All individuals with variants in gene HINT1

27 entries on 1 page. Showing entries 1 - 27.
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     
00035947 - - - - - Germany - - - - - - - 1 1 Andreas Laner
00035948 - - - - - Germany - - - - - - - 1 1 Andreas Laner
00050575 - PubMed: DDDS 2015, Journal: DDDS 2015 family, 1 affected F - United Kingdom (Great Britain) - - - Decipher - ? intellectual disability, seizures 1 1 Johan den Dunnen
00207942 - - - M - Germany - - - - - - HP:0011804 (Abnormality of muscle physiology); HP:0003326 (Myalgia) 1 1 Andreas Laner
00207968 - - - M - Germany - - - - - - HP:0003198 (Myopathy); HP:0011805 (Abnormality of muscle morphology) 1 1 Andreas Laner
00210188 - - - M - Germany - - - - - - HP:0009830 (Peripheral neuropathy) 2 1 Andreas Laner
00219057 28902413-Pat67 PubMed: Dohrn 2017, Journal: Dohrn 2017 analysis 612 patients M - (Germany) - - - - - CMT AR-CMT2 + Neuromyotonia; no family history 2 1 Johan den Dunnen
00219058 28902413-Pat68 PubMed: Dohrn 2017, Journal: Dohrn 2017 analysis 612 patients F - (Germany) - - - - - CMT AR-CMT2 + Neuromyotonia 1 1 Johan den Dunnen
00219059 28902413-Pat69 PubMed: Dohrn 2017, Journal: Dohrn 2017 analysis 612 patients F - (Germany) - - - - - CMT AR-CMT2 + Neuromyotonia 1 1 Johan den Dunnen
00219060 28902413-Pat70 PubMed: Dohrn 2017, Journal: Dohrn 2017 analysis 612 patients M - (Germany) - - - - - CMT AR-CMT2 + Neuromyotonia 2 1 Johan den Dunnen
00219061 28902413-Pat71 PubMed: Dohrn 2017, Journal: Dohrn 2017 analysis 612 patients F - (Germany) - - - - - CMT AR-CMT2 + Neuromyotonia 1 1 Johan den Dunnen
00295640 - - - M - - - - - - - ? Muscle stiffness (HP:0003552); Myopathy (HP:0003198) 1 1 Andreas Laner
00296544 - - - M - - - - - - - ? Gait disturbance (HP:0001288); Talipes equinovarus (HP:0001762) 1 1 Andreas Laner
00301389 - - - F - Germany - - - - - ? Peripheral axonal degeneration (HP:0000764); Sensory axonal neuropathy (HP:0003390) 1 1 Andreas Laner
00375213 - - - ? - - - - - - - ? Muscle weakness (HP:0001324) 1 1 Andreas Laner
00386458 Pat58 Journal: Riba 2021 patient F no Brazil white - - - - skeletal dysplasia macrocephaly; rhizomelic members; trident hands; no lordosis; no hydrocephalus; no cloverleaf skull; no bowed femurs 1 1 Johan den Dunnen
00473413 Fam208836Pat712 PubMed: Molaei 2025 analysis 2009 neuromuscular disorder individuals; patient, no family history M yes Iran - - - - - neuropathy onset 15y ,distal upper and lower muscle weakness, pes cavus, foot drop, toe and heel walking inability and chronic motor polyneuropathy reported in NCV. 1 1 Johan den Dunnen
00473856 Fam9802393Pat1354 PubMed: Molaei 2025 analysis 2009 neuromuscular disorder individuals; patient, no family history M yes Iran - - - - - SMA onset 11y with difficulty walking; Difficulty running & climbing steps; Hand muscle spasm; Distal & proximal muscle weakness in legs>arms, mild; Wasting in distal of legs; Tremor in hands; Feet drop; Claw hallux, bilateral; Pes cavus; Abnormal gait; EMG-NCV: chronic ant. horn cell, mostly lower limbs. 1 1 Johan den Dunnen
00473926 Fam9901609Pat1448 PubMed: Molaei 2025 analysis 2009 neuromuscular disorder individuals; patient, no family history M yes Iran - - - - - ? onset 11y with muscle cramps, stiffness and weakness, progressive; Delayed muscle relaxation; Myopia; Increased sweating; Mild muscle atrophy; Myokymia; EMG: neuromyotonia and myokymia. 1 1 Johan den Dunnen
00473946 Fam9907266Pat1475 PubMed: Molaei 2025 analysis 2009 neuromuscular disorder individuals; patient, family history M yes Iran - - - - - neuropathy onset 10y with severe pain & spasm in feet, extended to hands; Difficulty walking, running, climbing steps and rising from seated position; Distal muscle weakness, legs>arms; Lordosis; Tremor in hands; Thenar & hypothenar atrophy; Ankle deformity; Claw toes; Feet drop, bilateral; Flat feet; Abnormal gait; Prominent calves; EMG-NCV: motor polyneuropathy, mainly axonal features. 1 1 Johan den Dunnen
00474658 Pat1 PubMed: Morel 2022 patient F no Austria - - - - - NDD see paper; ..., abnormal without aids; pes planus; scoliosis; no deep tendon reflexes; Abnormal; myotonia; muscle retractions; axonal motor neuropathy; no neuromyotonia; dyslexia; no psychiatric disorder; MRI brain normal 1 1 Johan den Dunnen
00474659 Pat2 PubMed: Morel 2022 patient M yes Portugal - - - - - NDD see paper; ..., abnormal with orthosis; pes planus, short Achille's tendons; scoliosis; no deep tendon reflexes; Abnormal; myotonia; axonal motor, sensory neuropathy; no neuromyotonia; intellectual disability; no psychiatric disorder; MRI brain normal 1 1 Johan den Dunnen
00474660 Pat3 PubMed: Morel 2022 patient M no Kosovo - - - - - NDD see paper; ..., abnormal without aids; pes planus; no scoliosis; no deep tendon reflexes; Abnormal; myotonia; axonal motor, sensory neuropathy; neuromyotonia; no psychiatric disorder 1 1 Johan den Dunnen
00474661 Pat4 PubMed: Morel 2022 patient M no France - - - - - NDD see paper; ..., abnormal without aids; scoliosis; no deep tendon reflexes; NA; myotonia; lordosis, irregular tremor on the finger‐nose test, overweight, hip hyperlaxity, chronic constipation; axonal motor, sensory neuropathy; neuromyotonia; neurodevelopmental disorder; depression, TDAH 1 1 Johan den Dunnen
00474662 Pat5 PubMed: Morel 2022 patient F yes - Roma - - - - NDD see paper; ..., abnormal without aids; short Achille's tendons; no scoliosis; no deep tendon reflexes; Abnormal; myotonia; axonal motor neuropathy; neuromyotonia; neurodevelopmental disorder, intellectual disability; generalized anxiety disorder, obsessive-compulsive disorder 1 1 Johan den Dunnen
00474663 Pat6 PubMed: Morel 2022 patient M yes Algeria - - - - - NDD see paper; ..., abnormal without aids; pes planus, short Achille's tendons; no scoliosis; no deep tendon reflexes; Abnormal; no myotonia; hypersudation; ataxia; axonal motor neuropathy; no neuromyotonia; neurodevelopmental disorder, intellectual disability; no psychiatric disorder; MRI brain normal 1 1 Johan den Dunnen
00474664 Pat7 PubMed: Morel 2022 patient M no France Roma - - - - NDD see paper; ..., abnormal without aids; pes planus; no scoliosis; no deep tendon reflexes; Abnormal; no myotonia; axonal motor neuropathy; no neuromyotonia; neurodevelopmental disorder, intellectual disability; no psychiatric disorder 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.