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Table 1 Molecular findings and multiorgan characteristics

From: Phosphomannomutase deficiency (PMM2-CDG): ataxia and cerebellar assessment

Patient/Sex 1 Male 2 Female 3 Female 4 Male 5 Male 6 Female 7 Female 8 Male 9 Female 10 Female 11 Female 12 Female 13 Male
Molecular findings p.E93A/p.R141H p.R123Q/p.C241S p.F157S/p.C241S p.L32R/p.R141H p.R162W/c.523 + 3A > G p.F157S/p.R162W p.P113L/p.D209G p.C241S/p.R141H p.T237M/c.640-9 T > G p.P113L/c.353C > T + c.550C > A p.R123X/p.I153T p.P113L/p.P113L p.E139K/ p.E139K
Age at evaluation/age at onset 15 years/21 months 6 years/9 months 8 years/8 months 7 years/Newborn 10 years/3 months 10 years/8 months 11 years/Newborn 5 years/2.5 years 11 years/8 months 8 years/7 months 16 years/Newborn 6 years/3 months 11 years/ Newborn
Dysmorphic features Large normal setting ears Almond slanted eyes No Anteverted ears Inverted nipples Lipodystrophy Almond slanted eyes, lipodystrophy No Almond slanted eyes Almond slanted eyes, low anteverted ears, lipodystrophy Almond slanted eyes, thick lips, pronounced cheekbones, lipodystrophy Almond slanted eyes, broad face, large mouth, lipodystrophy, Almond slanted eyes, broad face, large mouth, lipodystrophy
Cardiac involvement No No No No No No No No No No No PDA Truncus arteriosus
Digestive involvement Diarrhea, hypoglycemia No No Vomits No ↑ALT ↑ALT, AST (only perinatal period) No ↑ALT, AST Growth failure, hypoglycemia Vomits, growth failure, diarrhea ↑ALT, AST Failure to drive
Coagulation ↓ AT-III, PC ↓ AT-III, PC, PS ↓ AT-III, PC ↓ AT-III, PC Normal ↑ PT; ↓AT-III, PS ↓ PC, PS No ↓FXI ↑PT, aPTT, ↓ aPTT ↓ AT-III ↑PT
Endocrine involvement No No No No No No Hypergonadotropic hypogonadism No No Mild ↑TSH, hypoglycemia Delayed puberty ND No
Kidney involvement Nephro calcinosis No No No No No No No No ↑Echogenicity, nephrolithiasis Proteinuria No No
Eye abnormalities Strabismus, pigmentary retinopathy Strabismus upgaze deviation Strabismus Strabismus, hypermetropia, astigmatism Strabismus, saccadic movements hypermetropia Strabismus, hypermetropia Strabismus, hypermetropia, astigmatism, abnormal ERG No Strabismus Strabismus, upgaze deviation, saccadic movements Strabismus, upgaze deviation, retinopathy, hypermetropia Strabismus, hypermetropia Strabismus
  1. PDA Persistent ductus arteriosus, ALT Alanine transaminase, AST Aspartate transaminase, ↑ Increased values, ↓ Decreased values, AT-III Antithrombin III, PC Protein C, PS Protein S, FXI Coagulation factor XI, aPTT Activated partial thromboplastin time, FIX Coagulation factor IX, PT Prothrombin time, ND No data available, TSH Thyroid stimulating hormone