Phenotype #0000307201

Individual ID 00415407
Associated disease NDD
Diagnosis/Initial -
Diagnosis/Definite -
Phenotype details 40w-birth spontaneaous vaginal, length 45cm (-3.05), weight 2600g (-2.07), OFC 32cm (-2.23); intrauterine growth retardation, diagnosed in the 3rd trimester; height 121.5cm (-1.5), weight 18.8Kg (-2.12), OFC 49.3cm (-2.44), BMI 12.7 (-2.29); learning difficulties; 1y6m-social smile; 9m-sit; 19m-walk; 5y-toilet trained; can dress but has difficulties to tie shoes; 36m-first words, speech delay long-term problem, can read; attends regular school, difficulties with mathematics and logic; no autistic features; shy; no sleep disturbances; no seizures, 4y5m-negative EEG; 4y5m-MRI brain normal; generalized hypotonia; no hearing loss; mild myopia, astygmatism; no pulmonary abnormalities; no cardiovascular abnormalities; feeding difficulties, 6m-fed with NG tube, 4y8m-received gastrostomy, constipation; no genitourinary abnormalities; no metabolic abnormalities; no skeletal/limb abnormalities; relative short and smooth philtrum, micrognathia, dental diastema, protruding ears, increased protusion of the inferior crus (relative to the prominence of the antihelix stem), everted antitragus, small earlobe; Dental enamel hypoplasia; low level of zinc and iron due to denutrition in infancy
Inheritance Isolated (sporadic)
Age/Examination 8y8m (8 years, 8 months)
Age/Diagnosis -
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 2022-08-13 16:30:49 +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.
  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.