All individuals with variants in gene COL13A1

5 entries on 1 page. Showing entries 1 - 5.
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AscendingIndividual ID     
ID_report     
Reference     
Remarks     
Gender     
Consanguinity     
Country     
Population     
Age at death     
VIP     
Data_av     
Treatment     
Disease     
Phenotype details     
Variants     
Panel size     
Owner     
00065207 26626625-Fam1PatII1 PubMed: Logan 2016, Journal: Logan 2016 2-generation family, 1 affected, unaffected heterozygous carrier mother F no United Kingdom (Great Britain) white, European >02y - - combination of 3,4-diaminopyridine, salbutamol, non-invasive ventilation and pyridostigmine CMS breathing difficulty (HP:0002094), feeding difficulty (HP:0011968), ptosis (HP:0000508), no ophthalmoparesis (-HP:0000597), no facial weakness (-HP:0010628), bulbar weakness (HP:0001283), proximal weakness upper limbs (HP:0008997), proximal weakness lower limbs (HP:0008994), distal weakness upper limbs (HP:0008959), distal weakness lower limbs (HP:0009053), axial weakness (HP:0003327), distal-joint laxity (HP:0002761), no contractures (-HP:0001371), no spinal rigidity (-HP:0003306), dysmorphic features (HP:0001999), decrement on RNS (HP:0003403), abnormal jitter (HP:?), lower-respiratory-tract infection (HP:0002783), variation in fiber size (HP:0003557), generalized hypotonia (HP:0001290), gastroesophageal reflux (HP:0002020) 1 1 Jamie Zeegers
00065215 26626625-Fam2PatII1 PubMed: Logan 2016, Journal: Logan 2016 2-generation family, affected brother/sister, unaffected heterozygous carrier parents M yes United Kingdom (Great Britain) Indian >27y - - - CMS feeding difficulty (HP:0011968), ptosis (HP:0000508), no ophthalmoparesis (-HP:0000597), facial weakness (HP:0010628), no bulbar weakness (-HP:0001283), no proximal weakness upper limbs (-HP:0008997), no proximal weakness lower limbs (-HP:0008994), distal weakness upper limbs (HP:0008959), no distal weakness lower limbs (-HP:0009053), right axial weakness (HP:0003327), no distal-joint laxity (-HP:0002761), no contractures (-HP:0001371), spinal rigidity (HP:0003306), dysmorphic features (HP:0001999), mild learning difficulties (HP:0001328), decrement on RNS (HP:0003403), abnormal jitter (HP:?), lower-respiratory-tract infection (HP:0002783), dyspnoea on exertion (HP:0001328), recurrent chest infections (HP:0002783) 1 2 Jamie Zeegers
00065217 26626625-Fam2PatII2 PubMed: Logan 2016, Journal: Logan 2016 - F yes United Kingdom (Great Britain) Indian 08y - - Non-invasive ventilation and pyridostigmine treatment CMS breathing difficulty (HP:0002094), feeding difficulty (HP:0011968), ptosis (HP:0000508), right ophthalmoparesis (HP:0000597), facial weakness (HP:0010628), bulbar weakness (HP:0001283), proximal weakness upper limbs (HP:0008997), proximal weakness lower limbs (HP:0008994), distal weakness upper limbs (HP:0008959), distal weakness lower limbs (HP:0009053), axial weakness (HP:0003327), distal-joint laxity (HP:0002761), no contractures (-HP:0001371), spinal rigidity (HP:0003306), dysmorphic features (HP:0001999), lower-respiratory-tract infection (HP:0002783), chronic lung disease (HP:0006528), hiatus and diaphragmatic hernia (HP:0002036), recurrent chest infection (HP:0002783) 1 1 Jamie Zeegers
00406654 24 - - F - - - - - - - CMS19 - 1 1 Martin Krenn
00426116 18DF5800 PubMed: Al-Kasbi 2022 patient, other affecteds in family M - Oman - - - - - ID - 1 1 Johan den Dunnen
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