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Cleft Lip and Palate-Craniofacial Dysmorphism-Congenital Heart Defect-Hearing Loss Syndrome

Alias:
Cleft Lip and Palate-Craniofacial Dysmorphism-Congenital Heart Defect-Deafness Syndrome
Hyaluronidase 2 Deficiency
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Cleft Lip and Palate-Craniofacial Dysmorphism-Congenital Heart Defect-Hearing Loss Syndrome, also known as cleft lip and palate-craniofacial dysmorphism-congenital heart defect-deafness syndrome, is related to heart disease and hyal2 deficiency. An important gene associated with Cleft Lip and Palate-Craniofacial Dysmorphism-Congenital Heart Defect-Hearing Loss Syndrome is HYAL2 (Hyaluronidase 2). Affiliated tissues include heart.
Related ID：
MALACARDS：CLF055

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
--
Newborn
<1/1000000
1
6
--
CLF055

Medical Symptom

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Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available

Gene & Mutation

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Gene
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Mutations
No data available

Related Drugs

Name
CAS Number
Status
Phase
No data available

Disease Model

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Name
MGI
Related Gene
Strain of Origin
Publications
No data available

References Literature

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PMID
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IF
No Data Found!
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