Syndromic autism

chromosomal condition

neurodevelopmental disorder caused by a deletion of around 27 genes in chromosome 7, characterized by a broad forehead, underdeveloped chin, short nose, full cheeks, challenges with visual tasks, increased empathy and decreased aggression

genetic brain disorder

genetic condition in humans

T cell deficiency disease that is the result of a large deletion of chromosome 22, which includes the DGS gene needed for development of the thymus and related glands with subsequent lack of T-cell production

congenital disorder of nervous system

rare multisystem genetic disease that causes benign tumors to grow in the brain and on other vital organs

congenital, genetically widespread disease considered to be a type of dwarfism affecting boys and girls equally

type of neurofibromatosis disease

genetic disease

autosomal recessive disease that occurs rarely and is characterized by excessive physical growth during the first 2 to 3 years of life

an inborn error of cholesterol synthesis, caused by a mutation in the enzyme 7-Dehydrocholesterol reductase

multiple congenital anomaly caused by deletion on chromosome 11, often featuring intellectual disabilities, dysmorphic features, delayed development and heart defects.

syndrome that is characterized by a pattern of congenital anomalies including choanal atresia and malformations of the heart, inner ear, and retina

syndrome that is characterized by incomplete development of the ear, nose, soft palate, lip, and mandible. It is associated with anomalous development of the first branchial arch and second branchial arch

human disease

rare genetic disorder characterized by developmental delay, epilepsy, distinctive facial features, and possible intermittent hyperventilation followed by apnea

autosomal dominant disease that is characterized by cardiac, hand/foot, facial, and neurodevelopmental features; the two forms are type 1 (classic) and type 2, a rare form that has material basis in mutations in a transcript variant of CACNA1C

a rare genetic developmental disorder characterized by microcephaly, characteristic facial features, hypotonia, non-progressive intellectual deficit, myopia and retinal dystrophy, neutropenia and truncal obesity

rare genetic condition in humans

rare human disease caused by partial deletion of the long arm of chromosome 17

human disease

rare disease caused by prenatal exposure to valproic acid (VPA)