Syndromes with intellectual disabilities

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

human disease

group of conditions that can occur in a person whose mother drank alcohol during pregnancy

human medical condition

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

epilepsy characterized by frequent febrile seizures and with onset before 1 year

genetic disease

neurological and skin disorder associated with port-wine stains of the face, glaucoma, seizures, intellectual disability, and cerebral malformations

rare disease

disease

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

Human disease

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

genetic disorder affecting the cerebellum

Human disease

human disease

genetic disorder that results in the buildup of glycosaminoglycans (AKA GAGs, or mucopolysaccharides) due to a deficiency of alpha-L iduronidase

chromosomal disorder

autosomal recessive disease characterized by intrauterine growth retardation and postnatal dwarfism with microcephaly and intellectual disability

congenital disorder of digestive system

genetic disease that is characterized by underdevelopment of the tips of fingers or toes, underdevelopment or abscense of finger or toe nails and developmental disability

genetic disorder that is X-linked dominant

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

alpha thalassemia that has material basis in mutation in the ATRX gene on Xq21

rare genetic disorder

Human disease

rare genetic condition in humans

syndrome that is characterized by advanced bone age, failure to thrive, respiratory problems, dysmorphic facial features, and variable mental retardation

genetic condition in humans

autosomal recessive congenital disorder

lysosomal storage disease

syndrome that is an autosomal recessive disorder, which is characterized by corpus callosum agenesis, polydactyly, multiple dysmorphic features, motor and mental retardation

medical condition

medical condition

Keutel syndrome is characterised by diffuse cartilage calcification, brachytelephalangism, peripheral pulmonary artery stenoses and facial dysmorphism

CHIME syndrome is a rare ectodermal dysplasia syndrome characterized by ocular colobomas, cardiac defects, ichthyosiform dermatosis, intellectual disability, conductive hearing loss and epilepsy

rare autosomal recessive inherited syndrome. It is characterized by xeroderma pigmentosum, mental retardation, dwarfism, hypogonadism, and neurologic abnormalities

Human disease

autosomal dominant disease that is characterized by low birth weight and growth retardation, bilateral branchial clefts

a rare multisystem disease characterized by intrauterine growth retardation, microcephaly, cerebellar hypoplasia, progressive combined immune deficiency and aplastic anemia.

Schinzel-Giedion syndrome (SGS) is an ectodermal dysplasia syndrome chiefly characterized by a distinctive facial dysmorphism, hydronephrosis, severe developmental delay, typical skeletal malformations, and genital and cardiac anomalies

medical condition

human disease

hereditary spastic paraplegia that is characterized by hydrocephalus, spasticity of the lower limbs, adducted thumbs, aphasia, seizures, agenesis of the corpus callosum and intellectual disability in the mild to moderate range