Neurodevelopmental Disorder with Spastic Quadriplegia and Brain Abnormalities with or without Seizures

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Prevalence (%) of clinical parameters based on data from 1 references describing 6 individuals

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Pubmed id number as a reference Organ system affected
Number of patients in the reference Percent affected patients (Between 0 and 1, eg. 0.1 = 10%)
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List of symptoms

Symptom/sign Organ system Percent affected Pubmed id Added on(yyyy-mm-dd) Edit/add reference
Developmental delay nervous 100 % 28503735 2019-12-10
Spasticity nervous 100 % 28503735 2019-12-10
Ventricular enlargement brain nervous 100 % 28503735 2019-12-10
Corpus callosum thining nervous 100 % 28503735 2019-12-10
Thinning of cerebral gray matter nervous 100 % 28503735 2019-12-10
Seizures nervous 83 % 28503735 2019-12-10
Microcephaly nervous 50 % 28503735 2019-12-10

List of references:

WDR45B-related intellectual disability, spastic quadriplegia, epilepsy, and cerebral hypoplasia: A consistent neurodevelopmental syndrome.
J Suleiman, D Allingham-Hawkins, M Hashem, H E Shamseldin, F S Alkuraya, A W El-Hattab,

Clinical genetics - Feb 2018