Congenital Heart Defect
Gene: HYAL2
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Muggenthaler-Chowdhury-Chioza syndrome, MIM# 621063
Combined reported phenotypic features of 17 individuals from both studies
• Hyperterlorism 13/16
• External ear anomalies – 11/14
• Cleft lip/palate – 10/17
• Micrognathia – 9/14
• Cardiac anomalies 12/17
• Frontal bossing 5/14
• Ptosis 5/13
• Pectus excavatum 7/16
• Myopia 11/11
• Cataract 2/8
• Hearing loss 7/16
Sources: LiteratureCreated: 4 Feb 2022, 4:43 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Cleft lip and palate; cor triatriatum; congenital cardiac malformations
Publications
Phenotypes for gene: HYAL2 were changed from Cleft lip and palate; cor triatriatum; congenital cardiac malformations to Muggenthaler-Chowdhury-Chioza syndrome, MIM# 621063
Gene: hyal2 has been classified as Green List (High Evidence).
Gene: hyal2 has been classified as Green List (High Evidence).
gene: HYAL2 was added gene: HYAL2 was added to Congenital Heart Defect. Sources: Literature Mode of inheritance for gene: HYAL2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HYAL2 were set to 34906488; 28081210; 23172227; 26515055 Phenotypes for gene: HYAL2 were set to Cleft lip and palate; cor triatriatum; congenital cardiac malformations Review for gene: HYAL2 was set to GREEN