Spastic Paraplegia 49
SPG49

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Prevalence (%) of clinical parameters based on data from 1 references describing 5 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
Hypotonia nervous 100 % 23176824 2019-12-10
Developmental delay nervous 100 % 23176824 2019-12-10
Short stature skeletal 100 % 23176824 2019-12-10
Microcephaly nervous 100 % 23176824 2019-12-10
Dental crowding skeletal 100 % 23176824 2019-12-10
Short neck skeletal 100 % 23176824 2019-12-10
Low anterior hairline integumentary 100 % 23176824 2019-12-10
Dysarthria nervous 100 % 23176824 2019-12-10
Hypomimic nervous 100 % 23176824 2019-12-10
Areflexia nervous 100 % 23176824 2019-12-10
Dysmetria nervous 100 % 23176824 2019-12-10
Gastroesophageal reflux digestive 100 % 23176824 2019-12-10
Sleep apnea nervous 100 % 23176824 2019-12-10
Spasticity nervous 80 % 23176824 2019-12-10
Ataxia nervous 80 % 23176824 2019-12-10
Seizures nervous 40 % 23176824 2019-12-10
Corpus callosum thining nervous 40 % 23176824 2019-12-10
Cerebral atrophy nervous 40 % 23176824 2019-12-10
Cerebellar atrophy nervous 40 % 23176824 2019-12-10
Ankle ulcers circulatory 20 % 23176824 2019-12-10



List of references:


Mutation in TECPR2 reveals a role for autophagy in hereditary spastic paraparesis.
Danit Oz-Levi, Bruria Ben-Zeev, Elizabeth K Ruzzo, Yuki Hitomi, Amir Gelman, Kimberly Pelak, Yair Anikster, Haike Reznik-Wolf, Ifat Bar-Joseph, Tsviya Olender, Anna Alkelai, Meira Weiss, Edna Ben-Asher, Dongliang Ge, Kevin V Shianna, Zvulun Elazar, David B Goldstein, Elon Pras, Doron Lancet,



American journal of human genetics - Dec 2012