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Micro syndrome
4 OMIM references -
4 associated genes
25 connected diseases
39 signs/symptoms
Disease Type of connection
Cataract - intellectual deficit - hypogonadism
Amyotrophic lateral sclerosis
Adult-onset distal myopathy due to VCP mutation
Adult-onset proximal spinal muscular atrophy, autosomal dominant
Behavioral variant of frontotemporal dementia
Combined deficiency of factor V and factor VIII
Distal myopathy, Nonaka type
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
Pontocerebellar hypoplasia type 2
Progressive non-fluent aphasia
Semantic dementia
Sialuria
Spastic paraplegia - Paget disease of bone
Choroideremia
Distal Xq28 microduplication syndrome
Isolated adermatoglyphia
Joubert syndrome with orofaciodigital defect
X-linked non-syndromic intellectual deficit
Early-onset autosomal dominant Alzheimer disease
Hereditary cerebral hemorrhage with amyloidosis, Arctic type
Hereditary cerebral hemorrhage with amyloidosis, Dutch type
Hereditary cerebral hemorrhage with amyloidosis, Flemish type
Hereditary cerebral hemorrhage with amyloidosis, Iowa type
Hereditary cerebral hemorrhage with amyloidosis, Italian type
Hereditary cerebral hemorrhage with amyloidosis, Piedmont type
Synonym(s):
- WARBM
- Warburg micro syndrome
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare eye disease
- Rare genetic disease
- Rare neurologic disease
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Epidemiological data:
Class of prevalence: unknown
Average age onset: childhood
Average age of death: any age
Type of inheritance: autosomal recessive
External references:
4 OMIM references -
No MeSH references
Gene symbol UniProt reference OMIM reference
RAB18 Q9NP72602207
RAB3GAP1 Q15042602536
RAB3GAP2 Q9H2M9609275
TBC1D20 Q96BZ9611663
Very frequent
- Agyria / micro / pachy / macrogyria / lissencephaly / gyration / neuronal migration defect
- Anophthalmos / anophthalmia / microphthalmos / microphthalmia
- Anteverted nares / nostrils
- Autosomal recessive inheritance
- Broad nasal root
- Cataract / lens opacification
- Corpus callosum / septum pellucidum total / partial agenesis
- High vaulted / narrow palate
- Hypertonia / spasticity / rigidity / stiffness
- Hypotonia
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Late puberty / hypogonadism / hypogenitalism
- Microcephaly
- Microcornea
- Optic nerve anomaly / optic atrophy / anomaly of the papilla
- Restricted joint mobility / joint stiffness / ankylosis
- Short philtrum
- Short stature / dwarfism / nanism
- Short / small nose
- Undescended / ectopic testes / cryptorchidia / unfixed testes
- Visual loss / blindness / amblyopia

Frequent
- Abnormal VEP / Visual evoked potential
- Clitoris / labia majora / labia minora / female external genitalia hypoplasia
- Cortical atrophy without hydrocephaly / cerebral hemiatrophy / subcortical atrophy
- Hirsutism / hypertrichosis / Increased body hair
- Intrauterine growth retardation
- Kyphosis
- Long / large ear
- Low set ears / posteriorly rotated ears
- Micrognathia / retrognathia / micrognathism / retrognathism
- Micropenis / small penis / agenesis
- Retinitis pigmentosa / retinal pigmentary changes
- Scoliosis

Occasional
- Cerebellum / cerebellar vermis anomaly / agenesis / hypoplasia
- Ectopic / horseshoe / fused kidneys
- Megaureter / hydronephrosis / pyeloureteral junction syndrome
- Peripheral neuropathy
- Retinoschisis / retinal / chorioretinal coloboma
- Seizures / epilepsy / absences / spasms / status epilepticus