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Carpenter-Waziri syndrome
1 OMIM reference -
1 associated gene
No signs/symptoms info
COMMON GENES: 1
Alpha-thalassemia - X-linked intellectual deficit syndrome
1 OMIM reference -
1 associated gene
55 signs/symptoms
Carpenter-Waziri syndrome
Alpha-thalassemia - X-linked intellectual deficit syndrome

ATRX
(UniProt - OMIM)
 ATRX
(UniProt - OMIM)

COMMON
GENES 		ATRX


Citations in the biomedical literature:


Carpenter-Waziri syndrome
ATRX
Alpha-thalassemia - X-linked intellectual deficit syndrome



Carpenter-Waziri syndrome
Alpha-thalassemia - X-linked intellectual deficit syndrome

Synonym(s):
(no synonyms)

Synonym(s):
- ATR-X syndrome
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare neurologic disease
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):
(no data available)
Classification (ICD10):
- Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism -
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: x-linked recessive
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
External references:
1 OMIM reference -
No MeSH references
Alpha-thalassemia - X-linked intellectual deficit syndrome

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


Carpenter-Waziri syndrome

(no data available)