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MCID: PLT009
MIFTS: 8
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Pili Torti Developmental Delay Neurological Abnormalities
Categories:
Neuronal diseases, Rare diseases
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MalaCards integrated aliases for Pili Torti Developmental Delay Neurological Abnormalities:
Classifications:External Ids:
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NIH Rare Diseases
:
53
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 2891DefinitionPili torti-developmental delay-neurological abnormalities syndrome is characterized by growth and developmental delay, mild to moderate neurologic abnormalities, and pili torti. It has been described in a brother and his sister born to consanguineous Puerto Rican parents.Visit the Orphanet disease page for more resources.
MalaCards based summary : Pili Torti Developmental Delay Neurological Abnormalities, also known as pili torti and developmental delay, is related to abnormal hair, joint laxity, and developmental delay. An important gene associated with Pili Torti Developmental Delay Neurological Abnormalities is HEPHL1 (Hephaestin Like 1). |
Diseases related to Pili Torti Developmental Delay Neurological Abnormalities via text searches within MalaCards or GeneCards Suite gene sharing:
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Genes related to Pili Torti Developmental Delay Neurological Abnormalities (1 elite genes): - Elite gene
- Cancer Census gene in COSMIC
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ClinVar genetic disease variations for Pili Torti Developmental Delay Neurological Abnormalities:6
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Search
GEO
for disease gene expression data for Pili Torti Developmental Delay Neurological Abnormalities.
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