Additional Disease Briefs

Senior-Loken syndrome 6

Also known as: CEP290 Senior-Loken syndrome, SENIOR-Loken syndrome 6, SLSN6, Senior-Loken syndrome 6, Senior-Loken syndrome caused by mutation in CEP290, Senior-Loken syndrome type 6

Senior-Loken syndrome 7

Also known as: SDCCAG8 Senior-Loken syndrome, SENIOR-Loken syndrome 7, SLSN7, Senior-Loken syndrome 7, Senior-Loken syndrome caused by mutation in SDCCAG8, Senior-Loken syndrome type 7

Senior-Loken syndrome 8

Also known as: SENIOR-Loken syndrome 8, SLSN8, Senior-Loken syndrome 8, Senior-Loken syndrome caused by mutation in WDR19, Senior-Loken syndrome type 8, WDR19 Senior-Loken syndrome

Senior-Loken syndrome 9

Also known as: SLSN9, Senior-Loken syndrome 9, Senior-Loken syndrome 9; SLSN9, Senior-Loken syndrome caused by mutation in TRAF3IP1, Senior-Loken syndrome type 9, TRAF3IP1 Senior-Loken syndrome

sensorineural hearing loss-early graying-essential tremor syndrome

sensory ataxic neuropathy, dysarthria, and ophthalmoparesis

Also known as: EPM5, PME type 5, PRICKLE2 progressive myoclonic epilepsy, SANDO, epilepsy, progressive myoclonic, 5, epilepsy, progressive myoclonic, 5, formerly, epilepsy, progressive myoclonic, type 5, epilepsy, progressive myoclonic, with sensory ataxic neuropathy, mitochondrial recessive ataxia syndrome (includes SANDO and SCAE), progressive myoclonic epilepsy caused by mutation in PRICKLE2, progressive myoclonus epilepsy type 5, sensory ataxic neuropathy with mitochondrial DNA deletions, autosomal recessive, sensory ataxic neuropathy, dysarthria, and ophthalmoparesis, sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome, spinocerebellar ataxia with epilepsy

septate uterus

septooptic dysplasia

Also known as: De Morsier syndrome, Growth hormone deficiency with pituitary anomalies, SOD, hypopituitarism and septooptic 'dysplasia', pituitary hormone deficiency, combined, 5, septo-optic dysplasia, septo-optic dysplasia sequence, septo-optic dysplasia spectrum, septo-optic dysplasia with growth hormone deficiency, septooptic dysplasia

serine biosynthesis pathway deficiency, infantile/juvenile form