Keyphrases
Microphthalmia
100%
Autosomal Recessive
100%
Homozygous mutation
100%
Consanguineous Family
100%
Exome Sequencing
40%
Coloboma
40%
Intellectual Disability
40%
Anophthalmia
40%
Clinical Spectrum
20%
Autism Spectrum Disorder
20%
Normal Development
20%
Developmental Delay
20%
Eye Development
20%
Affected Siblings
20%
Autism
20%
Homozygous Missense mutation
20%
Clinical Variation
20%
Cyst
20%
Biochemistry, Genetics and Molecular Biology
Exome Sequencing
100%
Autosomal Recessive Inheritance
100%
Intellectual Disability
100%
Missense Mutation
50%
Eye Development
50%
Development
50%
Medicine and Dentistry
Microphthalmia
100%
Autosomal Recessive Inheritance
100%
Anophthalmia
40%
Coloboma
40%
Exome Sequencing
40%
Eye Development
20%
Pervasive Developmental Disorder
20%
Missense Mutation
20%
Development
20%
Autism
20%
Developmental Delay
20%