Disease #06961 (del 1p36 (chromosome deletion syndrome 1p36, distal), OMIM:607872)

Official abbreviation del 1p36
Name chromosome deletion syndrome 1p36, distal
OMIM ID 607872
Human Phenotype Ontology Project (HPO) HPO
Inheritance -
Individuals reported having this disease 31
Phenotype entries for this disease 31
Associated with 0 genes -
Associated tissues -
Disease features -
Remarks -
Date created 2022-08-26 10:20:43 +02:00 (CEST)
Date last edited N/A


Individuals

31 entries on 1 page. Showing entries 1 - 31.
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00416258 Pat42 PubMed: Shimada 2015, PubMed: Fregeau 2016 - F - - - - - - - del 1p36 severe intellectual disability, hypotonia, feeding difficulty; cortical dysplasia, enlarged lateral ventricles, hypoplastic corpus callosum; patent ductus arteriosus, ventricular septal defect; hearing loss; cleft lip and palate; dislocated hip - RERE 1 1 Johan den Dunnen
00416259 Pat1p105-C PubMed: Paciorkowski 2011, PubMed: Fregeau 2016 - - - - - - - - - del 1p36 trichotillomania, bruxism; infantile spasms - RERE 1 1 Johan den Dunnen
00416260 Pat44 PubMed: Shimada 2015, PubMed: Fregeau 2016 - F - - - - - - - del 1p36 severe intellectual disability, hypotonia, feeding difficulty, temper tantrums; seizures; patent ductus arteriosus; nystagmus; hearing loss; cleft lip and palate; late closing anterior fontanelle, straight eyebrows; dental anomalies, hypothyroidism, constipation, ambiguous genitalia - RERE 1 1 Johan den Dunnen
00416261 Pat45 PubMed: Shimada 2015, PubMed: Fregeau 2016 - M - - - - - - - del 1p36 severe intellectual disability, hypotonia, feeding problems; seizures, infantile spasms; cortical hypoplasia, enlarged lateral ventricles, delayed myelination; ventricular septal defect, aortic stenosis; nystagmus; hearing loss; high palate; microcephaly, deeply set eyes, epicanthal folds, low-set ears, broad nasal root/bridge; ambiguous genetalia, cryptoorchidism, scrotal hypoplasia - RERE 1 1 Johan den Dunnen
00416262 Pat46 PubMed: Shimada 2015, PubMed: Fregeau 2016 - F - - - - - - - del 1p36 severe intellectual disability severe, hypotonia, feeding difficulty, poor social interaction; enlarged lateral ventricels; ventricular septal defect; left ventricular non-compaction; strabismus, ametropia, oculomotor disturbance; high palate; limb deformity - RERE 1 1 Johan den Dunnen
00416263 Pat1 PubMed: Campeau 2008, PubMed: Fregeau 2016 - F - - - - - - - del 1p36 developmental delay, hypotonia, ; single febrile seizure; enlarged lateral and third ventricles, bilateral colpocephaly, moderate to severe non-obstructive hydrocephalus; atrial septal defect,ventricular septal defect, patent ductus arteriosus, distal aortic arch hypoplastic; sensorineural hearing loss; submucosal cleft palate, velapharyngeal incompetence; prominent occiput, high forehead, large anterior fontanel, flat facial profile, deeply set eyes, narrow palpebral fissures, abnoramal, low-set, posteriorly-rotated ears, small nose, broad nasal root, micrognathia, left single palmar crease, short femurs; hypothyroidism, severe gastroesophageal reflux, decreased ossification of the skull and cervical spine, left pes cavus, calcaneovalgus deformity - RERE 1 1 Johan den Dunnen
00416264 - PubMed: Bursztejn 2009, PubMed: Fregeau 2016 - F - - - - - - - del 1p36 developmental delay; partial seizures, infantile spasms; cerebral malformations, agenesis of the corpus callosum, ventriculomegaly; atrial septal defect, ventricular septal defect; bilateral pupillary coloboma; deeply set eyes, low-set, posteriorly-rotated ears, brachydactyly, hirsuitism - RERE 1 1 Johan den Dunnen
00416265 Pat49 PubMed: Shimada 2015, PubMed: Fregeau 2016 - F - - - - - - - del 1p36 severe iintellectual disability, hypotonia, feeding difficulty; seizures; ebstein anomaly; microphthalmia; hearing loss; high palate; microcephaly, brachycephaly, straight eyebrows, deeply set eyes, epicanthal folds, low-set ears, broad nasal root/bridge, long philtrum, pointed chin; atresia of exterenal acoustic foramen - RERE 1 1 Johan den Dunnen
00416266 Pat6 PubMed: Arndt 2013, PubMed: Fregeau 2016 - F - - - - - - - del 1p36 developmental delay, hypotonia; atrial septal defect; left ventricular non-compaction; deeply set eyes, microcephaly - RERE 1 1 Johan den Dunnen
00416267 - PubMed: Nicoulaz 2011, PubMed: Fregeau 2016 - - - - - - - - - del 1p36 ; ventriculomegaly, marked pachygyria, absent septum pellucidum, thinned corpus callosum; tetralogy of Fallot; deeply set eyes, small palpebral fissures, low-set ears with thickened helices, camptodactyly, joint contractures, pointed chin; intestinal obstruction with suspected deudenal atresia - RERE 1 1 Johan den Dunnen
00416268 Pat47 PubMed: Shimada 2015, PubMed: Fregeau 2016 - F - - - - - - - del 1p36 severe intellectual disability severe, hypotonia, feeding difficulty; seizures; enlarged lateral venticles, hypoplastic corpus callosum; ventricular septal defect; nystagmus; microcephaly, deeply set eyes, low-set ears, broad nasal root/bridge, pointed chin; scoliosis, nasal cavity stenosis - RERE 1 1 Johan den Dunnen
00416269 Pat48 PubMed: Shimada 2015, PubMed: Fregeau 2016 - F - - - - - - - del 1p36 hypotonia, feeding difficulties; seizures; enlarged lateral ventricles, delayed mylenation, hypoplastic corpus callosum; atrial septal defect, patent ductus arteriosus, ventricular septal defect, pulmonary stenosis, ebstein anomaly; ametropia; microcephaly, brachycephaly, epicanthal folds, low-set ears, broad nasal root/bridge; scoliosis - RERE 1 1 Johan den Dunnen
00416270 DECIPHER 2353 PubMed: Fregeau 2016 - F - United Kingdom (Great Britain) - - - - - del 1p36 intellectual disability, spasticity, dysphagia; seizures; cardiomyopathy; myopia; sensorineural hearing loss; abnormality of midface, gingival overgrowth - RERE 1 1 Johan den Dunnen
00416271 1P-11-01 PubMed: Fregeau 2016 - F - United States - - - - - del 1p36 intellectual disability, developmental delay, feeding difficultites; intractable seizure disorder; patent ductus arteriosus; stones (medication related?); high compound myopic astigmatism, mild ptosis, occasional nystagmus; ears are low-set; brachycephaly, deeply set eyes, narrow palate, small hands and feet, joint contractures, low posterior hairline, hirsutism; short stature, central obesity, liver nodules, precoious puberty, premature ovarian failure, scoliosis - RERE 1 1 Johan den Dunnen
00416272 ECARUCA 4725 PubMed: Fregeau 2016 - F - - - - - - - del 1p36 feeding difficulty; patent ductus arteriosus, ventricular septal defect; microcephaly, hypertelorism, prominent ears, depressed/flat nasal bridge, short neck, wide-spaced nipples, sacral dimple/sinus, proximally-set halluces; hiatal hernia - RERE 1 1 Johan den Dunnen
00416273 Pat3 PubMed: Kang 2007, PubMed: Fregeau 2016 - F - - - - - - - del 1p36 hypotonia; atrial septal defect, patent ductus arteriosus, ventricular septal defect, cleft mitral valve, redundant tricuspid valve leaflets, mild pulmonary valve stenosis; severe biventricular hypertrophy; sensorineural hearing loss; bilateral cleft lip and palate; microcephaly, prominence of forehead and perietal bones, broad face, hypertelorism, epicanthal folds, bushy, arched eyebrows, posteriorly rotated ears, wide nose with a split appearance to the tip, digital contractures, hirsutism; bilateral nasolacrimal duct obstruction, gastroesophageal reflux - RERE 1 1 Johan den Dunnen
00416274 Pat16 PubMed: Arndt 2013, PubMed: Fregeau 2016 - M - - - - - - - del 1p36 intellectual disability, developmental delay; ventricular septal defect; cardiomyopathy, transient heart failure; ptosis; microcephaly, hirsutism - RERE 1 1 Johan den Dunnen
00416275 ECARUCA 4874 PubMed: Fregeau 2016 - M - - - - - - - del 1p36 severe intellectual disability, speech delay, ataxia, abnormal gait,; seizures; microcephaly; proportionate short stature, enlarged joints, joint stiffness/arthiritis/gout, hyperkeratosis, hyphydrotic or dry skin, erythema - RERE 1 1 Johan den Dunnen
00416276 Pat5 PubMed: Kang 2007, PubMed: Fregeau 2016 - F - - - - - - - del 1p36 intelleculal disability, developmental delay, feeding difficulty, ataxic unsteady gait with frequent falls, hypertonia, severe hyperactivity; tonic clonic seizures; partial anomalous pulmonary venous return with the left pulmonary veins draining into the innominate vein, wolf-parkinson-white; right-sided ptosis; microcephaly, midface hypoplasia, bushy eyebrows, long eyelashes, downslanting palpebral fissures, borderline low-set ears, depressed nasal bridge, prominent mandible, pointy chin, hirsutism; prenatal short stature, failure to thrive, hemivertebra at T9 - RERE 1 1 Johan den Dunnen
00416277 DECIPHER 255695 PubMed: Fregeau 2016 - M - United Kingdom (Great Britain) - - - - - del 1p36 intelectual disability; facial abnormalities - RERE 1 1 Johan den Dunnen
00416278 DECIPHER 2483 PubMed: Fregeau 2016 - F - United Kingdom (Great Britain) - - - - - del 1p36 intelectual disability, developmental delay, feeding difficulty; secundum atrial septal defect; submucous cleft of the hard palate; microcephaly, mid-face retrusion, hypertelorism, prominent ears, down-turned corners of mouth, thick upper lip vermillion, thin lower lip vermillion; scoliosis - RERE 1 1 Johan den Dunnen
00416279 Pat2 PubMed: Kang 2007, PubMed: Fregeau 2016 - M - - - - - - - del 1p36 developmental delay, peripheral hypertonia; generalized tonic clonic seizures; enlarged cerebrospinal fluid spaces; two small right coronary artery fistulae terminating in the left atrium and right ventricle; microcephaly, prominent forehead, hypertelorism, epicanthal folds, high arched eyebrows, synophrys, long eyelashes, posteriorly rotated ears, overfolded helices, upturned nose, short neck, bilateral fifth finger clinodactyly, hirsuitims; gastroesophageal reflux - RERE 1 1 Johan den Dunnen
00416280 DECIPHER 2848 PubMed: Fregeau 2016 - F - United Kingdom (Great Britain) - - - - - del 1p36 intellectual diability - RERE 1 1 Johan den Dunnen
00416281 DECIPHER 250349 PubMed: Fregeau 2016 - M - United Kingdom (Great Britain) - - - - - del 1p36 intelectual disability; microcephaly, abnormality of the face, abnormal hair pattern; cryptorchidism - RERE 1 1 Johan den Dunnen
00416282 Pat50 PubMed: Shimada 2015, PubMed: Fregeau 2016 - F - - - - - - - del 1p36 severe intellectual disability severe, hypotonia, feeding difficulty; patent ductus arteriosus; strabismus; high palate; microcephaly, brachycephaly, epicanthal folds, low-set ears, broad nasal root/bridge; scoliosis - RERE 1 1 Johan den Dunnen
00416283 1P-08-01 PubMed: Fregeau 2016 - F - United States - - - - - del 1p36 developmental delay, ataxia, dyspraxia, wide-based gait; Brown syndrome, amblyopia - RERE 1 1 Johan den Dunnen
00416284 DECIPHER 255591 PubMed: Fregeau 2016 - F - United Kingdom (Great Britain) - - - - - del 1p36 intelectual disability, speech delay; microcephaly, localized hirsutism; abnormal stomach - RERE 1 1 Johan den Dunnen
00416285 DECIPHER 248448 PubMed: Fregeau 2016 - M - United Kingdom (Great Britain) - - - - - del 1p36 developmental delay, intellectual diability, feeding difficulty; mild pulmonary valve stenosis; sensorineural hearing loss; brachycephaly, flat occiput, mid-face retrusion, long eyelashes, prominent ear helix, flat nose, wide nasal bridge, hypoplastic philtrum, thin upper lip vermilion, abonormal mouth, broad thumbs, short phalanges, coarse hair, abnormal hair pattern, low posterior hairline; laryngomalacia, recurrent infections, cryptorchidism, proportionate short stature - RERE 1 1 Johan den Dunnen
00416286 DECIPHER 252259 PubMed: Fregeau 2016 - F - United Kingdom (Great Britain) - - - - - del 1p36 intelectual disability, speech delay; abnormal hair pattern; recurrent infections - RERE 1 1 Johan den Dunnen
00416287 Pat4 PubMed: Kang 2007, PubMed: Fregeau 2016 - M - - - - - - - del 1p36 developmental delay, hypotonia; small septum secundum atrial septal defect, perimembranous ventricular septal defect; dilated cardiomyopathy; frontal and parietal bossing, mild bitemporal narrowing, broad arched eyebrows with sparse appearance, short palpebral fissures, protruding ears, broad nasal bridge, mildly anteverted small nares, broad columella, smooth philtrum, bowed upper lip, high arched palate, prominent chin, short sternum, second and fifth digits with mild bilateral clinodactyly, short digits with mild bulbous finger tips, hirsutism; failure to thrive - RERE 1 1 Johan den Dunnen
00416288 Pat6 PubMed: Zaveri 2014 - F - - - - - - - del 1p36 ventricular septal defect; microcephaly - RERE 1 1 Johan den Dunnen
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