Trichothiodystrophy

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Prevalence (%) of clinical parameters based on data from 1 references describing 112 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
Brittle hair integumentary 96 % 18603627 2011-11-29
Developmental delay nervous 86 % 18603627 2011-11-29
Short stature multi 73 % 18603627 2011-11-29
Ichthyosis integumentary 65 % 18603627 2011-11-29
Microcephaly nervous 50 % 18603627 2011-11-29
Sun sensitivity integumentary 42 % 18603627 2011-11-29
Recurrent infections lymphatic 36 % 18603627 2011-11-29
Cataract nervous 29 % 18603627 2011-11-29
Ataxia nervous 26 % 18603627 2011-11-29
Hearing loss nervous 20 % 18603627 2011-11-29
Demyelination nervous 14 % 18603627 2012-01-10
Nystagmus nervous 14 % 18603627 2011-11-29
Hyperactive reflexes nervous 13 % 18603627 2011-11-29
Hypogonadism nervous 12 % 18603627 2011-11-29
Anemia circulatory 12 % 18603627 2011-11-29
Strabismus nervous 10 % 18603627 2011-11-29
Tremor nervous 7 % 18603627 2011-11-29
Seizures nervous 6 % 18603627 2011-11-29
Dysarthria nervous 4 % 18603627 2011-11-29
Cerebellar atrophy nervous 4 % 18603627 2011-11-29
Cerebral atrophy nervous 4 % 18603627 2011-11-29



List of references:


Trichothiodystrophy: a systematic review of 112 published cases characterises a wide spectrum of clinical manifestations.
S Faghri, D Tamura, K H Kraemer, J J Digiovanna,



Journal of medical genetics - Oct 2008