All individuals with variants in gene FXR1

13 entries on 1 page. Showing entries 1 - 13.
Legend   How to query  

AscendingIndividual ID     
ID_report     
Reference     
Remarks     
Gender     
Consanguinity     
Country     
Population     
Age at death     
VIP     
Data_av     
Treatment     
Disease     
Phenotype details     
Variants     
Panel size     
Owner     
00240378 Fam1 PubMed: Estan 2019 5-generation family, 3 affected sibs (, unaffected heterozygous carrier parents/relatives F;M - Egypt - - - - - MYOP see paper; ... 1 3 Johan den Dunnen
00240379 Fam2 PubMed: Estan 2019 2-generation family, 3 affected sibs (F, 2M), unaffected heterozygous carrier parents/relatives F;M - Canada - - - - - MYOP see paper; ..., neonatal hypotonia, delayed gross motor milestones, mild/moderate obstructive sleep apne 1 3 Johan den Dunnen
00275622 FamAP51Pat1 PubMed: Santos-Cortez 2018 5-generation family, 3 affected (2F, M), unaffected heterozygous carrier parents/relatives M yes Pakistan - - - - - ID OFC 53cm; IQ 30, severe intellectual disability (HP:0010864); alopecia 1 3 Johan den Dunnen
00275623 FamAP51Pat3 PubMed: Santos-Cortez 2018 - F yes Pakistan - - - - - ID OFC 53cm; IQ 30, severe intellectual disability (HP:0010864) 1 1 Johan den Dunnen
00275624 FamAP51Pat4 PubMed: Santos-Cortez 2018 - F yes Pakistan - - - - - ID OFC 54cm; IQ 30, severe intellectual disability (HP:0010864) 1 1 Johan den Dunnen
00419900 FamAPatII1 PubMed: Mroczek 2022 2-generation family, affected brother/sister, unaffected parents M - Scotland - - - - - MYOP onset infancy/childhood; MRC muscle strength neck neck flexors/extensors 4-; MRC muscle strength upper limbs 4+ proximally, 5 distally; MRC muscle strength lower limbs hip flexion 3 on right, 4- on left, hip adductors 4-, hip abduction 5, knee flexion/extension 5, ankle dorsiflexion 3+, plantar flexion 5 ; no facial weakness; calf pseudohypertrophy; no scoliosis; no contractures, joint laxity; forced vital capacity normal; no sleep apnoea; no cognitive impairment; no cardiac involvement; normal CK level 1 2 Johan den Dunnen
00419901 FamAPatII2 PubMed: Mroczek 2022 sister F - Scotland - - - - - MYOP onset infancy/childhood; MRC muscle strength neck neck flexors 3-, neck extensors 4; MRC muscle strength upper limbs generalised weakness upper extremities 4–4+; MRC muscle strength lower limbs hip flexion 4 on right, 3 on left, hip adductors 4-, hip abduction 5, knee flexion/extension 5, ankle dorsiflexion 3+ on right, 0 on left, plantar flexion 5; no facial weakness; calf pseudohypertrophy; no scoliosis; no contractures, joint laxity; forced vital capacity normal; no sleep apnoea; no cognitive impairment; no cardiac involvement; EMG myopathic; normal CK level 1 1 Johan den Dunnen
00419902 FamBPatII1 PubMed: Mroczek 2022 2-generation family, 1 affected, unaffected heterozygous carrier parents F - Spain - - - - - MYOP congenital; MRC muscle strength neck neck flexors 3, neck extensors 4-; MRC muscle strength upper limbs proximal 3, distal 5; MRC muscle strength lower limbs psoas 2, thigh adductors 2, quadriceps 3, tibialis anterior 2, gastrocnemius 4+; no facial weakness; calf pseudohypertrophy; scoliosis; contractures; forced vital capacity 0.12; sleep apnoea; no cognitive impairment; no psychiatric symptoms; no cardiac involvement; EMG myopathic; normal CK level 1 1 Johan den Dunnen
00419903 FamCPatIII1 PubMed: Mroczek 2022 2-generation family, affected sister/brother, unaffected heterozygous carrier parents F yes Turkey - - - - - MYOP congenital; MRC muscle strength neck neck flexors 3-, neck extensors 3-; MRC muscle strength upper limbs proximal muscles 3+, distal 4-; MRC muscle strength lower limbs proximal 3-, distal 3+; no facial weakness; no calf pseudohypertrophy; scoliosis; contractures; forced vital capacity normal; no sleep apnoea; no cognitive impairment; no cardiac involvement; EMG myopathic; normal CK level 1 2 Johan den Dunnen
00419904 FamCPatIII3 PubMed: Mroczek 2022 brother M yes Turkey - - - - - MYOP congenital; MRC muscle strength neck poor head control, neck flexors and extensors 3; MRC muscle strength upper limbs antigravity movements; MRC muscle strength lower limbs reduced movements; no facial weakness; no calf pseudohypertrophy; no scoliosis; no contractures; forced vital capacity normal; no sleep apnoea; no cardiac involvement; normal CK level 1 1 Johan den Dunnen
00419905 FamDPatII3 PubMed: Mroczek 2022 2-generation family, 3 affected sibs, unaffected heterozygous carrier mother M - Canada - - - - - MYOP congenital; MRC muscle strength neck neck flexors 4-, neck extensors 4; MRC muscle strength upper limbs deltoids and biceps 3+ infraspinatus 4-, supinator 4+, triceps 4, wrist flexors 5, wrist extensors, digit flexors, digit extensors and opponens pollicis 4+, interossei 4+; MRC muscle strength lower limbs iliopsoas, thigh adductors, thigh abductors, gluteus maximus 2, quadriceps 4, hamstrings 4+, tibialis anterior 4+, gastrocnemius and soleus 5, extensor hallucis longus 4+and tibialis posterior and peronei 5; no facial weakness; calf pseudohypertrophy; scoliosis; no contractures; peripheral oxygen saturation 0.84; sleep apnoea; no cognitive impairment; psychiatric symptoms; no cardiac involvement; EMG myopathic; normal CK level 1 3 Johan den Dunnen
00419906 FamDPatII4 PubMed: Mroczek 2022 brother M - Canada - - - - - MYOP congenital; MRC muscle strength neck neck flexors 4-, neck extensors 4+; MRC muscle strength upper limbs deltoids 3+, biceps 4, supinator 4, infraspinatus 4–, triceps 4–, wrist flexors 4+, wrist extensors 4+, digit flexors 4+, digit extensors 4+, opponens pollicis 4+, flexor digitorum profundus and abductor digit minimi 4+; MRC muscle strength lower limbs iliopsoas and thigh abductors 1; thigh adductors 2, gluteus maximus 3, quadriceps 4, hamstrings 4+, tibialis anterior 4, gastrocnemius 4+, extensor hallucis longus 4 and tibialis posterior and peronei 5; no facial weakness; calf pseudohypertrophy; no scoliosis; no contractures; peripheral oxygen saturation 0.86; no sleep apnoea; no cognitive impairment; psychiatric symptoms; no cardiac involvement; EMG myopathic; normal CK level 1 1 Johan den Dunnen
00419907 FamDPatII5 PubMed: Mroczek 2022 sister F - Canada - - - - - MYOP congenital; MRC muscle strength neck neck flexors 4-, neck extensors 4+; MRC muscle strength upper limbs deltoids 3+, biceps 4-, supinators 4+, triceps 4-, wrist flexors, wrist extensors, digit, flexors and digit extensors 4+, opponens pollicis 5, abductor digiti minimi and flexor digitorum profundus 4; MRC muscle strength lower limbs iliopsoas 3, thigh adductors 4, thigh abductors 4, gluteus maximus 3, quadriceps 4, hamstrings 4+, tibialis anterior 4+, gastrocnemius-soleus 4+, extensor hallucis longus 4+, tibialis posterior and peronei 5; no facial weakness; calf pseudohypertrophy; no scoliosis; no contractures; forced vital capacity normal; sleep apnoea; no cognitive impairment; psychiatric symptoms; no cardiac involvement; EMG myopathic; normal CK level 1 1 Johan den Dunnen
Legend   How to query  

Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.
  Powered by LOVD v.3.0 Build 30b
LOVD software ©2004-2024 Leiden University Medical Center
Database contents © by their respective submitters and curators
 There are currently no updates.