Category
page 1Syndromes with microcephaly
cri-du-chat syndrome
human medical condition
Patau syndrome
human disease
Smith-Lemli-Opitz syndrome
an inborn error of cholesterol synthesis, caused by a mutation in the enzyme 7-Dehydrocholesterol reductase
chromosome 1p36 deletion syndrome
Human disease
Aicardi-Goutieres syndrome
a rare genetic neurodevelopmental disorder
Seckel syndrome
autosomal recessive disease characterized by intrauterine growth retardation and postnatal dwarfism with microcephaly and intellectual disability
Dubowitz syndrome
genetic disorder
Cohen syndrome
a rare genetic developmental disorder characterized by microcephaly, characteristic facial features, hypotonia, non-progressive intellectual deficit, myopia and retinal dystrophy, neutropenia and truncal obesity
Kleefstra syndrome
Human disease
Nijmegen breakage syndrome
human disease
Stromme syndrome
human disease
Marden–Walker syndrome
medical condition
Al-Raqad syndrome
congenital autosomal recessive syndrome discovered by Jordanian physician Mohammad Al-Raqad
Snijders Blok-Campeau syndrome
medical condition
Genitopatellar syndrome
medical condition
Hoyeraal-Hreidarsson syndrome
a rare multisystem disease characterized by intrauterine growth retardation, microcephaly, cerebellar hypoplasia, progressive combined immune deficiency and aplastic anemia.
Galloway-Mowat syndrome
autosomal recessive disease characterized by is a rare autosomal recessive disease, characterized by microcephaly with brain anomalies including CA in some cases, intellectual disability, and early-infantile-onset nephrotic syndrome