All individuals with variants in gene DYNC1H1

67 entries on 1 page. Showing entries 1 - 67.
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00022372 - - - F no China - - - - - CMT2 weakness in lower extremities;mental retardation 1 1 Ying Zhang
00080905 - PubMed: Trujillano 2017 unaffected non-carrier parents - - - - - - - - MRD13 Mental retardation, autosomal dominant 13 (OMIM:614563) 1 1 Daniel Trujillano
00180151 29286531-Pat03 PubMed: Tumienė 2018 - - - (Slovenia) - - - - - ? (Rett-like syndrome): epilepsy (HP:0001250), focal seizures (HP:0007359), autism (HP:0000717), global developmental delay (HP:0001263), microcephaly (HP:0000252). 1 1 Johan den Dunnen
00183060 23033978-Trio54 PubMed: de Ligt 2012 - F - Netherlands - - - - - ID see paper; … 1 1 Johan den Dunnen
00207958 - - - M - Germany - - - - - - HP:0011344 (Severe global developmental delay); HP:0001344 (Absent speech); HP:0000252 (Microcephaly); HP:0001250 (Seizures); HP:0002263 (Exaggerated cupid's bow); HP:0030051 (Tip-toe gait); HP:0000322 (Short philtrum); HP:0000817 (Poor eye contact) 1 1 Andreas Laner
00210006 - - - M - Germany - - - - - - - 1 1 Andreas Laner
00269477 - PubMed: Minardi 2020 - - - Italy - - - - - EIEE Epileptic Encephalopathy (HP:0200134) 1 1 Francesca Bisulli
00281786 Pat6 PubMed: Sevy 2016, PubMed: Cerino 2020 - F - France - - - - - MPD - 1 1 Mathieu Cerino
00287377 - - - F ? Belgium - 20y - - - LGMD psoas weakness, pelvic girdle weakness, tibialis anterior weakness, easy fatigability 1 1 Alicia Alonso-Jiménez
00288201 Pat11 PubMed: Lee 2019 - - - United States - - - - - ? muscle weakness, flexion contracture, muscle atrophy, joint hypermobility, ankle contracture, decreased muscle mass, attention deficit hyperactivity disorder, absent achilles reflex, broad-based gait, shuffling gait, absent patellar reflexes, waddling gait, hyperlordosis, muscular dystrophy, learning disabilities, myopathy 1 1 Johan den Dunnen
00290964 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 1 Mohammed Faruq
00295567 - - - F - - - - - - - ? Abnormality of the curvature of the vertebral column (HP:0010674); Global developmental delay (HP:0001263); Abnormality of nervous system physiology (HP:0012638); Hip dysplasia (HP:0001385); Abnormality of the esophagus (HP:0002031); Achalasia (HP:0002571); Scoliosis (HP:0002650); Abnormality of the hip bone (HP:0003272); Demyelinating peripheral neuropathy (HP:0007108); Sensorimotor neuropathy (HP:0007141) 1 1 Andreas Laner
00299691 - - - M - - - - - - - ? Intellectual disability (HP:0001249); Abnormality of nervous system physiology (HP:0012638) 1 1 Andreas Laner
00299987 - PubMed: Antoniadi 2015 analysis 448 inherited peripheral neuropathy cases - - United Kingdom (Great Britain) - - - - - HMN - 1 1 Johan den Dunnen
00300036 - PubMed: Antoniadi 2015 analysis 448 inherited peripheral neuropathy cases - - United Kingdom (Great Britain) - - - - - CMT2 - 1 1 Johan den Dunnen
00300037 - PubMed: Antoniadi 2015 analysis 448 inherited peripheral neuropathy cases - - United Kingdom (Great Britain) - - - - - HMN - 1 1 Johan den Dunnen
00300038 - PubMed: Antoniadi 2015 analysis 448 inherited peripheral neuropathy cases - - United Kingdom (Great Britain) - - - - - CMT2 - 1 1 Johan den Dunnen
00300039 - PubMed: Antoniadi 2015 analysis 448 inherited peripheral neuropathy cases - - United Kingdom (Great Britain) - - - - - CMT2 - 1 1 Johan den Dunnen
00300040 Pat-DYNC1H1-a PubMed: Antoniadi 2015 analysis 448 inherited peripheral neuropathy cases - - United Kingdom (Great Britain) - - - - - HMN - 1 1 Johan den Dunnen
00300041 - PubMed: Antoniadi 2015 analysis 448 inherited peripheral neuropathy cases - - United Kingdom (Great Britain) - - - - - HMN - 1 1 Johan den Dunnen
00300042 - PubMed: Antoniadi 2015 analysis 448 inherited peripheral neuropathy cases - - United Kingdom (Great Britain) - - - - - HMN - 1 1 Johan den Dunnen
00300043 - PubMed: Antoniadi 2015 analysis 448 inherited peripheral neuropathy cases - - United Kingdom (Great Britain) - - - - - CMT2 - 1 1 Johan den Dunnen
00300044 - PubMed: Antoniadi 2015 analysis 448 inherited peripheral neuropathy cases - - United Kingdom (Great Britain) - - - - - neuropathy - 1 1 Johan den Dunnen
00300106 Pat-DYNC1H1-b PubMed: Antoniadi 2015 analysis 448 inherited peripheral neuropathy cases - - United Kingdom (Great Britain) - - - - - HMN - 1 1 Johan den Dunnen
00300141 Pat3 PubMed: Antoniadi 2015 analysis 448 inherited peripheral neuropathy cases - - United Kingdom (Great Britain) - - - - - HMN - 1 1 Johan den Dunnen
00302987 Pat32 PubMed: Helbig 2016 - - - United States - - - - - seizures Epileptic Encephalopathy, Infantile Spasms; age onset infantile 1 1 Johan den Dunnen
00305977 Pat8 PubMed: Johannesen 2020 2-generation family, 1 affected, unaffected non-carrier parents F - Denmark - - - - - epilepsy - 1 1 Johan den Dunnen
00314238 - PubMed: Topf 2020 analysis 1001 patients with unexplained limb-girdle weakness - - - - - - - - LGMD - 1 1 Johan den Dunnen
00314887 Trio65 PubMed: Zhu 2015 - M - Israel - - - - - ? General delay, autism spectrum disorder, intellectual disability, dysmorphic features—Kabuki like, hypotonia. 1 1 Johan den Dunnen
00314903 Trio96 PubMed: Zhu 2015 - M - United States - - - - - ? Failure to thrive, global developmental delay, hypotonia, congenital cataracts, microcephaly with decreased white matter volume, small corpus callosum, and possible migrational abnormality. 1 1 Johan den Dunnen
00315489 FamAus1 PubMed: Beecroft 2017, PubMed: Ravenscroft 2020, Journal: Ravenscroft 2020 4-generation family, 10 affected (3F, 7M) F;M - Australia - - - - - DA see paper; distal arthrogryposis , ... 1 1 Johan den Dunnen
00315490 FamAus2PatII1 PubMed: Beecroft 2017, PubMed: Ravenscroft 2020, Journal: Ravenscroft 2020 2-generation family, 1 affected, unaffected non-carrier parents M - Australia - - - - - DA see paper; onset birth; atrophy lower limbs; muscle weakness lower limbs; DTR reduced lower limb; born with feet dorsiflexed to shin, knee contractures, ... 1 1 Johan den Dunnen
00315491 FamTur1PatII1 PubMed: Beecroft 2017, PubMed: Ravenscroft 2020, Journal: Ravenscroft 2020 2-generation family, 1 affected, unaffected non-carrier parents M - Turkey - - - - - MYOP see paper; onset birth; distal lower limb atrophy; muscle weakness upper limb flexors MRC 4/5, lower limb proximal MRC 3/5, Gowers sign; DTR absent in lower limb; no joint contractures; pes cavus, scapular winging, lordosis, high-arched palate; myopathic face, ... 1 1 Johan den Dunnen
00315492 P4 PubMed: Beecroft 2017, PubMed: Ravenscroft 2020, Journal: Ravenscroft 2020 3-generation family, 1 affected M - Australia - - - - - DA see paper; onset birth; severe distal lower limb wasting; muscle weakness quadriceps and hamstrings moderately weak, hip strength normal; DTR absent in lower limbs, normal in upper limbs; no joint contractures; ankles fused in neutral position; low amplitude tibial nerve response, ... 1 1 Johan den Dunnen
00315501 SUDS080 PubMed: Neubauer 2021 - M - Switzerland Europe 19y - - - SUD SUD 1 1 Cordula Haas
00324338 - - submission from patient via MGZ - Laner F ? - - - - - - SMA Delayed ability to walk; Global developmental delay 1 1 Andreas Laner
00324409 MRtrio1 PubMed: Vissers 2010 2-generation family, 1 affected, unaffected heterozygous carrier parents M - (Netherlands) - - - - - ID see paper; ... 1 1 Johan den Dunnen
00334938 PME64 PubMed: Courage 2021, Journal: Courage 2021 - M no Italy - - - - - HMN8 Onset age 12 of multifocal action and rest myoclonus. Frequent TCS and absence seizures refractory to medication from 22 years of age. No ataxia, normal cognition. Moderate dysarthria. 1 1 Carolina Courage
00374264 S-2058 PubMed: Ganapathy 2019 - - - India - - - - - ? Hypotonia, muscle atrophy and Gowers' sign 1 1 Johan den Dunnen
00374718 S-2001 PubMed: Ganapathy 2019 - - - India - - - - - ? - 1 1 Johan den Dunnen
00374719 S-846 PubMed: Ganapathy 2019 - - - India - - - - - ? - 1 1 Johan den Dunnen
00374720 S-4324 PubMed: Ganapathy 2019 - - - India - - - - - ? - 1 1 Johan den Dunnen
00375639 Pat5 PubMed: Srivastava 2014 - - - United States - - - - - ? intellectual disability/developmental delay; microcephaly; hypotonia, broad-based gait; self-injurious behavior, stereotyped behavior; MRI brain polymicrogyria 1 1 Johan den Dunnen
00377144 Huashan DYNC1H1-001 - - M no China Han - - - - CMT2O muscle weakness (HP:0001324); distal amyotrophy (HP:0003693); motor delay (HP:0001270); lordosis (HP:0003307); no intellectual disability (-HP:0001249) 1 1 Xiangjun Chen
00377145 Huashan DYNC1H1-002 - - F no China Han - - - - CMT2O distal amyotrophy (HP:0003693); muscle weakness (HP:0001324); motor delay (HP:0001270); pes cavus (HP:0001761); no intellectual disability (-HP:0001249) 1 1 Xiangjun Chen
00398815 962 PubMed: Ferese 2021 2-generation family, 1 affected, family members unavailable for testing M - Italy - >36y - - - CMT2O Demyelinating peripheral neuropathy (HP:0007108), Decreased nerve conduction velocity (HP:0000762) 1 1 Yvet den Hartog
00398816 731 PubMed: Ferese 2021 2-generation family, 1 affected, family members unavailable for testing F - Italy - >63y - - - CMT2O Peripheral neuropathy (HP:0009830), Decreased nerve conduction velocity (HP:0000762) 1 1 Yvet den Hartog
00398989 P7 PubMed: Gonzalez-Quereda 2020 patient M - Spain - - - - - NMD serum CK normal; muscle biopsy yype 1 fiber predominance; plagiocephaly, microcephaly, hypotonia 1 1 Johan den Dunnen
00402727 192027 - - M no Germany - - - - - SMALED1 Myopathy, Exercise intolerance, Myopathic facies, Pectoralis amyotrophy, Shoulder girdle muscle weakness, Upper limb muscle weakness, Muscular dystrophy 1 1 Andreas Laner
00408682 Pat09 PubMed: Thomas 2022 no family history - no France - - - - - NMD - 1 1 Johan den Dunnen
00414374 WHP41 PubMed: Sun 2018 - M - China - - - - - ? Charcot-Marie-Tooth disease;Autosomal Dominant Lower Extremity-Predominant Spinal Muscular Atrophy 1 1 1 LOVD
00415084 203285 - - M - Germany - - - - - CMT2O Sensory axonal neuropathy 1 1 Andreas Laner
00419884 Pat6 PubMed: Angelozzi 2022 2-generation family, 1 affected, unaffected non carrier parents F - - - - - - - NDD birth 30w2d; no IUGR; failure to thrive; feeding difficulties; axial hypotonia; global developmental delay; gross motor delay; fine motor delay; 20-21m-sit; speech delay, 28m-first words (mama, dada); behavioral problems; hyperactivity/ADHD; no anxiety; stereotypies; no microcephaly; MRI brain hypoplastic cochlear nerves and possible absence of the inferior division of the vestibular nerves bilaterally; EEG mild diffuse background slowing consistent with diffuse encephalopathy of nonspecific etiology; no seizures; hypertonia of upper extremities, moves all extremities but no purposeful movement, no object tracking, mostly does not grasp objects, abnormal movements, likely stereotypies (did not correlate with seizures on video-EEG) since birth.; myopia; alternating esotropia; bilateral auditory neuropathy spectrum disorder vs. sensorineural hearing loss; facial dysmorphism, mild coarse facial appearance, bitemporal narrowing, bulbous nose tip; anteverted nares and low depressed nasal bridge, big cheeks; downturned corners of mouth; philtrum protudes with philtral pillars present, but poorly developed, narrow palate, mild retrognathia; broad secondary alveolar ridges, with normal labial philtrum; normal hands/feet; moderate-large ventricular septal defect; no atrial septal defect; patent foramen; bilateral superior vena cava; no gastrointestinal findings; no genitourinary findings 1 1 Johan den Dunnen
00432486 209605 - - M no Germany - - - - - SMALED Talipes equinovarus, Motor delay, Lower limb muscle weakness, Skeletal muscle hyperechogenicity 1 1 Andreas Laner
00433656 - - - - - - - - - - - MRD13 intellectual disability, developmental dysphasia, attention-deficit disorder, dyspraxia 1 1 Marketa Wayhelova
00440375 PED2267.1 PubMed: Nambot 2018 - - - France - - - - - ? - 1 1 Johan den Dunnen
00442657 Pat29 PubMed: Westra 2019 - M - - - - - - - NMD - 1 1 Johan den Dunnen
00442658 Pat30 PubMed: Westra 2019 - F - - - - - - - NMD Limb-girdle and axial muscle weakness with mild hypermobility; muscle biopsy: type 1 fiber size predominance with presence of internal nuclei and some core-like structures 1 1 Johan den Dunnen
00442747 Pat119 PubMed: Westra 2019 - M - - - - - - - NMD - 1 1 Johan den Dunnen
00442748 Pat120 PubMed: Westra 2019 - M - - - - - - - NMD - 1 1 Johan den Dunnen
00442768 Pat140 PubMed: Westra 2019 - F - - - - - - - NMD Distal muscle weakness, hyperCKaemia 1 1 Johan den Dunnen
00442774 Pat146 PubMed: Westra 2019 - M - - - - - - - NMD Distal muscle weakness, autosomal dominant 1 1 Johan den Dunnen
00442775 Pat147 PubMed: Westra 2019 - M - - - - - - - NMD - 1 1 Johan den Dunnen
00442803 Pat175 PubMed: Westra 2019 - F - - - - - - - NMD Muscle weakness, exercise intolerance and myalgia 1 1 Johan den Dunnen
00466000 335169 - - M no Germany - - - - - MRD13 Global developmental delay, Autistic behavior, Microcephaly 1 1 Andreas Laner
00466002 335446 - - M ? ? (unknown) Arabia - - - - SMALED1 Neurodevelopmental delay, Gait ataxia, Hypotonia, Elevated circulating hepatic transaminase concentration 1 1 Andreas Laner
00466873 345963 - - M ? ? (unknown) - - - - - MRD13 Global developmental delay, Delayed speech and language development, Motor delay, Intellectual disability, Attention deficit hyperactivity disorder, Low-set ears, Encopresis, Microcephaly, Short stature, Atrial septal defect, Extremely preterm birth, Anteverted ears, Failure to thrive 1 1 Andreas Laner
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