Klinische FragestellungFibrose der äußeren Augenmuskeln, kongenitale; Differentialdiagnose

NGS +

Störung der Nerven/des Nervensystems, die/das den Gebrauch der Muskeln, die die Augen umgeben, beeinträchtigt/-en

• Alias: Blepharoptosis with absent eye movements
• Alias: Congenital fibrosis of extraocular muscles
• Alias: Ophthalmoplegia, congenital
• Allelic: Corneal dystrophy, posterior polymorphous, 4 (GRHL2)
• Allelic: Deafness, AD 28 (GRHL2)
• Allelic: Mitochondrial DNA depletion syndr. 8A, encephalomyopathic type + renal tubulopathy (RRM2B)
• Allelic: Mitochondrial DNA depletion syndrome 12A, cardiomyopathic type, AD (SLC25A4)
• Allelic: Mitochondrial DNA depletion syndrome 12B, cardiomyopathic type, AR (SLC25A4)
• Allelic: Mitochondrial DNA depletion syndrome 4A, Alpers type (POLG)
• Allelic: Mitochondrial DNA depletion syndrome 4B, MNGIE type (POLG)
• Allelic: Mitochondrial DNA depletion syndrome 7, hepatocerebral type (TWNK)
• Allelic: Mitochondrial DNA depletion syndrome 8B, MNGIE type (RRM2B)
• Allelic: Mitochondrial recessive ataxia syndrome, includes SANDO + SCAE (POLG)
• Allelic: Multicentric carpotarsal osteolysis syndrome (MAFB)
• Allelic: Perrault syndrome 5 (TWNK)
• Allelic: Rod-cone dystrophy, sensorineural deafness, + Fanconi-type renal dysfunction (RRM2B)
• Athabaskan brainstem dysgenesis syndrome (HOXA1)
• Bosley-Salih-Alorainy syndrome (HOXA1)
• Carey-Fineman-Ziter syndrome (MYMK)
• Congenital fibrosis of extraocular muscles [MONDO:0007614] (GRHL2)
• Cortical dysplasia, complex, with other brain malformations 1 (TUBB3)
• Cortical dysplasia, complex, with other brain malformations 7 (TUBB2B)
• Deafness, autosomal dominant 28 GRHL2)
• Duane retraction syndrome 2 (CHN1)
• Duane retraction syndrome 3 (MAFB)
• Duane-radial ray syndrome (SALL4)
• Ectodermal dysplasia/short stature syndrome (GRHL2)
• Facial paresis, hereditary congenital, 3 (HOXB1)
• Fibrosis of extraocular muscles, congenital (TUBB2B)
• Fibrosis of extraocular muscles, congenital, 1 (KIF21A)
• Fibrosis of extraocular muscles, congenital, 2 (PHOX2A)
• Fibrosis of extraocular muscles, congenital, 3A (TUBB3)
• Fibrosis of extraocular muscles, congenital, 3B (KIF21A)
• Fibrosis of extraocular muscles, congenital, 5 (COL25A1)
• IVIC syndrome (SALL4)
• Lissencephaly 3 (TUBA1A)
• Mitochondrial DNA depletion syndrome 2, myopathic type (TK2)
• Mitochondrial DNA maintenance defect [genereviews] (TMPO)
• Oculopharyngeal muscular dystrophy (PABPN1)
• Ophthalmoplegia, external, with rib + vertebral anomalies (MYF5)
• Progressive external ophthalmoplegia with mitochondrial DNA deletions, AD (RRM2B)
• Progressive external ophthalmoplegia with mitochondrial DNA deletions, AD 2 (SLC25A4)
• Progressive external ophthalmoplegia with mitochondrial DNA deletions, AD 3 (TWNK)
• Progressive external ophthalmoplegia with mitochondrial DNA deletions, AR 3 (TK2)
• Progressive external ophthalmoplegia, AD 1 (POLG)
• Progressive external ophthalmoplegia, AR 1 (POLG)