Case Reports in Genetics

45, X/ 46, X, psu idic (Y) (q11.2) Mosaicism in a Primary Amenorrhea Girl with Swyer Syndrome

Prenatal Lethal Diagnosis of 8p23.1 Duplication Syndrome Associated with Omphalocele and Encephalocele

4q25 Microdeletion with Axenfeld-Rieger Syndrome and Developmental Delay

Manifestations of Intellectual Disability, Dystonia, and Parkinson’s Disease in an Adult Patient with ARX Gene Mutation c.558_560dup p.(Pro187dup)

A Case of Congenital Hypotonia and Developmental Delay in an Individual with a De Novo Variant Outside of the Canonical HX-Motif of ATN1

The Benefits of Early versus Late Therapeutic Intervention in Fabry Disease

A Case of Autosomal Recessive Intellectual Developmental Disorder Type 5 Presenting with Epilepsy

A Neonatal Patient Diagnosed with a COL4A1 Mutation Presenting with Hemorrhagic Infarction and Severe Jaundice

Homozygous Autosomal Recessive DIAPH1 Mutation Associated with Central Nervous System Involvement and Aspergillosis: A Rare Case

BAP1 Tumour Predisposition Syndrome Due to Whole BAP1 Gene Deletion

An Atypical Presentation of Pyridoxine-Dependent Epilepsy Diagnosed with Whole Exome Sequencing and Treated with Lysine Restriction and Supplementation with Arginine and Pyridoxine

Rapid Progression of Heterotopic Ossification in Severe Variant of Fibrodysplasia Ossificans Progressiva with p.Arg258Gly in ACVR1: A Case Report and Review of Clinical Phenotypes

Novel Homozygous TTI2 Variant Causing Autosomal Recessive Syndromic Intellectual Disability and Primary Microcephaly from Pakistan: A Case Report (Exome Report)

Case Report of Fibro-Adipose Vascular Anomaly (FAVA) with Activating Somatic PIK3CA Mutation

Novel EPG5 Mutation Associated with Vici Syndrome Gene

Case Reports in Genetics

Table of Contents

Table of Contents

45, X/ 46, X, psu idic (Y) (q11.2) Mosaicism in a Primary Amenorrhea Girl with Swyer Syndrome

Prenatal Lethal Diagnosis of 8p23.1 Duplication Syndrome Associated with Omphalocele and Encephalocele

4q25 Microdeletion with Axenfeld-Rieger Syndrome and Developmental Delay

Manifestations of Intellectual Disability, Dystonia, and Parkinson’s Disease in an Adult Patient with ARX Gene Mutation c.558_560dup p.(Pro187dup)

A Case of Congenital Hypotonia and Developmental Delay in an Individual with a De Novo Variant Outside of the Canonical HX-Motif of ATN1

The Benefits of Early versus Late Therapeutic Intervention in Fabry Disease

A Case of Autosomal Recessive Intellectual Developmental Disorder Type 5 Presenting with Epilepsy

A Neonatal Patient Diagnosed with a COL4A1 Mutation Presenting with Hemorrhagic Infarction and Severe Jaundice

Homozygous Autosomal Recessive DIAPH1 Mutation Associated with Central Nervous System Involvement and Aspergillosis: A Rare Case

BAP1 Tumour Predisposition Syndrome Due to Whole BAP1 Gene Deletion

An Atypical Presentation of Pyridoxine-Dependent Epilepsy Diagnosed with Whole Exome Sequencing and Treated with Lysine Restriction and Supplementation with Arginine and Pyridoxine

Rapid Progression of Heterotopic Ossification in Severe Variant of Fibrodysplasia Ossificans Progressiva with p.Arg258Gly in ACVR1: A Case Report and Review of Clinical Phenotypes

Novel Homozygous TTI2 Variant Causing Autosomal Recessive Syndromic Intellectual Disability and Primary Microcephaly from Pakistan: A Case Report (Exome Report)

Case Report of Fibro-Adipose Vascular Anomaly (FAVA) with Activating Somatic PIK3CA Mutation

Novel EPG5 Mutation Associated with Vici Syndrome Gene