Phenotypes for disease #00026 (arthrogryposis (arthrogryposis))

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0000010159 - Familial, autosomal recessive - - - - - multiple pterigia, arthrogryposis, pulmonary hypoplasia, hydrops fetalis - Hana Lango-Allen 00011457
0000059346 - Familial - - - - - myogenic arthrogryposis multiplex congenita (AMC) - Johan den Dunnen 00079622
0000059352 - Familial, autosomal recessive - - - 1d - autosomal recessive form of myogenic arthrogryposis multiplex congenita (AMC) - Zohreh Fattahi 00079628
0000061363 - Unknown - - - - - - - Andreas Janecke 00081716
0000073480 - Familial, autosomal recessive - - - - - Arthrogryposis multiplex congenita, hydrops fetalis - Karen Stals 00095045
0000105575 distal arthrogryposis Familial, autosomal recessive - - - - - see paper; ..., distal arthrogryposis; abnormal facial shape; scoliosis; respiratory insufficiency; contractures joints upper limbs; contractures joints lower limbs - Mark Davis 00132791
0000127238 prenatal Unknown - - - - - Hypokinesia, fixed fingers, polyhydramnios - Andreas Laner 00154502
0000128786 Fetal akinesia deformation sequence Familial, autosomal recessive - Multiple pterygium syndrome, lethal type - - - 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) - Florian Erger 00163650
0000161976 arthrogryposis Unknown - - - - - - - Tom Winder 00213517
0000161977 arthrogryposis Unknown - - - - - - - Tom Winder 00213518
0000187325 severe arthrogryposis multiplex congenita Familial, autosomal recessive - LCCS-9 - - - see paper; … - Johan den Dunnen 00248327
0000187326 severe arthrogryposis multiplex congenita Familial, autosomal recessive - LCCS-9 - - - see paper; … - Johan den Dunnen 00248328
0000187327 severe arthrogryposis multiplex congenita Familial, autosomal recessive - LCCS-9 - - - see paper; … - Johan den Dunnen 00248329
0000187337 arthrogryposis multiplex congenit Familial, autosomal recessive <00y00m00d DA-5d - - - see paper; ... - Johan den Dunnen 00248340
0000187427 distal arthrogryposis Familial, autosomal recessive - DA-5D - 1d - 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 - Johan den Dunnen 00248436
0000187428 distal arthrogryposis Familial, autosomal recessive - DA-5D - 1d - 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 - Johan den Dunnen 00248437
0000187429 distal arthrogryposis Familial, autosomal recessive - DA-5D - 1d - 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 - Johan den Dunnen 00248438
0000187430 distal arthrogryposis Familial, autosomal recessive - DA-5D - 1d - 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 - Johan den Dunnen 00248439
0000187431 distal arthrogryposis Familial, autosomal recessive - DA-5D - 1d - 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 - Johan den Dunnen 00248440
0000187432 distal arthrogryposis Familial, autosomal recessive - DA-5D - 1d - 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 - Johan den Dunnen 00248441
0000187433 distal arthrogryposis Familial, autosomal recessive - DA-5D - 1d - 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 - Johan den Dunnen 00248442
0000187434 distal arthrogryposis Familial, autosomal recessive - DA-5D - 1d - 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 - Johan den Dunnen 00248443
0000187435 distal arthrogryposis Familial, autosomal recessive - DA-5D - 1d - 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 - Johan den Dunnen 00248444
0000187436 distal arthrogryposis Familial, autosomal recessive - DA-5D - 1d - 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 - Johan den Dunnen 00248445
0000187437 distal arthrogryposis Familial, autosomal recessive - DA-5D - 1d - 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 - Johan den Dunnen 00248446
0000187438 distal arthrogryposis Familial, autosomal recessive - DA-5D - 1d - 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 - Johan den Dunnen 00248447
0000187439 distal arthrogryposis Familial, autosomal recessive - DA-5D - 1d - 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 - Johan den Dunnen 00248448
0000187440 distal arthrogryposis Familial, autosomal recessive - DA-5D - 1d - 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 - Johan den Dunnen 00248449
0000187441 distal arthrogryposis Familial, autosomal recessive - DA-5D - 1d - 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 - Johan den Dunnen 00248450
0000187442 distal arthrogryposis Familial, autosomal recessive - DA-5D - 1d - 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 - Johan den Dunnen 00248451
0000187443 distal arthrogryposis Familial, autosomal recessive - DA-5D - 1d - 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 - Johan den Dunnen 00248452
0000187444 distal arthrogryposis Familial, autosomal recessive - DA-5D - 1d - 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 - Johan den Dunnen 00248453
0000187445 distal arthrogryposis Familial, autosomal recessive - DA-5D - 1d - 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 - Johan den Dunnen 00248454
0000187446 distal arthrogryposis Familial, autosomal recessive - DA-5D - - - 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 - Johan den Dunnen 00248455
0000187449 distal arthrogryposis Familial, autosomal recessive - DA-5D - 1d - 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 - Johan den Dunnen 00248458
0000187450 distal arthrogryposis Familial, autosomal recessive - DA-5D - <19y - 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 - Johan den Dunnen 00248459
0000187451 distal arthrogryposis Familial, autosomal recessive - DA-5D - <17y - 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 - Johan den Dunnen 00248460
0000187452 distal arthrogryposis Familial, autosomal recessive - DA-5D - <6y - 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 - Johan den Dunnen 00248461
0000187453 distal arthrogryposis Familial, autosomal recessive - DA-5D - 1d - 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 - Johan den Dunnen 00248462
0000187454 distal arthrogryposis Familial, autosomal recessive - DA-5D - 1d - 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 - Johan den Dunnen 00248463
0000187455 distal arthrogryposis Familial, autosomal recessive - DA-5D - 1d - 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 - Johan den Dunnen 00248464
0000187456 distal arthrogryposis Familial, autosomal recessive - DA-5D - 1d - 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 - Johan den Dunnen 00248465
0000187457 distal arthrogryposis Familial, autosomal recessive - DA-5D - 1d - 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 - Johan den Dunnen 00248466
0000187458 distal arthrogryposis Familial, autosomal recessive - DA-5D - 1d - 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 - Johan den Dunnen 00248467
0000187459 distal arthrogryposis Familial, autosomal recessive - DA-5D - 1d - 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 - Johan den Dunnen 00248468
0000203172 arthrogryposis multiplex Familial, autosomal recessive 00y00m00d00h Congenital titinopathy - 00y00m00d00h - 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 - Sandra Cooper 00265380
0000203173 arthrogryposis Familial, autosomal recessive 01y Congenital titinopathy 02y 00y00m00d00h - Presented postnatally with generalized hypotonia, feeding difficulties and arythrogryposis, predominantly proximal with ulnar deviation at the wrists. - Sandra Cooper 00265381
0000203174 arthrogryposis Familial, autosomal recessive 07y Congenital titinopathy 13y 00y00m00d00h - presented with arthrogryposis, axial weakness and internal nuclei on biopsy - Sandra Cooper 00265382
0000203175 arthrogryposis Familial, autosomal recessive 22y Congenital titinopathy - 00y00m00d00h - 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). - Sandra Cooper 00265383
0000203176 arthrogryposis and hypotonia Familial, autosomal recessive 30y Congenital titinopathy - 00y00m00d00h - 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 - Sandra Cooper 00265384
0000203178 arthrogryposis Familial, autosomal recessive 35y Congenital titinopathy - 00y00m00d00h - Presented at birth with multiple joint contractures and reduced muscle bulk. Elongated face. - Sandra Cooper 00265386
0000203179 arthrogryposis and hypotonia Familial, autosomal recessive 00y14m Congenital titinopathy - 00y00m00d00h - 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 - Sandra Cooper 00265387
0000203485 arthrogryposis Familial, autosomal recessive 00y18m Congenital titinopathy - 00y00m00d00h - 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. - Sandra Cooper 00265700
0000203486 arthrogryposis multiplex Familial, autosomal recessive 02y Congenital titinopathy - 00y00m00d00h - 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. - Sandra Cooper 00265701
0000239238 arthrogryposis multiplex congenita Isolated (sporadic) - - - - - see paper; arthrogryposis multiplex congenita; neonatal hypotonia; respiratory distress; bilateral perisylvian polymicrogyria; hand clenching; talipes; micrognathia, ... - Johan den Dunnen 00315487
0000239239 arthrogryposis multiplex congenita Isolated (sporadic) - - - - - 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, ... - Johan den Dunnen 00315488
0000333031 Distal arthrogryposis type I Familial, autosomal recessive 0y-10y Distal arthrogryposis type I - 00y 0y HP:0001371, HP:0003121, HP:0100360, HP:0005750, HP:0009473, HP:0001220, HP:0034671, HP:0003273, HP:0000508, HP:0001561 - Barbora Lauerova 00442606
0000345017 - Familial, autosomal recessive 08y - - - - 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] - Frederike Leonie Harms 00456509
0000345018 - Familial, autosomal recessive 06y - - - - 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] - Frederike Leonie Harms 00456510
0000345067 - Familial, autosomal recessive 00y03m - - - - 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] - Frederike Leonie Harms 00456559
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