Phenotypes for disease #02534 (WDSTS (Wiedemann-Steiner syndrome), OMIM:605130)

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0000042912 - Familial, autosomal dominant weight 75th percentile - 06y 6y height 0.4th-2nd; weight 2nd-9th; OFC 9th Eyebrow lateral flare Thick eyebrows Long eyelashes Palpebral fissures, downslanting Palpebral fissures, vertically narrow Wide nasal bridge Broad nasal tip Upper vermillion border, thin Broad first digits Slim and muscular build Rib anomalies Sacral dimple Constipation Feeding difficulties Nasogastric and percutaneous endoscopic gastrostomy feeding Hypertrichosis cubiti Hypertrichosis, back Developmental delay Intellectual disability Autism Aggressive behavior Poor sleep Short stature Postnatal growth retardation - - - - Guorui Hu 00056281
0000042913 - Familial, autosomal dominant weight 2nd-9th - 08y weight <0.4th, heigth <0.4th, OFC <0.4th Eyebrow lateral flare Long eyelashes Palpebral fissures, downslanting Palpebral fissures, vertically narrow Wide nasal bridge Broad nasal tip Cupid’s bow, exaggerated Tapering fingers 2-3 toe syndactyly Long hallux Slim and muscular build Sacral dimple Constipation Feeding difficulties Nasogastric and percutaneous endoscopic gastrostomy feeding Hypertrichosis cubiti Hypertrichosis, back Developmental delay Intellectual disability Autism Poor sleep Short stature Postnatal growth retardation Intrauterine growth retardation Microcephaly - - - - Guorui Hu 00056283
0000042914 - Familial, autosomal dominant weight 0.4th-2nd - 12y weight 25th, heigth 9th, OFC 50th Thick eyebrows Long eyelashes Palpebral fissures, downslanting Palpebral fissures, vertically narrow Wide nasal bridge Broad nasal tip Cupid’s bow, exaggerated Rib anomalies Sacral dimple Hypertrichosis cubiti Hypertrichosis, back Hypertrichosis, lower limbs Developmental delay Intellectual disability Aggressive behavior Postnatal growth retardation Intrauterine growth retardation - - - - Guorui Hu 00056284
0000042915 - Familial, autosomal dominant weight 9th - 08y weight 2nd, heigth 9th, OFC <2nd Thick eyebrows Long eyelashes Palpebral fissures, downslanting Palpebral fissures, vertically narrow Wide nasal bridge Broad nasal tip Cupid’s bow, exaggerated Broad first digits Tapering fingers 2-3 toe syndactyly Long hallux Slim and muscular build Rib anomalies Constipation Feeding difficulties Hypertrichosis cubiti Hypertrichosis, back Developmental delay Intellectual disability Aggressive behavior Postnatal growth retardation Intrauterine growth retardation Microcephaly - - - - Guorui Hu 00056286
0000042916 - Familial, autosomal dominant weight 25th-50th - 24y weight <25th, heigth 0.4th-2nd, OFC 50th Thick eyebrows Long eyelashes Palpebral fissures, downslanting Palpebral fissures, vertically narrow Wide nasal bridge Broad nasal tip Upper vermillion border, thin Tapering fingers Scoliosis Sacral dimple Hypertrichosis cubiti Hypertrichosis, back Hypertrichosis, lower limbs Developmental delay Intellectual disability Patent ductus arteriosus Short stature - - - - Guorui Hu 00056289
0000042917 - Familial, autosomal dominant - - 00y20m - Thick hair Thick eyebrows Long eyelashes Short palpebral fissures Palpebral fissures, downslanting Hypertelorism Strabismus Wide nasal bridge Depressed nasal bridge Bulbous nose Upper vermillion border, thin Abnormal dentition Tapering fingers Clinodactyly Sacral dimple Feeding difficulties Developmental delay Intellectual disability Hypotonia Urinary tract infections Short stature Postnatal growth retardation Microcephaly - - - - Guorui Hu 00056290
0000042918 - Familial, autosomal dominant - - 01y - Thick hair Prominent forehead Thick eyebrows Long eyelashes Short palpebral fissures Palpebral fissures, downslanting Hypertelorism Microphthalmia Wide nasal bridge Micrognathia Broad first digits Tapering fingers 3–4 partial left-hand syndactyly 2-3 toe syndactyly Sacral dimple Small hands and feet pectus excavatum Wide anterior fontanelle Hypertrichosis, back Low hair line Developmental delay Hypotonia Short stature Postnatal growth retardation Intrauterine growth retardation - - - - Guorui Hu 00056291
0000042919 - Familial, autosomal dominant - - 04y03m - Thick hair Prominent forehead Thick eyebrows Long eyelashes Ptosis Hypertelorism Slightly low hanging columella Small ears Abnormal dentition Micrognathia Short fifth finger Mild fifth finger brachyclinodactyly Rib anomalies Congenital hip dysplasia Doughy and redundant skin on her hands Advanced Bone age Feeding difficulties Nasogastric and percutaneous endoscopic gastrostomy feeding Hypertrichosis Hypertrichosis, back Low hair line Developmental delay Intellectual disability Hypotonia CNS malformation Cardiac anomaly Normal TSH, T4, GH, IGF-1, IGFBP3, 17OHP, LH, E2 and T levels Ureterocele Urinary tract infections Grade IV vesicoureteral reflux and a left ureterocele Short stature - - - - Guorui Hu 00056292
0000042920 - Familial, autosomal dominant - - 07y06m - Intrauterine growth retardation Postnatal growth retardation Short palpebral fissures Hypertelorism Epicanthus Wide nasal bridge/broad nasal tip Micrognathia Rib anomalies Delayed bone age Constipation Low hair line Developmental delay Intellectual disability Hypotonia Ambiguous genitalia Discordance between gender and karyotype Abnormal gonadal development Normal TSH, T4, GH, LH, high FSH, E2, low T levels - - - - Guorui Hu 00056297
0000042921 - Isolated (sporadic) weight 1932 (<10th), heigth 45(10–50th) - 10y - Short stature Intrauterine growth retardation Postnatal growth retardation Microcephaly Thick hair Thick eyebrows Long eyelashes Palpebral fissures, vertically narrow Hypertelorism Wide nasal bridge Deep set ears Small ear canals Upper vermillion border, thin High-arched palate  Long philtrum Clinodactyly Small hands and feet Feeding difficulties Nasogastric and percutaneous endoscopic gastrostomy feeding Hypertrichosis cubiti Developmental delay Intellectual disability Hypotonia Patent ductus arteriosus Normal TSH, GH stimulation test, IGF-1, IGFBP3 and cortisol levels Small kidneys - - - - Guorui Hu 00056298
0000042922 - Familial, autosomal dominant weight 1932 (<10th), heigth 45 (10-50th) - 10y - Short stature Intrauterine growth retardation Postnatal growth retardation Microcephaly Thick hair Thick eyebrows Synophrys Long eyelashes Palpebral fissures, vertically narrow Hypertelorism Wide nasal bridge Bulbous nose Small ears Deep set ears Small ear canals Upper vermillion border, thin High-arched palate  Long philtrum Clinodactyly Small hands and feet Normal bone age Feeding difficulties Nasogastric and percutaneous endoscopic gastrostomy feeding Hypertrichosis cubiti Developmental delay Intellectual disability Hypotonia Normal TSH, GH stimulation test, IGF-1, IGFBP3 and cortisol levels Small kidneys - - - - Guorui Hu 00056300
0000042923 - Isolated (sporadic) - - 03y - Intrauterine growth retardation Short stature Normal head circumference Prominent forehead Thick eyebrows Arched eyebrows Long eyelashes Long palpebral fissures Palpebral fissures, downslanting Ptosis Epicanthus Ectropion of lateral third of lower eyelid Strabismus Short columella Wide nasal bridge Broad nasal tip Depressed nasal tip Prominent ear Auricular deformity Cupid’s bow, exaggerated High-arched palate  Abnormal dentition Hypodontia Micrognathia Broad first digits Short fifth finger Clinodactyly Contracture of the distal interphalangeal joint Hypertrichosis Hypertrichosis, back Hypertrichosis, lower limbs Abnormal dermatoglyphics Prominent digit pads Developmental delay Intellectual disability Hypotonia Cardiac anomaly - - - - Guorui Hu 00056303
0000042924 - Familial, autosomal dominant - - 09y02m - Intrauterine growth retardation Normal head circumference Short stature Thick hair Prominent forehead Thick eyebrows Wide nasal bridge Broad nasal tip Depressed nasal tip Upper vermillion border, thin High-arched palate  Clinodactyly Sacral dimple Constipation Hypertrichosis Hypertrichosis cubiti Hypertrichosis, back Hypertrichosis, lower limbs Low hair line Developmental delay Intellectual disability Poor sleep - - - - Guorui Hu 00056305
0000042925 - Isolated (sporadic) - - 04y05m - Microcephaly Short stature Intrauterine growth retardation Eyebrow lateral flare Thick eyebrows Long eyelashes Palpebral fissures, downslanting Palpebral fissures, vertically narrow Short columella Wide nasal bridge Broad nasal tip Depressed nasal tip Upper vermillion border, thin Abnormal dentition Tapering fingers 2-3 toe syndactyly Clinodactyly Contracture of the distal interphalangeal joint Slim and muscular build Puffy hand and foot Joint laxity Constipation Feeding difficulties Nasogastric and percutaneous endoscopic gastrostomy feeding Hypertrichosis Hypertrichosis cubiti Hypertrichosis, back Hypertrichosis, lower limbs Low hair line Abnormal dermatoglyphics Prominent digit pads Developmental delay Intellectual disability Hypotonia Poor sleep - - - - Guorui Hu 00056306
0000042926 - Isolated (sporadic) - - 03y - Normal head circumference Short stature Thick hair Prominent forehead Thick eyebrows Arched eyebrows Long eyelashes Palpebral fissures, downslanting Palpebral fissures, vertically narrow Ptosis Hypertelorism Deafness Cupid’s bow, exaggerated Upper vermillion border, thin Micrognathia Tapering fingers Short fifth finger Sacral dimple Puffy hand and foot Constipation Hypertrichosis Hypertrichosis cubiti Hypertrichosis, back Low hair line Developmental delay Intellectual disability - - - - Guorui Hu 00056307
0000042927 - Isolated (sporadic) - - 09y06m - Normal head circumference Short stature Thick hair Eyebrow lateral flare Thick eyebrows Arched eyebrows Long eyelashes Long palpebral fissures Palpebral fissures, downslanting Palpebral fissures, vertically narrow Hypertelorism Epicanthus Ectropion of lateral third of lower eyelid Strabismus Wide nasal bridge Depressed nasal tip Cupid’s bow, exaggerated Upper vermillion border, thin Micrognathia Broad first digits Clinodactyly Long hallux Small hands Puffy hands Hypertrichosis Hypertrichosis cubiti Hypertrichosis, back Hypertrichosis, lower limbs Prominent digit pads Developmental delay Intellectual disability Hyperactivity CNS malformation - - - - Guorui Hu 00056308
0000042928 - Familial, autosomal dominant - - 01y09m - original diagnosis CDLS; intrauterine growth retardation Microcephaly Short stature Thick hair Synophrys Arched eyebrows Long eyelashes Short palpebral fissures Palpebral fissures, downslanting Hypertelorism Epicanthus Strabismus Low nasal bridge Dysmorphic ears Upper vermillion border, thin High-arched palate  Long philtrum Widely spaced teeth Downturned corners of the mouth Micrognathia Brachydactyly Clinodactyly Hypertrichosis Low hair line Intellectual disability Normal behavioral problems Patent ductus arteriosus - - - - Guorui Hu 00056309
0000042995 - Isolated (sporadic) - - 04y - initially diagnosed atypical Kabuki syndrome, unavailable for evaluation - - - - Johan den Dunnen 00056380
0000050836 - Familial, autosomal dominant - - - - - - - - - Guorui Hu 00064037
0000050837 - Familial, autosomal dominant - - - - - - - - - Guorui Hu 00064038
0000059353 - Familial, autosomal dominant 38 weeks’ gestation, birth weight 2,450 g (10–25th centiles), occipitofrontal circumference (OFC) of 33 cm (3rd to 10th centiles), and length of 49 cm (50th centile). - 14y -6SD, -4SD, -6SD Short stature; Microcephaly; Eyebrow, lateral flare -; Hypertelorism; Downslanted palpebral fissures; Vertically narrow palpebra fissures -; Wide nasal bridge; Broad nasal tip -; Long philtrum -; Thin upper lip; Low-set ears -; Strabismus; Dolichocilia; Thick hair; thick eyebrows; Abnormal dentition; High palate -; Micrognathia -; hypotonia; Advanced bone age -; Small hands and feet; Fleshy hands/feet -; Clinodactyly -; Congenital hip dysplasia; Hypertrichosis cubiti; Hypertrichosis, back; Hypertrichosis, lower limbs; Developmental delay; Intellectual disability; Autism -; Aggressive behavior; Seizure; Hyperactivity -; Cardiovascular anomalies -; Kidney/ureter malformation -; Feeding difficulties; Nasogastric and percutaneous endoscopic gastrostomy feeding; Intestine anomalies; Immunodeficiency; Urinary trait infection; Respiratory trait infection -; Otitis media -; Cryptorchidism; Constipation; Poor sleep; Bulbous nose; Depressed nasal bridge; - - - - Guorui Hu 00079629
0000059354 - Familial, autosomal dominant at term, birth weight 3.3 kg (50th centile) - 00y21m weight 5.2 kg (far below the 0.4th centile) , head circumference of 46 cm (2nd centile) short stature; Slim and muscular build; microcephaly; Thick eyebrows -; Ptosis; Hypertelorism; Epicanthus; Microphthalmia -; Strabismus; Micrognathia -; Deep set ears; Prominent ear -; Auricular deformity -; Hearing loss -; normal hands and feet; pectus excavatum; Hypertrichosis, cubiti -; Hypertrichosis, back; Hypertrichosis, lower limbs -; Developmental delay; Intellectual disability; Hypotonia; Poor sleep; Feeding difficulties -; Cardiac anomaly -; - - - - Guorui Hu 00079630
0000059355 - Familial, autosomal dominant - - - - short stature； microcephaly； Hypertelorism； flat nose; Thin lips; short neck; full cheeks; Sacral dimple; Developmental delay; Intellectual disability; Feeding difficulties; megaloureter; abnormal midface; cone-shaped epiphysis of the phalanges of the hand; HP:0007441; - - - - Guorui Hu 00079631
0000059356 - Familial, autosomal dominant - - - - HP:0000256; HP:0000750; HP:0001263; HP:0000581; HP:0001488; HP:0011039; HP:0010532; Inappropriate sexual behavior; - - - - Guorui Hu 00079632
0000060442 Wiedemann-Steiner syndrome Isolated (sporadic) - WDSTS 04y - see paper; ... - - - - Daniel Trujillano 00080873
0000060476 - Isolated (sporadic) - - - - Wiedemann-Steiner syndrome (OMIM:605130) - - - - Daniel Trujillano 00080907
0000060585 - Isolated (sporadic) - - - - Wiedemann-Steiner syndrome (OMIM:605130) - - - - Daniel Trujillano 00081016
0000068527 - - - - - - - 05 years - - - Anjali Aggarwal 00089138
0000070610 - Familial, autosomal dominant - - - - mild IDD, dysmorphisms, short stature, hairy elbows, dysautonomia, paroxysmal episodes, syncope, migraines, fusion of C2-C3 vertebrae, 11 pairs of ribs, 5th finger clinodactyly and camptodactyly; low copper & ceruloplasmin - - - - Johan den Dunnen 00092274
0000087480 - Isolated (sporadic) - - - - Moderate ID, hypertelorism - - - - Bernt Popp 00111395
0000159668 Wiedemann-Steiner syndrome Isolated (sporadic) The Chinese boy was 7 years old now, he was born at 36 weeks’ gestation hypotonia was noted Wiedemann-Steiner syndrome 07y - small palpebral fissures, ptosis, telecanthus, and epicanthus inversus ,thick eyebrows、hair and long philtrum、strabismus and amblyopia,low hairline,narrow high palate, abnormal and low-set ears, hypertrichosis back. 07y - - - Jinxiu Liu 00211186
0000210292 - Isolated (sporadic) - WDSTS 24y - see paper; ... - - - - Stefano Giuseppe Caraffi 00275694
0000210863 - Isolated (sporadic) - WDSTS - - see paper; ... - - - - Stefano Giuseppe Caraffi 00276273
0000210864 - Isolated (sporadic) - WDSTS - - see paper; ... - - - - Stefano Giuseppe Caraffi 00276274
0000210865 - Isolated (sporadic) - WDSTS - - see paper; ... - - - - Stefano Giuseppe Caraffi 00276275
0000210866 - Isolated (sporadic) - WDSTS - - see paper; ... - - - - Stefano Giuseppe Caraffi 00276276
0000210867 - Isolated (sporadic) - WDSTS - - see paper; ... - - - - Stefano Giuseppe Caraffi 00276277
0000210868 - Isolated (sporadic) - WDSTS - - see paper; ... - - - - Stefano Giuseppe Caraffi 00276278
0000210869 - Isolated (sporadic) - WDSTS 06y06m - see paper; ... - - - - Stefano Giuseppe Caraffi 00276279
0000210870 - Isolated (sporadic) - WDSTS 13y - see paper; ... - - - - Stefano Giuseppe Caraffi 00276280
0000244667 2y Unknown - - - - (+) Abnormality of body height,(+) Abnormality of the head,(+) Microcephaly,(+) Abnormality of the face,(+) Motor delay,(+) Growth delay,(+) Abnormal facial shape,(+) Delayed gross motor development,(+) Short stature,(+) Aplasia/Hypoplasia of the cerebrum,(+) Neurodevelopmental delay,(+) Decreased head circumference - - - - Andreas Laner 00326206
0000274078 - Isolated (sporadic) - - 04y - Global developmental delay, Delayed speech and language development, Autistic behavior, Ureteropelvic junction obstruction, Abnormality of the philtrum, Thin upper lip vermilion - - - - Andreas Laner 00380227
0000274673 - Familial - Wiedeman Steiner disease - - DD; ID; Short stature (Neurological) - - - - LOVD 00380820
0000302133 - Isolated (sporadic) - WDSTS 18y - see paper; ... - - - - Stefano Giuseppe Caraffi 00410025
0000333159 - Isolated (sporadic) - - 01y - Astigmatism, Hypotonia, Global developmental delay, Motor delay, Plagiocephaly, Constipation, Short stature, Lateral ventricle dilatation - - - - Andreas Laner 00443882
0000337435 - Isolated (sporadic) - - 18y - Short stature, Seizure, EEG abnormality, Intellectual disability, severe, Hypertrichosis, Midface retrusion, Hypertelorism, Poor speech - - - - Andreas Laner 00448225
0000338865 - Isolated (sporadic) - - - - Delayed speech and language development, Abnormality of the face, Thick eyebrows, Neurodevelopmental abnormality, Abnormal cardiac septum morphology, Recurrent respiratory infections, Coarctation of aorta - 25y - - Andreas Laner 00449694
0000344502 - Isolated (sporadic) - - 02y - Microcephaly, Brachydactyly, Short stature, Atrial septal defect - - - - Andreas Laner 00455982
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