Childhood-onset neurodegeneration, stress-induced, with variable ataxia and seizures
CONDSIAS

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Prevalence (%) of clinical parameters based on data from 1 references describing 12 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
Ataxia nervous 100 % 30401461 2019-08-27
Neuropathy nervous 88 % 30401461 2019-08-27
Developmental delay nervous 83 % 30401461 2019-08-27
Cerebellar atrophy nervous 73 % 30401461 2019-08-27
Microcephaly nervous 60 % 30401461 2019-08-27
Seizures nervous 55 % 30401461 2019-08-27
Respiratory failure respiratory 50 % 30401461 2019-08-27
Basal ganglia pathology nervous 27 % 30401461 2019-08-27
Leukodystrophy nervous 20 % 30401461 2019-08-27
Nystagmus nervous 18 % 30401461 2019-08-27
Strabismus nervous 18 % 30401461 2019-08-27
Myoclonus skeletal 17 % 30401461 2019-08-27
Hearing loss nervous 11 % 30401461 2019-08-27
Ophthalmoplegia nervous 9 % 30401461 2019-08-27



List of references:


Bi-allelic ADPRHL2 Mutations Cause Neurodegeneration with Developmental Delay, Ataxia, and Axonal Neuropathy.
Katharina Danhauser, Bader Alhaddad, Christine Makowski, Dorota Piekutowska-Abramczuk, Steffen Syrbe, Natalia Gomez-Ospina, Melanie A Manning, Anna Kostera-Pruszczyk, Claudia Krahn-Peper, Riccardo Berutti, Reka Kovács-Nagy, Mirjana Gusic, Elisabeth Graf, Lucia Laugwitz, Michaela Röblitz, Andreas Wroblewski, Hans Hartmann, Anibh M Das, Eva Bültmann, Fang Fang, Manting Xu, Ulrich A Schatz, Daniela Karall, Herta Zellner, Edda Haberlandt, René G Feichtinger, Johannes A Mayr, Thomas Meitinger, Holger Prokisch, Tim M Strom, Rafał Płoski, Georg F Hoffmann, Maciej Pronicki, Penelope E Bonnen, Susanne Morlot, Tobias B Haack,



American journal of human genetics - Nov 2018