Skip to main content

Table 1 OMIM genes deleted in our patient, with related phenotypes and model of inheritance

From: Neurological features of 14q24-q32 interstitial deletion: report of a new case

Gene OMIM Phenotype Inheritance
DNAL1 610062 Ciliary dyskinesia, primary, 16 AR
ALDH6A1 603178 Methylmalonate semialdehyde dehydrogenase deficiency AR
VSX2 142993 Microphthalmia with coloboma; AR
Microphthalmia, isolated 2
LTBP2 602091 Glaucoma 3, primary congenital, D; AR
Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma;
Weill-Marchesani syndrome 3, recessive
EIF2B2 606454 Leukoencephalopathy with vanishing white matter; AR
Ovarioleukodystrophy
MLH3 604395 Colorectal cancer, hereditary nonpolyposis, type 7; AD
Colorectal cancer, somatic
FLVCR2 610865 Proliferative vasculopathy and hydraencephaly-hydrocephaly syndrome AR
TGFB3 190230 Rienhoff syndrome; AD
Arrhythmogenic right ventricular dysplasia 1
IFT43 614068 Cranioectodermal dysplasia 3 AR
ESRRB 602167 Deafness, autosomal recessive 35 AR
POMT2 607439 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2; AR
Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 2;
Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 2
VIPAS39 613401 Arthrogryposis, renal dysfunction, and cholestasis 2 AR
SPTLC2 605713 Neuropathy, hereditary sensory and autonomic, type IC AD
NPC2 601015 Niemann-Pick disease, type C2 AR
  1. List of abbreviations: AD autosomal dominant, AR autosomal recessive