Chromosome 6pter-P24 Deletion Syndrome

Alias:
6p Subtelomeric Deletion Syndrome
6p25 Microdeletion Syndrome
Distal Deletion 6p25
Distal Monosomy 6p
Distal Deletion 6p
Monosomy 6pter
Monosomy 6p25
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Chromosome 6pter-P24 Deletion Syndrome, also known as 6p subtelomeric deletion syndrome, is related to branchiooculofacial syndrome and peters-plus syndrome. An important gene associated with Chromosome 6pter-P24 Deletion Syndrome is DEL6PTER (Chromosome 6pter Deletion Syndrome). Affiliated tissues include eye and skin, and related phenotypes are global developmental delay and hypertelorism
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
--
Newborn
<1/1000000
8
37
17

Medical Symptom

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Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available

Gene & Mutation

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Related Drugs

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No data available

Disease Model

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MGI
Related Gene
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Publications
No data available

References Literature

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