Disease #05162 (DD (developmental delay (DD)))

Official abbreviation DD
Name developmental delay (DD)
OMIM ID -
Inheritance -
Individuals reported having this disease 267
Phenotype entries for this disease 232
Associated with 2 genes CACNA1E, PIGU
Associated tissues -
Disease features -
Remarks -
Date created 2016-05-10 21:15:54 +02:00 (CEST)
Date last edited 2020-05-25 13:52:33 +02:00 (CEST)


Individuals

267 entries on 3 pages. Showing entries 1 - 100.
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00064744 - PubMed: Petrovski 2016, Journal: Petrovski 2016 - M - United States Jewish-Ashkenazi >08y06m - - - DD see paper; ..., global developmental delay (HP:0001263), hypotonia (HP:0001252), intellectual disability (HP:0001249), early onset hypotonia (HP:0008947), attention deficit hyperactivity disorder (HP:0007018), hypsarrhythmia by eeg (HP:0002521), vocal tics (HP:0100035), motor tics (HP:0100034), anxiety disorder (HP:0100852) GNB1 GNB1 1 1 Johan den Dunnen
00064745 - PubMed: Petrovski 2016, Journal: Petrovski 2016 - M - United States Jewish-Ashkenazi;Jewish-Sephardic >00y13m - - - DD see paper; ..., global developmental delay (HP:0001263), hypotonia (HP:0001252), seizures (HP:0001250), growth delay (HP:0001510), strabismus (HP:0000486), feeding difficulties (HP:0011968), EEG with generalized epileptiform discharges (HP:0011198), early onset hypotonia (HP:0008947), infantile spasms (HP:0012469) GNB1 GNB1 1 1 Johan den Dunnen
00064746 - PubMed: Petrovski 2016, Journal: Petrovski 2016 - M - United States Jewish-Ashkenazi;Jewish-Sephardic >05y - - - DD see paper; ..., global developmental delay (HP:0001263), hypotonia (HP:0001252), seizures (HP:0001250), growth delay (HP:0001510), failure to thrive (HP:0001508), feeding difficulties (HP:0011968), cortical visual impairment (HP:0100704), early onset hypotonia (HP:0008947), abnormal auditory evoked potentials (HP:0006958), generalized seizures (HP:0002197), polymicrogyria (HP:0002126), delayed myelination (HP:0012448) GNB1 GNB1 1 1 Johan den Dunnen
00064747 - PubMed: Petrovski 2016, Journal: Petrovski 2016 - F - - Africa, north >04y - - - DD see paper; ..., global developmental delay (HP:0001263), hypotonia (HP:0001252), growth delay (HP:0001510), limb hypertonia (HP:0002509), failure to thrive (HP:0001508), cleft palate (HP:0000175), delayed speech and language development (HP:0000750), dystonia (HP:0001332), infantile axial hypotonia (HP:0009062), congenital hypothyroidism (HP:0000851), adducted thumb (HP:0001181), abnormality of ocular smooth pursuit (HP:0000617), stridor (HP:0010307), limb dystonia (HP:0002451) GNB1 GNB1 1 1 Johan den Dunnen
00064748 - PubMed: Petrovski 2016, Journal: Petrovski 2016 - M no - European >19y - - - DD see paper; ..., global developmental delay (HP:0001263), seizures (HP:0001250), multifocal eeg abnormality (HP:0010841), intellectual disability (HP:0001249), developmental regression (HP:0002376), focal seizures with impairment of awareness (HP:0002384), generalized tonic-clonic seizures (HP:0002069), eeg with generalized epileptiform discharges (HP:0011198), absence seizures (HP:0002121), autism (HP:0000717), infantile spasms (HP:0012469), status epilepticus (HP:0002133), generalized tonic seizures (HP:0010818), hypsarrhythmia by eeg (HP:0002521), behavioural abnormality (HP:0000708) GNB1 GNB1 1 1 Johan den Dunnen
00064749 - PubMed: Petrovski 2016, Journal: Petrovski 2016 - F no - European >17y - - - DD see paper; ..., global developmental delay (HP:0001263), hypotonia (HP:0001252), seizures (HP:0001250), intellectual disability (HP:0001249), generalized tonic-clonic seizures (HP:0002069), absence seizures (HP:0002121), status epilepticus (HP:0002133), febrile seizures (HP:0002373), atonic seizures (HP:0010819), focal seizures (HP:0007359), short philtrum (HP:0000322), tapered fingers (HP:0001182), joint hypermobility (HP:0001382), aggressive behaviour (HP:0000718), eeg with temporal sharp and slow waves (HP:0011289), hyperreflexia (HP:0001347), prominent upper incisors (HP:0000675), narrow hands (HP:0004283) GNB1 GNB1 1 1 Johan den Dunnen
00064750 - PubMed: Petrovski 2016, Journal: Petrovski 2016 - M no United States European >08y - - - DD see paper; ..., global developmental delay (HP:0001263), seizures (HP:0001250), limb hypertonia (HP:0002509), failure to thrive (HP:0001508), strabismus (HP:0000486), focal seizures with impairment of awareness (HP:0002384), hydronephrosis (HP:0000126), hemiplegia (HP:0002301), bilateral ureteropelvic junction obstruction (HP:0000074), high-arched palate (HP:0000218), pectus excavatum (HP:0000767), lower extremity weakness (HP:0007340), hemiclonic seizure (HP:0006813), eeg with burst suppression (HP:0010851), global brain atrophy (HP:0002283) GNB1 GNB1 1 1 Johan den Dunnen
00064751 - PubMed: Petrovski 2016, Journal: Petrovski 2016 - F no United States European;Filipino >20y - - - DD see paper; ..., global developmental delay (HP:0001263), hypotonia (HP:0001252), seizures (HP:0001250), expressive language delay (HP:0002474), strabismus (HP:0000486), developmental regression (HP:0002376), generalized tonic-clonic seizures (HP:0002069), autism (HP:0000717), macrocephaly (HP:0000256), postnatal macrocephaly (HP:0005490), esotropia (HP:0000565), eeg with temporal focal spikes (HP:0012018) GNB1 GNB1 1 1 Johan den Dunnen
00064752 - PubMed: Petrovski 2016, Journal: Petrovski 2016 - M no United States Mexican;Spanish;German >11y - - - DD see paper; ..., global developmental delay (HP:0001263), hypotonia (HP:0001252), attention deficit hyperactivity disorder (HP:0007018), delayed speech and language development (HP:0000750), cerebral palsy (HP:0100021), pes planus (HP:0001763) GNB1 GNB1 1 1 Johan den Dunnen
00064753 - PubMed: Petrovski 2016, Journal: Petrovski 2016 - M no United States European >04y - - - DD see paper; ..., global developmental delay (HP:0001263), hypotonia (HP:0001252), seizures (HP:0001250), multifocal eeg abnormality (HP:0010841), expressive language delay (HP:0002474), strabismus (HP:0000486), nystagmus (HP:0000639), inability to walk (HP:0002540), eeg with generalized epileptiform discharges (HP:0011198), tonic seizures (HP:0010818), macrocephaly (HP:0000256), dysphagia (HP:0002015), exotropia (HP:0000577), myoclonic seizures (HP:0002123), severe receptive language delay (HP:0011352) GNB1 GNB1 1 1 Johan den Dunnen
00064754 - PubMed: Petrovski 2016, Journal: Petrovski 2016 - M no - European 10y - - - DD see paper; ..., global developmental delay (HP:0001263), hypotonia (HP:0001252), seizures (HP:0001250), growth delay (HP:0001510), multifocal eeg abnormality (HP:0010841), expressive language delay (HP:0002474), inability to walk (HP:0002540)nystagmus (HP:0000639), developmental regression (HP:0002376), hydronephrosis (HP:0000126), asthma (HP:0002099) GNB1 GNB1 1 1 Johan den Dunnen
00064755 - PubMed: Petrovski 2016, Journal: Petrovski 2016 - M no United States European >06y - - - DD see paper; ..., global developmental delay (HP:0001263), hypotonia (HP:0001252), seizures (HP:0001250), growth delay (HP:0001510), multifocal eeg abnormality (HP:0010841), limb hypertonia (HP:0002509), feeding difficulties (HP:0011968), cortical visual impairment (HP:0100704), focal seizures with impairment of awareness (HP:0002384), dysphagia (HP:0002015), dystonia (HP:0001332), posteriorly rotated ears (HP:0000358), overfolded helices (HP:0000396), clenched hand position (HP:0001188), limited elbow extension (HP:0001377), sensorineural hearing loss (HP:0000407), neurogenic bladder (HP:0000011), eeg with occipital slowing (HP:0011210) GNB1 GNB1 1 1 Johan den Dunnen
00064756 - PubMed: Petrovski 2016, Journal: Petrovski 2016 - F no - Hispanic >04y - - - DD see paper; ..., global developmental delay (HP:0001263), hypotonia (HP:0001252), seizures (HP:0001250), growth delay (HP:0001510), multifocal eeg abnormality (HP:0010841), intellectual disability (HP:0001249), limb hypertonia (HP:0002509), expressive language delay (HP:0002474), failure to thrive (HP:0001508), feeding difficulties (HP:0011968), cortical visual impairment (HP:0100704), nystagmus (HP:0000639), inability to walk (HP:0002540), cleft palate (HP:0000175), infantile axial hypotonia (HP:0009062), myoclonus (HP:0001336) GNB1 GNB1 1 1 Johan den Dunnen
00065235 26942288 F1 A3 PubMed: Harel 2016, Journal: Harel 2016 2-generation family, 1 affected, unaffected heterozygous carrier parents M ? - European >04y - - - DD Global developmental delay (HP:0001263), Delayed speech and language development (HP:0000750), Seizures (HP:0001250), Scoliosis (HP:0002650), no microcephaly (Z score -1.6) (-HP:0000252), Short upper lip (HP:0000188), Mild hypertelorism (HP:0000316), retrognathia (HP:0000278), Muscular hypotonia of the trunk (HP:0008936), Limb hypertonia (HP:0002509), Hyporeflexia (HP:0001265), Dystonic posturing (HP:0002533), Cortical visual impairment (HP:0100704), Cerebellar atrophy (HP:0001272), Cerebral atrophy (HP:0002059), Corpus callosum atrophy (HP:0007371), laryngotracheomalacia (HP:0008755), Anal atresia (HP:0002023) EMC1 EMC1 1 1 Pieter Klap
00065236 26942288 F2 BAB3445 PubMed: Harel 2016, Journal: Harel 2016 3-generation family, 4 affecteds (2F, 2M), unaffected heterozygous carrier parents M yes Turkey - >13y - - - DD Global developmental delay (HP:0001263), Delayed speech and language development (HP:0000750), Scoliosis (HP:0002650), Microcephaly (Z score -4) (HP:0000252), Deeply set eye (HP:0000490), Gingival overgrowth (HP:0000212), Short philtrum (HP:0000322), Retrognathia (HP:0000278), Prominent fingertip pads (HP:0001212), Muscular hypotonia of the trunk (HP:0008936), Limb hypertonia (HP:0002509), Hyporeflexia (HP:0001265), Dystonic posturing (HP:0002533), Abnormality of visual evoked potentials (HP:0000649), Abnormal electroretinogram (HP:0000512), Cerebellar atrophy (HP:0001272), Cerebral atrophy (HP:0002059), Corpus callosum atrophy (HP:0007371) EMC1 EMC1 1 4 Pieter Klap
00065237 26942288 F2 BAB3446 PubMed: Harel 2016, Journal: Harel 2016 brother M yes Turkey - >05y - - - DD Global developmental delay (HP:0001263), Delayed speech and language development (HP:0000750), no seizures (-HP:0001250), Scoliosis (HP:0002650), Microcephaly (Z score -3.8) (HP:0000252), Deeply set eye (HP:0000490), Gingival overgrowth (HP:0000212), Short philtrum (HP:0000322), Retrognathia (HP:0000278), Prominent fingertip pads (HP:0001212), Muscular hypotonia of the trunk (HP:0008936), Limb hypertonia (HP:0002509), Hyporeflexia (HP:0001265), Dystonic posturing (HP:0002533), Abnormality of visual evoked potentials (HP:0000649), Abnormal electroretinogram (HP:0000512), Cerebellar atrophy (HP:0001272), Cerebral atrophy (HP:0002059), Corpus callosum atrophy (HP:0007371) EMC1 EMC1 1 1 Pieter Klap
00065238 26942288 F2 BAB4742 PubMed: Harel 2016, Journal: Harel 2016 niece F yes Turkey - >03y - - - DD Global developmental delay (HP:0001263), Delayed speech and language development (HP:0000750), Scoliosis (HP:0002650), Microcephaly (Z score -3.3) (HP:0000252), Deeply set eye (HP:0000490), Gingival overgrowth (HP:0000212), Short philtrum (HP:0000322), Retrognathia (HP:0000278), Prominent fingertip pads (HP:0001212), Muscular hypotonia of the trunk (HP:0008936), Limb hypertonia (HP:0002509), Hyporeflexia (HP:0001265), Dystonic posturing (HP:0002533), Abnormality of visual evoked potentials (HP:0000649), Abnormal electroretinogram (HP:0000512), Cerebellar atrophy (HP:0001272), Cerebral atrophy (HP:0002059), Corpus callosum atrophy (HP:0007371) EMC1 EMC1 1 1 Pieter Klap
00065240 26942288 F3 BAB6896 PubMed: Harel 2016, Journal: Harel 2016 2-generation family, 2 affected brotherss, unaffected heterozygous carrier parents M yes Saudi Arabia - >10y - - - DD Global developmental delay (HP:0001263), Delayed speech and language development (HP:0000750), no seizures (-HP:0001250), no scoliosis (-HP:0002650), no microcephaly (Z score 0) (-HP:0000252), Deeply set eye (HP:0000490), retrognathia (HP:0000278), Muscular hypotonia of the trunk (HP:0008936), no limb hypertonia (-HP:0002509), no dystonic posturing (-HP:0002533), esotropia (HP:0000565), Hypermetropia (HP:0000540), Astigmatism (HP:0000483), Cerebellar atrophy (HP:0001272), no cerebral atrophy (-HP:0002059), Corpus callosum atrophy (HP:0007371) EMC1 C12orf70, EMC1, MCRS1 3 2 Pieter Klap
00065241 26942288 F3 BAB6897 PubMed: Harel 2016, Journal: Harel 2016 brother M yes Saudi Arabia - >12y - - - DD Global developmental delay (HP:0001263), Delayed speech and language development (HP:0000750), no seizures (-HP:0001250), no scoliosis (-HP:0002650), no microcephaly (Z score 0) (-HP:0000252), Deeply set eye (HP:0000490), no muscular hypotonia of the trunk (-HP:0008936), no limb hypertonia (-HP:0002509), no hyporeflexia (-HP:0001265), no dystonic posturing (-HP:0002533) EMC1 EMC1 1 1 Pieter Klap
00065242 26942288 F4 BH14387_1 PubMed: Harel 2016, Journal: Harel 2016 2-generation family, 1 affected, unaffected non-carrier parents M no - - >12y - - - DD Global developmental delay (HP:0001263), Delayed speech and language development (HP:0000750), no seizures (-HP:0001250), Scoliosis (HP:0002650), no microcephaly (Z score -0.34) (-HP:0000252), Low anterior hairline (HP:0000294), Abnormality of the pinna (HP:0000377), Gingival overgrowth (HP:0000212), Micrognathia (HP:0000347), Muscular hypotonia of the trunk (HP:0008936), no limb hypertonia (-HP:0002509), Hyporeflexia (HP:0001265), no dystonic posturing (-HP:0002533), Myopia (HP:0000545), Optic atrophy (HP:0000648), Cerebellar atrophy (HP:0001272), mild cerebral atrophy (HP:0002059), Corpus callosum atrophy (HP:0007371), Vitiligo (HP:0001045), EMC1 EMC1, FAM47C, SHROOM4 3 1 Pieter Klap
00065264 26708751 F1_IV.1 PubMed: Stray-Pedersen A 2016, Journal: Stray-Pedersen A 2016 - F yes Iraq - >04y - - clonazepam DD, ID Muscular hypotonia (HP:0001252), Feeding difficulties (HP:0011968), Hypotonic facies (HP:0001999), Small hands (HP:0200055), Short foot (HP:0001773), Poor eye contact (HP:0000817), minimal interest in surroundings (HP:0000723), Generalized tonic-clonic seizures (HP:0002069), severe constipation (HP:0002019), no tactile aversion, Hypersensitivity for stimuli, Obstructive sleep apnea (HP:0002870), Hypoplasia of the corpus callosum (HP:0002079), non-specific myopathic changes on muscle biopsy (HP:0003198),; birth 41w, Birth weight (percentile) 3,000 g (25th), OFC at birth (percentile) 33 cm (25th),; severe intellectual disability (HP:0010864); severe global developmental delay (HP:0011344); motor delay (HP:0001270); no speech (HP:0001344) UNC80 UNC80 1 1 Pieter Klap
00065267 26708751 F2_V.5 PubMed: Stray-Pedersen A 2016, Journal: Stray-Pedersen A 2016 - F yes Morocco - >04y - - valproate, rivotril DD, ID Muscular hypotonia (HP:0001252), Feeding difficulties (HP:0011968), Hypotonic facies (HP:0001999), no small hands (-HP:0200055), no short foot (-HP:0001773), non-ambulatory (HP:0002540), Generalized tonic-clonic seizures (HP:0002069), severe constipation (HP:0002019), no tactile aversion, Hypersensitivity for stimuli, Sleep disturbance (HP:0002360),; birth 41w, Birth weight (percentile) 3,158 g (50th); severe intellectual disability (HP:0010864); severe global developmental delay (HP:0011344); motor delay (HP:0001270); no speech (HP:0001344) UNC80 UNC80 1 1 Pieter Klap
00065268 26708751 F3_II.1 PubMed: Stray-Pedersen A 2016, Journal: Stray-Pedersen A 2016 - F no Norway - >15y - - valproate, lamotrigine, levetiracetam, vagal nerve stimulator DD, ID Muscular hypotonia (HP:0001252), no feeding difficulties (-HP:0011968), esotropia (HP:0000565), Hypotonic facies (HP:0001999), Small hands (HP:0200055), Short foot (HP:0001773), sociable, content,interested in surroundings, Generalized myoclonic seizures (HP:0002123), Atonic seizures (HP:0010819), Generalized tonic-clonic seizures (HP:0002069), atypical absences (HP:0011150), severe constipation (HP:0002019), tactile aversion, Hypersensitivity for stimuli, no sleep disturbance (HP:0002360), mild scoliosis (HP:0002650),; birth 38w, Birth weight (percentile) 2,960 g (25th), OFC at birth (percentile) 32 cm (10th),; severe intellectual disability (HP:0010864); severe global developmental delay (HP:0011344); motor delay (HP:0001270); no speech (HP:0001344) UNC80 UNC80 2 1 Pieter Klap
00065269 26708751 F3_II.2 PubMed: Stray-Pedersen A 2016, Journal: Stray-Pedersen A 2016 - F no Norway - >10y - - valproate DD, ID Muscular hypotonia (HP:0001252), Feeding difficulties (HP:0011968), Hypotonic facies (HP:0001999), Small hands (HP:0200055), Short foot (HP:0001773), sociable, content, interested in surroundings, Atonic seizures (HP:0010819), atypical absences (HP:0011150), severe constipation (HP:0002019), tactile aversion, Hypersensitivity for stimuli, no sleep disturbance (-HP:0002360),; birth 40w, Birth weight (percentile) 3,070 g (25th), OFC at birth (percentile) 35 cm (75th),; severe intellectual disability (HP:0010864); severe global developmental delay (HP:0011344); motor delay (HP:0001270); no speech (HP:0001344) UNC80 UNC80 2 1 Pieter Klap
00074459 - Journal: McRae 2016 - F ? - - - - - - DD Female patient with delayed speech and language development,moderate global developmental delay and minor dysmorphic features. GABRA1 GABRA1 1 1 Bernt Popp
00074460 - Journal: McRae 2016 - F ? - - - - - - DD Female patient with seizures moderate global developmental delay and macrocephaly GABRA1 GABRA1 1 1 Bernt Popp
00074463 - PubMed: Iossifov 2014, Journal: Iossifov 2014 - M no - - - - - - DD Male patient wit autism spectrum disorder and developmental delay. GABRA1 GABRA1 1 1 Bernt Popp
00079657 - PubMed: Trump - F - United Kingdom (Great Britain) - - - - - DD - MECP2 MECP2 1 1 Henk van Kranen
00079659 - PubMed: Trump - F - United Kingdom (Great Britain) - - - - - DD - MECP2 MECP2 1 1 Henk van Kranen
00095419 - - - F yes Palestine - 06y - yes - DD Hypotonia, microcephaly, speech delay, renal disease (hypomagnesemia) OSGEP OSGEP 1 1 Asaf Ta-Shma
00147123 30631761-Pat88_S3 PubMed: Han 2018 - - - Korea - - - - - DD developmental delay, no epilepsy, hypotonia - SMARCB1 1 1 Joonhong Park
00147124 30631761-Pat47_S3 PubMed: Han 2018 - - - Korea - - - - - DD developmental delay, intellectual disability, no epilepsy, obesity, ADHD - CHD8 1 1 Joonhong Park
00147125 30631761-Pat35_S11 PubMed: Han 2018 - - - Korea - - - - - DD developmental delay, epilepsy, hypotonia LAMA5 LAMA5 1 1 Joonhong Park
00147126 30631761-Pat69_S7 PubMed: Han 2018 - - - Korea - - - - - DD developmental delay, intellectual disability, no epilepsy, overgrowth NSD1 NSD1 1 1 Joonhong Park
00147127 30631761-Pat41_S5 PubMed: Han 2018 - - - Korea - - - - - DD developmental delay, intellectual disability, no epilepsy, aniridria, ASD PAX6 PAX6 1 1 Joonhong Park
00147128 30631761-Pat36_S4 PubMed: Han 2018 - - - Korea - - - - - DD developmental delay, intellectual disability, epilepsy, ventricular septal defect. CACNA1H CACNA1H 1 1 Joonhong Park
00147129 30631761-Pat46_S3 PubMed: Han 2018 - - - Korea - - - - - DD developmental delay, intellectual disability, epilepsy, autism spectrum disorder MBD5 MBD5 1 1 Joonhong Park
00147130 30631761-Pat38_S2 PubMed: Han 2018 - - - Korea - - - - - DD developmental delay, intellectual disability, no epilepsy, autism spectrum disorder FOXP1 FOXP1 1 1 Joonhong Park
00151815 R_1133 - 2 - generation familly, 1 affected (proband, the only child), unaffected heterozygous carrier parents F no Poland white >07y - - depakine and levetiracetam DD Hypotonia, early HP:0008947; spasticity (HP:0001257); Seizures (HP:0001250); Hearing impairment (HP:0000365); Blindness (HP:0000618) PTPN23 PTPN23 2 3 Rafał Płoski
00155283 257982 PubMed: Pagnamenta 2017 - F no - white - - - - DD - - PGAP3 2 2 Philippe Campeau
00155284 - PubMed: Pagnamenta 2017 brother of individual 257982 M no - white - - - - DD - PGAP3 PGAP3 2 1 Philippe Campeau
00155285 IV-1 PubMed: Nampoothiri 2017 - M yes Oman - - - - - DD - - PGAP3 1 2 Philippe Campeau
00155286 IV-2 PubMed: Nampoothiri 2017 - F yes Oman - - - - - DD, HPMRS6;GPIBD12 - - PGAP3 1 1 Philippe Campeau
00163846 IV-1 PubMed: Pagnamenta 2018 DECIPHER ID 265247 M yes - Pakistani - - - - DD, epilepsy, microcephaly - - PIGH 1 2 Philippe Campeau
00163847 IV-2 PubMed: Pagnamenta 2018 - F yes - Pakistani - - - - DD, epilepsy, microcephaly - - PIGH 1 1 Philippe Campeau
00164989 family 1 PubMed: Krall 2019, Journal: Krall 2019 - - - - - - - - - DD see paper; ..., severe developmental delays with absent speech, cataracts and microphthalmia, facial anomalies with wide-set eyes, broad nasal bridge, down-turned corners of the mouth, pectus deformity and abnormal thumbs - INTS1 2 1 Anne Slavotinek
00164990 patients 3 and 4 PubMed: Krall 2019, Journal: Krall 2019 - - - - - - - - - DD see paper; ..., gait with increased tone; developmental delays/autism; facial anomalies with wide-set eyes, downslanting palpebral fissures, a flat nasal bridge and micrognathia; cataracts - INTS1 2 2 Anne Slavotinek
00164991 patient 5 PubMed: Krall 2019, Journal: Krall 2019 - - - - - - - - - DD see paper; ..., Failure to thrive with short stature; feeding difficulties and hypotonia in infancy; cataracts; frontal bossing; renal pelvicaliectasis; developmental delays - INTS1 3 1 Anne Slavotinek
00170832 P01 - - M no China - - - - - DD facial dysmorphism autism - BCL11B, CCDC85C, CCNK, SETD3 1 1 Yanjie Fan
00170833 P02 - - F no China - 09y - - - DD developmental delay facial dysmorphism - BCL11B, CCDC85C, CCNK, SETD3 1 1 Yanjie Fan
00170834 P03 - - F no China - 06y - - - DD - - BCL11B, C14orf177, CCDC85C, CCNK, CYP46A1, EML1, HHIPL1, SETD3 1 1 Yanjie Fan
00170835 P04 - - F no United States African 13y - - - DD facial dysmorphism clinodyctyly - CCNK 1 1 Yanjie Fan
00170836 R_1547 - - M no Poland - >05y - - - DD HP:0002033; HP:0002019; HP:0000682; HP:0001263; HP:0000750; HP:0002360; HP:0000733; HP:0003212 PTPN4 PTPN4 1 1 Rafał Płoski
00180898 - PubMed: Zweier 2019, Journal: Zweier 2019 - M no United Kingdom (Great Britain) - - - - - DD - - CYFIP2 1 1 Anaïs Begemann
00180900 - PubMed: Zweier 2019, Journal: Zweier 2019 - M - Germany - - - - - DD HP:0001250 - CYFIP2 1 1 Anaïs Begemann
00181081 - - - M - - - - - - - DD HP:0000252 HP:0001263 - FOXG1 1 1 Anaïs Begemann
00181522 Pat1 PubMed: Salpietro 2019 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - DD normal growth, normal OFC; hypotonia, developmental delay; severe intellectual disability; no epileptic seizures; EEG-high-voltage delta activity, sharp wave-slow wave complexes; autism spectrum disorder; RTT-like features stereotyped hand movements, absent purposeful hand movements; choreic movement, flapping, dystonic postures; central visual defects; no speech; MRI brain thin corpus callosum, delayed myelination; inability to walk - VAMP2 1 1 Stephanie Efthymiou
00181523 Pat2 PubMed: Salpietro 2019 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - DD normal growth, normal OFC; hypotonia, developmental delay; severe intellectual disability; focal seizures, generalized tonic-clonic seizures; EEG-fast rhythmic activity, sharp wave-slow wave complexes; autism spectrum disorder; RTT-like features body rocking, head banging, screaming, absent purposeful hand movements; generalized chorea; central visual defects; no speech; MRI brain unremarkable; abnormal behavior, self-injury, inability to walk - VAMP2 1 1 Stephanie Efthymiou
00181524 Pat3 PubMed: Salpietro 2019 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - DD normal growth, normal OFC; hypotonia, developmental delay; severe intellectual disability; infantile spasms, convulsive status epilepticus; EEG-disorganized paroxysms; autism spectrum disorder; RTT-like features stereotyped hand movements, absent purposeful hand movements; choreic movement, myoclonic jerks; central visual defects; no speech; MRI brain unremarkable; abnormal behavior, inability to walk, severe constipation - VAMP2 1 1 Stephanie Efthymiou
00181525 Pat4 PubMed: Salpietro 2019 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - DD normal growth, normal OFC; hypotonia, developmental delay; severe intellectual disability; focal seizures; EEG-generalized and multifocal abnormalities; autism spectrum disorder; RTT-like features stereotyped hand movements (wringing), absent purposeful hand movements; no movement disorder; no central visual defects; speech only 5–10 spoken words; MRI brain unremarkable; clumsiness, abnormal behavior - VAMP2 1 1 Stephanie Efthymiou
00181526 Pat5 PubMed: Salpietro 2019 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - DD normal growth, normal OFC; hypotonia, developmental delay; moderate intellectual disability; no epileptic seizures; EEG-disorganized paroxysms; autism spectrum disorder; RTT-like features stereotyped hand movements (washing); no movement disorder; no central visual defects; speech only 5 words; MRI brain unremarkable; abnormal behavior - VAMP2 1 1 Stephanie Efthymiou
00184078 30343943-Ind32 PubMed: Helbig 2018 unaffected heterozygous carrier father F - - - - - - - DD see paper; ..., milder phenotype, achieving independent ambulation at 15–18 months, acquiring single words CACNA1E CACNA1E 1 1 Johan den Dunnen
00184079 30343943-Ind33 PubMed: Helbig 2018 - M - - - - - - - DD see paper; ..., milder phenotype, achieving independent ambulation at 15–18 months, acquiring single words CACNA1E CACNA1E 1 1 Johan den Dunnen
00207331 12DG0223 PubMed: Alazami et al. 2015 - - yes - - - - - - DD Intractable seizure, developmental delay, and optic atrophy - PIGQ 1 1 Philippe Campeau
00218092 128850 - sister (MGZ# 128851) also affected M ? Germany - - - - - DD Profound global developmental delay (HP:0012736), Poor speech (HP:0002465), Abnormality of facial skeleton (HP:0011821), Growth abnormality (HP:0001507), biochemical Adenylosuccinase deficiency ADSL ADSL 2 1 Andreas Laner
00222801 CMH2 PubMed: Repnikova 2019 - M - United States - - - - - DD global developmental delay, non-verbal; microcephaly, delayed myelination, frontal narrowing, large ears with hypoplastic earlobes, low weight, scoliosis; Maternal half-brother: developmental delay, learning disabilities, non-verbal CNTN6 CNTN6 1 1 Elena Repnikova
00222898 30661771-Pat3 PubMed: Ganapathi 2019, Journal: Ganapathi 2019 2-generation family, 1 affected, unaffected heterozygous carrier parents F - United States Belgium/France (father), England/Ireland (mother) - - - - DD see paper; ..., developmental delay, focal seizures DHPS DHPS 2 1 Johan den Dunnen
00222956 30661771-Pat4 PubMed: Ganapathi 2019, Journal: Ganapathi 2019 2-generation family, 1 affected, unaffected non-carrier parents F no - France/Europe East;Ireland/England - - - - DD see paper; ..., global developmental delay, severe speech impairment, seizures, autism DHPS DHPS 2 1 Johan den Dunnen
00222957 30661771-Pat5 PubMed: Ganapathi 2019, Journal: Ganapathi 2019 2-generation family, 1 affected, unaffected non-carrier parents F no England;Slovakia (Slovak Republic) - - - - - DD see paper; ..., intellectual disability, seizures, difficulty in ambulation due to abnormal muscle tone lower extremities, uses wheelchair DHPS DHPS 2 1 Johan den Dunnen
00222958 30661771-Fam1Pat1/2 PubMed: Ganapathi 2019, Journal: Ganapathi 2019 2-generation family, affected sister/brother, unaffected non-carrier parents F;M no Ireland;Scotland;Sweden - - - - - DD see paper; ..., significant delay developmental milestones, intellectual disability, seizures DHPS DHPS 2 1 Johan den Dunnen
00231309 3 Konrad 2019, submitted - - - - - - - - - DD - - CTCF 1 1 Christiane Zweier
00231310 - Konrad 2019, submitted - - - - - - - - - DD - - CTCF 1 1 Christiane Zweier
00231311 - Konrad 2019, submitted - - - - - - - - - DD - - CTCF 1 1 Christiane Zweier
00231312 - Konrad 2019, submitted - - - - - - - - - DD - - CTCF 1 1 Christiane Zweier
00231313 - Konrad 2019, submitted - - - - - - - - - DD - - CTCF 1 1 Christiane Zweier
00231314 - Konrad 2019, submitted - - - - - - - - - DD - - CTCF 1 1 Christiane Zweier
00231315 - Konrad 2019, submitted - - - - - - - - - DD - - CTCF 1 1 Christiane Zweier
00231316 - Konrad 2019, submitted - - - - - - - - - DD - - CTCF 1 1 Christiane Zweier
00231317 - Konrad 2019, submitted - - - - - - - - - DD - - CTCF 1 1 Christiane Zweier
00231318 - Konrad 2019, submitted - - - - - - - - - DD - - CTCF 1 1 Christiane Zweier
00231319 - Konrad 2019, submitted - - - - - - - - - DD - - CTCF 1 1 Christiane Zweier
00231320 - Konrad 2019, submitted - - - - - - - - - DD - - CTCF 1 1 Christiane Zweier
00231321 - Konrad 2019, submitted - - - - - - - - - DD - - CTCF 1 1 Christiane Zweier
00231322 - Konrad 2019, submitted - - - - - - - - - DD - - CTCF 1 1 Christiane Zweier
00231323 - Konrad 2019, submitted - - - - - - - - - DD - - CTCF 1 1 Christiane Zweier
00231324 - Konrad 2019, submitted - - - - - - - - - DD - - CTCF 1 1 Christiane Zweier
00231325 - Konrad 2019, submitted - - - - - - - - - DD - - CTCF 1 1 Christiane Zweier
00231326 - Konrad 2019, submitted - - - - - - - - - DD - - CTCF 1 1 Christiane Zweier
00231327 - Konrad 2019, submitted - - - - - - - - - DD - - CTCF 1 1 Christiane Zweier
00231328 - Konrad 2019, submitted - - - - - - - - - DD - - CTCF 1 1 Christiane Zweier
00231329 - Konrad 2019, submitted - - - - - - - - - DD - - CTCF 1 1 Christiane Zweier
00231330 - Konrad 2019, submitted - - - - - - - - - DD - - CTCF 1 1 Christiane Zweier
00231331 - Konrad 2019, submitted - - - - - - - - - DD - - CTCF 1 1 Christiane Zweier
00231332 - Konrad 2019, submitted - - - - - - - - - DD - - CTCF 1 1 Christiane Zweier
00231333 - Konrad 2019, submitted - - - - - - - - - DD - - CTCF 1 1 Christiane Zweier
00231334 - Konrad 2019, submitted - - - - - - - - - DD - - CTCF 1 1 Christiane Zweier
00231335 - Konrad 2019, submitted - - - - - - - - - DD - - CTCF 1 1 Christiane Zweier
00231336 - Konrad 2019, submitted - - - - - - - - - DD - - CTCF 1 1 Christiane Zweier
00231338 - Konrad 2019, submitted - - - - - - - - - DD - - CTCF 1 1 Christiane Zweier
00231339 - Konrad 2019, submitted - - - - - - - - - DD - - CTCF 1 1 Christiane Zweier
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