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Neurologic Waardenburg-Shah syndrome

1 OMIM reference -
1 associated gene
31 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 1

Agnathia - holoprosencephaly - situs inversus

1 OMIM reference -
2 associated genes
20 signs/symptoms

Neurologic Waardenburg-Shah syndrome

Agnathia - holoprosencephaly - situs inversus

SOX10	(UniProt - OMIM)		OTX2	(UniProt - OMIM)
			PRRX1	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	SOX10	(0.63)	PRRX1

Citations in the biomedical literature:

Neurologic Waardenburg-Shah syndrome		Agnathia - holoprosencephaly - situs inversus
	Synonym(s): - PCWH - Peripheral demyelinating neuropathy - central dysmyelinating leukodystrophy - Waardenburg syndrome - Hirschsprung disease - WS4 plus		Synonym(s): (no synonyms)

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

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

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

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


COMMON SIGNS	- Anomalies of eyelids, eyelashes and lacrimal system

Neurologic Waardenburg-Shah syndrome		Agnathia - holoprosencephaly - situs inversus
	Very frequent - Acute abdominal pain / colic - Ataxia / incoordination / trouble of the equilibrium - Constipation - Dolichocolon / megacolon / megadolichocolon / Hirschsprung's disease - Heterochromia / mixed colouring of iris - Hypertonia / spasticity / rigidity / stiffness - Hypotonia - Intellectual deficit / mental / psychomotor retardation / learning disability - Intestinal obstruction / ileus - Irregular / patchy skin hypopigmentation - Nystagmus - Peripheral neuropathy - Pyramidal syndrome - Seizures / epilepsy / absences / spasms / status epilepticus - Sensorineural deafness / hearing loss Frequent - Broad nose / nasal bridge - Colonic atresia / stenosis / absence / agenesis / hypoplasia / microcolon - Decreased hair pigmentation / hypopigmentation of hair - Eyebrows anomalies - High nasal bridge - Late puberty / hypogonadism / hypogenitalism - Premature greying of hair - Thin / hypoplastic ala nasi Occasional - Arthrogryposis - Cardiac rhythm disorder / arrhythmia - Hepatomegaly / liver enlargement (excluding storage disease) - Hypohidrosis / decreased sweating / thermoregulation disorder / heat intolerance - Salivary gland neoplasm / tumor / carcinoma / cancer - Splenomegaly - Telecanthus / canthal dystopy		Very frequent - Absent / decreased / thin eyebrows - Cerebellum / cerebellar vermis anomaly / agenesis / hypoplasia - Corpus callosum / septum pellucidum total / partial agenesis - Cranial nerve anomalies - Cyclopia - Holoprosencephaly / arhinencephaly / unique lateral ventricle - Hypoplastic mandibula / partial absence of the mandibula - Low set ears / posteriorly rotated ears - Microglossia / aglossia / hypoglossia / tongue hypoplasia - Micropenis / small penis / agenesis - Microstomia / little mouth - Microtia / cryptomicrotia / anotia / external auditory canal / pinnae aplasia / hypoplasia - Nasal atrophy / hypoplasia / arhinia / rudimentary nose - Polyhydramnios - Respiratory distress / dyspnea / respiratory failure / lung volume reduction - Single nare / abouphalia - Situs inversus visceralis / colon / intestine trasposition / heterotaxia - Stillbirth / neonatal death - Synotia