Phenotypes for disease #05850 (WITKOS (Witteveen-Kolk syndrome (WITKOS), 15q24 del/dup syndrome), OMIM:613406)

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0000327840 hypogonadotropic hypogonadism, Kallman syndrome, congenital myopathy Witteveen-Kolk syndrome (OMIM #613406) Motor delay (HP:0001270), Delayed speech and language development (HP:0000750), Decreased head circumference (HP:0040195), Hypotonia (HP:0001252), Feeding difficulties (HP:0011968), Intellectual disability, mild (HP:0001256), Short stature (HP:0004322), Abnormal facial shape (HP:0001999), Myopathy (HP:0003198), Hypogonadotropic hypogonadism (HP:0000044), Primary amenorrhea (HP:0000786), Hypothyroidism (HP:0000821), Gowers sign (HP:0003391), EMG abnormality (HP:0003457), High forehead (HP:0000348), Pointed chin (HP:0000307), (Small hand HP:0200055), Downslanted palpebral fissures (HP:0000494) Familial, autosomal dominant 28y 37y 10y-17y Primary amenorrhea (HP:0000786), Hypogonadotropic hypogonadism (HP:0000044) Robert H Field 00437935
0000327848 Witteveen-Kolk syndrome WITKOS see paper; ... Isolated (sporadic) 07y - - - Johan den Dunnen 00437941
0000327849 - WITKOS see paper; ..., motor delay, speech delay, scoliosis, distinctive craniofacial features (prominent forehead, epicanthus, depressed nasal bridge, narrow mouth, prognathism, malar flattening, oligodontia), dry skin; family history dry skin mother, missing teeth paternal grandmother Isolated (sporadic) 17y - - - Johan den Dunnen 00437942
0000327852 - WITKOS see paper; ..., intellectual disability, short stature, dysmorphic facial features, long face, prominent forehead, smooth-long philtrum, broad eyebrows, retrognathia, malformed ears, MRI brain anomalies, no epilepsy, autism spectrum disorder, no digital anomaly, no microcephaly, no joint laxity Unknown 07y - - - Johan den Dunnen 00437945
0000327853 - WITKOS see paper; ..., juvenile glaucoma secondary to increased corneal diameters, facial features characteristic of Witteveen-Kolk syndrome (broad, tall forehead, small mouth, thin upper lip, pointed chin), born with cleft palate, mild speech delay, developmental delay Unknown 02y-07y - - - Johan den Dunnen 00437946
0000327854 - WITKOS see paper; ... Isolated (sporadic) 03y - - - Johan den Dunnen 00437947
0000327855 - WITKOS see paper; ..., birth 40w, weight 2.75 (-1.5); no hypotonia; feeding difficulties; NG feeding; moderate intellectual disability; global developmental delay; language delay; 12m-sit unassisted; 24m-first steps; neurological hypotonia; scoliosis, strabismus, ataxic gait; MRI brain cerebellar atrophy; donwslanted pf; broad nasal tip, short nose; narrow mouth; infra-orbital crease; frontal bossing; vomiting, compensatory scoliosis, strabismus Isolated (sporadic) - - 1y6m - Johan den Dunnen 00437948
0000327856 - WITKOS see paper; ..., birth 37w, weight 2.097 (-2); hypotonia; feeding difficulties; NG feeding; moderate/severe intellectual disability; global developmental delay; language delay, 4ylanguage delay, 3y-first words; 5y-first steps; possible autism spectrum disorder; neurological hypotonia; ?epilepsy, EEG normal; MRI brain ventriculomegaly, ?colpocephaly, foci high signal white matter, dilation lateral ventricles; epicanthus inversus, hypotelorism; narrow mouth; unilateral tag on lobe; high anterior hairline; frontal bossing; generalized hypopigmentation, micrognathia; apnoea, cow's milk protein intolerance, nystagmus secondary to oculocutaneous albinism, Isolated (sporadic) - - 1y3m - Johan den Dunnen 00437949
0000327857 - WITKOS see paper; ..., birth 42w, weight 3.686 (0.6); hypotonia; feeding difficulties; mild intellectual disability; global developmental delay; language delay, 12mlanguage delay, 3y-first words; 21m-first steps; ADHD; neurological hypotonia; ; abnormal facial shape; joint hypermobility Isolated (sporadic) - - 8y4m - Johan den Dunnen 00437950
0000327858 - WITKOS see paper; ..., birth 39w, weight 3.23 (-0.5); hypotonia; feeding difficulties; UTI at 2 weeks, unilateral renal scar; no intellectual disability; global developmental delay; language delay, 2y6mlanguage delay, 3y-first words; 12m-sit unassisted; 18m-first steps; high functioning autism; aggressive behavior, developmental coordination disorder; no neurological hypotonia; ; small nose; small; triangular face, pointed when seen prominent but not pointed chin; broad forehead, mandibular prognathia; constipation, sacral dimple, bilateral little finger clinodactyly, hallux valgus, 2nd toe overrides first and third bilaterally. hirsute on back as baby. pes planus, hypermobile in ankles Isolated (sporadic) - - 13y6m - Johan den Dunnen 00437951
0000327859 - WITKOS see paper; ..., birth 39w, weight 2.55 (-1.9); hypotonia; feeding difficulties; moderate intellectual disability; global developmental delay; language delay, 3y-first words; motor delay; 18m -sit unassisted; 22m-first steps; no psychiatric diagnosis; no neurological hypotonia; no epilepsy; MRI brain no structural abnormality, numerous foci of high T2 signal peritrigonal and frontal lobe bilaterally (nonspecific) ; hypertelorism; prominent nasal bridge; relatively prominent lobes; triangular face. prominent chin. tight curly hair, plagiocephaly.; broad forehead,; mild pectus excavatum. left inguinal hernia (had herniotomy). sacral dimple (normal mri spine). bilateral 5th finger clinodactyly and brachydactyly. toes 3rd / 4th / 5th clinodactyly bilaterally, 2nd toe overrides 3rd bilaterally. tight curly hair, plagiocephaly. echolalia Isolated (sporadic) - - 10y7m - Johan den Dunnen 00437952
0000327860 - WITKOS see paper; ..., birth 42w, weight 3.345 (-0.43); ; global developmental delay; language delay, 3y-first words; 12m-sit unassisted; 2y6m-03y-first steps; no neurological hypotonia; ; thin upper lip vermilion; long philtrum; broad finger, carious teeth, eczema, failure to thrive, mild conductive hearing impairment, obstructive sleep apnoea, short foot, submucous cleft hard palate, bifid uvula Isolated (sporadic) - - 5y5m - Johan den Dunnen 00437953
0000327861 - WITKOS see paper; ..., birth 39w, weight 2.525 (-1.8); no feeding difficulties; global developmental delay; language delay, no first words yet; 6m-sit unassisted; not yet achieved-first steps; neurological hypotonia; ; epicanthus; failure to thrive, plagiocephaly, snhl Isolated (sporadic) - - 8m - Johan den Dunnen 00437954
0000327862 - WITKOS see paper; ..., birth 40w, weight 2.721 (-1.76); feeding difficulties; global developmental delay; language delay; 8m-sit unassisted; 18m-first steps; no neurological hypotonia; ; thin vermilion border; abnormal facial shape; hypermelanotic macule, short foot, short palm, sparse hair Isolated (sporadic) - - 7y3m - Johan den Dunnen 00437955
0000327863 - WITKOS see paper; ..., birth 41w, weight 2.92 (-1.33); feeding difficulties; moderate intellectual disability; global developmental delay; 12m--first words; 9m -sit unassisted; 16m-first steps; hyperactive behaviour; no neurological hypotonia; no epilepsy; MRI brain normal; deeply set eye, epicanthus inversus; uplifted earlobe; flat forehead; sparse scalp hair when young, ongoing difficulties with sucking, chewing and coordination of eating, poor sleep Isolated (sporadic) - - 5y - Johan den Dunnen 00437956
0000327864 - WITKOS see paper; ..., birth 41w, weight 2.891 (-1.39); no feeding difficulties; global developmental delay; 2y6m-sit unassisted; not yet achieved-first steps; no neurological hypotonia; ; downslanted pf, epicanthus; depressed nasal ridge; narrow mouth; abnormality of the palmar creases, aplasia cutis congenita over the scalp vertex, capillary hemangiomas, reduced subcutaneous adipose tissue Isolated (sporadic) - - 3y3m - Johan den Dunnen 00437957
0000327865 - WITKOS see paper; ..., birth 38w, weight 2.126 (-2.19); no hypotonia; no feeding difficulties; moderate intellectual disability; global developmental delay; language delay, 19m--first words; expressive; 10m-sit unassisted; 20m-first steps; no psychiatric diagnosis; behaviour immature; no neurological hypotonia; febrile seziures; ; Isolated (sporadic) - - 7y11m - Johan den Dunnen 00437958
0000327866 - WITKOS see paper; ..., birth 37w, weight 2.98 (0.47); feeding difficulties; ; 8m-sit unassisted; 12m-first steps; ADHD; aggressive behavior, sensory disorder, recurring obsessions; no neurological hypotonia; ; broad forehead; short chin; clinodactyly of the 5th finger, overlapping toe Isolated (sporadic) - - 4y7m - Johan den Dunnen 00437959
0000327867 - WITKOS see paper; ..., birth 41w, weight 3.118 (-0.91); no hypotonia; no feeding difficulties; mild intellectual disability; no global developmental delay; 12m-first words; 10m-first steps; ADHD; no neurological hypotonia; no epilepsy; epicanthus; depressed nasal bridge; brachytelomesophalangy, short digit, flat occiput Isolated (sporadic) - - 9y2m - Johan den Dunnen 00437960
0000327868 - WITKOS see paper; ..., birth 41w, weight 4.03 (1.025); no hypotonia; no feeding difficulties; moderate intellectual disability; global developmental delay; receptive > expressive ; 2y-first steps; no psychiatric diagnosis; no neurological hypotonia; epilepsy, EEG abnormal; MRI brain thinning posterior body corpus callosum; Familial, autosomal dominant - - 25y - Johan den Dunnen 00437961
0000327869 - WITKOS see paper; ..., ; intellectual disability below average; no global developmental delay; not receptive > expressive; no psychiatric diagnosis; no neurological hypotonia; no epilepsy; ; 2dvt, cystocele and urethrocele, evar prosthesis, hernia cicatriccalis, sigmoïd adenocarcinoma Unknown - - 67y - Johan den Dunnen 00437962
0000327870 - WITKOS see paper; ..., birth 41w; no hypotonia; no feeding difficulties; Scoliosis noted at birth; mild intellectual disability; global developmental delay; receptive > expressive ; 18m-first steps; no psychiatric diagnosis; no neurological hypotonia; no epilepsy; large ears; 8y-Burkitt lymphoma,, fifth fingers clinodactyly Isolated (sporadic) - - 11y1m - Johan den Dunnen 00437963
0000327871 - WITKOS see paper; ..., birth 32w+6, weight 1.58 (-0.88); no hypotonia; feeding difficulties; Hyperbilirubinemia, IRDS, apnoea; mild intellectual disability (IQ71); global developmental delay; 1y-language delay; receptive > expressive ; 9m-sit unassisted; 2y-first steps; no psychiatric diagnosis; no neurological hypotonia; no epilepsy; sleeping problems; orofacial cleft, conductive hearing loss Isolated (sporadic) - - 8y1m - Johan den Dunnen 00437964
0000327872 - WITKOS see paper; ..., birth 42w; no hypotonia; no feeding difficulties; moderate intellectual disability (IQ60); no global developmental delay; no language delay; receptive > expressive ; 18m-first steps; no psychiatric diagnosis; epilepsy; ; Isolated (sporadic) - - 36y3m - Johan den Dunnen 00437965
0000327873 - WITKOS see paper; ..., ; no hypotonia; feeding difficulties; mild intellectual disability; ; autism spectrum disorder, pyschosis; no neurological hypotonia; no epilepsy; sleeping problems; thickened aortic valve Isolated (sporadic) - - 22y1m - Johan den Dunnen 00437966
0000327874 - WITKOS see paper; ..., birth 42w, weight normal; hypotonia; feeding difficulties; no intellectual disability (IQ93); receptive > expressive ; psychiatric diagnosis (McDD subtype), anxiety disorder; neurological hypotonia; no epilepsy; ; Isolated (sporadic) - - 24y2m - Johan den Dunnen 00437967
0000327875 - WITKOS see paper; ..., birth at term, weight normal; hypotonia; no feeding difficulties; no intellectual disability (IQ100); ; schizoaffective disorder; no neurological hypotonia; no epilepsy; ; pelvic kidney, palate defect, 4y-left cdh diagnosis Isolated (sporadic) - - 19y - Johan den Dunnen 00437968
0000327876 - WITKOS see paper; ..., ; no intellectual disability; mild receptive > expressive; ; neurological hypotonia; epilepsy; MRI brain normal; mild downslanted pf; high and broad forehead; prominent chin; Isolated (sporadic) - - 10y - Johan den Dunnen 00437969
0000327877 - WITKOS see paper; ..., birth 36w+6, weight 1.899 (-1.5); hypotonia; feeding difficulties; no language delay; receptive > expressive ; 9m-sit unassisted; 11m-not yet unassisted first steps; neurological hypotonia; EEG normal Isolated (sporadic) - - 7m - Johan den Dunnen 00437970
0000327878 - WITKOS see paper; ..., birth 41w+5, weight 3.3 (-0.56); hypotonia; feeding difficulties; global developmental delay; receptive > expressive ; not yet sit unassisted; not yet achieved-first steps; neurological hypotonia; epilepsy, EEG normal; paroxysmal tonic upgaze; MRI brain normal; elevated liver enzymes Isolated (sporadic) - - 1y6m - Johan den Dunnen 00437971
0000327879 - WITKOS see paper; ..., birth 40w, weight 2.8 (-1.69); no hypotonia; feeding difficulties; Gastro-oesophageal reflux; no intellectual disability (IQ86); no global developmental delay; 1y-language delay; receptive > expressive ; 22m-first steps; no psychiatric diagnosis; no neurological hypotonia; no epilepsy; MRI brain enlarged cerebral spaces; Isolated (sporadic) - - 6y - Johan den Dunnen 00437972
0000327880 - WITKOS see paper; ..., birth 40w, weight 2.3 (-2.87); hypotonia; feeding difficulties; severe intellectual disability; non-verbal; receptive > expressive ; 2.5y-first steps; autism spectrum disorder; neurological hypotonia; no epilepsy; MRI brain dysplastic, ventriculomegaly; multiple vsds; bilateral iris and chorioretinal coloboma; deafness (mixed hearing loss); immunodeficiency (bronchiectasis, t cell lymphopenia, low iga, igg Isolated (sporadic) - - 11y4m - Johan den Dunnen 00437973
0000327881 - WITKOS see paper; ..., birth 40w, weight 2.76 (-2.5); hypotonia; no feeding difficulties; mild intellectual disability (IQ78); no global developmental delay; no language delay, 12m-first words; receptive > expressive ; 17m-first steps; ADHD; neurological hypotonia; no epilepsy; MRI brain ventriculomegaly, Chiari 1 malformation, headaches; flat midface; high and broad forehead; plagiocephaly, recurrent otitis media (transtympanic drains needed), amigdalectomy, asthma, scoliosis, chiari i malformation that needed surgery Isolated (sporadic) - - 19y - Johan den Dunnen 00437974
0000327882 - WITKOS see paper; ..., birth 41w+3 , weight 2.95 (-1.126); no hypotonia; No; Joint laxity, Unilateral hypermetropia ; mild intellectual disability; mild global developmental delay; language delay, 11m-first words; receptive > expressive ; mild motor delay; 5msit unassisted; 14m-first steps; no psychiatric diagnosis; neurological hypotonia; no epilepsy; MRI brain 3y-normal; hypotelorism; small nasal bridge; small mouth, thin lips, small incisors and relatively large canines; normal; flat midface; relatively short fingers; clinodactyly, widened sandal gap, right great toe angled towards lateral edge of foot, glue ear, multiple dental caries Isolated (sporadic) - - 6y6m - Johan den Dunnen 00437975
0000327887 - WITKOS developmental delay; intellectual disability; speech delay; behavioral problems; hypotonia; feeding difficulties; head circumference below −2SD, height not below −2SD; MRI brain normal; no epilepsy; skeletal abnormalities; hearing loss; typical facial dysmorphic features; ectodermal symptoms; bifid uvula, submucous cleft palate and velopharyngeal insufficiency, sleep apnea, alternating exotropia Unknown 07y - - - Johan den Dunnen 00437983
0000327888 - WITKOS developmental delay; speech delay; no behavioral problems; hypotonia; feeding difficulties; head circumference below −2SD, height not below −2SD; no epilepsy; no skeletal abnormalities; no hearing loss; typical facial dysmorphic features; no ectodermal symptoms Isolated (sporadic) 2y2m - - - Johan den Dunnen 00437984
0000327889 - WITKOS developmental delay; intellectual disability; speech delay; behavioral problems; hypotonia; feeding difficulties; head circumference below −2SD, height not below −2SD; MRI brain abnormal; no epilepsy; skeletal abnormalities; no hearing loss; typical facial dysmorphic features; ectodermal symptoms; premature birth, dysautonomia Unknown 6y8m - - - Johan den Dunnen 00437985
0000327890 - WITKOS developmental delay; no intellectual disability; speech delay; behavioral problems; hypotonia; feeding difficulties; head circumference not below −2SD, height not below −2SD; MRI brain abnormal; no epilepsy; skeletal abnormalities; no hearing loss; no ectodermal symptoms; high palate, atrial septal defect, hyperextensible joints, hypopigmented skin lesions, frequent falling Isolated (sporadic) 6y8m - - - Johan den Dunnen 00437986
0000327891 - WITKOS developmental delay; intellectual disability; speech delay; no behavioral problems; hypotonia; no feeding difficulties; head circumference not below −2SD, height not below −2SD; no epilepsy; skeletal abnormalities; no typical facial dysmorphic features; premature birth, hypogonadrotropic hypogonadism, diabetes mellitus Familial 19y - - - Johan den Dunnen 00437987
0000327892 - WITKOS developmental delay; speech delay; no behavioral problems; hypotonia; feeding difficulties; head circumference below −2SD, height not below −2SD; no epilepsy; no skeletal abnormalities; hearing loss; typical facial dysmorphic features; no ectodermal symptoms; atrial septal defect, sacral dimple; maternally inherited 22q12.2 duplication Isolated (sporadic) 1y8m - - - Johan den Dunnen 00437988
0000327893 - WITKOS developmental delay; speech delay; no behavioral problems; no hypotonia; feeding difficulties; head circumference below −2SD, height below −2SD; MRI brain abnormal; epilepsy; no skeletal abnormalities; no hearing loss; typical facial dysmorphic features; ectodermal symptoms; premature birth, Pierre Robin sequence, cleft soft palate Familial 02y01m - - - Johan den Dunnen 00437989
0000327894 - WITKOS no developmental delay; no intellectual disability; no speech delay; no behavioral problems; no hypotonia; no feeding difficulties; head circumference not below −2SD, height not below −2SD; MRI brain aormal; no epilepsy; skeletal abnormalities; no hearing loss; typical facial dysmorphic features; no ectodermal symptoms Unknown 31y - - - Johan den Dunnen 00437990
0000327895 - WITKOS no developmental delay; no intellectual disability; no speech delay; behavioral problems; no hypotonia; no feeding difficulties; head circumference not below −2SD, height below −2SD; MRI brain abnormal; epilepsy; skeletal abnormalities; no hearing loss; typical facial dysmorphic features; no ectodermal symptoms; possible narcolepsy, memory concerns, fatigue, muscle weakness, paresthesias, gait instability Unknown 32y - - - Johan den Dunnen 00437991
0000351463 - - Abnormality of the face, Epicanthus, Motor delay, Hypotonia, Dysphagia, Pectus excavatum, Genu valgum, Joint hypermobility, Decreased body weight, Ventriculomegaly Isolated (sporadic) 04y - - - Andreas Laner 00466079
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