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MCID: PLT022
MIFTS: 23
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Pili Torti, Early-Onset
Categories:
Neuronal diseases, Oral diseases, Rare diseases, Skin diseases
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MalaCards integrated aliases for Pili Torti, Early-Onset:
Name: Pili Torti, Early-Onset
58
Characteristics:Orphanet epidemiological data:60
pili torti
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal; OMIM:58
Inheritance:
autosomal recessive autosomal dominant isolated cases
Miscellaneous:
onset in early childhood hair may normalize at puberty HPO:33
pili torti, early-onset:
Inheritance autosomal dominant inheritance autosomal recessive inheritance sporadic Classifications:
MalaCards categories:
Global: Rare diseases Anatomical: Skin diseases Neuronal diseases Oral diseases
ICD10:
35
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OMIM
:
58
Pili torti, or twisted hair, is a condition in which the hair shafts are flattened and rotated along their long axis. Hairs are fragile and break at short length. Some patients may have associated dental or nail findings, and many have resolution of the fragile hair at puberty (review by Dawber, 1996).
Pili torti is also a feature in several disorders, including Bjornstad syndrome (BJS; 262000), Bazex syndrome (BZX; 301845), and Menkes disease (309400). (261900)
MalaCards based summary : Pili Torti, Early-Onset, also known as twisted hair, is related to pili torti developmental delay neurological abnormalities and pili torti and developmental delay. Affiliated tissues include skin, and related phenotypes are pili torti and brittle hair |
Human phenotypes related to Pili Torti, Early-Onset:60 33 (show all 13)
Symptoms via clinical synopsis from OMIM:58Clinical features from OMIM:261900 |
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MalaCards organs/tissues related to Pili Torti, Early-Onset:42
Skin
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Search
GEO
for disease gene expression data for Pili Torti, Early-Onset.
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