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Oculocerebral hypopigmentation syndrome of Preus

MedGen UID:
419131
Concept ID:
C2931646
Disease or Syndrome
Synonyms: Oculocerebral Hypopigmentation Syndrome of Preus; Oculocerebral hypopigmentation syndrome type Preus
SNOMED CT: Oculocerebral hypopigmentation syndrome of Preus type (716174001); Oculocerebral hypopigmentation syndrome of Preus (716174001)
 
Monarch Initiative: MONDO:0009766
OMIM®: 257790
Orphanet: ORPHA2720

Definition

A rare congenital syndrome characterized by skin and hair hypopigmentation, growth retardation, and intellectual deficit that are associated with a combination of various additional clinical anomalies such as ocular albinism, cataract, delayed neuropsychomotor development, sensorineural hearing loss, dolicocephaly, high arched palate, widely spaced teeth, anemia, and/or nystagmus. [from SNOMEDCT_US]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVOculocerebral hypopigmentation syndrome of Preus

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