ODCs

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Sheldon-Hall syndrome

1 OMIM reference -
4 associated genes
21 signs/symptoms

PROTEIN INTERACTIONS: 2
COMMON SIGNS: 4

Developmental malformations - deafness - dystonia

1 OMIM reference -
1 associated gene
22 signs/symptoms

Sheldon-Hall syndrome

Developmental malformations - deafness - dystonia

MYH3	(UniProt - OMIM)	ACTB	(UniProt - OMIM)
TNNI2	(UniProt - OMIM)
TNNT3	(UniProt - OMIM)
TPM2	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	TNNI2 TPM2	(0.52) (0.52)	ACTB ACTB

Citations in the biomedical literature:

Sheldon-Hall syndrome		Developmental malformations - deafness - dystonia
	Synonym(s): - Distal Arthrogryposis type 2B - Freeman-Sheldon syndrome variant		Synonym(s): (no synonyms)

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

	Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -		Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -

	Epidemiological data: Class of prevalence: unknown Average age onset: neonatal/infancy Average age of death: normal Type of inheritance: autosomal dominant		Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: childhood Average age of death: - Type of inheritance: unknown

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


COMMON SIGNS	- Autosomal dominant inheritance - Hip dislocation / dysplasia / coxa valga / coxa vara / coxa plana - Scoliosis - Short stature / dwarfism / nanism

Sheldon-Hall syndrome		Developmental malformations - deafness - dystonia
	Very frequent - Clasp thumb / thumb adduction / distal thumb phalangeal bone deviated / large - Radius anomaly / absence / agenesis / hypoplasia / abnormal radial ray - Restricted joint mobility / joint stiffness / ankylosis - Simian crease / transverse / unique palmar crease - Webbed neck / pterygium colli Frequent - Clinodactyly of fingers 1,2,3,4 / overlapping fingers - High vaulted / narrow palate - Long / large / bulbous nose - Micrognathia / retrognathia / micrognathism / retrognathism - Narrow face - Prominent / bat ears - Round ear - Short neck - Tarsal anomaly / fusion / synostosis - Ulnar deviation of fingers - Vertebral segmentation anomaly / hemivertebrae - Wrist / carpal anomalies		Very frequent - Cleft lip and palate - Dystonia / torticollis / writer's cramp / blepharospasms - Early death in adulthood - Feeding disorder / dysphagia / swallowing / sucking disorder / esophageal dyskinesia - Functional colopathy / irritable bowel syndrome - High forehead - Hypertelorism - Immunodeficiency / increased susceptibility to infections / recurrent infections - Intellectual deficit / mental / psychomotor retardation / learning disability - Kyphosis - Macroglossia / tongue protrusion / proeminent / hypertrophic - Megaesophagus / cardiospasm / congenital dilation of the esophagus / achalasia - Psychic / psychomotor regression / dementia / intellectual decline - Scapula structural / position anomaly / congenital elevation / Sprengel anomaly - Sensorineural deafness / hearing loss - Short limbs / micromelia / brachymelia Frequent - Cataract / lens opacification - Visual loss / blindness / amblyopia