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KLHL7-related Bohring-Opitz-like syndrome

MedGen UID:
1842955
Concept ID:
C5680210
Disease or Syndrome
Synonym: KLHL7-related BOS-like syndrome
 
Monarch Initiative: MONDO:0035823
Orphanet: ORPHA603689

Definition

A rare multiple congenital anomalies syndrome characterized by several of the typical clinical features of Bohring-Opitz syndrome, like intrauterine growth retardation, facial dysmorphism, microcephaly, severe feeding difficulties, joint contractures, intellectual disability and a BOS-like posture of upper limbs. Trigonocephaly, synophrys, high myopia and cyclic emesis are, on the contrary, very rarely described. [from ORPHANET]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVKLHL7-related Bohring-Opitz-like syndrome

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