Language delays, ADHD, cognitive impairment and sometimes cardiac arrhythmia trace back to GNB5 variants, which testing can identify for families.
Reduced fetal movement and joint contractures may appear on prenatal ultrasound, and GLDN variants confirm LCCS11 for genetic counseling.
Developmental delay, hypotonia, seizures, cataracts and cardiomyopathy with left ventricular non-compaction define this neurometabolic disease, confirmed by DNA analysis.
A variant in BAIAP2 disturbs the cytoskeleton and cell movement, leaving the cortex smooth. Genetic testing supports early diagnosis and treatment choices.
Chronic lung disease, weakened immune defense and chromosome breakage form the LICS triad, rooted in DNA repair mutations; genetic testing supports early diagnosis.
Cystic, lymph-filled structures form when lymphatic vessel genes are altered. LM7 diagnosis, targeted therapy prospects and genetic counseling are discussed.
Inheriting two altered copies, one from each parent, is what produces Microcephaly 17; testing shows which mutation is involved and supports early therapy.
A small jaw, repeated infections, behavioral changes and mild intellectual disability make up MRIBAMID, where testing may flag MN1 or variants of uncertain significance.