ODCs

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X-linked intellectual deficit with marfanoid habitus

2 OMIM references -
3 associated genes
33 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 1

ChÃ©diak-Higashi syndrome

1 OMIM reference -
1 associated gene
40 signs/symptoms

X-linked intellectual deficit with marfanoid habitus

ChÃ©diak-Higashi syndrome

MED12	(UniProt - OMIM)	LYST	(UniProt - OMIM)
UPF3B	(UniProt - OMIM)
ZDHHC9	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	MED12	(0.65)	LYST

Citations in the biomedical literature:

X-linked intellectual deficit with marfanoid habitus		ChÃ©diak-Higashi syndrome
	Synonym(s): - Lujan syndrome - Lujan-Fryns syndrome - X-linked mental retardation with marfanoid habitus - XLMR with marfanoid habitus		Synonym(s): - ChÃ©diak-Higashi disease - ChÃ©diak-Higashi-Steinbrink syndrome

	Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare genetic disease - Rare neurologic disease		Classification (Orphanet): - Inborn errors of metabolism - Rare eye disease - Rare genetic disease - Rare hematologic disease - Rare immune disease - Rare neurologic disease - Rare skin disease

	Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -		Classification (ICD10): - Endocrine, nutritional and metabolic diseases -

	Epidemiological data: Class of prevalence: unknown Average age onset: neonatal/infancy Average age of death: - Type of inheritance: x-linked recessive		Epidemiological data: Class of prevalence: unknown Average age onset: childhood Average age of death: - Type of inheritance: autosomal recessive

	External references: 2 OMIM references - No MeSH references		External references: 1 OMIM reference - 1 MeSH reference: D002609


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

X-linked intellectual deficit with marfanoid habitus		ChÃ©diak-Higashi syndrome
	Very frequent - Abnormal cry / voice / phonation disorder / nasal speech - High forehead - High vaulted / narrow palate - Hypotonia - Macrocephaly / macrocrania / megalocephaly / megacephaly - Marfanoid morphotype - Micrognathia / retrognathia / micrognathism / retrognathism - Psychic / behavioural troubles - Scoliosis - Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia - Tall stature / gigantism / growth acceleration - X-linked recessive inheritance Frequent - Atrial septal defect / interauricular communication - Corpus callosum / septum pellucidum total / partial agenesis - Flat cheek bones / malar hypoplasia - High nasal bridge - Hyperactivity / attention deficit - Hyperextensible joints / articular hyperlaxity - Long hand / arachnodactyly - Macroorchidism / macrotestes - Narrow face - Pectus excavatum - Short philtrum Occasional - Abnormal dentition / dental position / implantation / unerupted / dental ankylosis - Brachycephaly / flat occiput - Camptodactyly of some fingers - Delirium / hallucination - Low set ears / posteriorly rotated ears - Prominent / bat ears - Psychosis / schizophrenia / maniac disorder - Seizures / epilepsy / absences / spasms / status epilepticus - Short hand / brachydactyly		Very frequent - Albinism (hair) - Alveolysis / paraodontitis - Anaemia - Areflexia / hyporeflexia - Autosomal recessive inheritance - Bone marrow / medullar infiltration - Bruisability - Chronic skin infection / ulcerations / ulcers / cancrum - Decreased hair pigmentation / hypopigmentation of hair - Diffuse / generalised skin hypopigmentation / cutaneous albinism - Fever / chilling - Furuncle / cutaneous abscess / hidrosadenitis suppurativa - Gingivorrhagia / gingival bleeding - Hepatomegaly / liver enlargement (excluding storage disease) - Immunodeficiency / increased susceptibility to infections / recurrent infections - Iris albinism / ocular albinism - Lymphadenopathy / polyadenopathies - Paresthesia / dysesthesia / hypoesthesia / anesthesia / numbness - Peripheral neuropathy - Polynuclear cells / neutrophils anomalies / neutropenia - Repeat respiratory infections - Splenomegaly - Thrombocytopenia / thrombopenia Frequent - Ecchymoses - Epistaxis / nose bleeding - Nystagmus - Photophobia - Tremor - Visual loss / blindness / amblyopia Occasional - Cerebellum / cerebellar vermis anomaly / agenesis / hypoplasia - Diffuse / generalised skin hyperpigmentation / melanoderma - Early death / lethality - Execution movement disorder / dysmetria / bradykinesia / akinesia / apraxia - Extrapyramidal syndrome - Gastrointestinal bleeding / hemorrhage / hematemesis / melena / rectorrhagia - Hepatitis / icterus / cholestasis - Hypertonia / spasticity / rigidity / stiffness - Movement disorder - Psychic / psychomotor regression / dementia / intellectual decline