ODCs

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1 OMIM reference -
1 associated gene
27 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 1

7 OMIM references -
6 associated genes
10 signs/symptoms

Autosomal dominant Larsen syndrome

Aicardi-GoutiÃ¨res syndrome


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	FLNB	(0.63)	SAMHD1

Citations in the biomedical literature:

Autosomal dominant Larsen syndrome		Aicardi-GoutiÃ¨res syndrome
	Synonym(s): (no synonyms)		Synonym(s): - Encephalopathy with basal ganglia calcification - Encephalopathy with intracranial calcification and chronic lymphocytosis of cerebrospinal fluid

	Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare genetic disease - Rare maxillo-facial surgical disease - Rare otorhinolaryngologic disease		Classification (Orphanet): - Rare genetic disease - Rare neurologic disease

	Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -		Classification (ICD10): - Diseases of the nervous system -

	Epidemiological data: Class of prevalence: 1-9 / 1 000 000 Average age onset: neonatal/infancy Average age of death: normal Type of inheritance: autosomal dominant		Epidemiological data: Class of prevalence: unknown Average age onset: neonatal/infancy Average age of death: child / adolescent Type of inheritance: autosomal dominant

	External references: 1 OMIM reference - No MeSH references		External references: 7 OMIM references - 1 MeSH reference: C535607


COMMON SIGNS	- Intellectual deficit / mental / psychomotor retardation / learning disability

Autosomal dominant Larsen syndrome		Aicardi-GoutiÃ¨res syndrome
	Very frequent - Absent / small fingernails / anonychia of hands - Autosomal dominant inheritance - Autosomal recessive inheritance - Broad / bifid thumb - Depressed nasal bridge - Depressed premaxillary region / midface - Flat face - Frontal bossing / prominent forehead - Hyperextensible joints / articular hyperlaxity - Hypertelorism - Joint dislocation / subluxation - Long hand / arachnodactyly - Short hand / brachydactyly Frequent - Wrist / carpal anomalies Occasional - Cleft palate without cleft lip / submucosal cleft palate / bifid uvula - Conductive deafness / hearing loss - Craniostenosis / craniosynostosis / sutural synostosis - Epiphyseal anomaly - Laryngomalacia - Respiratory distress / dyspnea / respiratory failure / lung volume reduction - Scoliosis - Short stature / dwarfism / nanism - Structural anomalies of the cardio-circulatory system - Syndactyly of fingers / interdigital palm - Undescended / ectopic testes / cryptorchidia / unfixed testes - Vertebral segmentation anomaly / hemivertebrae		Very frequent - Holoprosencephaly / arhinencephaly / unique lateral ventricle - Hypertonia / spasticity / rigidity / stiffness - Porencephaly Frequent - Coloboma of the eyelid - Hemiplegia / diplegia / hemiparesia / limb palsy Occasional - Microcephaly - Plagiocephaly - Ptosis - Seizures / epilepsy / absences / spasms / status epilepticus