Hypotonia Latest Advances

AUTS2 Gene Variant Causing Intellectual Developmental Disorder, Autosomal Dominant 26 (MRD26): A Report of a Paediatric Case From the Arabian Peninsula.

Journal: Cureus

Published: June 15, 2026

Natural History of Prenatally Identified Children with 48,XXYY Syndrome in Infancy and Early Childhood.

Journal: medRxiv : the preprint server for health sciences

Published: June 12, 2026

Congenital myasthenic syndrome due to novel GFPT1 variant presenting with head drop and visual impairment: A case report.

Journal: Journal of neuromuscular diseases

Published: June 05, 2026

Association between upper airway obstruction and pulmonary hypertension in children with Down syndrome.

Journal: Current opinion in pulmonary medicine

Published: May 27, 2026

A novel mouse model of rare neurodevelopmental disorder, TBCK Syndrome.

Journal: bioRxiv : the preprint server for biology

Published: May 25, 2026

Farber Lipogranulomatosis With Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy: Expanding the Phenotypic Spectrum.

Journal: Journal of child neurology

Published: May 23, 2026

Prenatal-Onset Lethal Adenylosuccinate Lyase Deficiency Diagnosed by Rapid Whole Genome Sequencing: A Case Report.

Journal: Cureus

Published: May 23, 2026

Visual stimulation therapy in spinocerebellar ataxia type 29: Case report.

Journal: European journal of ophthalmology

Published: May 21, 2026

Acute Choreoathetosis and Multisystem Inflammatory Syndrome in Children (MIS-C) Associated With a Novel Homozygous MDH2 Variant.

Journal: Journal of child neurology

Published: May 19, 2026

Sotos syndrome: Report of a new pathogenic variant in the NSD1 gene in an adolescent.

Journal: Archivos argentinos de pediatria

Published: May 19, 2026

Severe Neonatal Presentation of Cornelia de Lange Syndrome With Fatal Outcome: A Case Report.

Journal: Cureus

Published: May 14, 2026

Possible Association Between Etanercept Use During Breastfeeding and Infant Somnolence, Hypotonia, and Feeding Difficulties: A Case Report and Literature Review.

Journal: Breastfeeding medicine : the official journal of the Academy of Breastfeeding Medicine

Published: May 07, 2026

Hypotonia Latest Advances

Find the Latest Research About Hypotonia

AUTS2 Gene Variant Causing Intellectual Developmental Disorder, Autosomal Dominant 26 (MRD26): A Report of a Paediatric Case From the Arabian Peninsula.

AUTS2 Gene Variant Causing Intellectual Developmental Disorder, Autosomal Dominant 26 (MRD26): A Report of a Paediatric Case From the Arabian Peninsula.

Natural History of Prenatally Identified Children with 48,XXYY Syndrome in Infancy and Early Childhood.

Natural History of Prenatally Identified Children with 48,XXYY Syndrome in Infancy and Early Childhood.

Congenital myasthenic syndrome due to novel GFPT1 variant presenting with head drop and visual impairment: A case report.

Congenital myasthenic syndrome due to novel GFPT1 variant presenting with head drop and visual impairment: A case report.

Association between upper airway obstruction and pulmonary hypertension in children with Down syndrome.

Association between upper airway obstruction and pulmonary hypertension in children with Down syndrome.

A novel mouse model of rare neurodevelopmental disorder, TBCK Syndrome.

A novel mouse model of rare neurodevelopmental disorder, TBCK Syndrome.

Farber Lipogranulomatosis With Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy: Expanding the Phenotypic Spectrum.

Farber Lipogranulomatosis With Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy: Expanding the Phenotypic Spectrum.

Prenatal-Onset Lethal Adenylosuccinate Lyase Deficiency Diagnosed by Rapid Whole Genome Sequencing: A Case Report.

Prenatal-Onset Lethal Adenylosuccinate Lyase Deficiency Diagnosed by Rapid Whole Genome Sequencing: A Case Report.

Visual stimulation therapy in spinocerebellar ataxia type 29: Case report.

Visual stimulation therapy in spinocerebellar ataxia type 29: Case report.

Acute Choreoathetosis and Multisystem Inflammatory Syndrome in Children (MIS-C) Associated With a Novel Homozygous MDH2 Variant.

Acute Choreoathetosis and Multisystem Inflammatory Syndrome in Children (MIS-C) Associated With a Novel Homozygous MDH2 Variant.

Sotos syndrome: Report of a new pathogenic variant in the NSD1 gene in an adolescent.

Sotos syndrome: Report of a new pathogenic variant in the NSD1 gene in an adolescent.

Severe Neonatal Presentation of Cornelia de Lange Syndrome With Fatal Outcome: A Case Report.

Severe Neonatal Presentation of Cornelia de Lange Syndrome With Fatal Outcome: A Case Report.

Possible Association Between Etanercept Use During Breastfeeding and Infant Somnolence, Hypotonia, and Feeding Difficulties: A Case Report and Literature Review.

Possible Association Between Etanercept Use During Breastfeeding and Infant Somnolence, Hypotonia, and Feeding Difficulties: A Case Report and Literature Review.