Phenotypes for disease #05162 (DD (developmental delay (DD)))

232 entries on 3 pages. Showing entries 1 - 100.
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0000050902 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) - - Isolated (sporadic) 08y06m - - - - Johan den Dunnen 00064744
0000050903 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) - - Isolated (sporadic) 01y01m - - - - Johan den Dunnen 00064745
0000050904 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) - - Isolated (sporadic) 05y - - - - Johan den Dunnen 00064746
0000050905 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) - - Isolated (sporadic) 04y - - - - Johan den Dunnen 00064747
0000050906 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) - - Isolated (sporadic) 19y - - - - Johan den Dunnen 00064748
0000050907 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) - - Isolated (sporadic) 17y - - - - Johan den Dunnen 00064749
0000050908 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) - - Isolated (sporadic) 08y - - - - Johan den Dunnen 00064750
0000050909 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) - - Isolated (sporadic) 20y - - - - Johan den Dunnen 00064751
0000050910 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) - - Isolated (sporadic) 11y - - - - Johan den Dunnen 00064752
0000050911 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) - - Isolated (sporadic) 04y - - - - Johan den Dunnen 00064753
0000050912 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) - - Isolated (sporadic) 10y - - - - Johan den Dunnen 00064754
0000050913 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) - - Isolated (sporadic) 06y - - - - Johan den Dunnen 00064755
0000050914 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) - - Isolated (sporadic) 04y - - - - Johan den Dunnen 00064756
0000051342 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) - - Familial, autosomal recessive 04y - - - - Pieter Klap 00065235
0000051343 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) - - Familial, autosomal recessive 13y - - - - Pieter Klap 00065236
0000051344 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) - - Familial, autosomal recessive 05y - - - - Pieter Klap 00065237
0000051345 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) - - Familial, autosomal recessive 03y - - - - Pieter Klap 00065238
0000051346 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) - - Familial, autosomal recessive 10y - - - - Pieter Klap 00065240
0000051347 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) - - Familial, autosomal recessive 12y - - - - Pieter Klap 00065241
0000051349 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), - - Isolated (sporadic) 12y - - - - Pieter Klap 00065242
0000054282 Female patient with delayed speech and language development,moderate global developmental delay and minor dysmorphic features. - - Isolated (sporadic) - - - - - Bernt Popp 00074459
0000054283 Female patient with seizures moderate global developmental delay and macrocephaly - - Isolated (sporadic) - - - - - Bernt Popp 00074460
0000054286 Male patient wit autism spectrum disorder and developmental delay. - - Isolated (sporadic) - - - - - Bernt Popp 00074463
0000059380 - - - Unknown - - - - - Henk van Kranen 00079657
0000059382 - - - Unknown - - - - - Henk van Kranen 00079659
0000073818 Hypotonia, microcephaly, speech delay, renal disease (hypomagnesemia) - - Familial, autosomal recessive - - 00y00m03d - - Asaf Ta-Shma 00095419
0000124184 Hypotonia, early HP:0008947; spasticity (HP:0001257); Seizures (HP:0001250); Hearing impairment (HP:0000365); Blindness (HP:0000618) encephalopathy with undetermined etiology; progressive hypomyelinating leukodystrophy - Familial, autosomal recessive ? 05y - - - Rafał Płoski 00151815
0000130122 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 - - Familial, autosomal recessive - - - - - Anne Slavotinek 00164990
0000130123 see paper; ..., Failure to thrive with short stature; feeding difficulties and hypotonia in infancy; cataracts; frontal bossing; renal pelvicaliectasis; developmental delays - - Familial, autosomal recessive - - - - - Anne Slavotinek 00164991
0000130124 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 - - Familial, autosomal recessive - - - - - Anne Slavotinek 00164989
0000135692 facial dysmorphism autism - - Isolated (sporadic) 04y 04y - - - Yanjie Fan 00170832
0000135693 developmental delay facial dysmorphism - - Isolated (sporadic) - - - - - Yanjie Fan 00170833
0000135694 facial dysmorphism clinodyctyly - - Isolated (sporadic) - - - - - Yanjie Fan 00170835
0000135695 - - - Unknown - - - - - Yanjie Fan 00170834
0000135698 HP:0002033; HP:0002019; HP:0000682; HP:0001263; HP:0000750; HP:0002360; HP:0000733; HP:0003212 developmental delay, autistic features, hypotonia, increased IgE and dental problems developmental delay, autistic features, hypotonia, increased IgE and dental problems Isolated (sporadic) 03y 04y - childhood - Rafał Płoski 00170836
0000143161 - - - Familial, autosomal dominant - - - - - Anaïs Begemann 00180898
0000143163 HP:0001250 - - Familial, autosomal dominant - - 00y04m - - Anaïs Begemann 00180900
0000143333 HP:0000252 HP:0001263 - - Unknown - - - - - Anaïs Begemann 00181081
0000143711 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 developmental delay NEDHAHM Isolated (sporadic) 03y - - - - Stephanie Efthymiou 00181522
0000143712 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 developmental delay NEDHAHM Familial, autosomal dominant 10y - - - - Stephanie Efthymiou 00181523
0000143713 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 developmental delay NEDHAHM Familial, autosomal dominant 13y - - - - Stephanie Efthymiou 00181524
0000143714 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 NEDHAHM - Familial, autosomal dominant 14y - - - - Stephanie Efthymiou 00181525
0000143715 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 developmental delay NEDHAHM Familial, autosomal dominant 03y - - - - Stephanie Efthymiou 00181526
0000144409 see paper; ..., milder phenotype, achieving independent ambulation at 15–18 months, acquiring single words developmental delay - Unknown - - - - - Johan den Dunnen 00184078
0000144410 see paper; ..., milder phenotype, achieving independent ambulation at 15–18 months, acquiring single words developmental delay - Unknown - - - - - Johan den Dunnen 00184079
0000155113 Intractable seizure, developmental delay, and optic atrophy - - Familial, autosomal recessive - - - - - Philippe Campeau 00207331
0000166541 Profound global developmental delay (HP:0012736), Poor speech (HP:0002465), Abnormality of facial skeleton (HP:0011821), Growth abnormality (HP:0001507), biochemical Adenylosuccinase deficiency 9y 15y Familial, autosomal recessive - - - - - Andreas Laner 00218092
0000168018 see paper; ..., developmental delay, focal seizures - - Familial, autosomal recessive 07y06m - - - - Johan den Dunnen 00222898
0000168071 see paper; ..., global developmental delay, severe speech impairment, seizures, autism - - Familial, autosomal recessive 08y - - - - Johan den Dunnen 00222956
0000168072 see paper; ..., intellectual disability, seizures, difficulty in ambulation due to abnormal muscle tone lower extremities, uses wheelchair - - Familial, autosomal recessive 24y - - - - Johan den Dunnen 00222957
0000168073 see paper; ..., significant delay developmental milestones, intellectual disability, seizures - - Familial, autosomal recessive - - - - - Johan den Dunnen 00222958
0000171221 developmental delay, epilepsy, hypotonia developmental delay - Isolated (sporadic) - - - - - Joonhong Park 00147125
0000171222 developmental delay, intellectual disability, no epilepsy, overgrowth developmental delay - Isolated (sporadic) - - - - - Joonhong Park 00147126
0000171223 developmental delay, intellectual disability, no epilepsy, obesity, ADHD developmental delay AUTS-18 Isolated (sporadic) - - - - - Joonhong Park 00147124
0000171224 developmental delay, no epilepsy, hypotonia developmental delay CSS-3 Isolated (sporadic) - - - - - Joonhong Park 00147123
0000171225 developmental delay, intellectual disability, no epilepsy, aniridria, ASD developmental delay AN Isolated (sporadic) - - - - - Joonhong Park 00147127
0000171226 developmental delay, intellectual disability, epilepsy, ventricular septal defect. developmental delay ECA-6 Isolated (sporadic) - - - - - Joonhong Park 00147128
0000171227 developmental delay, intellectual disability, epilepsy, autism spectrum disorder developmental delay MRD-1 Familial, autosomal dominant - - - - - Joonhong Park 00147129
0000171228 developmental delay, intellectual disability, no epilepsy, autism spectrum disorder developmental delay - Isolated (sporadic) - - - - - Joonhong Park 00147130
0000173742 - - - Isolated (sporadic) - - - - - Christiane Zweier 00231309
0000173743 - - - Isolated (sporadic) - - - - - Christiane Zweier 00231310
0000173744 - - - Isolated (sporadic) - - - - - Christiane Zweier 00231311
0000173745 - - - Isolated (sporadic) - - - - - Christiane Zweier 00231312
0000173746 - - - Isolated (sporadic) - - - - - Christiane Zweier 00231313
0000173747 - - - Isolated (sporadic) - - - - - Christiane Zweier 00231314
0000173748 - - - Isolated (sporadic) - - - - - Christiane Zweier 00231315
0000173749 - - - Isolated (sporadic) - - - - - Christiane Zweier 00231316
0000173750 - - - Isolated (sporadic) - - - - - Christiane Zweier 00231317
0000173751 - - - Isolated (sporadic) - - - - - Christiane Zweier 00231318
0000173752 - - - Isolated (sporadic) - - - - - Christiane Zweier 00231319
0000173753 - - - Isolated (sporadic) - - - - - Christiane Zweier 00231320
0000173754 - - - Isolated (sporadic) - - - - - Christiane Zweier 00231321
0000173755 - - - Isolated (sporadic) - - - - - Christiane Zweier 00231322
0000173756 - - - Isolated (sporadic) - - - - - Christiane Zweier 00231323
0000173757 - - - Isolated (sporadic) - - - - - Christiane Zweier 00231324
0000173758 - - - Isolated (sporadic) - - - - - Christiane Zweier 00231325
0000173759 - - - Familial - - - - - Christiane Zweier 00231326
0000173761 - - - Isolated (sporadic) - - - - - Christiane Zweier 00231327
0000173762 - - - Isolated (sporadic) - - - - - Christiane Zweier 00231328
0000173763 - - - Isolated (sporadic) - - - - - Christiane Zweier 00231329
0000173764 - - - Isolated (sporadic) - - - - - Christiane Zweier 00231330
0000173765 - - - Isolated (sporadic) - - - - - Christiane Zweier 00231331
0000173766 - - - Isolated (sporadic) - - - - - Christiane Zweier 00231332
0000173767 - - - Isolated (sporadic) - - - - - Christiane Zweier 00231333
0000173768 - - - Isolated (sporadic) - - - - - Christiane Zweier 00231334
0000173769 - - - Isolated (sporadic) - - - - - Christiane Zweier 00231341
0000173770 - - - Isolated (sporadic) - - - - - Christiane Zweier 00231342
0000173771 - immune deficiency - Isolated (sporadic) - - - - - Christiane Zweier 00231342
0000173772 - - - Isolated (sporadic) - - - - - Christiane Zweier 00231343
0000173773 - - - Isolated (sporadic) - - - - - Christiane Zweier 00231344
0000180471 developmental regression after typical development until 18m, manifesting with loss of milestones including head control and speech; 21m-tremors; 22m-seizures; occasional myoclonus; brother 5y onset 13m ataxia, autism, developmental delay, recurrent febrile seizures, absent speech developmental delay - Familial, autosomal dominant - - - - - Johan den Dunnen 00240407
0000185033 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 developmental delay - Unknown 16y - - - - Elena Repnikova 00222801
0000185580 see paper; …; square face, flat face; no sparse hair (-HP:0008070); no prominent forehead (-HP:0011220); no thick eyebrows (-HP:0000574); telecanthi; downslanted palpebral fissures; short palpebral fissures; no ptosis, no blepharophimosis; long eyelashes; no squint; no depressed nasal bridge; no depressed nasal ridge; narrow nasal bridge; no short nose; no short columella; no alae lower inserted than columella; no anteverted nares; underdeveloped alae nasi; no full cheeks; short philtrum; no everted vermilion upper lip; thin vermilion upper lip; high palate; missing teeth; no micrognathia/retrognathia; no short-set/low-set ears; no protruding ears (upper part); no prominent inferior crus of antihelix; no overfolded helix ears; no absent earlobe; no clinodactyly fifth finger; no sandal gap; no cutaneous partial toe syndactyly; no overlapping toes; no fibular deviation distal halluces; no broad/narrow halluces developmental delay MKHK-1 Isolated (sporadic) 16y - - - - Johan den Dunnen 00245648
0000185581 see paper; …; square face; no sparse hair (-HP:0008070); prominent forehead (HP:0011220); no thick eyebrows (-HP:0000574); no telecanthi, no epicanthi; no up/downslanted palpebral fissures; short palpebral fissures; no ptosis, no blepharophimosis; no long eyelashes; no squint; no depressed nasal bridge; no depressed nasal ridge; narrow nasal bridge; no short nose; no short columella; no alae lower inserted than columella; no anteverted nares; underdeveloped alae nasi; no full cheeks; short philtrum; no everted vermilion upper lip; thin vermilion upper lip; no high palate; no missing teeth; no micrognathia/retrognathia; no short-set/low-set ears; no protruding ears (upper part); no prominent inferior crus of antihelix; no overfolded helix ears; no absent earlobe; no clinodactyly fifth finger; no sandal gap; no cutaneous partial toe syndactyly; no overlapping toes; no fibular deviation distal halluces; no broad/narrow halluces developmental delay MKHK-1 Isolated (sporadic) 18y - - - - Johan den Dunnen 00245649
0000185582 see paper; …; no square face, no flat face; no sparse hair (-HP:0008070); prominent forehead (HP:0011220); thick eyebrows (HP:0000574); no telecanthi, no epicanthi; upslanted palpebral fissures; no short palpebral fissures; no ptosis, no blepharophimosis; long eyelashes; squint; no depressed nasal bridge; no depressed nasal ridge; narrow nasal bridge; no short nose; no short columella; no alae lower inserted than columella; no anteverted nares; underdeveloped alae nasi; no full cheeks; short philtrum; no everted vermilion upper lip; no thin vermilion upper lip; no missing teeth; no micrognathia/retrognathia; no short-set/low-set ears; protruding ears (upper part); no prominent inferior crus of antihelix; no overfolded helix ears; no absent earlobe; no clinodactyly fifth finger; no sandal gap; no cutaneous partial toe syndactyly; no overlapping toes; no fibular deviation distal halluces; no broad/narrow halluces developmental delay MKHK-1 Isolated (sporadic) 18y - - - - Johan den Dunnen 00245650
0000185583 see paper; …; no square face, no flat face; sparse hair (HP:0008070); prominent forehead (HP:0011220); no thick eyebrows (-HP:0000574); telecanthi; upslanted palpebral fissures; short palpebral fissures; ptosis, blepharophimosis; no long eyelashes; squint; depressed nasal bridge; depressed nasal ridge; no narrow nasal bridge; short nose; short columella; alae lower inserted than columella; anteverted nares; no underdeveloped alae nasi; full cheeks; long philtrum; everted vermilion upper lip; no thin vermilion upper lip; no missing teeth; micrognathia/retrognathia; short-set ears, low-set ears; protruding ears (upper part); prominent inferior crus of antihelix; overfolded helix ears; absent earlobe; no clinodactyly fifth finger; no sandal gap; cutaneous partial toe syndactyly; overlapping toes; fibular deviation distal halluces; no broad/narrow halluces developmental delay MKHK-1 Isolated (sporadic) 4y - - - - Johan den Dunnen 00245651
0000185584 see paper; …; no square face, no flat face; no sparse hair (-HP:0008070); no prominent forehead (-HP:0011220); no thick eyebrows (-HP:0000574); no telecanthi, no epicanthi; upslanted palpebral fissures; no short palpebral fissures; no ptosis, no blepharophimosis; no long eyelashes; no squint; no depressed nasal bridge; no depressed nasal ridge; narrow nasal bridge; no short nose; no short columella; no alae lower inserted than columella; no anteverted nares; no underdeveloped alae nasi; no full cheeks; long philtrum; no everted vermilion upper lip; thin vermilion upper lip; no high palate; no missing teeth; no micrognathia/retrognathia; no short-set/low-set ears; no protruding ears (upper part); prominent inferior crus of antihelix; no overfolded helix ears; no absent earlobe; no clinodactyly fifth finger; sandal gap; no cutaneous partial toe syndactyly; no overlapping toes; fibular deviation distal halluces; no broad/narrow halluces developmental delay MKHK-1 Isolated (sporadic) 57y - - - - Johan den Dunnen 00245652
0000185585 see paper; …; square face, flat face; sparse hair (HP:0008070); prominent forehead (HP:0011220); no thick eyebrows (-HP:0000574); telecanthi; upslanted palpebral fissures; short palpebral fissures; ptosis, blepharophimosis; no long eyelashes; squint; depressed nasal bridge; depressed nasal ridge; no narrow nasal bridge; short nose; short columella; alae lower inserted than columella; anteverted nares; no underdeveloped alae nasi; full cheeks; long/deep philtrum; everted vermilion upper lip; no thin vermilion upper lip; high palate; micrognathia/retrognathia; low-set ears; protruding ears (upper part); prominent inferior crus of antihelix; overfolded helix ears; absent earlobe; clinodactyly fifth finger; no sandal gap; cutaneous partial toe syndactyly; no overlapping toes; fibular deviation distal halluces; broad halluces developmental delay MKHK-1 Isolated (sporadic) 2y - - - - Johan den Dunnen 00245653
0000185586 see paper; …; square face, flat face; no sparse hair (-HP:0008070); prominent forehead (HP:0011220); thick eyebrows (HP:0000574); telecanthi; no up/downslanted palpebral fissures; short palpebral fissures; blepharophimosis; long eyelashes; squint; no depressed nasal bridge; no depressed nasal ridge; no narrow nasal bridge; short nose; short columella; alae lower inserted than columella; no anteverted nares; no underdeveloped alae nasi; full cheeks; no philtrum short (s)/long (l)/deep (d); no everted vermilion upper lip; thin vermilion upper lip; high palate; no missing teeth; no micrognathia/retrognathia; short-set ears, low-set ears; no protruding ears (upper part); prominent inferior crus of antihelix; overfolded helix ears; absent earlobe; clinodactyly fifth finger; no sandal gap; no cutaneous partial toe syndactyly; no overlapping toes; no fibular deviation distal halluces; no broad/narrow halluces developmental delay MKHK-1 Isolated (sporadic) 4y - - - - Johan den Dunnen 00245654
0000185587 see paper; …; square face; sparse hair (HP:0008070); prominent forehead (HP:0011220); no thick eyebrows (-HP:0000574); telecanthi; upslanted palpebral fissures; short palpebral fissures; ptosis, blepharophimosis; no long eyelashes; squint; depressed nasal bridge; depressed nasal ridge; no narrow nasal bridge; short nose; short columella; alae lower inserted than columella; anteverted nares; no underdeveloped alae nasi; full cheeks; long philtrum; no everted vermilion upper lip; thin vermilion upper lip; high palate; no missing teeth; micrognathia/retrognathia; low-set ears; protruding ears (upper part); prominent inferior crus of antihelix; overfolded helix ears; absent earlobe; no clinodactyly fifth finger; sandal gap; no cutaneous partial toe syndactyly; overlapping toes; fibular deviation distal halluces; broad halluces developmental delay MKHK-1 Isolated (sporadic) 1y - - - - Johan den Dunnen 00245655
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