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Zellweger-like syndrome without peroxisomal anomalies

^ http://purl.obolibrary.org/obo/MONDO_0018861

An extremely rare mitochondrial disorder characterized by facial dysmorphism similar to that seen in Zellweger syndrome, such as frontal bossing, high forehead, upslanting palpebral fissures, hypoplastic supraorbital ridges, and epicanthal folds, and in addition, pale skin, profound hypotonia, developmental delay, and minor metabolic anomalies. No peroxysomal defects, however, have been reported. Transmission is thought to be autosomal recessive. [ Orphanet:50812 ]

Term info

database cross reference
  • UMLS:CN205183 (MONDO:equivalentTo)
  • SCTID:718880003 (MONDO:equivalentTo)
  • Orphanet:50812 (MONDO:equivalentTo)
  • UMLS:C4305104 (MONDO:equivalentTo)
Subsets

ordo_disease

definition

An extremely rare mitochondrial disorder characterized by facial dysmorphism similar to that seen in Zellweger syndrome, such as frontal bossing, high forehead, upslanting palpebral fissures, hypoplastic supraorbital ridges, and epicanthal folds, and in addition, pale skin, profound hypotonia, developmental delay, and minor metabolic anomalies. No peroxysomal defects, however, have been reported. Transmission is thought to be autosomal recessive.

exactMatch

http://identifiers.org/snomedct/718880003, http://purl.obolibrary.org/obo/Orphanet_50812, http://linkedlifedata.com/resource/umls/id/C4305104, http://linkedlifedata.com/resource/umls/id/CN205183

has exact synonym

AHN-Lerman-Sagie syndrome

id

MONDO:0018861