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Phenotypes for disease #05162 (DD (developmental delay (DD)))
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Phenotype details
: additional information on the phenotype of the individual, preferably use HPO terms only (http://www.human-phenotype-ontology.org/)
Diagnosis/Initial
: initial diagnosis, before molecular testing
Diagnosis/Definite
: phenotype individual after molecular testing (OMIM abbreviation)
Inheritance
: Indicates the inheritance of the phenotype in the family; unknown, familial (autosomal/X-linked, dominant/ recessive), paternal (Y-linked), maternal (mitochondrial), isolated (sporadic) or complex
All options:
Unknown
Familial
Familial, autosomal dominant
Familial, autosomal recessive
Familial, X-linked
Familial, X-linked dominant
Familial, X-linked dominant, male sparing
Familial, X-linked recessive
Paternal, Y-linked
Maternal, mitochondrial
Isolated (sporadic)
Di-genic
Complex
- = Not applicable
Age/Examination
: age at which the individual was examined.
35y = 35 years
04y08m = 4 years and 8 months
00y00m01d12h = 1 day and 12 hours
18y? = around 18 years
30y-40y = between 30 and 40 years
>54y = older than 54
? = unknown
Age/Diagnosis
: age diagnosis was confirmed
35y = 35 years
04y08m = 4 years and 8 months
00y00m01d12h = 1 day and 12 hours
18y? = around 18 years
30y-40y = between 30 and 40 years
>54y = older than 54
? = unknown
Age/Onset
: Age first symptoms disease appeared in individual:
35y = 35 years
04y08m = 4 years and 8 months
00y00m01d12h = 1 day and 12 hours
18y? = around 18 years
30y-40y = between 30 and 40 years
>54y = older than 54
? = unknown
Phenotype/Onset
: individual's phenotype at Age/Onset described using HPO
Protein
: result from protein staining
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232 entries on 3 pages. Showing entries 1 - 100.
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Phenotype ID
Phenotype details
Diagnosis/Initial
Diagnosis/Definite
Inheritance
Age/Examination
Age/Diagnosis
Age/Onset
Phenotype/Onset
Protein
Owner
Individual ID
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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