Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Mental retardation, truncal obesity, retinal dystrophy and micropenis

MORM syndrome is an autosomal recessive disorder related to Joubert syndrome 1. It is caused by mutations of the same gene, INPP5E.

Systematic

Ciliopathy
Acrocallosal syndrome
COACH syndrome
Cranioectodermal dysplasia
Joubert syndrome
Leber congenital amaurosis
Left-right axis malformations
Meckel syndrome
Mental retardation, truncal obesity, retinal dystrophy and micropenis
INPP5E
Nephronophthisis
Orofaciodigital syndrome
Primary ciliary dyskinesia 3 with or without situs inversus
Retinitis pigmentosa
Senior-Loken syndrome
Short-rib thoracic dysplasia with or without polydactyly
Simpson-Golabi-Behmel syndrome

References:

1.

Jacoby M et. al. (2009) INPP5E mutations cause primary cilium signaling defects, ciliary instability and ciliopathies in human and mouse.

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2.

Hampshire DJ et. al. (2006) MORM syndrome (mental retardation, truncal obesity, retinal dystrophy and micropenis), a new autosomal recessive disorder, links to 9q34.

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Update: Oct. 11, 2018