 2y3m
Age/Onset -
Phenotype/Onset -
Owner name Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2024-11-08 11:01:45 +01:00 (CET)
Date last edited N/A

Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.
  Powered by LOVD v.3.0 Build 30b
LOVD software ©2004-2024 Leiden University Medical Center
Database contents © by their respective submitters and curators
 There are currently no updates.