All individuals with variants in gene HDAC8

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     
Variants     
Panel size     
Owner     
00000208 - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - CHTE central hypothyroidism (FT4 0.50-0.99of lower limit normal), no prolactin deficiency, age sonographic determination testicular volume 17.64y, testicular volume right/left 21/20 (7.3–16ml) 1 1 Yu Sun
00000209 - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - CHTE central hypothyroidism (FT4 0.50-0.99of lower limit normal), prolactin deficiency, age sonographic determination testicular volume 21.36y, testicular volume right/left 30/26 (8.5–18.3ml) 1 1 Yu Sun
00043824 - - - F no - - - - - - CDLS5 - 1 1 Ilaria Parenti
00043825 - - - F no - - - - - - CDLS5 - 1 1 Ilaria Parenti
00043827 - - - F no - - - - - - CDLS5 - 1 1 Ilaria Parenti
00043828 - - - F no Italy - - - - - CDLS5 - 1 1 Ilaria Parenti
00043829 - - - F no Italy - - - - - CDLS5 - 1 1 Ilaria Parenti
00043830 - - - M no Italy - - - - - CDLS5 - 1 1 Ilaria Parenti
00043831 - - - F no (Germany) - - - - - CDLS5 - 1 1 Ilaria Parenti
00043832 - - - M no (Germany) - 02y - - - CDLS5 - 1 1 Ilaria Parenti
00043833 - - - F no Italy - - - - - CDLS5 - 1 1 Ilaria Parenti
00043834 - - - F no (Sweden) - - - - - CDLS5 - 1 1 Ilaria Parenti
00043835 - - - M no (Spain) - - - - - CDLS5 - 1 1 Ilaria Parenti
00050470 - PubMed: DDDS 2015, Journal: DDDS 2015 family, affected sibling(s) M - United Kingdom (Great Britain) - - - Decipher - ? brachycephaly, nystagmus, global developmental delay, specific learning disability, highly arched eyebrow, facial asymmetry, long nose, retinitis pigmentosa, synophrys, strabismus 1 2 Johan den Dunnen
00050539 - PubMed: DDDS 2015, Journal: DDDS 2015 family, 1 affected F - United Kingdom (Great Britain) - - - Decipher - ? global developmental delay, defect in the atrial septum, craniofacial asymmetry, synophrys, feeding difficulties in infancy 1 1 Johan den Dunnen
00050626 - PubMed: DDDS 2015, Journal: DDDS 2015 affected, unknown family members F - United Kingdom (Great Britain) - - - Decipher - ? clinodactyly of the 5th finger, intrauterine growth retardation, sparse scalp hair, defect in the atrial septum, plagiocephaly, microcephaly, growth delay 1 1 Johan den Dunnen
00050632 - PubMed: DDDS 2015, Journal: DDDS 2015 family, 1 affected F - United Kingdom (Great Britain) - - - Decipher - ? autism, obesity, intellectual disability, pes cavus, hallux valgus 1 1 Johan den Dunnen
00101389 P2 - - M no China - >02y - - - ID HP:0000252; HP:0006101; HP:0000028; HP:0002036; global developmental delay (HP:0001263) 1 1 Wenjuan Qiu
00172827 19377476-Pat? PubMed: Tarpey 2009 - M - - - - - for details contact Lucy Raymond (flr24 @ cam.ac.uk) - MRX;IDX - 1 4 Lucy Raymond
00172828 19377476-Pat? PubMed: Tarpey 2009 - M - - - - - for details contact Lucy Raymond (flr24 @ cam.ac.uk) - MRX;IDX - 1 1 Lucy Raymond
00205861 patient 1 - - F - China - - - - - epilepsy - 1 1 Jinliang Li
00289412 - - - F - - - - - - - ? Short stature (HP:0004322); Global developmental delay (HP:0001263); Abnormality of nervous system physiology (HP:0012638); Ventricular septal defect (HP:0001629); Abnormality of the ventricular septum (HP:0010438); Growth abnormality (HP:0001507) 1 1 Andreas Laner
00302952 Pat8 PubMed: Fieremans 2016 - F - - - - - - - ID see paper; ..., moderate intellectual disability, postnatal growth restriction, hypotonia, seizures, autistic traits 1 1 Johan den Dunnen
00303168 CDL209P PubMed: Kaiser 2014 - F - - - - - - - CDLS brachycephaly; no low anterior hairline; open fontanelle (6 wk); arched eyebrows, synophrys, long eyelashes, hypertelorism, telecanthus, ptosis; depressed nasal bridge, anteverted nostrils, long philtrum, smooth philtrum; no thin upper lip, downturned corners mouth, micrognathia/retrognathia; short neck; small, lowset ears; , hirsutism, nevus flameus; small hands, clinodactyly 5th finger, short 5th finger; small feet; no caridac defects, moderate PDA; no genitourinary defects; feeding problems infancy, difficulty nursing; anterior anus; hearing loss, failed NBS; irritable (infant); birth 34w, birth weight 1988g (SD 0), length 42cm (SD -1,6); weight 2.74kg (Z -1,2), height 33.5cm (SD -0,7); no obesity 1 1 Johan den Dunnen
00303169 D11-209M PubMed: Kaiser 2014 2-generation family, affected mother F - - - - - - - CDLS moderate; brachycephaly; low anterior hairline; arched eyebrows, synophrys, no long eyelashes, no hypertelorism, no telecanthus, no ptosis, no hooding of lids; no depressed nasal bridge, no anteverted nostrils, long philtrum, no smooth philtrum, no broad/no bulbous nasal tip; thin upper lip, no downturned corners mouth, no gap between upper incisors, no micrognathia/no retrognathia; no cutis marmorata, no hirsutism; , proximally set thumbs, no clinodactyly 5th finger, short 5th finger, no single transverse palmar crease; no restriction elbow movements; no hearing loss; no seizures ; intellectual disability, 4y-special education; normal speech; normal motor development; obese (Z 3), height 165cm (Z 0,25), OFC 54cm (SD 0,2); obesity 1 2 Johan den Dunnen
00303170 D11-209P PubMed: Kaiser 2014 affected son M - - - - - - - CDLS severe; brachycephaly; low anterior hairline; very large anterior and posterior fontanelles; arched eyebrows, synophrys, no long eyelashes, hypertelorism, telecanthus, no ptosis, hooding of lids; no depressed nasal bridge, no anteverted nostrils, long philtrum, no smooth philtrum, no broad/no bulbous nasal tip; thin upper lip, downturned corners mouth, high arched palate, cleft palate, submucous cleft, widely spaced teeth, gap between upper incisors, oligodontia, fused incisor, no micrognathia/no retrognathia; short neck; no cutis marmorata, no hirsutism, nevus flameus; , proximally set thumbs, clinodactyly 5th finger, no short 5th finger, single transverse palmar crease; no syndactyly toes; no restriction elbow movements; genitourinary defect, micropenis cryptorchidism; gastroesophageal reflux; feeding problems in infancy ; hiatal hernia; hearing loss; no seizures ; intellectual disability; very pleasant; speech 3y-3 words; sit unstable-3y; weight 8,7kg (Z -2,2), height 72cm (Z -2,2), OFC 45cm (SD -1,5); no obesity 1 1 Johan den Dunnen
00303171 DECIPHER 268420 PubMed: Kaiser 2014 - F - United Kingdom (Great Britain) - - - - - CDLS moderate; brachycephaly, microcephaly; low anterior hairline; prominent metopic suture at birth; arched eyebrows, synophrys, no long eyelashes, hypertelorism, telecanthus, no ptosis, myopia (-6), no hooding of lids; no depressed nasal bridge, no anteverted nostrils, long philtrum, no smooth philtrum, broad/bulbous nasal tip; no thin upper lip, no downturned corners mouth, widely spaced teeth, no gap between upper incisors, caries, possible absence of mandibular primary lateral incisors, fused lower primary incisors and canines, mild micrognathia/retrognathia ; no short neck; no cutis marmorata, hirsutism forehead, nevus flameus, pigmentary mosaicism; small feet, no syndactyly toes; gastroesophageal reflux; feeding problems in infancy (NGT x 1mo); difficulty eating solid foods, normal bowel movements @ 5.5y; severe bilateral SNHL; MRI brain normal; no seizures ; moderate-severe intellectual disability; friendly, disinhibited, hyperactive, no sleeping problems, voluntarily "pants"; speech 2y-2 words, 5.5y-50 words, understands 1 stage commands, learning colors and animals; sat-10m, walk-24m, 5.5y-poor fine motor, not toilet trained; oligohydramnios, hyperbilirubinemia; birth 40w, birth weight 2700g (SD -1,4); weight 13.9kg (Z -2,7), height 99.7cm (Z -2,5), OFC 44.8cm (SD -5); no obesity 1 1 Johan den Dunnen
00303172 HD8HC1P PubMed: Kaiser 2014 - F - - - - - - - CDLS mild; no brachycephaly; no low anterior hairline, mild widow's peak; early plagiocephaly (requiring helmet); bitemporal narrowing; bony prominence on right mandible not seen on xray; arched eyebrows, mild synophrys, no long eyelashes, no hypertelorism, telecanthus, ptosis, myopia, no lacrimal duct obstruction, hooding of lids as younger child, short palpebral fissures; depressed nasal bridge, anteverted nostrils, no long philtrum, smooth philtrum, broad/bulbous nasal tip; no thin upper lip, no downturned corners mouth, no high arched palate, no cleft palate, no widely spaced teeth, no gap between upper incisors, normal teeth, micrognathia/retrognathia; no short neck; small mouth; cutis marmorata, hirsutism, nevus flameus, coarse/wooly textured hair; small hands, no proximally set thumbs, short and wide, no clinodactyly 5th finger, no short 5th finger, no single transverse palmar crease, bridged crease on left; small feet, no syndactyly toes; no restriction elbow movements, increased elbow extension; deeper set toenails; caridac defect, small ASD; no genitourinary defects, normal abdominal ultrasound; gastroesophageal reflux; feeding problems infancy, G-tube until 3y; no hearing loss; ultrasound brain normal; no seizures, "tremors" at 3 years thought to be autonomic response; intellectual disability; generally happy and easy going, sometimes screams for attention; speech 3y4m-40 words, 5y-1 to 4 word utterances to label, comment, request ; rolling-8m, sit without support-10m, walk-31m, run,jump and stairs 3y3m, delayed fine motor skills but are a relative strength; maternal pulmonary embolism at 26 weeks. Late in pregnancy fetus "small" by ultrasound; birth 39w, birth weight 2578g (SD -1,6), length 45.7cm (SD -2); weight 16.1kg (Z -0,5), height 98cm (Z -1,6), OFC 47cm (SD -2,4); no obesity 1 1 Johan den Dunnen
00303173 R27C10 PubMed: Kaiser 2014 - F - - - - - - - CDLS moderate; brachycephaly; low anterior hairline; open fontanelle, plagiocephaly; arched eyebrows, mild synophrys, long eyelashes, no hypertelorism, no telecanthus, mild ptosis, no lacrimal duct obstruction, no hooding of lids, squint; depressed nasal bridge, anteverted nostrils, long philtrum, no smooth philtrum, broad/bulbous nasal tip; no thin upper lip, downturned corners mouth, high arched palate, no cleft palate, widely spaced teeth, gap between upper incisors, irregular dentition, micrognathia/retrognathia; no short neck; prematurely aged; no cutis marmorata, hirsutism; small hands, proximally set thumbs, clinodactyly 5th finger, short 5th finger, no single transverse palmar crease; small feet, syndactyly toes 2,3; short distal phalanges, fetal finger pads, bilateral short 4th metatarsals, leg length discrepancy; caridac defect, primum ASD; no genitourinary defects; severe gastroesophageal reflux; feeding problems in infancy ; gastrostomy; MRI brain normal; no seizures ; intellectual disability, severe global delay; happy sociable as a baby, now aggressive with tantrums; nonverbal uses a few signs; delayed motor development, sat-15m, walk-8y with support; 5 wks in SCBU on oxygen; birth 37-5/7w, birth weight 1450g (SD -3,6), length 40.5cm (SD -3,2); 1 1 Johan den Dunnen
00303174 R34B12/DECIPHER 252235 PubMed: Kaiser 2014 - F - United Kingdom (Great Britain) - - - - - CDLS mild; brachycephaly; no low anterior hairline; fontanelle closed at 3y; arched eyebrows, no synophrys, long eyelashes, no hypertelorism, no telecanthus, no ptosis, no myopia, no lacrimal duct obstruction, no hooding of lids, mild upslant; no depressed nasal bridge, anteverted nostrils, long philtrum, no smooth philtrum, no broad/no bulbous nasal tip; thin upper lip, downturned corners mouth, no high arched palate, no cleft palate, no widely spaced teeth, no gap between upper incisors, slightly broad teeth, no micrognathia/no retrognathia; no short neck; short nasal bridge, sparse hair; no cutis marmorata, no hirsutism, no nevus flameus, freckled nasal bridge and left leg; small hands, proximally set thumbs, clinodactyly 5th finger, short 5th finger, no single transverse palmar crease; small feet, no syndactyly toes; no restriction elbow movements; normal patellae; caridac defect, ASD; no genitourinary defects; no gastroesophageal reflux; feeding problems in infancy ; no hearing loss; glue ear; no anomalies CNS; no seizures ; mild intellectual disability; autistic behavior; delayed expressive language; delayed motor development, walk->2y; birth 30w, birth weight 900g (SD -3), length ; weight 14.2kg (Z , height 97.6cm (Z -2), OFC 46.2cm; no obesity 1 1 Johan den Dunnen
00303175 R19H7 PubMed: Kaiser 2014 - F - - - - - - - CDLS moderate; brachycephaly; low anterior hairline; arched eyebrows, synophrys, long eyelashes, hypertelorism, telecanthus, no ptosis, no hooding of lids; no depressed nasal bridge, anteverted nostrils, long philtrum, no smooth philtrum, broad/bulbous nasal tip; no thin upper lip, no downturned corners mouth, cleft palate, submucous, 4 teeth only at age 21 months, micrognathia/retrognathia not obvious as infant; short neck; prominent nasal "pillars"/"buttresses"; , hirsutism, nevus flameus; , clinodactyly 5th finger, short 5th finger, no single transverse palmar crease; small feet; Bone age 2 yrs 6 mths at 2 yrs 10 mths. Distal bones more advanced than proximal. One coned epiphyses of middle phalynx of index finger. Short middle phalynx of 5th fingers; caridac defect, Premium & secundum ASD & VSD mitral valve cleft & PDA ligation; no genitourinary defects, Renal U/S normal, normal U/S of hips; gastroesophageal reflux; feeding problems infancy, nasopharyngeal regurgitation thought to have submucous cleft; Otitis media- grommets; MRI brain normal; seizures, onset 32 months on VPA; moderate intellectual disability; quiet; very poor speech, communicates using sign language, understands much more; walk-2y6,, can crawl up stairs, 34m-needs help with dressing); birth 39+6w, birth weight 2300g (SD -2), length 47cm (SD -1,6), OFC 30.5cm (SD -3); weight 5.9kg (Z -6), height 64,2cm (Z -4,2), OFC 41.3cm (SD -1,6); no obesity 1 1 Johan den Dunnen
00303176 HD8SC1P PubMed: Kaiser 2014 - F - - - - - - - CDLS mild-moderate; brachycephaly; low anterior hairline; arched eyebrows, synophrys, no long eyelashes, no hypertelorism, telecanthus, no ptosis, no myopia, no lacrimal duct obstruction, no hooding of lids; no depressed nasal bridge, anteverted nostrils, no long philtrum, no smooth philtrum, no broad/no bulbous nasal tip; no thin upper lip, downturned corners mouth, no high arched palate, no cleft palate, no widely spaced teeth, no gap between upper incisors, delayed eruption, no micrognathia/no retrognathia; no short neck; no cutis marmorata, hirsutism, no nevus flameus; small hands, no proximally set thumbs, clinodactyly 5th finger, short 5th finger, no single transverse palmar crease; no small feet, no syndactyly toes; no restriction elbow movements; normal patellae; Moderate pectus excavatum; no caridac defects; no genitourinary defects; no gastroesophageal reflux; feeding problems in infancy ; no hearing loss; -; no anomalies CNS; no seizures ; intellectual disability; speech 3.5y-50-70 words and 1-2 word sentances, good receptive language and social interaction ; head control4m, roll in both directions-5m, sat with support-7m, bore weight on legs, vocalizing "ooh" and "ah" sounds; 2-vessel cord; birth 38w, birth weight 2477g (SD -1,4), length 47cm (SD -0,9), OFC 29.5cm (SD -2,6); weight 9.05kg (Z -5,9), height 82.2cm (Z -4,5), OFC 43.8cm (SD -4,7); no obesity 1 1 Johan den Dunnen
00303177 CDL347P PubMed: Kaiser 2014 (Antonio) - M - - - - - - - CDLS severe; brachycephaly; low anterior hairline; arched eyebrows, synophrys, no long eyelashes, no hypertelorism, no telecanthus, no ptosis, myopia (-5.0 OD), no hooding of lids, upslanted palpebral fissures; no depressed nasal bridge, anteverted nostrils, long philtrum, no smooth philtrum, broad/bulbous nasal tip; thin upper lip, downturned corners mouth, high arched palate, widely spaced teeth, gap between upper incisors, fused incisor, micrognathia/retrognathia; low set ears; cutis marmorata, nevus flameus; small hands; small feet; atypical patellae; bilateral mild talipes equinovarus; no caridac defects, PFO; genitourinary defect, mild hydronephrosis, unilateral cryptorchidism; gastroesophageal reflux; feeding problems in infancy ; malrotation of colon; celiac disease; MRI brain cortical atrophy, non-obstructive hydrocephalus; severe intellectual disability; severe speeh delay; delayed motor development, rolled-5y; birth (40)w, birth weight 2900g (SD -0,5), length 48cm (SD -1), OFC 33.5cm (SD -0,5); weight 10.9kg (Z -6,5), height 99cm (Z -3,2), OFC 47.5cm (SD -2,3); no obesity 1 1 Johan den Dunnen
00303178 HD8PA1P PubMed: Kaiser 2014 - M - - - - - - - CDLS severe; died-10m; brachycephaly; low anterior hairline; large anterior and posterior fontanelles; arched eyebrows, no synophrys, long eyelashes, no hypertelorism, telecanthus, ptosis, no myopia, no lacrimal duct obstruction, no hooding of lids; depressed nasal bridge, anteverted nostrils, long philtrum, no smooth philtrum, no broad/no bulbous nasal tip; thin upper lip, downturned corners mouth, high arched palate, no cleft palate, micrognathia/retrognathia; short neck; no cutis marmorata, hirsutism, no nevus flameus; small hands, adducted proximally set thumbs , no clinodactyly 5th finger, no short 5th finger, single transverse palmar crease; small feet, no syndactyly toes; no restriction elbow movements; brachydactyly, mild bowing of femora; Tetralogy of Fallot; genitourinary defect, bilateral renal cysts; bilateral undescended testes; mild hypospadias; gastroesophageal reflux; feeding problems infancy, NGT feeds; hearing loss, severe to profound SNHL bilat; no anomalies CNS; no seizures ; intellectual disability; birth 27w, birth weight 759g (SD -1,9), length 34.5cm (SD -1,1), OFC 22cm (SD -2,8); weight 5.3kg (Z -3,7), height 54.5cm (Z -6,6), OFC 35cm (SD -6,6); 1 1 Johan den Dunnen
00303179 R23F3 PubMed: Kaiser 2014 - F - - - - - - - CDLS mild; no brachycephaly; low anterior hairline; arched eyebrows, synophrys, no long eyelashes, no hypertelorism, no telecanthus, no ptosis, no myopia, no lacrimal duct obstruction, no hooding of lids; no depressed nasal bridge, anteverted nostrils, no long philtrum, no smooth philtrum, broad/bulbous nasal tip; no thin upper lip, no downturned corners mouth, no cleft palate, no widely spaced teeth, crowding, protruding front teeth, mild micrognathia/retrognathia ; no cutis marmorata, hirsutism; small hands, proximally set thumbs, no clinodactyly 5th finger, very short 5th finger; small feet, no syndactyly toes; Short 4/5th metacarpals, 5th fingers and distal phalanges of thumbs; no caridac defects; Polycystic ovary syndrome; hearing loss, Progressive bilateral. Deaf in 30s.; no anomalies CNS; no seizures ; mild intellectual disability; autism spectrum disorder; weight 64.4kg (Z 0,5), height 150.4cm (Z -2), OFC 53.4cm (SD -0,3); no obesity 1 1 Johan den Dunnen
00303180 R23F4 PubMed: Kaiser 2014 - F - - - - - - - CDLS mild; no brachycephaly; low anterior hairline; arched eyebrows, synophrys, no long eyelashes, no hypertelorism, no telecanthus, no ptosis, no myopia, no lacrimal duct obstruction, no hooding of lids; no depressed nasal bridge, anteverted nostrils, no long philtrum, no smooth philtrum, broad/bulbous nasal tip; no thin upper lip, no downturned corners mouth, no cleft palate, no widely spaced teeth, retained primary dentition, some missing secondary dentition, no micrognathia/no retrognathia; no cutis marmorata, hirsutism; small hands, proximally set thumbs, clinodactyly 5th finger, very short 5th finger; small feet, no syndactyly toes; Short 5th metacarpals & 5th fingers and distal phalanges esp. thumb and middle finger. Ulnar deviated ring ringers; no caridac defects; Polycystic ovary syndrome; no hearing loss; no anomalies CNS; no seizures ; mild intellectual disability; autism spectrum disorder; weight 80.55kg (Z 1,5), height 154.2cm (Z -1,4), OFC 52.8cm (SD -0,9); no obesity 1 1 Johan den Dunnen
00303181 CDL423P PubMed: Kaiser 2014 - M - - - - - - - CDLS mild; no brachycephaly; no low anterior hairline; no arched eyebrows, no hypertelorism, telecanthus, hooding of lids; no anteverted nostrils, long philtrum, no smooth philtrum, no broad/no bulbous nasal tip; no thin upper lip; , no nevus flameus; restriction elbow movements; bilateral upper limb malformations; right upper extremity with hypoplastic radius.ulna and single ray, left with oligodactyly and split hand, vertebral anomaly?; no caridac defects; genitourinary defect, solitary kidney; no gastroesophageal reflux; feeding problems infancy, NG feed for 4d; hearing loss, failed NBS; spoke "early", 3y-5 word sentences; normal motor development, sat-6m, walk-1y; respiratory distress x4d @ birth; birth 40w, birth weight 2840g (SD -0,5); weight 13.78kg (Z -0,3), height 97cm (Z 0,4), OFC 49cm (SD -0,4); 1 1 Johan den Dunnen
00303182 CDL376P PubMed: Kaiser 2014 - F - - - - - - - CDLS moderate; brachycephaly; low anterior hairline; large fontanelle (6.5x3.5cm @ birth); arched eyebrows, synophrys, no long eyelashes, hypertelorism, telecanthus, no ptosis, no lacrimal duct obstruction, hooding of lids, downslanted eyes; depressed nasal bridge, anteverted nostrils, long philtrum, smooth philtrum, broad/bulbous nasal tip; thin upper lip, downturned corners mouth, cleft palate, bifid uvula, widely spaced teeth, no gap between upper incisors, small teeth, no micrognathia/no retrognathia; small ears, Small mouth; no cutis marmorata, hirsutism, nevus flameus forehead and philtrum; small hands, proximally set thumbs, no clinodactyly 5th finger, short 5th finger, no single transverse palmar crease; small feet, syndactyly toes; no restriction elbow movements; short metacarpals 4-5, short metatarsals 3-5, pes planus; no caridac defects; gastroesophageal reflux; feeding problems in infancy ; intermittent esophageal obstruction; no anomalies CNS; no seizures ; apneic episodes; intellectual disability, IQ 40-50; temper outbursts, sexual advances toward peers; birth 38w, birth weight 2600g (SD -0,5); weight 93kg (Z 2,9), height 150cm (Z -0,2), OFC 53.75cm (SD 1); obesity developed mid childhood 1 1 Johan den Dunnen
00303183 HD8NN1P PubMed: Kaiser 2014 - F - - - - - - - CDLS severe; brachycephaly; no low anterior hairline; normal skull; no arched eyebrows, no synophrys, no long eyelashes, no hypertelorism, telecanthus, no ptosis, no myopia, no lacrimal duct obstruction, no hooding of lids, deep set eyes, narrow palpebral fissures; no depressed nasal bridge, anteverted nostrils, no long philtrum, no smooth philtrum, broad/bulbous nasal tip; no thin upper lip, no downturned corners mouth, no high arched palate, no cleft palate, widely spaced teeth, gap between upper incisors, micrognathia/retrognathia; short neck; no cutis marmorata, no hirsutism, no nevus flameus; small hands, no proximally set thumbs, clinodactyly 5th finger, short 5th finger, no single transverse palmar crease; small feet, syndactyly toes 2,3; no restriction elbow movements; normal patellae; short 5th metacarpals, tapering fingers; no caridac defects; no genitourinary defects; no feeding problems in infancy ; no hearing loss; MRI brain normal; seizures, from 4 years generalized and complex partial seizures; intellectual disability; friendly; delayed speech; walk-22m; birth 37.5w, birth weight 2160g (SD ; weight 31.3kg (Z 1,8), height 122cm (Z 0,4), OFC 48.5cm (SD -2,1); 6y-obesity, progressive, described as insatiable 1 1 Johan den Dunnen
00303184 CDLG13952 PubMed: Deardorff 2012, PubMed: Kaiser 2014 - F - - - - - - - CDLS brachycephaly; no low anterior hairline; skull asymmetry; arched eyebrows, synophrys, no long eyelashes, hypertelorism, telecanthus, no ptosis, no myopia, no lacrimal duct obstruction, no hooding of lids; depressed nasal bridge, anteverted nostrils, long philtrum, smooth philtrum, broad/bulbous nasal tip; thin upper lip, downturned corners mouth, high arched palate, no cleft palate, widely spaced teeth, gap between upper incisors, no micrognathia/no retrognathia; short neck; no cutis marmorata, no hirsutism, nevus flameus; small hands, proximally set thumbs, no clinodactyly 5th finger, short 5th finger, no single transverse palmar crease; small feet, no syndactyly toes; no restriction elbow movements; leg length difference, asymmetric coxa vara abnormal femoral epiphyses,; no caridac defects, PFO, spontaneous closure at 2y; genitourinary defect, dysplatic kidneys; no gastroesophageal reflux; feeding problems in infancy ; no hearing loss; MRI brain delayed myelination of temporal – parietal region; gait apraxia; severe intellectual disability; friendly, able to focus, hyperactive, bruxism; 9y-no speech; delayed motor development; understanding and spacial perception much better than verbal; birth 38w, birth weight 2360g (SD -1,3), length 46cm (SD -1,5), OFC 34cm (SD 0,5); weight 14kg (Z -3,5), height 102.5cm (Z -2,9), OFC 49cm (SD -0,8); no obesity 1 1 Johan den Dunnen
00303185 CDL016P PubMed: Deardorff 2012, PubMed: Kaiser 2014 - F - - - - - - - CDLS moderate; died 12y; brachycephaly; no low anterior hairline, widow's peak; large anterior and posterior fontanelle; arched eyebrows, synophrys, long eyelashes, hypertelorism, telecanthus, ptosis, myopia, lacrimal duct obstruction, no hooding of lids; no depressed nasal bridge, anteverted nostrils, long philtrum, smooth philtrum, broad/bulbous nasal tip; no thin upper lip, downturned corners mouth, no cleft palate, widely spaced teeth, gap between upper incisors, micrognathia/retrognathia; short neck; cutis marmorata, hirsutism, nevus flameus; small hands, proximally set thumbs, no clinodactyly 5th finger, very short 5th finger, no single transverse palmar crease; small feet; no restriction elbow movements; no caridac defects; no genitourinary defects; gastroesophageal reflux; feeding problems in infancy ; intellectual disability; no obesity 1 1 Johan den Dunnen
00303186 C0007 PubMed: Kaiser 2014 - F - - - - - - - CDLS moderate; no brachycephaly; low anterior hairline; anterior fontanelle closed at 12 mo; arched eyebrows, synophrys, long eyelashes, no hypertelorism, no telecanthus, no ptosis, myopia, no lacrimal duct obstruction, hooding of lids; depressed nasal bridge, no anteverted nostrils, no long philtrum, no smooth philtrum, broad/bulbous nasal tip; no thin upper lip, no downturned corners mouth, no high arched palate, no cleft palate, no widely spaced teeth, no gap between upper incisors, no micrognathia/no retrognathia; no short neck; no cutis marmorata, hirsutism, no nevus flameus, dry skin; small hands, proximally set thumbs, no clinodactyly 5th finger, no single transverse palmar crease; no small feet, no syndactyly toes; no restriction elbow movements; caridac defect, mild pulmnonic stenosis; no genitourinary defects; no gastroesophageal reflux; no feeding problems in infancy ; hearing loss, right -sided mild SNHL; MRI brain choroid plexus cysts (benign); seizures ; hypertonia; mild intellectual disability, identifies vowels, 9y-no complete words; affectionate; bisyllabic words, simple sentences (9y); 9y-normal motor development; birth 37w, birth weight 2400g (SD -0,6), length 44,5cm (SD -1,6), OFC 34,5cm (SD 1,5); weight 29,5kg (Z 0), height 132cm (Z -0,3), OFC 49,5cm (SD -1); no obesity 1 1 Johan den Dunnen
00303187 C0084 PubMed: Kaiser 2014 - F - - - - - - - CDLS mild-moderate; brachycephaly; low anterior hairline; arched eyebrows, synophrys, long eyelashes, hypertelorism, telecanthus, no ptosis, no myopia, no lacrimal duct obstruction, no hooding of lids; depressed nasal bridge, anteverted nostrils, long philtrum, smooth philtrum, broad/bulbous nasal tip; thin upper lip, downturned corners mouth, no high arched palate, no cleft palate, widely spaced teeth, no gap between upper incisors, mild micrognathia/retrognathia ; no short neck; low posterior hairline, low and posteriorly rotated set ears ; no cutis marmorata, no hirsutism, nevus flameus, pigmentary mosaicism; small hands, proximally set thumbs, clinodactyly 5th finger, no single transverse palmar crease; small feet, no syndactyly toes; no restriction elbow movements; Shortened humeri, with widened metaphyses of distal femora, cleft vertebrae; no caridac defects; no genitourinary defects; gastroesophageal reflux; no feeding problems in infancy ; hearing loss, stenosis of auditory canal, otitis media with myringotomy; swallowing problems; MRI brain Mild cortical atrophy, small corpus callosum, enlarged cisterna magna; seizures, abnormal EEG; hypertonia; intellectual disability, 3y-IQ 50; friendly; no speech; retarded motor development; birth 37w, birth weight 2240g (SD -1,3), length 47cm (SD -0,5), OFC 31cm (SD -2); weight 14kg (Z -0,8), height 89cm (Z -2,6), OFC 48cm (SD -0,8); no obesity 1 1 Johan den Dunnen
00303188 CDL231P PubMed: Kaiser 2014 - F - - - - - - - CDLS severe myopia, -16 OD, -15 OS; no caridac defects; genitourinary defect, Grade 2 vesicoureteral reflux; gastroesophageal reflux; walk-3y 1 1 Johan den Dunnen
00303189 R19E9 PubMed: Kaiser 2014 - F - - - - - - - CDLS moderate; no brachycephaly; low anterior hairline; arched eyebrows, synophrys, no long eyelashes, no hypertelorism, no telecanthus, no ptosis, myopia, no lacrimal duct obstruction, no hooding of lids; depressed nasal bridge, no anteverted nostrils, no broad/no bulbous nasal tip; no thin upper lip, no downturned corners mouth, no high arched palate, no cleft palate, gap between upper incisors, micrognathia/retrognathia; no cutis marmorata, no hirsutism, nevus flameus; small hands, proximally set thumbs, no clinodactyly 5th finger, very short 5th finger; small feet, no syndactyly toes; no caridac defects; genitourinary defect, Right-sided hydronephrosis; no gastroesophageal reflux; feeding problems in infancy ; hearing loss; no anomalies CNS; no seizures ; mild intellectual disability; cheerful; good understanding of language, limited expressive language; Sat-12m, walk-26m, in mainstream school; birth 40w, birth weight 2722g (SD -1), length 45.8cm (SD -2), OFC 32cm (SD -1,6); weight 21.4kg (Z -0,6), height 113cm (Z -1,9), OFC 49.6cm (SD -0,9); no obesity 1 1 Johan den Dunnen
00303190 CDL233P PubMed: Kaiser 2014 - M - - - - - - - CDLS mild; brachycephaly; no low anterior hairline; arched eyebrows, synophrys, long eyelashes, no hypertelorism, no telecanthus, no ptosis, no myopia, lacrimal duct obstruction, hooding of lids; no depressed nasal bridge, no anteverted nostrils, long philtrum, no smooth philtrum, broad/bulbous nasal tip; thin upper lip, downturned corners mouth, high arched palate, no cleft palate, widely spaced teeth, no gap between upper incisors, small teeth, micrognathia/retrognathia; no short neck; no cutis marmorata, hirsutism, no nevus flameus, pigmentary mosaicism; small hands, proximally set thumbs, clinodactyly 5th finger, short 5th finger, no single transverse palmar crease; small feet, syndactyly toes 2,3; no restriction elbow movements; normal patellae; bone age 5y @ chron 7y, pes planus, calcaneum valgum, mild scoliosis; caridac defect, Long QT; genitourinary defect, stones; no gastroesophageal reflux; feeding problems in infancy ; hearing loss, Conductive hearing loss, with cochlear implant; no anomalies CNS; no seizures ; mild intellectual disability, speech predominate; first words, 30 mo, phrases @3y, nasal speech, receives therapy; sat-10-11m, walk-14m; FTT, frontal hair whorl, slightly inferior bone age, bulbous nasal tip; birth 37w, birth weight 1790g (SD -2), length 43cm (SD -2); weight 34.7kg (Z -3,1), height 151.9cm (Z -2,1), OFC 51.9cm (SD -1,5); no obesity 1 1 Johan den Dunnen
00303191 CDL317P PubMed: Kaiser 2014 - F - - - - - - - CDLS mild; no brachycephaly; low anterior hairline; microcephaly; arched eyebrows, synophrys, long eyelashes, hypertelorism, telecanthus, no ptosis, astigmatism, lacrimal duct obstruction, no hooding of lids; no depressed nasal bridge, anteverted nostrils, no long philtrum, smooth philtrum, broad/bulbous nasal tip; no thin upper lip, downturned corners mouth, no high arched palate, cleft palate, widely spaced teeth, micrognathia/retrognathia; short neck; mild asymmetry; no cutis marmorata, hirsutism, nevus flameus, mosaic pigmentation; small hands, proximally set thumbs, no clinodactyly 5th finger, short 5th finger, no single transverse palmar crease; small feet, syndactyly toes; no restriction elbow movements; prominent fingertip pads, prominent heels, short 5th fingers, small 3rd toe right foot, small 4th toe on left; no caridac defects, PDA resolved; genitourinary defect, Minimal left-sided pelviectasis, hypoplastic genitalia; gastroesophageal reflux; feeding problems in infancy ; no hearing loss; no anomalies CNS; no seizures ; moderate intellectual disability; friendly; first words @20 mo, 2 word phrases @6y, counts 1-10, writes name, no reading @6.5y; sat-8-10m,walk-3.5y; birth 37.5w, birth weight 1956g (SD -2), length 41.5cm (SD -3), OFC 30cm (SD -3); weight 17.3kg (Z -1,6), height 104.9cm (Z -2,7); no obesity 1 1 Johan den Dunnen
00303192 C0146 PubMed: Kaiser 2014 - F - - - - - - - CDLS moderate; brachycephaly; low anterior hairline; anterior fontanelle closed at 12 mo; no arched eyebrows, synophrys, no long eyelashes, no hypertelorism, telecanthus, no ptosis, no myopia, partial lacrimal duct obstruction, hooding of lids; no depressed nasal bridge, anteverted nostrils, no long philtrum, no smooth philtrum, broad/bulbous nasal tip; no thin upper lip, no downturned corners mouth, high arched palate, no cleft palate, widely spaced teeth, no micrognathia/no retrognathia; short neck; cutis marmorata, hirsutism; small hands, proximally set thumbs, clinodactyly 5th finger, very short 5th finger, single transverse palmar crease; small feet, syndactyly toes; no restriction elbow movements; bilateral shortening of the middle phalanges of 2nd and 5th fingers with absent proximal interphalangeal creases; caridac defect, PDA closed spontaneously at 6 mo, bradycardia/cardiac arrest with episode of bronchiolitis at 2 mo; no genitourinary defects; no gastroesophageal reflux; feeding problems in infancy ; hearing loss, mild SN, also mixed, myringotomy tubes; no anomalies CNS; one seizure; hypotonia; severe intellectual disability; calm, loving, stereotyped constant movement, burst of self-aggression; 5y-no speech; delayed motor development, walk-3y; birth 37w, birth weight 2000g (SD -2), length 43cm (SD -1,2), OFC 30cm (SD -3); weight 16,8kg (Z -1), height 4y 102cm (Z -0,23), OFC 47cm (SD -3); no obesity 1 1 Johan den Dunnen
00303193 CDL603P PubMed: Kaiser 2014 - F - - - - - - - CDLS mild; brachycephaly; no low anterior hairline; fontanelle open 1.5cm at 17 mo; arched eyebrows, synophrys, long eyelashes, hypertelorism, telecanthus, no ptosis, no myopia, no lacrimal duct obstruction, hooding of lids; depressed nasal bridge, anteverted nostrils, no long philtrum, no smooth philtrum, broad/bulbous nasal tip; no thin upper lip, downturned corners mouth, no cleft palate, no widely spaced teeth, gap between upper incisors, no micrognathia/no retrognathia; no short neck; small, posteriorly rotated ears; no cutis marmorata, no hirsutism, nevus flameus; small hands, proximally set thumbs, clinodactyly 5th finger, very short 5th finger, single transverse palmar crease; small feet, mild syndactyly toes; no restriction elbow movements; normal patellae; 2cm leg length discrepancy at 25 mo; caridac defect, narrow aortic valve, small VSD; no genitourinary defects; gastroesophageal reflux; feeding problems in infancy ; no hearing loss; no anomalies CNS; no seizures ; moderate intellectual disability, 17m-minimal word understanding; pleasant; speech 17m-vocalizing, 25m-no words, signs; crawl-12m, cruising-17m, walk-24m; birth 37w, birth weight 1845g (SD -2), length 42cm (SD -3); weight 6515kg (Z -5,5), height 70.5cm (Z -2,8), OFC 41.5cm (SD -3,7); no obesity 1 1 Johan den Dunnen
00303194 CDL179P PubMed: Kaiser 2014 - M - - - - - - - CDLS severe; brachycephaly; low anterior hairline; large fontanelle at birth,open at 4y; mildly arched eyebrows, synophrys, no long eyelashes, hypertelorism, telecanthus, no ptosis, hooding of lids; depressed nasal bridge, anteverted nostrils, long philtrum, no smooth philtrum, broad/bulbous nasal tip; no thin upper lip, downturned corners mouth, widely spaced teeth, gap between upper incisors, mild micrognathia/retrognathia ; nasal regurgitation; , hirsutism, no nevus flameus; small hands, no clinodactyly 5th finger, no single transverse palmar crease; small feet, syndactyly toes; no restriction elbow movements; osteopenia, bunions; caridac defect, pulmonic stenosis; genitourinary defect, posterior urethral valves, cryptorchidism, renal dysplasia, with chronic disease; severe gastroesophageal reflux with fundoplication and GT; feeding problems infancy, dumping syndrome; hearing loss, hearing loss with bilateral Mondini malformations; tubes; MRI brain history CNS bleed, periventriular leukomalacia, thin corpus callosum, small pituitary; delayed speech; delayed motor development, not walking-10y; laryngotracheomalacia, mother IQ70, also with 1.4Mb 17q12 dup (Dad being tested at Athena); birth 35w, birth weight 1360g (SD -2), length 38.1cm (SD -4); weight 12.7kg (Z -2,3), height 90.8cm (Z -2,7), OFC 46.8cm (SD -2,1); no obesity 1 1 Johan den Dunnen
00303195 CDL418P PubMed: Kaiser 2014 - F - - - - - - - CDLS severe; no brachycephaly; low anterior hairline; mildly arched eyebrows, synophrys, long eyelashes, no hypertelorism, telecanthus, ptosis, myopia, lacrimal duct obstruction, hooding of lids; no depressed nasal bridge, anteverted nostrils, no long philtrum, no smooth philtrum, broad/bulbous nasal tip; no thin upper lip, no downturned corners mouth, high arched palate, cleft palate, submucous, no widely spaced teeth, no gap between upper incisors, micrognathia/retrognathia; no short neck; facial asymmetry; cutis marmorata, hirsutism, no nevus flameus; small hands, no proximally set thumbs, no clinodactyly 5th finger, no single transverse palmar crease; small feet, syndactyly toes 2,3 bilateral; no restriction elbow movements; leg length discrepancy, hips asymmetric; caridac defect, VSD s/p repair; no genitourinary defects; gastroesophageal reflux; feeding problems in infancy ; no hearing loss; seizures, grand mal; severe intellectual disability; aggression, self-injurious; has some words; delayed but not too behind; birth (40)w, birth weight 2500g (SD -2), length 48cm (SD -1), OFC 31.75cm (SD -1,6); weight 52.4kg (Z -0,7), height 143.4cm (Z -3), OFC 12y 45.8cm (SD -5); 1 1 Johan den Dunnen
00303196 R24E11 PubMed: Kaiser 2014 - F - - - - - - - CDLS moderate; no brachycephaly; low anterior hairline; large anterior fontanelle, 2 posterior fontanelles; no arched eyebrows, synophrys, no long eyelashes, hypertelorism, telecanthus, no ptosis, no myopia, no lacrimal duct obstruction, hooding of lids; depressed nasal bridge, anteverted nostrils, long philtrum, smooth philtrum, broad/bulbous nasal tip; no thin upper lip, no downturned corners mouth, no high arched palate, no gap between upper incisors, delayed loss of primary dentition, double tooth in front, micrognathia/retrognathia; Short upturned nose; no cutis marmorata, hirsutism, nevus flameus; small hands, proximally set thumbs, no clinodactyly 5th finger, short 5th finger; small feet, no syndactyly toes; no caridac defects; no genitourinary defects; feeding problems in infancy ; hearing loss; no anomalies CNS; no seizures ; moderate intellectual disability; pleasant, anxious; speech 1st words after 2 years, reasonable understanding, speaks in short grammatically immature sentences; walk-30m; birth 41w, birth weight 2608g (SD -1,3)), OFC 30.5cm (SD -3); weight 3.3y 10.8kg (Z -2,7), height 1.7y 71.1cm (Z -3,1), OFC 47.3cm (SD -1,1); no obesity 1 1 Johan den Dunnen
00303197 CDL279P PubMed: Deardorff 2012, PubMed: Kaiser 2014 - F - - - - - - - CDLS severe; brachycephaly; low anterior hairline; arched eyebrows, synophrys, long eyelashes, hypertelorism, no telecanthus, no ptosis, lacrimal duct obstruction; depressed nasal bridge, anteverted nostrils, long philtrum, smooth philtrum, no broad/no bulbous nasal tip; thin upper lip, downturned corners mouth, no high arched palate, no cleft palate, widely spaced teeth, gap between upper incisors, micrognathia/retrognathia; short neck; , hirsutism, no nevus flameus; small hands, proximally set thumbs, short 5th finger, single transverse palmar crease; small feet, syndactyly toes 2,3 left, 1,2 right; patellae not palpated; caridac defect, pulmonary stenosis; anterior anus; unilateral hearing loss; no anomalies CNS; seizures (meningitis); severe intellectual disability; delayed speech; birth 40w, birth weight 2280g (SD -2), length 43cm (SD -3), OFC 30cm (SD -3); no obesity 1 1 Johan den Dunnen
00303198 CDLX1249P PubMed: Kaiser 2014 - F - - - - - - - CDLS mild; brachycephaly, orthotic helmet; no low anterior hairline, widow's peak; arched eyebrows, synophrys, long eyelashes, hypertelorism, telecanthus, no ptosis, myopia, no lacrimal duct obstruction, hooding of lids, astigmatism; depressed nasal bridge, anteverted nostrils, long philtrum, no smooth philtrum, broad/bulbous nasal tip; no thin upper lip, no downturned corners mouth, no high arched palate, no cleft palate, widely spaced teeth, gap between upper incisors, delayed eruption, micrognathia/retrognathia; no short neck; grimacing smile; no cutis marmorata, no hirsutism, nevus flameus, Hair and nails grow slowly; small hands, proximally set thumbs, no single transverse palmar crease; syndactyly toes 2,3; no restriction elbow movements; mild pectus carniatum, sacral dimple ; no caridac defects; genitourinary defect, Vesicoureteral reflux s/p surgical correction. Hypertension, renal cysts; gastroesophageal reflux; hiatal hernia; hearing loss, mild left SNHL; no anomalies CNS; 6m-possible seizure; intellectual disability; trouble staying asleep; speech 3.5y-no words, 10 gestures, 4y3m-25 words; rolled-10m, sat-12m, crawl-14m, walk-24m; prenatal: 2 vessel cord, late IUGR; birth 38w, birth weight 2330g (SD -1,3), length 47cm (SD -0,6), OFC 31.5cm (SD -1,3); weight 13.8kg (Z -1,4), height 95cm (Z -1,7), OFC 47cm (SD -1,7); no obesity 1 1 Johan den Dunnen
00303199 CDL426P PubMed: Deardorff 2012, PubMed: Kaiser 2014 - M - - - - - - - CDLS severe; brachycephaly; low anterior hairline; arched eyebrows, synophrys, hypertelorism, no telecanthus, severe myopia, lacrimal duct obstruction, hooding of lids; no depressed nasal bridge, anteverted nostrils, no long philtrum, smooth philtrum, no broad/no bulbous nasal tip; no thin upper lip, downturned corners mouth, no cleft palate, no gap between upper incisors, retained primary dentition, micrognathia/retrognathia; short neck; , hirsutism, nevus flameus; small hands, proximally set thumbs, clinodactyly 5th finger; small feet, syndactyly toes 2,3; no restriction elbow movements; normal patellae; caridac defect, ASD closed to atrial septal aneurysm; no genitourinary defects; severe gastroesophageal reflux with fundoplication and GT; feeding problems in infancy ; bilateral sensorineural hearing loss; seizures, rare absence and tonic-clonic; hypertonic, very strong; severe intellectual disability; happy, good eye contact; 9-no words; delayed motor development; splenomegaly (also in unaffected family members); birth 38w; weight 14kg (Z -1,4), height 89,5cm (Z -3,1), OFC 45cm (SD -3,1); no obesity 1 1 Johan den Dunnen
00303200 CDL248P PubMed: Deardorff 2012, PubMed: Kaiser 2014 - F - - - - - - - CDLS severe; brachycephaly; low anterior hairline; 17m-open fontanelle; arched eyebrows, synophrys, no long eyelashes, no hypertelorism, telecanthus, no ptosis, myopia, no lacrimal duct obstruction, hooding of lids; depressed nasal bridge, anteverted nostrils, no long philtrum, no smooth philtrum, broad/bulbous nasal tip; no thin upper lip, downturned corners mouth, no high arched palate, no cleft palate, no widely spaced teeth, no gap between upper incisors, no micrognathia/no retrognathia; no short neck; no cutis marmorata, no hirsutism, no nevus flameus, pigmentary mosaicism; small hands, proximally set thumbs, no clinodactyly 5th finger, very short 5th finger, no single transverse palmar crease; small feet, syndactyly toes 2,3 bilateral; no restriction elbow movements; leg length difference, two blind sacral dimples; no caridac defects, small PFO; genitourinary defect, ureteral reflux; gastroesophageal reflux; feeding problems in infancy ; bilateralhearing loss; MRI brain delayed myelination of temporal and occipital region, subarachnoid cyst; no seizures, EEG with discontinuous background; intellectual disability; happy, introverted; delayed speech; DQ 50; birth 36w, birth weight 1545g (SD -2), length 38cm (SD -4); weight 6,02kg (Z -6,5), height 66.9cm (Z -3,9), OFC 40.5cm (SD -4,5); no obesity 1 1 Johan den Dunnen
00303201 CDL326AS PubMed: Deardorff 2012, PubMed: Kaiser 2014 - F - - - - - - - CDLS mild; no brachycephaly; no low anterior hairline; arched eyebrows, synophrys, long eyelashes, no hypertelorism, no telecanthus, no ptosis, no myopia, no lacrimal duct obstruction, no hooding of lids, strabismus; no depressed nasal bridge, no anteverted nostrils, no long philtrum, no smooth philtrum, no broad/no bulbous nasal tip; no thin upper lip, no downturned corners mouth, no high arched palate, no cleft palate, widely spaced teeth, gap between upper incisors, large incisors, no micrognathia/no retrognathia; no short neck; no cutis marmorata, no hirsutism, no nevus flameus; no small hands, no proximally set thumbs, no clinodactyly 5th finger, no short 5th finger, no single transverse palmar crease; no small feet, no syndactyly toes; no restriction elbow movements; no caridac defects; no genitourinary defects; no gastroesophageal reflux; no feeding problems in infancy ; no hearing loss; no anomalies CNS; no seizures ; mild intellectual disability, sit-7m, walk-23m, talked late ; delayed speech; delayed motor development; birth 40w, birth weight 2870g (SD -0,6), length 48cm (SD -1); weight 24kg (Z -0,5), height 124cm (Z -0,8), OFC 50.8cm (SD -0,1); no obesity 1 1 Johan den Dunnen
00303202 CDL326P PubMed: Deardorff 2012, PubMed: Kaiser 2014 - M - - - - - - - CDLS severe; brachycephaly; low anterior hairline, widow's peak; arched eyebrows, synophrys, no long eyelashes, hypertelorism, telecanthus, no ptosis, no myopia, no lacrimal duct obstruction, hooding of lids; no depressed nasal bridge, anteverted nostrils, no long philtrum, no smooth philtrum, no broad/no bulbous nasal tip; no thin upper lip, downturned corners mouth, no high arched palate, no cleft palate, no widely spaced teeth, gap between upper incisors, large incisors, no micrognathia/no retrognathia; short neck; macrostomia, spur on mandible xray ; cutis marmorata, hirsutism, nevus flameus; very small hands, proximally set thumbs, clinodactyly 5th finger, short 5th finger, no single transverse palmar crease; small feet, no syndactyly toes; no restriction elbow movements; contractures of knees, flat feet; no caridac defects; genitourinary defect, cryptorchidism, genital hypoplasia; gastroesophageal reflux; feeding problems infancy, gastrostomy; hearing loss; no anomalies CNS; seizures ; intellectual disability, IQ<50; 13y-no speech; delayed motor development, not walking-13y; birth 39w, birth weight 1690g (SD -3), length 41cm (SD -4); no obesity 1 1 Johan den Dunnen
00303203 family PubMed: Harakalova 2012 5-generation family, 14 affected (7F, 7M) - - Netherlands - - - - - ID intellectual disability, truncal obesity, gynaecomastia, hypogonadism, dysmorphic face 1 14 Johan den Dunnen
00303204 patient PubMed: Feng 2015 2-generation family, 1 affected, unaffected non-carrier parents F - China - - - - - CDLS see paper; ..., typical CdLS 1 1 Johan den Dunnen
00380778 ? PubMed: Nair 2018 - ? - Lebanon - - - - - CDLS5 DD; ID; dysmorphic features; microcephaly (Multiple systems) 1 1 LOVD
00380779 ? PubMed: Nair 2018 - ? - Lebanon - - - - - CDLS5 DD; ID; hirsutism; short stature; microcephaly (Multiple systems) 1 1 LOVD
00387742 M260 PubMed: Hu 2019 family, 3 affected individuals, first cousin parents - yes Iran Persia - - - - ID syndromic intellectual disability, no microcephaly 1 3 Johan den Dunnen
00415289 2_XL PubMed: Alfares 2018 - F - - - - - - - retinal disease OMIM: 300882; developmental delay, hypotonia, clinodactyly, downturned corners of the mouth, triangular face, and long philtrum 1 1 LOVD
Legend   How to query  

  Powered by LOVD v.3.0 Build 29
LOVD software ©2004-2023 Leiden University Medical Center 		There are currently no updates.