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Micro syndrome
4 OMIM references -
4 associated genes
39 signs/symptoms
PROTEIN INTERACTIONS: 1
COMMON SIGNS: 1
Hereditary cerebral hemorrhage with amyloidosis, Italian type
1 OMIM reference -
1 associated gene
7 signs/symptoms
Micro syndrome
Hereditary cerebral hemorrhage with amyloidosis, Italian type

RAB18
(UniProt - OMIM)
 APP
(UniProt - OMIM)
RAB3GAP1
(UniProt - OMIM)
RAB3GAP2
(UniProt - OMIM)
TBC1D20
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
TBC1D20
(0.56)
APP


Citations in the biomedical literature:


Micro syndrome
RAB18 RAB3GAP1 RAB3GAP2 TBC1D20
Hereditary cerebral hemorrhage with amyloidosis, Italian type
APP



Micro syndrome
Hereditary cerebral hemorrhage with amyloidosis, Italian type

Synonym(s):
- WARBM
- Warburg micro syndrome
Synonym(s):
- HCHWA, Italian type
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare eye disease
- Rare genetic disease
- Rare neurologic disease
Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
- Rare systemic or rheumatologic disease
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
(no data available)
Epidemiological data:
Class of prevalence: unknown
Average age onset: childhood
Average age of death: any age
Type of inheritance: autosomal recessive
Epidemiological data:
(no data available)
External references:
4 OMIM references -
No MeSH references
External references:
1 OMIM reference -
No MeSH references
COMMON
SIGNS 		- Seizures / epilepsy / absences / spasms / status epilepticus

Micro syndrome
Hereditary cerebral hemorrhage with amyloidosis, Italian type

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


Very frequent
- Autosomal dominant inheritance
- Facial pain / cephalalgia / migraine
- Intracranial / cerebral / meningeal hemorrhage
- Transient cerebral ischemia / stroke

Frequent
- Obnubilation / coma / lethargia / desorientation
- Psychic / psychomotor regression / dementia / intellectual decline