ODCs

Click node...

Micro syndrome

4 OMIM references -
4 associated genes
39 signs/symptoms

COMMON GENES: 2
PROTEIN INTERACTIONS: 1
COMMON SIGNS: 13

Cataract - intellectual deficit - hypogonadism

1 OMIM reference -
2 associated genes
31 signs/symptoms

Micro syndrome

Cataract - intellectual deficit - hypogonadism

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


COMMON GENES	RAB3GAP1 RAB3GAP2


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	RAB3GAP1	(0.76)	RAB3GAP2

Citations in the biomedical literature:

Micro syndrome		Cataract - intellectual deficit - hypogonadism
	Synonym(s): - WARBM - Warburg micro syndrome		Synonym(s): - Martsolf syndrome

	Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare eye disease - Rare genetic disease - Rare neurologic disease		Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare endocrine disease - Rare eye disease - Rare genetic disease - Rare gynecologic or obstetric disease - Rare infertility - Rare neurologic disease

	Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -		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		Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: neonatal/infancy Average age of death: - Type of inheritance: autosomal recessive

	External references: 4 OMIM references - No MeSH references		External references: 1 OMIM reference - No MeSH references


COMMON SIGNS	- Autosomal recessive inheritance - Cataract / lens opacification - Cortical atrophy without hydrocephaly / cerebral hemiatrophy / subcortical atrophy - High vaulted / narrow palate - Intellectual deficit / mental / psychomotor retardation / learning disability - Late puberty / hypogonadism / hypogenitalism - Low set ears / posteriorly rotated ears - Microcephaly - Micrognathia / retrognathia / micrognathism / retrognathism - Scoliosis - Short philtrum - Short stature / dwarfism / nanism - Undescended / ectopic testes / cryptorchidia / unfixed testes

Micro syndrome		Cataract - intellectual deficit - hypogonadism
	Very frequent - Agyria / micro / pachy / macrogyria / lissencephaly / gyration / neuronal migration defect - Anophthalmos / anophthalmia / microphthalmos / microphthalmia - Anteverted nares / nostrils - Broad nasal root - Corpus callosum / septum pellucidum total / partial agenesis - Hypertonia / spasticity / rigidity / stiffness - Hypotonia - Microcornea - Optic nerve anomaly / optic atrophy / anomaly of the papilla - Restricted joint mobility / joint stiffness / ankylosis - Short / small nose - Visual loss / blindness / amblyopia Frequent - Abnormal VEP / Visual evoked potential - Clitoris / labia majora / labia minora / female external genitalia hypoplasia - Hirsutism / hypertrichosis / Increased body hair - Intrauterine growth retardation - Kyphosis - Long / large ear - Micropenis / small penis / agenesis - Retinitis pigmentosa / retinal pigmentary changes 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		Very frequent - Abnormal dermatoglyphics - Everted lower lip - Failure to thrive / difficulties for feeding in infancy / growth delay - Fissured / scrotal tongue - Flat cheek bones / malar hypoplasia - Low hair line (back) - Mid-facial hypoplasia / short / small midface - Premature ageing Frequent - Abnormal dentition / dental position / implantation / unerupted / dental ankylosis - Abnormal toenails - Anomalies of hands - Brachycephaly / flat occiput - Depressed nasal bridge - Hypotelorism - Lordosis - Terminal / third phalangeal bone of fingers broadened / deviated - Ulnar deviation of fingers Occasional - Antihelix anomaly