All individuals with variants in gene SOX5

32 entries on 1 page. Showing entries 1 - 32.
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00039404 - PubMed: Bosch 2016, Journal: Bosch 2016 - M no Netherlands - - - - - CVI, ID see paper; ... 1 1 Danielle Bosch
00117535 Pat15 PubMed: Lamb 2012 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - ? weight 25th-50th, height 75th, OFC 10th; moderate developmental delay; 3y-first words; autistic, hyperactivity; hypotonia; no seizures; short/thick corpus callosum; myopia; strabismus; no dysmorphic features; normal hands/feet; normal back/spine; congenital torticolis; no heart defects; no genital abnormalities; feeding difficulties 1 1 Blake Ballif
00117536 Pat8 PubMed: Lamb 2012 2-generation family, 1 affected, unaffected parents M - - - - - - - ? weight >97th, height 90th, OFC 50th; slight motor delays, intellectual disability (IQ 60); 4y6m-first words; attention deficit-hyperactivity disorder, behavior problems in school; slight hypotonia; no seizures; strabismus; dysmorphic features, brachycephaly, frontal bossing, displaced occipital hair whorl, short philtrum, crowded teeth, rounded lower facies; flat feet; normal back/spine; genu valgum, outturned ankles; no heart defects; no genital abnormalitiesonia; brachycephaly; frontal bossing; displaced occipital hair whorl; short philtrum; crowded teeth; rounded lower facies; flat feet; genu valgum; outturned ankles; mother with intellectual disability; 1 1 Blake Ballif
00117537 Pat7 PubMed: Lamb 2012 2-generation family, 1 affected, unaffected parents F - - - - - - - ? weight 72nd, height 71st, OFC NS; motor delays, Bayley III scores (30m): composite 16th percentile, motor 12th; speech delay, Bayley III language score 6th percentile; no behavior problems; no hypotonia; no seizures; left intermittent esotropia, astigmatism; no dysmorphic features, epicanthal folds; normal hands/feet; normal back/spine; no heart defects; hypopigmentation of labia 1 1 Blake Ballif
00117538 Pat4 PubMed: Lamb 2012 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - ? weight 3rd-10th, height 25th, OFC 3rd; moderate-severe intellectual disability; no speech, had 2 words at 5-6y but lost them; stereotypies (rocking, hand motions), avoids eye contact, occasional aggression; no hypotonia; no seizures; no brain malformations; strabismus; dysmorphic features, narrowed forehead, thick, hemmed ears; overlapping toes; normal back/spine; no heart defects; no genital abnormalities; thyroglossal duct cyst 1 1 Blake Ballif
00117539 Pat3 PubMed: Lamb 2012 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - ? weight 10th, height 10th, OFC 10th; intellectual disability (IQ 45-70); 2y-first word; 4y-2 word phrases; pervasive developmental delay/atypical autism, aggressive, mood instability; hypotonia face/lower limbs; no seizures; no brain malformations; dyspraxia, awkward gait; no ophthalmologic features; dysmorphic features, small, simple ears, low nasal bridge; high arched feet; butterfly vertebrae of thoracic spine; mild scoliosis; no heart defects; no genital abnormalities; chronic constipation 1 1 Blake Ballif
00117540 Pat2 PubMed: Lamb 2012 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - ? weight 3rd, height 10th-25th, OFC <2nd (45.4 cm); global developmental disorder, 4y-functioning at 12-24m level; severe mixed receptive/expressive language disorder; aggressive, stereotypies (rocking, hand flapping, spinning, clapping, self injury), severe hyperkinesis; no hypotonia; seizures; mild periventricular leukomalacia; poor articulation; intermittent exotropia; no dysmorphic features; normal hands/feet; normal back/spine; no heart defects; no genital abnormalities 1 1 Blake Ballif
00180150 29286531-Pat02 PubMed: Tumienė 2018 - - - (Slovenia) - - - - - ? (Pharmacoresistant ) epilepsy (HP:0001250), infantile spasms (HP:0012469), cerebral palsy (HP:0100021), congenital microcephaly (HP:0011451), severe global developmental delay (HP:0011344). Head MRI: delayed myelination (HP:0002188), thin corpus callosum (HP:0002079), facial dysmorphism (HP:0001999). 1 1 Johan den Dunnen
00377151 181007 - - M no Germany - - - - - LAMSHF Microcephaly, Abnormality of the pinna, Macrotia, Strabismus, Abnormal conjugate eye movement, Global developmental delay, Short foot, Aplasia/hypoplasia involving bones of the hand, Aplasia/Hypoplasia involving bones of the feet, Aplasia/Hypoplasia of the cerebrum, Neurodevelopmental delay, Decreased head circumference, Small hand 1 1 Andreas Laner
00386541 187022 - - F no Germany - - - - - LAMSHF EEG abnormality, Delayed speech and language development, Speech apraxia, Expressive language delay, Receptive language delay, Impaired convergence, Neurodevelopmental delay 1 1 Andreas Laner
00434861 CMC32 PubMed: Gostain 2020 - M - Canada - - - - - ? Lamb-Shaffer syndrome 1 1 Johan den Dunnen
00444319 Pat90 PubMed: Moon 2021 - - - Korea - - - - - retinal disease - 1 1 Johan den Dunnen
00447892 282585 - - F no Germany - - - - - LAMSHF Neurodevelopmental delay, Motor delay, Hypotonia, Elevated circulating creatine kinase concentration, Facial asymmetry 1 1 Andreas Laner
00447894 Pat5 PubMed: Lamb 2012 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - NDD weight 50th-75th, height 50th-75th, OFC 50th-75th; mild global delays, IQ testing borderline to mild intellectual disability,; low-average nonverbal intelligence; speech delay; no behavior problems; seizures; no brain malformations; articulation difficulties; myopia; dysmorphic features, crowded teeth, high/narrow palate, micrognathia; normal hands/feet; normal back/spine; no heart defects; no genital abnormalities 2 1 Johan den Dunnen
00447895 Pat1 PubMed: Lamb 2012 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - NDD hemihypertrophy; weight 75th-90th, height 25th-50th, OFC 25th; developmental delay/intellectual disability; moderate-severe speech delay; pervasive developmental delay, self injury; no hypotonia; no seizures; clumsiness; left facial drooping; no ophthalmologic features; dysmorphic features, flat occiput, frontal bossing, crumpled ear lobule, broad/low nasal bridge, upturned nose with bulbous tip, accentuated, prominent philtral ridges, prominent/full lips; flat feet; scapular winging; heart murmur; shawl scrotum; cryptorchidism; hepatomegaly 1 1 Johan den Dunnen
00447896 Pat6 PubMed: Lamb 2012 2-generation family, 2 affected and carrier mother M - - - - - - - NDD failure to thrive (resolved); weight <3rd (22m), height NS, OFC 25th (22m); moderate global developmental delay; severe speech delay; 4y-no words; no behavior problems; truncal hypotonia; no seizures; prominent subarachnoid space; blue sclerae; strabismus; no dysmorphic features, mild frontal bossing; normal hands/feet; normal back/spine; no heart defects; no genital abnormalities; mother short stature, borderline microcephaly, moderate intellectual disability, 8y-did not speak 1 2 Johan den Dunnen
00447897 sister PubMed: Lamb 2012 sister F - - - - - - - NDD moderate global developmental delay, 22m-walk, strabismus, nonverbal 1 1 Johan den Dunnen
00447898 Pat9 PubMed: Lamb 2012 2-generation family, 1 affected, unaffected carrier father/grandmother F - - - - - - - NDD weight <3rd, height <3rd, OFC 50th; early motor delays, intellectual development average to advanced; no speech delay; no behavior problems; hypotonia; no seizures; poor balance; decreased strength; amblyopia; dysmorphic features, frontal bossing, deep-set eyes, hypoplastic; normal hands/feet; lumbar scoliosis; reduced muscle bulk; atrioventricular canal; secundum atrial septal defect; coarctation of aorta, patent ductus arteriosus; no genital abnormalities; G-tube for feeding 1 1 Johan den Dunnen
00447899 Pat10 PubMed: Lamb 2012 2-generation family, 1 affected, unaffected parents F - - - - - - - NDD weight 10th, height 10th, OFC 3rd; moderate intellectual disability; greatest delays in expressive speech; 6y-no words and 5 signs; hyperactivity, anxiety; no hypotonia; no seizures; mild ventriculomegaly with prominent cortical sulci, suggesting volume loss; brisk deep tendon reflexes; no ophthalmologic features; dysmorphic features, metopic ridge, bitemporal grooves, short, upslanted palpebral fissures, prominent, boxy nasal tip, alar hypoplasia; mild ulnar drift of hands; bilateral thenar hypoplasia; adducted thumbs; 2 parallel thenar creases; progressive toe contractures; progressive valgus great toe deformity; normal back/spine; early metopic fusion; no heart defects; no genital abnormalities; father borderline microcpehalic, otherwise non-contributory 1 1 Johan den Dunnen
00447900 Pat11 PubMed: Lamb 2012 2-generation family, 1 affected, unaffected parents F - - - - - - - NDD weight 34th (22m), height 4th (22m), OFC 29th (22m); global developmental delay, severe intellectual disability, 4y-walk; no words yet; hand twirling but social; hypotonia; no seizures; hypoplastic corpus callosum; mild cerebral volume loss; mild prominence of lateral ventricles; no ophthalmologic features; dysmorphic features, mild frontal bossing, positional plagiocephaly, epicanthal folds, small glabellar hemangioma, midface hypoplasia, short philtrum; 1-2 syndactyly on right hand; medially deviated and broad right index finger; narrow left palm; hypoplastic right thenar eminence; limited motion of fingers; right clubfoot; congenital fusion c5-c7 causing torticollis; hypermobile; lack of muscle control of right face at birth; ventricular septal defect; no genital abnormalities; alternating constipation/diarrhea; eczema; mother hiatal hernia, congenitally “pigeon-toed”; paternal family history of clubfoot, ventricular septal defect 1 1 Johan den Dunnen
00447901 Pat12 PubMed: Lamb 2012 2-generation family, 1 affected, unaffected parents F - - - - - - - NDD weight 3rd-5th, height 10th-25th, OFC <3rd (38.1 cm); moderate-severe developmental delay; no hypotonia; seizures; intermittent adducted thumbs; constant tongue thrust; blue sclerae; dysmorphic features, sparse hair, low-set ears, familial darwinian tubercles, small ear lobules, soft cartilage, minimal synophrys, upslanting palpebral fissures, high/wide nasal bridge, square/tubular nose, long columella, broad nasal tip, short philtrum, broad and short uvula; arachnodactyly; hyperconvex nails; deep plantar creases; minimal clinodactyly of second and third toes; normal back/spine; hip laxity; no heart defects; anteriorly placed anus; deep sacral cleft with sacral dimple; hypoplastic and inverted nipples 1 1 Johan den Dunnen
00447902 Pat13 PubMed: Lamb 2012 2-generation family, 1 affected, unaffected parents M - - - - - - - NDD weight 49th, height 53rd, OFC −1 SD; mild intellectual disability, Peabody Picture Vocabulary Test receptive score 65 (−2.3 SD); nonverbal, expressive speech disorder; attention deficit-hyperactivity disorder; hypotonia; no seizures; Chiari I malformation; speech dyspraxia; moderate-severe bilateral sensorineural hearing loss; no ophthalmologic features; dysmorphic features, mild hair upsweep, protruding and large ears, small nares and alae, downturned upper lip, straight lower lip, malpositioned teeth; single right palmar crease; prominent fingertip pads; short second toes; scoliosis/kyphosis; prominent sternum; no heart defects; no genital abnormalities; chronic diarrhea; low-set nipples 1 1 Johan den Dunnen
00447903 Pat14 PubMed: Lamb 2012 2-generation family, 1 affected, unaffected parents F - - - - - - - NDD weight 25th, height 10th-25th, OFC 75th; developmental delay/intellectual disability; speech delay; compulsive, ritualistic, distractible; severe hypotonia; no seizures; strabismus; optic nerve hypoplasia; mild dysmorphic features, low facial tone, prominent nasal bridge, small alae, broad nasal tip, midline nasal dimple, narrow palate; short fingers & metacarpals; short toes; deviated second fingers; short thumbs; broad great toes; cone-shaped epiphyses on phalanges; normal back/spine; slight arrhythmia; no genital abnormalities 1 1 Johan den Dunnen
00447904 Pat16 PubMed: Lamb 2012 2-generation family, 1 affected, carrier father F - - - - - - - NDD weight <3rd (6.72 kg), height <3rd (65 cm), OFC 3rd-5th; developmental delay/intellectual disability; no hypotonia; no seizures; no ophthalmologic features; dysmorphic features, midface hypoplasia; normal hands/feet; normal back/spine; rhizomelia; no heart defects; no genital abnormalities; gastroesophogeal reflux disease; laryngomalacia; eczema; father low weight (111 lb, 5′6″), short digits, poor dentition, Asperger-like features, recurrent fevers 1 1 Johan den Dunnen
00447905 - PubMed: Lamb 2012 patient - - - - - - - - NDD developmental delay, microcephaly 1 1 Johan den Dunnen
00447906 - PubMed: Lamb 2012 patient - - - - - - - - NDD pituitary dwarfism, lack of coordination, pervasive developmental delay, attention deficit-hyperactivity disorder, optic nerve abnormality 1 1 Johan den Dunnen
00447907 Pat1 PubMed: Schanze 2013 2-generation family, 1 affected, unaffected non-carrier parents M no Germany - - - - - ID see paper; ..., prenatal nuchal oedema, amniocentesis; birth 41w, height 3-10th, OFC 3-10th; moderate motor developmental delay, 21m-walk; mild intellectual disability; delayed speech, 24m-first words; no behavioural anomalies; mild hypotonia; no seizures; down-slanting palpebral fissures, epicanthal folds, broad nasal bridge, upturned nose, bulbous nasal tip, prominent philtral ridges, open mouth appearance; flat feet; diastasis recti; strabismus 1 1 Johan den Dunnen
00447908 Pat2 PubMed: Schanze 2013 2-generation family, 1 affected, unaffected non-carrier parents M - United Kingdom (Great Britain) - - - - - ID see paper; ..., birth height 50th, weight 50th, OFC 25th; moderate motor developmental delay, 17m-walk; mild-moderate intellectual disability; delayed speech, 4y9m-4 words; behavioural anomalies; no hypotonia; no seizures; unsteady gait; sleep disorder; high forehead, down-slanting palpebral fissures, chubby cheeks, notched nares, prominent philtral ridges, open mouth appearance, thin upper lip, drooping lower lip, pointed chin, prominent upper median incisors; 5th finger clinodactyly; chronic constipation; myopia, strabismus; episodes of bronchiolitis 1 1 Johan den Dunnen
00447909 Pat3 PubMed: Schanze 2013 2-generation family, 1 affected F - United Kingdom (Great Britain) - - - - - ID see paper; ..., birth height 4th, weight 30th; moderate motor developmental delay, 20m-walk; mild intellectual disability; delayed speech, 3y-first words; no behavioural anomalies; no hypotonia; no seizures; short 3rd phalanges, brachydactyly 2-5th toes, narrow chest, flaring of anterior ribs; intermittent chronic constipation; IgA deficiency 1 1 Johan den Dunnen
00447910 patient PubMed: Nesbitt 2015 2-generation family, 1 affected, unaffected non-carrier parents F - United States - - - - - ID see paper; ..., intellectual disability (IQ50), moderate developmental delay; speech delay, 2y-first word; delayed motor development, 23m-walk; bilateral optic atrophy; anxiety; moderate hypotonia; no seizures; prominent maxilla, midline tongue groove, narrow palate, overcrowded teeth, small lower jar, 2-3 toe syndactylyl bilaterally; thoracic kyphoscoliosis, lumbar lordosis, and pectus carinatum with spinal fusion; non-progressive bilateral optic atrophy, exotropia and moderate myopia; infantile gastro-esophageal reflux with poor feeding, mild mitral regurgitation 1 1 Johan den Dunnen
00457833 - - - M - - (not applicable) white - - - - ID HP:0001249 1 1 Marketa Wayhelova
00459793 313620 - - F - ? (unknown) - - - - - LAMSHF Global developmental delay, Hypotonia, Joint hypermobility, Low-set ears, Protruding ear, Synophrys 1 1 Andreas Laner
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