{
  "abstract": "IntroductionHIDEA (hypotonia, intellectual disability, dysautonomia, epilepsy and abnormalities of the eye) syndrome is a rare autosomal recessive neurodevelopmental disorder caused by biallelic mutations in the P4HTM gene located on chromosome 3. It is characterised by a constellation of features including hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy and ocular abnormalities. Since its initial description in 2014 in Finnish patients, cases have been reported globally, with increasing recognition in diverse populations across Europe, the Middle East and Asia. To date, fewer than 50 cases have been documented worldwide, underscoring its rarity.Case seriesThis report describes the clinical and genetic findings of three children from Southern India with confirmed HIDEA syndrome—the first genetically confirmed case series from the region.ConclusionIn countries with high prevalence of consanguinity, it is essential for paediatricians to recognise the mulitisystem manifestations of this syndrome to facilitate early diagnosis, managmenent and appropriate genetic counselling.",
  "authors": [
    {
      "affiliations": [
        "Department of Paediatrics, Christian Medical College and Hospital, Vellore, India"
      ],
      "name": "Roshni Rajan"
    },
    {
      "affiliations": [
        "Department of Clinical Genetics, Christian Medical College and Hospital, Vellore, India"
      ],
      "name": "Rekha Aaron"
    },
    {
      "affiliations": [
        "Department of Paediatrics, Christian Medical College and Hospital, Vellore, India"
      ],
      "name": "Chinta A Jyothirmayee, 1"
    },
    {
      "affiliations": [
        "Department of Paediatrics, Christian Medical College and Hospital, Vellore, India"
      ],
      "name": "Daniel Devadason"
    },
    {
      "affiliations": [
        "Department of Paediatric Respiratory Medicine, Christian Medical College and Hospital, Vellore, India"
      ],
      "name": "Priyanka Medhi"
    },
    {
      "affiliations": [
        "Department of Clinical Genetics, Christian Medical College and Hospital, Vellore, India"
      ],
      "name": "Lois Sara Dani"
    },
    {
      "affiliations": [
        "Department of Paediatrics, Christian Medical College and Hospital, Vellore, India"
      ],
      "name": "Magdalenal J Arockiaraj"
    },
    {
      "affiliations": [
        "Department of Paediatric Respiratory Medicine, Christian Medical College and Hospital, Vellore, India"
      ],
      "name": "Shihab Zahoor"
    },
    {
      "affiliations": [
        "Department of Paediatric Respiratory Medicine, Christian Medical College and Hospital, Vellore, India"
      ],
      "name": "Madhan Kumar"
    },
    {
      "affiliations": [
        "Department of Paediatric Neurology, Christian Medical College and Hospital, Vellore, India"
      ],
      "name": "Maya M Thomas"
    },
    {
      "affiliations": [
        "Department of Paediatric Respiratory Medicine, Christian Medical College and Hospital, Vellore, India"
      ],
      "name": "Sneha Varrki"
    }
  ],
  "title": "Expanding the clinical, genetic and geographic landscape of HIDEA syndrome: Southern Indian cases with a novel mutation and a review of literature",
  "uid": "86c2e7b5-050b-5af1-a31d-8a92b28d6667"
}