MEDLIB
Orphanet Database

Rare diseases

7,547 diseases with genetics, phenotypes, and epidemiology

7,547Diseases
4 552Genes
8 700Phenotypes

Microcephaly-albinism-digital anomalies syndrome

ORPHA:2513Malform.
Unknown

Microcephaly-brachydactyly-kyphoscoliosis syndrome

ORPHA:3433Malform.
Autosomal recessive

Microcephaly-brain defect-spasticity-hypernatremia syndrome

ORPHA:2523Malform.

Microcephaly-capillary malformation syndrome

ORPHA:294016Malform.
Autosomal recessive

Microcephaly-cardiac defect-lung malsegmentation syndrome

ORPHA:2516Malform.
Autosomal recessive

Microcephaly-cardiomyopathy syndrome

ORPHA:2515Malform.
Autosomal recessive

Microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome

ORPHA:329332Malform.
Autosomal recessive

Microcephaly-cervical spine fusion anomalies syndrome

ORPHA:2522Malform.
Autosomal recessive

Microcephaly-cleft palate-abnormal retinal pigmentation syndrome

ORPHA:2521Malform.
Unknown

Microcephaly-complex motor and sensory axonal neuropathy syndrome

ORPHA:423894Disease
Autosomal recessive

Microcephaly-congenital cataract-psoriasiform dermatitis syndrome

ORPHA:488168Malform.
Autosomal recessive

Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom

ORPHA:500159Malform.
Autosomal dominant

Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome

ORPHA:457284Malform.
Autosomal dominant

Microcephaly-deafness-intellectual disability syndrome

ORPHA:2533Malform.

Microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndrome

ORPHA:521445Malform.
Autosomal dominant

Microcephaly-facio-cardio-skeletal syndrome, Hadziselimovic type

ORPHA:217026Malform.
Unknown

Microcephaly-glomerulonephritis-marfanoid habitus syndrome

ORPHA:2172Malform.
Autosomal recessive

Microcephaly-hearing loss-facial dysmorphism-intellectual disability syndrome

ORPHA:662179Malform.
Autosomal dominant

Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome

ORPHA:457351Malform.
Autosomal recessive

Microcephaly-lymphedema-chorioretinopathy syndrome

ORPHA:2526Malform.
Autosomal dominant

Microcephaly-microcornea syndrome, Seemanova type

ORPHA:2528Malform.

Microcephaly-micromelia syndrome

ORPHA:572768Clin. sub.
Autosomal recessive

Microcephaly-polymicrogyria-corpus callosum agenesis syndrome

ORPHA:171703Malform.
Autosomal recessive

Microcephaly-seizures-intellectual disability-heart disease syndrome

ORPHA:2519Malform.
Unknown