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X-linked intellectual deficit, Golabi-Ito-Hall type

1 associated gene
16 signs/symptoms

COMMON GENES: 1
COMMON SIGNS: 6

Hamel cerebro-palato-cardiac syndrome

1 associated gene
11 signs/symptoms

X-linked intellectual deficit, Golabi-Ito-Hall type

Hamel cerebro-palato-cardiac syndrome

PQBP1

(UniProt - OMIM)

(UniProt - OMIM)


COMMON GENES	PQBP1

Citations in the biomedical literature:

X-linked intellectual deficit, Golabi-Ito-Hall type		Hamel cerebro-palato-cardiac syndrome

	Classification (Orphanet): - Rare abdominal surgical disease - Rare developmental defect during embryogenesis - Rare genetic disease - Rare neurologic disease		Classification (Orphanet): - Rare abdominal surgical disease - Rare developmental defect during embryogenesis - Rare genetic disease - Rare neurologic disease

	Classification (ICD10): (no data available)		Classification (ICD10): (no data available)

	Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: neonatal/infancy Average age of death: normal Type of inheritance: x-linked recessive		Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: neonatal/infancy Average age of death: normal Type of inheritance: x-linked recessive

	External references: No OMIM references No MeSH references		External references: No OMIM references No MeSH references


COMMON SIGNS	- Atrial septal defect / interauricular communication - External ear anomalies - Intellectual deficit / mental / psychomotor retardation / learning disability - Microcephaly - Short stature / dwarfism / nanism - X-linked recessive inheritance

X-linked intellectual deficit, Golabi-Ito-Hall type		Hamel cerebro-palato-cardiac syndrome
	Very frequent - Failure to thrive / difficulties for feeding in infancy / growth delay - Long face - Narrow face - Triangular face - Upslanted palpebral fissures / mongoloid slanting palpebral fissures Frequent - Brittle hair / distrix / trichorrhexis - Epicanthic folds - Hemiplegia / diplegia / hemiparesia / limb palsy - Hypertonia / spasticity / rigidity / stiffness Occasional - Seizures / epilepsy / absences / spasms / status epilepticus		Very frequent - Cleft palate without cleft lip / submucosal cleft palate / bifid uvula - Death in infancy - Long / large / bulbous nose - Micrognathia / retrognathia / micrognathism / retrognathism - Microstomia / little mouth