All individuals with variants in gene MAPKBP1

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AscendingIndividual ID     
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00303354 Pat42 Den Hoedt ESHG2020 C02.2, PubMed: Kaplanis 2020, PubMed: Den Hoed 2021, Journal: Den Hoed 2021 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - NDD see paper; ..., no abnormalities during pregnancy; normal delivery; birth term; mild intellectual disability; developmental delay, mild; motor delay, mild; speech delay, severe, 6y-no speech; no dysarthria; no epilepsy; 4m-mild, generalized hypotonia; no spasticity; no ataxia; MRI brain normal (infancy); no regression; no other neurological abnormalities; no facial dysmorphisms; no dental/oral abnormalities; no drooling, dysphagia; no hearing abnormalities; no vision abnormalities; no cardiac abnormalities; no skeletal abnormalities, no limb abnormalities; hypermobility joints; mild constipation; no urogenital abnormalities; No; normal skin, normal hair, normal nails; no neoplasms 1 1 Johan den Dunnen
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