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UnknownBiallelic MADD variants cause a phenotypic spectrum ranging from developmental delay to a multisystem disorder.
Not available
S-EPMC7447524 | biostudies-literature
UnknownStereoacuity in children with anisometropic amblyopia.
Not available
S-EPMC3223370 | biostudies-literature
UnknownSPTSSA variants alter sphingolipid synthesis and cause a complex hereditary spastic paraplegia.
Not available
S-EPMC10319774 | biostudies-literature
UnknownEndocannabinoid dysfunction in neurological disease: neuro-ocular DAGLA-related syndrome.
Not available
S-EPMC9586540 | biostudies-literature
UnknownDe novo missense variants in ZBTB47 are associated with developmental delays, hypotonia, seizures, gait abnormalities, and variable movement abnormalities.
Not available
S-EPMC11221546 | biostudies-literature
UnknownLoss of function of FAM177A1, a Golgi complex localized protein, causes a novel neurodevelopmental disorder.
Not available
S-EPMC11451386 | biostudies-literature
UnknownDe novo missense variants in phosphatidylinositol kinase PIP5KIγ underlie a neurodevelopmental syndrome associated with altered phosphoinositide signaling.
Not available
S-EPMC10432144 | biostudies-literature
UnknownContinuing a search for a diagnosis: the impact of adolescence and family dynamics.
Not available
S-EPMC9830697 | biostudies-literature
UnknownProgressive cerebellar atrophy in a patient with complex II and III deficiency and a novel deleterious variant in SDHA: A Counseling Conundrum.
Not available
S-EPMC8222855 | biostudies-literature
UnknownLoss-of-function in RBBP5 results in a syndromic neurodevelopmental disorder associated with microcephaly.
Not available
S-EPMC11648989 | biostudies-literature
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