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UnknownMacrocephaly and developmental delay caused by missense variants in RAB5C.
Not available
S-EPMC10586195 | biostudies-literature
UnknownBiallelic variants in ribonuclease inhibitor (RNH1), an inflammasome modulator, are associated with a distinctive subtype of acute, necrotizing encephalopathy.
Not available
S-EPMC10506156 | biostudies-literature
UnknownDe novo variants in DENND5B cause a neurodevelopmental disorder.
Not available
S-EPMC10940048 | biostudies-literature
UnknownRecurring homozygous ACTN2 variant (p.Arg506Gly) causes a recessive myopathy.
Not available
S-EPMC10963296 | biostudies-literature
UnknownDominant-negative variant in SLC1A4 causes an autosomal dominant epilepsy syndrome.
Not available
S-EPMC10270265 | biostudies-literature
UnknownDe novo variants in MRTFB have gain-of-function activity in Drosophila and are associated with a novel neurodevelopmental phenotype with dysmorphic features.
Not available
S-EPMC11533975 | biostudies-literature
UnknownLoss-of-function in RBBP5 results in a syndromic neurodevelopmental disorder associated with microcephaly.
Not available
S-EPMC11648989 | biostudies-literature
UnknownBi-allelic ATG4D variants are associated with a neurodevelopmental disorder characterized by speech and motor impairment.
Not available
S-EPMC9918471 | biostudies-literature
UnknownDominant negative variants in IKZF2 cause ICHAD syndrome, a new disorder characterised by immunodysregulation, craniofacial anomalies, hearing impairment, athelia and developmental delay.
Not available
S-EPMC11206234 | biostudies-literature
UnknownDominant missense variants in SREBF2 are associated with complex dermatological, neurological, and skeletal abnormalities.
Not available
S-EPMC12358889 | biostudies-literature
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