Disease #00026 (arthrogryposis (arthrogryposis))

Official abbreviation arthrogryposis
Name arthrogryposis
OMIM ID -
Inheritance -
Individuals reported having this disease 64
Phenotype entries for this disease 64
Associated with 2 genes GLE1, TNNT3
Associated tissues -
Disease features -
Remarks -
Date created 2012-08-03 16:49:36 +02:00 (CEST)
Date last edited 2019-01-04 15:23:51 +01:00 (CET)


Individuals

64 entries on 1 page. Showing entries 1 - 64.
Legend   How to query  

AscendingIndividual ID     
ID_report     
Reference     
Remarks     
Gender     
Consanguinity     
Country     
Population     
Age at death     
VIP     
Data_av     
Treatment     
Disease     
Phenotype details     
Genes screened
Variants in genes
Variants     
Panel size     
Owner     
00011457 Fam2 PubMed: Ellard 2015, Journal: Ellard 2015 couple, 3 pregnancies terminated following 20wk scan showing fetal abnormalities ? no United Kingdom (Great Britain) mixed 00y - - - arthrogryposis multiple pterigia, arthrogryposis, pulmonary hypoplasia, hydrops fetalis RYR1 RYR1 2 3 Hana Lango-Allen
00079622 - PubMed: Attali 2009 4-generation family, 4 affecteds - - Palestine - - - - - arthrogryposis myogenic arthrogryposis multiplex congenita (AMC) SYNE1 SYNE1 2 4 Johan den Dunnen
00079628 - - family, 2 affecteds M - Iran - - - - - arthrogryposis autosomal recessive form of myogenic arthrogryposis multiplex congenita (AMC) SYNE1 SYNE1 2 2 Zohreh Fattahi
00095045 - - - - - - - - - Yes - arthrogryposis Arthrogryposis multiplex congenita, hydrops fetalis - RYR1 2 1 Karen Stals
00132791 patient PubMed: Sandaradura 2018, PubMed: Ravenscroft 2020, Journal: Ravenscroft 2020 - M no Australia Aboriginal/white;white - - - - arthrogryposis see paper; ..., distal arthrogryposis; abnormal facial shape; scoliosis; respiratory insufficiency; contractures joints upper limbs; contractures joints lower limbs - TNNT3 1 1 Mark Davis
00153391 128748 - sample of a fetus with Arthrogryposis multiplex congenita, mother not yet analysed ? ? Germany - - - - - arthrogryposis Arthrogryposis multiplex congenita MYH8 MYH8 1 1 Andreas Laner
00154502 129386 - prenatal analysis, fetus has been analyzed with panel "Fetale Akinesie / Arthrogryposis Multiplex Congenita (AMC) ID 078.02 - 186 genes" (www.mgz-muenchen.de). Contamination test has been performed ? ? Germany - - - - - arthrogryposis Hypokinesia, fixed fingers, polyhydramnios TNNI2 TNNI2 1 1 Andreas Laner
00163650 - - Fetus, TOP 24th GW F no Germany - - - yes none arthrogryposis Increased nuchal translucency (HP:0010880), Arthrogryposis multiplex congenita (HP:0002804), Fetal akinesia sequence (HP:0001989), Bilateral talipes equinovarus (HP:0001776), Polyhydramnios (HP:0001561), Hypertelorism (HP:0000316), Palpebral edema (HP:0100540), Micrognathia (HP:0000347) CHRNA1, CHRNB1, CHRND, CHRNE, CHRNG, CNTN1, DOK7, KLHL40, MTM1, MUSK, NALCN, RAPSN, UBA1 CHRNA1, CHRNE, CHRNG, CNTN1, DOK7, KLHL40, NALCN, RAPSN, UBA1 26 1 Florian Erger
00213517 - - - M - United States - - - - - arthrogryposis - TPM2 TPM2 1 1 Tom Winder
00213518 - - - - - United States - - - - - arthrogryposis - TPM2 TPM2 1 1 Tom Winder
00248327 FamA PubMed: Ravenscroft 2015 4-generation family, 1 affected fetus, unaffected heterozygous carrier parents/relatives - yes - - - - - - arthrogryposis see paper; … GPR126 GPR126 1 1 Johan den Dunnen
00248328 FamB PubMed: Ravenscroft 2015 4-generation family, 1 affected, unaffected heterozygous carrier parents/relatives F yes - - - - - - arthrogryposis see paper; … GPR126 GPR126 1 1 Johan den Dunnen
00248329 FamC PubMed: Ravenscroft 2015 2-generation family, 1 affected, unaffected heterozygous carrier parents F yes - - - - - - arthrogryposis see paper; … GPR126 GPR126 1 1 Johan den Dunnen
00248340 FamPatV1/2 PubMed: Dohrn 2015 5-generation family, 2 affected female fetuses, unaffected heterozygous carrier parents/relatives F yes Sudan - - - - - arthrogryposis see paper; ... ECEL1 ECEL1 1 2 Johan den Dunnen
00248436 Fam1Pat1 PubMed: McMillin 2013 5-generation family, 4 affected (2F, 2M), unaffected heterozygous carrier parents - no India Indian;Europe (east) - - - - arthrogryposis see paper; …, extension contractures knee; camptodactyly hands, including adducted thumbs and wrists; mild camptodactyly toes; clubfoo, calcaneovalgus deformity; distinctive facial features, unilateral ptosis, round‐shaped face, arched eyebrows, bulbous upturned nose, micrognathia; no ophtalmoplegia ECEL1 ECEL1 2 4 Johan den Dunnen
00248437 Fam1Pat2 PubMed: McMillin 2013 - - yes India Indian - - - - arthrogryposis see paper; …, extension contractures knee; camptodactyly hands, including adducted thumbs and wrists; mild camptodactyly toes; clubfoo, calcaneovalgus deformity; distinctive facial features, unilateral ptosis, round‐shaped face, arched eyebrows, bulbous upturned nose, micrognathia; no ophtalmoplegia ECEL1 ECEL1 1 1 Johan den Dunnen
00248438 Fam1Pat3 PubMed: McMillin 2013 - - yes India Indian - - - - arthrogryposis see paper; …, extension contractures knee; camptodactyly hands, including adducted thumbs and wrists; mild camptodactyly toes; clubfoo, calcaneovalgus deformity; distinctive facial features, unilateral ptosis, round‐shaped face, arched eyebrows, bulbous upturned nose, micrognathia; no ophtalmoplegia ECEL1 ECEL1 1 1 Johan den Dunnen
00248439 Fam2Pat1 PubMed: McMillin 2013 2-generation family, 2 affected (F, M), unaffected heterozygous carrier parents - no United States white - - - - arthrogryposis see paper; …, extension contractures knee; camptodactyly hands, including adducted thumbs and wrists; mild camptodactyly toes; clubfoo, calcaneovalgus deformity; distinctive facial features, unilateral ptosis, round‐shaped face, arched eyebrows, bulbous upturned nose, micrognathia; no ophtalmoplegia ECEL1 ECEL1 2 2 Johan den Dunnen
00248440 Fam2Pat2 PubMed: McMillin 2013 - - no United States white - - - - arthrogryposis see paper; …, extension contractures knee; camptodactyly hands, including adducted thumbs and wrists; mild camptodactyly toes; clubfoo, calcaneovalgus deformity; distinctive facial features, unilateral ptosis, round‐shaped face, arched eyebrows, bulbous upturned nose, micrognathia; no ophtalmoplegia ECEL1 ECEL1 2 1 Johan den Dunnen
00248441 Fam3Pat1 PubMed: McMillin 2013 2-generation family, 2 affected (2F), unaffected heterozygous carrier parents - no United States white - - - - arthrogryposis see paper; …, extension contractures knee; camptodactyly hands, including adducted thumbs and wrists; mild camptodactyly toes; clubfoo, calcaneovalgus deformity; distinctive facial features, unilateral ptosis, round‐shaped face, arched eyebrows, bulbous upturned nose, micrognathia; no ophtalmoplegia ECEL1 ECEL1 2 2 Johan den Dunnen
00248442 Fam3Pat2 PubMed: McMillin 2013 - - no United States white - - - - arthrogryposis see paper; …, extension contractures knee; camptodactyly hands, including adducted thumbs and wrists; mild camptodactyly toes; clubfoo, calcaneovalgus deformity; distinctive facial features, unilateral ptosis, round‐shaped face, arched eyebrows, bulbous upturned nose, micrognathia; no ophtalmoplegia ECEL1 ECEL1 2 1 Johan den Dunnen
00248443 Fam4Pat1 PubMed: McMillin 2013 2-generation family, 1 affected, unaffected heterozygous carrier parents - no India Indian - - - - arthrogryposis see paper; …, extension contractures knee; camptodactyly hands, including adducted thumbs and wrists; mild camptodactyly toes; clubfoo, calcaneovalgus deformity; distinctive facial features, unilateral ptosis, round‐shaped face, arched eyebrows, bulbous upturned nose, micrognathia; no ophtalmoplegia ECEL1 ECEL1 1 1 Johan den Dunnen
00248444 Fam5Pat1 PubMed: McMillin 2013 2-generation family, 1 affected, unaffected heterozygous carrier parents - no United States white - - - - arthrogryposis see paper; …, extension contractures knee; camptodactyly hands, including adducted thumbs and wrists; mild camptodactyly toes; clubfoo, calcaneovalgus deformity; distinctive facial features, unilateral ptosis, round‐shaped face, arched eyebrows, bulbous upturned nose, micrognathia; no ophtalmoplegia ECEL1 ECEL1 2 1 Johan den Dunnen
00248445 Fam1Pat1 PubMed: Dieterich 2013 2-generation family, 4 affected (F, 3M), unaffected heterozygous carrier parents - yes Mali Malian - - - - arthrogryposis see paper; …, extension contractures knees; congenital hip dislocation, flexion contractures fingers III-V; talus, talus valgus or varus; short neck; diminished muscle mass, central tongue atrophy; no pterygia; third trimester knee extension on ultra-sound; unaffected muscle type‐I‐fiber predominance, mild difference in fiber size, moderate lipid storage ECEL1 ECEL1 1 4 Johan den Dunnen
00248446 Fam1Pat2 PubMed: Dieterich 2013 - - yes Mali Malian - - - - arthrogryposis see paper; …, extension contractures knees; congenital hip dislocation, flexion contractures fingers III-V; talus, talus valgus or varus; short neck; diminished muscle mass, central tongue atrophy; no pterygia; third trimester knee extension on ultra-sound; unaffected muscle type‐I‐fiber predominance, mild difference in fiber size, moderate lipid storage ECEL1 ECEL1 1 1 Johan den Dunnen
00248447 Fam1Pat3 PubMed: Dieterich 2013 - - yes Mali Malian - - - - arthrogryposis see paper; …, extension contractures knees; congenital hip dislocation, flexion contractures fingers III-V; talus, talus valgus or varus; short neck; diminished muscle mass, central tongue atrophy; no pterygia; third trimester knee extension on ultra-sound ECEL1 ECEL1 1 1 Johan den Dunnen
00248448 Fam1Pat4 PubMed: Dieterich 2013 - - yes Mali Malian - - - - arthrogryposis see paper; …, extension contractures knees; congenital hip dislocation, flexion contractures fingers III-V; talus, talus valgus or varus; short neck; diminished muscle mass, central tongue atrophy; no pterygia; third trimester knee extension on ultra-sound ECEL1 AMPD1, PRKAR1A 1 1 Johan den Dunnen
00248449 Fam2Pat1 PubMed: Dieterich 2013 2-generation family, 2 affected sisters, unaffected heterozygous carrier parents F yes Belgium - - - - - arthrogryposis see paper; …, extension contractures knees; congenital hip dislocation, flexion contractures fingers III-V; talus, talus valgus or varus; short neck; diminished muscle mass, central tongue atrophy; no pterygia; born at term, breech presentation ECEL1 ECEL1 1 2 Johan den Dunnen
00248450 Fam2Pat2 PubMed: Dieterich 2013 - F yes Belgium - - - - - arthrogryposis see paper; …, extension contractures knees; congenital hip dislocation, flexion contractures fingers III-V; talus, talus valgus or varus; short neck; diminished muscle mass, central tongue atrophy; no pterygia; reduced fetal movement, born at term ECEL1 ECEL1 1 1 Johan den Dunnen
00248451 Fam3Pat1 PubMed: Dieterich 2013 2-generation family, 1 affected, unaffected heterozygous carrier parents F no Martinique - - - - - arthrogryposis see paper; …, extension contractures knees; congenital hip dislocation, flexion contractures fingers III-V; talus, talus valgus or varus; short neck; diminished muscle mass, central tongue atrophy; no pterygia; reduced fetal movement, intrauterine growth retardation, born at term, breech presentation; unaffected muscle type‐I‐fiber predominance ECEL1 ECEL1 2 1 Johan den Dunnen
00248452 Fam4Pat1 PubMed: Dieterich 2013 2-generation family, 1 affected, unaffected heterozygous carrier parents F yes Turkey - - - - - arthrogryposis see paper; …, extension contractures knees; congenital hip dislocation, flexion contractures fingers III-V; talus, talus valgus or varus; short neck; diminished muscle mass, central tongue atrophy; no pterygia; normal ultra-sound, born at term ECEL1 ECEL1 1 1 Johan den Dunnen
00248453 Fam5Pat1 PubMed: Dieterich 2013 2-generation family, 2 affected brothers, unaffected heterozygous carrier parents M yes Morocco - - - - - arthrogryposis see paper; …, extension contractures knees; congenital hip dislocation, flexion contractures fingers III-V; talus, talus valgus or varus; short neck; diminished muscle mass, central tongue atrophy; no pterygia; normal ultra-sound, intrauterine growth retardation, born at term; moderate lipid storage unaffected muscle ECEL1 ECEL1 1 2 Johan den Dunnen
00248454 Fam5Pat2 PubMed: Dieterich 2013 - M yes Morocco - - - - - arthrogryposis see paper; …, extension contractures knees; congenital hip dislocation, flexion contractures fingers III-V; talus, talus valgus or varus; short neck; diminished muscle mass, central tongue atrophy; no pterygia; normal ultra-sound, intrauterine growth retardation, born at term ECEL1 ECEL1 1 1 Johan den Dunnen
00248455 Fam6Pat1 PubMed: Dieterich 2013 2-generation family, 1 affected, unaffected heterozygous carrier parents M yes Lebanon - - - - - arthrogryposis see paper; …, extension contractures knees; congenital hip dislocation, flexion contractures fingers III-V; talus, talus valgus or varus; short neck; diminished muscle mass, central tongue atrophy; no pterygia ECEL1 ECEL1 1 1 Johan den Dunnen
00248458 Fam1Pat1 PubMed: Shaheen 2014 4-generation family, 4 affected (3F, M), unaffected heterozygous carrier parents - yes Saudi Arabia - - - - - arthrogryposis see paper; …, extension contractures knees; limited extension contractures fingers and toes with flexion deformity; scoliosis, camptodactyly hands; adducted thumbs, mild adducted wrist; limited hip extension; calcaneovalgus; ptosis, strabismus ECEL1 ECEL1 1 4 Johan den Dunnen
00248459 Fam1Pat2 PubMed: Shaheen 2014 - - yes Saudi Arabia - - - - - arthrogryposis see paper; …, extension contractures knees; limited extension contractures fingers and toes with flexion deformity; scoliosis, camptodactyly hands; adducted thumbs, mild adducted wrist; limited hip extension; calcaneovalgus; ptosis, strabismus ECEL1 ECEL1 1 1 Johan den Dunnen
00248460 Fam1Pat3 PubMed: Shaheen 2014 - - yes Saudi Arabia - - - - - arthrogryposis see paper; …, extension contractures knees; limited extension contractures fingers and toes with flexion deformity; scoliosis, camptodactyly hands; adducted thumbs, mild adducted wrist; limited hip extension; calcaneovalgus; ptosis, strabismus; normal pregnancy, born at term ECEL1 ECEL1 1 1 Johan den Dunnen
00248461 Fam1Pat4 PubMed: Shaheen 2014 - - yes Saudi Arabia - - - - - arthrogryposis see paper; …, extension contractures knees; limited extension contractures fingers and toes with flexion deformity; scoliosis, camptodactyly hands; adducted thumbs, mild adducted wrist; limited hip extension; calcaneovalgus; ptosis, strabismus ECEL1 ECEL1 1 1 Johan den Dunnen
00248462 Fam2Pat1 PubMed: Shaheen 2014 5-generation family, 2 affected (F, M), unaffected heterozygous carrier parents - yes Egypt Upper Egypt - - - - arthrogryposis see paper; …, extension contractures knees; limited extension contractures fingers and toes with flexion deformity; scoliosis, camptodactyly hands; adducted thumbs, mild adducted wrist; limited hip extension; calcaneovalgus; ptosis, strabismus; reduced fetal movement, abnormal position ECEL1 ECEL1 1 2 Johan den Dunnen
00248463 Fam2Pat2 PubMed: Shaheen 2014 - - yes Egypt Upper Egypt - - - - arthrogryposis see paper; …, extension contractures knees; limited extension contractures fingers and toes with flexion deformity; scoliosis, camptodactyly hands; adducted thumbs, mild adducted wrist; limited hip extension; calcaneovalgus; ptosis, strabismus; reduced fetal movement ECEL1 ECEL1 1 1 Johan den Dunnen
00248464 Fam3Pat1 PubMed: Shaheen 2014 4-generation family, 3 affected (2F, M), unaffected heterozygous carrier parents - yes Saudi Arabia Saudi - - - - arthrogryposis see paper; …, extension contractures knees; limited extension contractures fingers and toes with flexion deformity; scoliosis, camptodactyly hands; adducted thumbs, mild adducted wrist; limited hip extension; calcaneovalgus; ptosis, strabismus; breech presentation, C‐section, arthrogryposis multiplexa congenita at birth ECEL1 ECEL1 1 3 Johan den Dunnen
00248465 Fam3Pat2 PubMed: Shaheen 2014 - - yes Saudi Arabia Saudi - - - - arthrogryposis see paper; …, extension contractures knees; limited extension contractures fingers and toes with flexion deformity; scoliosis, camptodactyly hands; adducted thumbs, mild adducted wrist; limited hip extension; calcaneovalgus; ptosis, strabismus; arthrogryposis multiplexa congenita at birth ECEL1 ECEL1 1 1 Johan den Dunnen
00248466 Fam3Pat3 PubMed: Shaheen 2014 - - yes Saudi Arabia Saudi - - - - arthrogryposis see paper; …, extension contractures knees; limited extension contractures fingers and toes with flexion deformity; scoliosis, camptodactyly hands; adducted thumbs, mild adducted wrist; limited hip extension; calcaneovalgus; ptosis, strabismus; arthrogryposis multiplexa congenita at birth ECEL1 ECEL1 1 1 Johan den Dunnen
00248467 Fam1Pat1 PubMed: Barnett 2014 2-generation family, 2 affected (F, M), unaffected heterozygous carrier parents - no Australia;Philippines white Australian;Filipino - - - - arthrogryposis see paper; …, extension contractures hips, dislocatable hips, extension contractures knees, adducted thumbs, stiff wrists, camptodactyly, clubfoot, bilateral ptosis, delayed motor milestones, multiple pterygia; noraml ultra-sound, normal fetal movement, breech presentation; 41wGA-C‐section, birth weight 3.8 kg ECEL1 ECEL1 2 2 Johan den Dunnen
00248468 Fam1Pat2 PubMed: Barnett 2014 - - no Australia;Philippines white Australian;Filipino - - - - arthrogryposis see paper; …, extension contractures hips, dislocatable hips, extension contractures knees, adducted thumbs, stiff wrists, camptodactyly, clubfoot, bilateral ptosis, delayed motor milestones, multiple pterygia; 19wGA-arthrogryposis multiplexa congenita on ultra-sound, abnormal posturing limbs, no movement in knees, clubfoot, hands in clenched position, born at term, birth weight 3.5 kg ECEL1 ECEL1 2 1 Johan den Dunnen
00265380 FamAPatII1 PubMed: Bryen 2019, Journal: Bryen 2019, PubMed: Ravenscroft 2020, Journal: Ravenscroft 2020 Terminated pregnancy at 26 weeks gestation F no Australia white 00y00m00d00h - - none arthrogryposis, MYOP Arthrogryposis – terminated 26/40 Bilateral joint contractures of the upper limbs involving the elbows, wrists and fingers; progression with the appearance of bilateral talipes and involvement of both lower limbs. Overall clinical picture c/w (distal) arthrogryposis with likely primary fetal muscle abnormality - TTN 5 1 Sandra Cooper
00265381 FamCPatII1 PubMed: Bryen 2019, Journal: Bryen 2019 - M no Australia white >02y - - - arthrogryposis, MYOP Presented postnatally with generalized hypotonia, feeding difficulties and arythrogryposis, predominantly proximal with ulnar deviation at the wrists. - TTN 5 1 Sandra Cooper
00265382 FamDPatII1 PubMed: Bryen 2019, Journal: Bryen 2019 - M no United States white >13y - - - arthrogryposis, MYOP presented with arthrogryposis, axial weakness and internal nuclei on biopsy - TTN 5 1 Sandra Cooper
00265383 FamEPatII1 PubMed: Bryen 2019, Journal: Bryen 2019 - M no Denmark white >22y - - - arthrogryposis, MYOP Presented at birth with hypotonia and arthrogryposis multiplex congenita. Age 22 yr - Wheelchair user with some support function in left leg. Face long/asymmetric, Normal facialis/extraorbital muscles, high palate, neckflaxion almost 0. Paraspinal/abdominal 0. Ul prox 2 (MRC 0-10), Ul wrist 5, fingers 6, LLprox 2, knee 3, LLdist 5. Contractures elbow, wrist, fingers, knee, ankles (hip surgery). - TTN 5 1 Sandra Cooper
00265384 FamFPatII1 PubMed: Bryen 2019, Journal: Bryen 2019 - M no Belgium white >30y - - - arthrogryposis, MYOP Delayed motor milestones. General hypotonia; muscle weakness in proximal and distal upper limbs and in distal lower limbs; scapular winging bilaterally; predominant scapuloperoneal distribution of muscle weakness. rocker bottom deformity, valgus deformity of calcaneus; Orthopedic surgery at ankles (cuboid elongation and transposition of m. posterior peroneus longus) at age 12y. Orthopedic surgery at wrists (transposition of flexorcarpiulnaris to flexorcarpiradialis) at age 12y - TTN 5 2 Sandra Cooper
00265386 FamFPatII2 PubMed: Bryen 2019, Journal: Bryen 2019 - M no Belgium white >35y - - - arthrogryposis, MYOP Presented at birth with multiple joint contractures and reduced muscle bulk. Elongated face. - TTN 5 1 Sandra Cooper
00265387 FamGPatII1 PubMed: Bryen 2019, Journal: Bryen 2019 - F no United States Hispanic >02y - - - arthrogryposis, MYOP Generalized hypotonia (axial is worse) with head lag. When sitting with support tries to grab objects with both hands. Extends both knees. Doesn’t bear weight. Multiple contractures, Required resuscitation including ventilation, compressions, and epinephrine. She was placed on cooling protocol and remained in the NICU for 8 days. Weak suck, later difficulties moving food to the back of her mouth - TTN 5 1 Sandra Cooper
00265700 FamHPatII1 PubMed: Bryen 2019, Journal: Bryen 2019 - F no England white 02y - - - arthrogryposis, MYOP Hypotonia, contractures of fingers, wrists, ankles, elbows, knees, shoulders, hips. Congenital fractures. Severe restrictive lung disease, retrognathia, needing BIPAP support, recurent chest infections. Died at 2 years due to inability to maintain airway. - TTN 5 2 Sandra Cooper
00265701 FamHPatII2 PubMed: Bryen 2019, Journal: Bryen 2019 - F no England white >02y - - - arthrogryposis, MYOP Hypotonia. General developmental delay. NG tube fed. Difficult airway grade 3. Contractures involving fingers, wrists, ankles, elbows, knees, shoulders, hips. Severe restrictive lung disease, retrognathia, needing BIPAP support, recurent chest infections. - TTN 5 1 Sandra Cooper
00315487 Fam2PatII1 PubMed: Ravenscroft 2016, PubMed: Ravenscroft 2020, Journal: Ravenscroft 2020 2-generation family, 1 affected, unaffected non-carrier parents M - Wales;New Zealand European - - - - arthrogryposis see paper; arthrogryposis multiplex congenita; neonatal hypotonia; respiratory distress; bilateral perisylvian polymicrogyria; hand clenching; talipes; micrognathia, ... BICD2 BICD2 1 1 Johan den Dunnen
00315488 Fam1ID22439 PubMed: Ravenscroft 2016, PubMed: Ravenscroft 2020, Journal: Ravenscroft 2020 2-generation family, 1 affected, unaffected non-carrier parents M - Germany - - - - - arthrogryposis see paper; reduced fetal movements; arthrogryposis multiplex congenita; bilateral perisylvian polymicrogyria; cerebellar hypoplasia; hypoplasia corpus callosum; femur fracture; central apnea; talipes; ulnar deviation of finger; single transverse palmian crease, ... BICD2 BICD2 1 1 Johan den Dunnen
00442606 FamPatII1 PubMed: Iyer 2024 2-generation family, 1 affected, unaffected heterozygous carrier parents F - Czech Republic - - - - - arthrogryposis HP:0001371, HP:0003121, HP:0100360, HP:0005750, HP:0009473, HP:0001220, HP:0034671, HP:0003273, HP:0000508, HP:0001561 MYBPC1 MYBPC1 2 1 Barbora Lauerova
00456509 S1 PubMed: Harms 2025 - M yes - - - - - - arthrogryposis Decreased fetal movement [HP:0001558]; Hypotonia [HP:0001252]; Distal amyotrophy [HP:0003693]; Hypokinesia [HP:0002375]; Arthrogryposis multiplex congenita [HP:0002804]; Shoulder flexion contracture [HP:0003044]; Elbow flexion contractures [HP:0002987]; Camptodactyly of finger [HP:0100490]; Hip dysplasia [HP:0001385]; Knee flexion contractures [HP:0006380]; Scoliosis [HP:0002650]; Abnormal facial shape [HP:0001999] COL25A1 COL25A1 1 1 Frederike Leonie Harms
00456510 S2 PubMed: Harms 2025 - M yes - - - - - - arthrogryposis Decreased fetal movement [HP:0001558]; Hypotonia [HP:0001252]; Distal amyotrophy [HP:0003693]; Hypokinesia [HP:0002375]; Arthrogryposis multiplex congenita [HP:0002804]; Shoulder flexion contracture [HP:0003044]; Elbow flexion contractures [HP:0002987]; Camptodactyly of finger [HP:0100490]; Hip dysplasia [HP:0001385]; Knee flexion contractures [HP:0006380]; Scoliosis [HP:0002650]; Ptosis [HP:0000508]; Abnormal facial shape [HP:0001999]; Cryptorchidism [HP:0000028] COL25A1 COL25A1 1 1 Frederike Leonie Harms
00456559 S3 PubMed: Harms 2025 - M no - - 00y03m - - - arthrogryposis Fetal akinesia sequence [HP:0001989]; Neonatal respiratory distress [HP:0002643]; Hypotonia [HP:0001252]; Distal amyotrophy [HP:0003693]; Hypokinesia [HP:0002375]; Arthrogryposis multiplex congenita [HP:0002804]; Shoulder flexion contracture [HP:0003044]; Elbow flexion contractures [HP:0002987]; Wrist flexion contractures [HP:0001239]; Camptodactyly of finger [HP:0100490]; Hip contracture [HP:0003273]; Knee flexion contractures [HP:0006380]; Rocker bottom foot [HP:0001838]; Scoliosis [HP:0002650]; Abnormality of eye movement [HP:0000496]; Abnormal facial shape [HP:0001999] COL25A1 COL25A1 2 1 Frederike Leonie Harms
00467316 Fam1PatIII1 PubMed: Mejlachowicz 2015 3-generation family, 3 affected fetuses (2F, M) F - France - <0d - - - arthrogryposis see paper; ..., deceased-24wg; severe micrognathia, short palpebral fissures, hypertelorism, short neck, large neck, bilateral club foot, flexion elbows/knees, camptodactyly, lethal arthrogryposis multiplex congenita - MAGEL2 1 3 Johan den Dunnen
00467317 Fam1PatIII2 PubMed: Mejlachowicz 2015 fetus F - France - <0d - - - arthrogryposis see paper; ..., deceased-24wg; severe micrognathia, short palpebral fissures, hypertelorism, short neck, large neck, bilateral club foot, flexion elbows/knees, camptodactyly, lethal arthrogryposis multiplex congenita - MAGEL2 1 1 Johan den Dunnen
00467318 Fam1PatIII3 PubMed: Mejlachowicz 2015 fetus M - France - <0d - - - arthrogryposis see paper; ..., deceased-27wg; severe micrognathia, short palpebral fissures, hypertelorism, short neck, large neck, bilateral club foot, flexion elbows/knees, camptodactyly, lethal arthrogryposis multiplex congenita - MAGEL2 1 1 Johan den Dunnen
00467319 Fam2PatII1 PubMed: Mejlachowicz 2015 2-generation family, 1 affected, unaffected non-carrier parents F - France - 2d - - - arthrogryposis see paper; ..., 2d-deceased; birth microretrognathia, short neck, bilateral camptodactyly third and fourth fingers, bilateral club foot, severe hypotonia, respiratory distress MAGEL2 MAGEL2 2 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.