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Alpha-thalassemia - X-linked intellectual deficit syndrome
1 OMIM reference -
1 associated gene
32 connected diseases
55 signs/symptoms
Disease Type of connection
Alpha-thalassemia - myelodysplastic syndrome
Carpenter-Waziri syndrome
Chudley-Lowry-Hoar syndrome
Holmes-Gang syndrome
Juberg-Marsidi syndrome
Smith-Fineman-Myers syndrome
Hereditary breast and ovarian cancer syndrome
Cornelia de Lange syndrome
Familial congenital mirror movements
Weaver syndrome
Ataxia-telangiectasia-like disorder
Nijmegen breakage syndrome-like disorder
Familial prostate cancer
Nijmegen breakage syndrome
Bloom syndrome
Acute promyelocytic leukemia
2q37 microdeletion syndrome
Adrenocortical carcinoma
B-cell chronic lymphocytic leukemia
Essential thrombocythemia
Familial pancreatic carcinoma
Giant cell glioblastoma
Gliosarcoma
Li-Fraumeni syndrome
Monomelic amyotrophy
Papilloma of choroid plexus
Precursor B-cell acute lymphoblastic leukemia
Severe combined immunodeficiency due to DNA-PKcs deficiency
Short rib-polydactyly syndrome, Majewski type
Werner syndrome
Catecholaminergic polymorphic ventricular tachycardia
Dentatorubral pallidoluysian atrophy
Synonym(s):
- ATR-X syndrome
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare endocrine disease
- Rare genetic disease
- Rare gynecologic or obstetric disease
- Rare hematologic disease
- Rare neurologic disease
- Rare urogenital disease
Classification (ICD10):
- Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism -
Epidemiological data:
Class of prevalence: unknown
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: x-linked recessive
External references:
1 OMIM reference -
No MeSH references
Gene symbol UniProt reference OMIM reference
ATRX P46100300032
Very frequent
- Ambiguous genitalia
- Face / facial anomalies
- Flat face
- Gastroesophageal reflux / pyrosis / esophagitis / hiatal hernia / gastroparesia
- Hypertelorism
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Large fontanelle / delayed fontanelle closure
- Male pseudohermaphrodism / lack of virilisation
- Microcephaly
- Psychic / behavioural troubles
- Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia
- Structural anomalies of the genital system
- Undescended / ectopic testes / cryptorchidia / unfixed testes
- X-linked recessive inheritance

Frequent
- Anteverted nares / nostrils
- Autism / autistic disoders
- Epicanthic folds
- Everted lower lip
- Flattened nose
- Hemoglobinosis / hemoglobinopathy
- Hypotonia
- Macroglossia / tongue protrusion / proeminent / hypertrophic
- Micropenis / small penis / agenesis
- Mid-facial hypoplasia / short / small midface
- Seizures / epilepsy / absences / spasms / status epilepticus
- Short stature / dwarfism / nanism
- Talipes-varus / metatarsal varus
- Telecanthus / canthal dystopy
- Thick lips

Occasional
- Anaemia
- Anomalies of teeth and dentition
- Auto-aggressivity / auto-mutilation
- Clinodactyly of fifth finger
- Colonic / intestinal volvulus
- Constipation
- Contractures / cramps / trismus / tetania / claudication / opisthotonos
- Corpus callosum / septum pellucidum total / partial agenesis
- Cortical atrophy without hydrocephaly / cerebral hemiatrophy / subcortical atrophy
- Death in infancy
- Dolichocolon / megacolon / megadolichocolon / Hirschsprung's disease
- Encephalitis
- Feeding disorder / dysphagia / swallowing / sucking disorder / esophageal dyskinesia
- Hemiplegia / diplegia / hemiparesia / limb palsy
- Humour troubles / anxiety / depression / apathy / euphoria / irritability
- Megaureter / hydronephrosis / pyeloureteral junction syndrome
- Movement disorder
- Myopia
- Nausea / vomiting / regurgitation / merycism / hyperemesis
- Optic nerve anomaly / optic atrophy / anomaly of the papilla
- Recurrent urinary infections
- Renal / kidney anomalies
- Restricted joint mobility / joint stiffness / ankylosis
- Sensorineural deafness / hearing loss
- Short hand / brachydactyly
- Visual loss / blindness / amblyopia