Phenotype #0000296518

Individual ID 00403838
Associated disease NDD
Diagnosis/Initial neurodevelopmental delay
Diagnosis/Definite -
Phenotype details abnormal pregnancy early gestosis, low birth labor activity, birth 40w, length 56cm, weight 4000g; weight 14 kg (3rd percentile), height 110 cm (50th percentile), OFC 49 cm (3rd percentile), brachicephaly; from birth delayed motor development; 1m-head control; not sitting; 2y2m-walk; no speech; regression; moderate-severe developmental delay; IQ43 (WISC); no autism; attention disorder; hypertonia of upper limbs S>D; ataxia; increased reflexes, asymmetry, Babinsky syndrome on both sides; dystonia of leg muscles last year; 22m-epilepsy, myoclonic seizures, seizure free since 1.5m, trigger fever; EEG normal; normal sleep; MRI brain hypoplasia corpus callosum, moderate to severe periventricular leukomalaci as a consequence of hypoxic ischemic brain injury; normal routine blood tests; normal vision; no hearing loss; normal skin; mild dysmorphism; eastern strabismus; normal nose; normal philtrum; normal mouth; normal lips; normal jaw; gotic palate; normal chin; dysmorphic ears; hypermobility joints; flat-footed; Ultrasound of internal organs normal; metabolites blood was not detected, disease slowly worsened until 14y, after which it stabilized without any syndromic disorder
Inheritance Familial, autosomal recessive
Age/Examination 5y (5 years)
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 2022-02-24 15:46:26 +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.