Genetic syndromes

chromosomal condition

rare genetic disorder

metabolic disorder in which the liver processes bilirubin slowly

human disease affecting newborns

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

Human disease

genetic disorder affecting the cerebellum

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

chromosomal disorder

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

amino acid metabolic disorder characterized by recessive X-linked inhetiance, impaired monoamine metabolism, impulsive aggressiveness and mild mental retardation that has material basis in mutation in the MAOA gene on chromosome location Xp11

very rare disorder with features of premature aging recognizable at birth, decreased subcutaneous fat, hypotrichosis, relative macrocephaly and dysmorphism

autosomal recessive disease characterized by neuromyotonia and chondrodysplasia that has material basis in hypomorphic mutations in the HSPG2 gene on chromosome 1p36

syndrome characterized by the combination of lower lip pits, cleft lip with or without cleft palate and cleft palate alone

genetic condition in humans

Human disease

3-methylglutaconic aciduria that has material basis in mutation in the OPA3 gene

autosomal dominant non-syndromic intellectual disability that has material basis in an autosomal dominant mutation of ADNP on chromosome 20q13.13

congenital autosomal recessive syndrome discovered by Jordanian physician Mohammad Al-Raqad

medical condition

range of genetic disorders which cause a person to appear to grow older faster

syndrome characterized by a combination of multiple joint contractures and osteogenesis imperfecta

Human disease

monogenic disease that is characterized by hypertelorism, hypospadias, and additional midline defects resulting from mutations to the MID1 gene in the X-linked form or from a deletion on chromosome 22q11.2 in the autosomal dominant form

Human disease

hereditary disease

Lethal ataxia with deafness and optic atrophy (also known as Arts syndrome) is characterized by intellectual deficit, early-onset hypotonia, ataxia, delayed motor development, hearing impairment and loss of vision due to optic atrophy

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

Holoprosencephaly-postaxial polydactyly syndrome associates, in chromosomally normal neonates, holoprosencephaly, severe facial dysmorphism, postaxial polydactyly and other congenital abnormalities, suggestive of trisomy 13 (see this term)

human disease