Hypotonia-speech impairment-severe cognitive delay syndrome
Synonyms: IHPRF syndrome | Infantile hypotonia-psychomotor retardation-characteristic facies syndrome
Hypotonia-speech impairment-severe cognitive delay syndrome is a rare genetic neurodegenerative disorder characterized by severe persistent hypotonia (presenting at birth or in early infancy) severe global developmental delay (with poor or absent speech difficulty or inability to roll sit or walk) profound intellectual disability and failure to thrive. Additional manifestations include microcephaly progressive peripheral spasticity bilateral strabismus and nystagmus constipation and variable dysmorphic facial features (including plagiocephaly broad forehead small nose low-set ears micrognathia and open mouth with tented upper lip).
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: //www.orphadata.org. Data version September 2023.
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Genetic Support Network of Victoria
The Genetic Support Network of Victoria is an organisation that supports people living with genetic, undiagnosed and rare conditions and those who support them including community and families, patient support organisations, health professionals and industry. Our vision is our community flourishing and living their best lives.
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Syndromes Without A Name (SWAN) Australia
Provide information, support and advocacy to families caring for a child with an undiagnosed or rare genetic condition.
Neuromuscular Disease Foundation
The Neuromuscular Disease Foundation's (NDF) mission is to enhance the quality of the lives of people living with GNE Myopathy (also known as HIBM) through advocacy, education, outreach, and funding clinical research focused on treatments and a cure.
Association Aux Pas du Coeur
Our organization wants to raise awareness and recognize rare diseases in Côte d'Ivoire. Our mission is to: Raising awareness and campaigning to help with the diagnosis and free therapeutic care of patients. Request and/or contribute to actions relating to the training of the medical profession so that doctors are able to make a final diagnosis and ensure the continuous follow-up of patients. Create a patient registry to establish very precise statistics of rare diseases in Côte d'Ivoire. Create a close-knit patient community. Break the isolation and despair of sick people and their families. Open up to the world and actively contribute to international research aimed at treatments.
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Curing single-gene disorders
COMBINEDBrain is a consortium for outcome measures and biomarkers for neurodevelopmental disorders. We are collaborating to cure rare, non-verbal brain disorders.
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