ODCs

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X-linked dominant chondrodysplasia, Chassaing-Lacombe type

1 OMIM reference -
1 associated gene
26 signs/symptoms

PROTEIN INTERACTIONS: 1

Perry syndrome

1 OMIM reference -
1 associated gene
14 signs/symptoms

X-linked dominant chondrodysplasia, Chassaing-Lacombe type

Perry syndrome

HDAC6

(UniProt - OMIM)

DCTN1

(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	HDAC6	(0.52)	DCTN1

Citations in the biomedical literature:

X-linked dominant chondrodysplasia, Chassaing-Lacombe type		Perry syndrome
	Synonym(s): - X-linked dominant chondrodysplasia - hydrocephaly - microphthalmia		Synonym(s): - Parkinsonism with alveolar hypoventilation and mental depression

	Classification (Orphanet): - Rare genetic disease - Rare neurologic disease		Classification (Orphanet): - 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: - Type of inheritance: x-linked dominant		Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: adulthood Average age of death: - Type of inheritance: autosomal dominant

	External references: 1 OMIM reference - No MeSH references		External references: 1 OMIM reference - No MeSH references

X-linked dominant chondrodysplasia, Chassaing-Lacombe type		Perry syndrome
	Very frequent - Anophthalmos / anophthalmia / microphthalmos / microphthalmia - Dysostosis / chondrodysplasia / osteodysplasia / osteochondrosis / skeletal dysplasia - Flattened nose - Frontal bossing / prominent forehead - Hydrocephaly - Low set ears / posteriorly rotated ears - Metacarpal anomalies / Archibald's sign - Pelvis anomaly / Narrow / broad iliac wings / pubis abnormality - Platyspondyly - Rhizomelic micromelia - Short foot / brachydactyly of toes - Short hand / brachydactyly - Short stature / dwarfism / nanism - Short / small nose - X-linked dominant inheritance Frequent - Ankle anomalies - Asymmetry of the body / hemiatrophy / hemihyperthrophy - Death in infancy - Intellectual deficit / mental / psychomotor retardation / learning disability - Intrauterine growth retardation - Rib structure anomalies Occasional - Cerebellum / cerebellar vermis anomaly / agenesis / hypoplasia - Hyperkeratosis / ainhum / hyperkeratotic skin fissures - Macrostomia / big mouth - Micrognathia / retrognathia / micrognathism / retrognathism - Short philtrum		Very frequent - Autosomal dominant inheritance - Execution movement disorder / dysmetria / bradykinesia / akinesia / apraxia - Extrapyramidal syndrome - Humour troubles / anxiety / depression / apathy / euphoria / irritability - Respiratory distress / dyspnea / respiratory failure / lung volume reduction - Sleep and vigilance disorders - Tremor - Weight loss / loss of appetite / break in weight curve / general health alteration Occasional - Delirium / hallucination - Early death / lethality - Hypotension - Psychic / behavioural troubles - Psychic / psychomotor regression / dementia / intellectual decline - Psychosis / schizophrenia / maniac disorder