Synonym(s): - X-linked Angelman-like syndrome - X-linked intellectual deficit - craniofacial dysmorphism - epilepsy - ophthalmoplegia - cerebellar atrophy - X-linked intellectual deficit, South African type
Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare genetic disease - Rare neurologic disease Entire classification		Classification (ICD10): (no data available)
Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: neonatal/infancy Average age of death: young adult Type of inheritance: x-linked dominant		External references: 1 OMIM reference - See 1 MeSH reference: C537450
More Info - Orphanet

Gene symbol	UniProt reference	OMIM reference
SLC9A6	Q92581	300231

- Ataxia / incoordination / trouble of the equilibrium
- Cerebellum / cerebellar vermis anomaly / agenesis / hypoplasia
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Long face
- Long / large ear
- Long / large / bulbous nose
- Midbrain / brainstem / pons / medulla anomalies
- Narrow face
- Seizures / epilepsy / absences / spasms / status epilepticus
- Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia
- Strabismus / squint
- Thick / bushy eyebrows
- Wasted (excluding lipodystrophy) / poorly muscled build / cachexy
- X-linked dominant inheritance

- Abnormal gait
- Anomalies of chest / thorax / trunk
- Autism / autistic disoders
- Clasp thumb / thumb adduction / distal thumb phalangeal bone deviated / large
- Corpus callosum / septum pellucidum total / partial agenesis
- Cortical atrophy without hydrocephaly / cerebral hemiatrophy / subcortical atrophy
- Dilated cerebral ventricles without hydrocephaly
- Dystonia / torticollis / writer's cramp / blepharospasms
- Feeding disorder / dysphagia / swallowing / sucking disorder / esophageal dyskinesia
- Gastroesophageal reflux / pyrosis / esophagitis / hiatal hernia / gastroparesia
- Microcephaly
- Movement disorder
- Nystagmus
- Ophthalmoplegia / ophthalmoparesis / oculomotor palsy
- Pectus excavatum
- Psychic / behavioural troubles

- Anomalies of nose and olfaction
- Arthrogryposis
- Deepset eyes / enophthalmos
- Early death / lethality
- Hyperextensible joints / articular hyperlaxity
- Muscle hypotrophy / atrophy / dystrophy / agenesis / amyotrophy
- Prognathism / prognathia