Disease Index
9,486 diseasesmicrocephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
human disease
microcephaly-microcornea syndrome, Seemanova type
MeSH: C537536
microcephaly-micromelia syndrome
human disease
MeSH: C565382
microcephaly-polymicrogyria-corpus callosum agenesis syndrome
human disease
microcephaly-seizures-intellectual disability-heart disease syndrome
Microcephaly-seizures-intellectual disability-heart disease syndrome is characterised by intellectual deficit, a cardiac anomaly, micropenis, hypothyroidism, epileptic seizures, and skeletal anomalies. It has been described in two males.
MeSH: C537544
microcephaly-short stature-intellectual disability-facial dysmorphism syndrome
human disease
microcephaly, short stature, and limb abnormalities
human disease
Microcoria
2 mm in diameter) from birth, peripheral iris hypopigmentation and transillumination defects leading to errors of refraction (myopia, astigmatism) and sometimes juvenile open angle glaucoma
MeSH: C537550
microcornea-corectopia-macular hypoplasia syndrome
Microcornea-corectopia-macular hypoplasia syndrome is characterised by microcornea, which may also be accompanied by corectopia and macular hypoplasia. It has been described in three individuals from two successive generations of one family.
MeSH: C537551
microcornea-glaucoma-absent frontal sinuses syndrome
Microcornea-glaucoma-absent frontal sinuses syndrome is characterised by microcornea, glaucoma and absent frontal sinuses. Less 10 cases have been described so far. The mode of transmission appears to be autosomal dominant.
MeSH: C537552
microcornea-myopic chorioretinal atrophy-telecanthus syndrome
human disease
microcornea-posterior megalolenticonus-persistent fetal vasculature-coloboma syndrome
human disease
Microcystic lymphatic malformation
human disease
Microform holoprosencephaly
Microform holoprosencephaly is a benign form of holoprosencephaly (HPE; see this term) characterized by midline defects without the typical HPE defect in brain cleavage
microgastria-limb reduction defect syndrome
This syndrome is characterised by the association of microgastria with a limb reduction defect
MeSH: C537554
microhydranencephaly
severe abnormality of brain development characterized by both microcephaly and hydranencephaly
MeSH: C537555
Microlissencephaly
microcephaly combined with lissencephaly
microlissencephaly-micromelia syndrome
micromelic dwarfism, Fryns type
human disease
MeSH: C537556
micropenis
unusually small penis
microphthalmia
eye disease where one or both eyeballs are abnormally small
MeSH: D008850
microphthalmia with brain and digit anomalies
human disease
MeSH: C566440
microphthalmia with limb anomalies
Microphthalmia with limb anomalies, also known as ophthalmo-acromelic syndrome (OAS), is a rare developmental disorder characterized by bilateral microphthalmia or anophthalmia, synostosis, syndactyly, oligodactyly and/or polydactyly
MeSH: C537769
microphthalmia-ankyloblepharon-intellectual disability syndrome
human disease
MeSH: C564457
microphthalmia-brain atrophy syndrome
human disease
MeSH: C566985
microphthalmia–dermal aplasia–sclerocornea syndrome
human disease
microscopic colitis
colitis that can only be diagnosed by the examination of colon tissue under a microscope
MeSH: D046728
microscopic polyangiitis
inflammatory, necrotizing, systemic vasculitis that affects predominantly small vessels in multiple organs
ICD: M31.7MeSH: D055953
Microspherophakia
disorder of lens
ICD: Q12.4
Microspherophakia-metaphyseal dysplasia syndrome
Microspherophakia - metaphyseal dysplasia is a very rare syndrome associating bone dysplasia with micromelic dwarfism and eye defects
MeSH: C536540