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Gene: Whrn MGI:2682003

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Gene Summary

Name:
whirlin
Synonyms:
wi,  Ush2d,  1110035G07Rik,  C430046P22Rik,  Dfnb31

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype System Allele Zyg Sex Life Stage P Value
increased thermal nociceptive threshold Whrntm1a(EUCOMM)Wtsi HOM Early adult 2.30×10-06

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
Viewing: all phenotypes

lacZ Expression

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Adrenal gland N/A heterozygote 50% (1 of 2)
Aorta N/A heterozygote Not available
Blood vessel N/A heterozygote 0.0% (0 of 2)
Bone N/A heterozygote 100% (2 of 2)
Brain N/A heterozygote 100% (2 of 2)
Brainstem N/A heterozygote Not available
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote 0.0% (0 of 2)
Cerebellum N/A heterozygote Not available
Cerebral cortex N/A heterozygote Not available
Eye N/A heterozygote 0.0% (0 of 2)
Gall bladder N/A heterozygote 0.0% (0 of 2)
Heart N/A heterozygote 100% (2 of 2)
Hippocampus N/A heterozygote Not available
Hypothalamus N/A heterozygote Not available
Kidney N/A heterozygote 100% (2 of 2)
Large intestine N/A heterozygote 100% (2 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote 0.0% (0 of 2)
Lung N/A heterozygote 0.0% (0 of 2)
Lymph node N/A heterozygote 0.0% (0 of 2)
Mammary gland N/A heterozygote 0.0% (0 of 2)
Esophagus N/A heterozygote 0.0% (0 of 2)
Olfactory lobe N/A heterozygote Not available
Ovary N/A heterozygote 50% (1 of 2)
Oviduct N/A heterozygote 50% (1 of 2)
Pancreas N/A heterozygote 100% (2 of 2)
Parathyroid gland N/A heterozygote 100% (2 of 2)
Peripheral nervous system N/A heterozygote 0.0% (0 of 2)
Peyer's patch N/A heterozygote 100% (2 of 2)
Pituitary gland N/A heterozygote 100% (2 of 2)
Prostate gland N/A heterozygote 0.0% (0 of 2)
Skeletal muscle tissue N/A heterozygote 0.0% (0 of 2)
Skin N/A heterozygote 0.0% (0 of 2)
Small intestine N/A heterozygote 100% (2 of 2)
Spinal cord N/A heterozygote 100% (2 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Stomach N/A heterozygote 100% (2 of 2)
Striatum N/A heterozygote Not available
Testis N/A heterozygote 50% (1 of 2)
Thymus N/A heterozygote 0.0% (0 of 2)
Thyroid gland N/A heterozygote 0.0% (0 of 2)
Trachea N/A heterozygote 0.0% (0 of 2)
Uterus N/A heterozygote Not available
White adipose tissue N/A heterozygote 0.0% (0 of 2)
No Embryo expression data was found for this gene.

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy Background staining in controls (WT)
adrenal gland 0.0%
aorta 0.0%
blood vessel
bone 0.0%
brain 0.0%
brainstem 0.0%
brown adipose tissue 0.0%
cartilage tissue 0.0%
cerebellum 0.0%
cerebral cortex 0.0%
eye 0.0%
gall bladder 0.0%
heart 0.0%
hippocampus 0.0%
hypothalamus 0.0%
kidney 0.0%
large intestine 0.0%
liver 0.0%
lower urinary tract 0.0%
lung 0.0%
lymph node 0.0%
mammary gland 0.0%
oesophagus
olfactory lobe 0.0%
ovary 0.0%
oviduct 0.0%
pancreas 0.0%
parathyroid gland 0.0%
peripheral nervous system 0.0%
peyer's patch
pituitary gland 0.0%
prostate gland 0.0%
skeletal muscle tissue
skin 0.0%
small intestine 0.0%
spinal cord 0.0%
spleen 0.0%
stomach 0.0%
striatum 0.0%
testis 0.0%
thymus 0.0%
thyroid gland 0.0%
trachea 0.0%
uterus 0.0%
white adipose tissue 0.0%
No Embryo expression data was found for this gene.

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Legacy Phenotype Associated Images
Whrntm1a(EUCOMM)Wtsi
forearm, HOM, Female, WTSI
Whrntm1a(EUCOMM)Wtsi
head, HOM, Male, WTSI
Whrntm1a(EUCOMM)Wtsi
head, HOM, Male, WTSI
Whrntm1a(EUCOMM)Wtsi
body, HOM, Female, WTSI
Whrntm1a(EUCOMM)Wtsi
head, HOM, Female, WTSI

View all 186 images

Whrnwi
abnormal retina morphology, abnormal retinal pigmentation, eye, HET, Female, WTSI
Whrnwi
eye, abnormal retina morphology, abnormal retinal pigmentation, HET, Male, WTSI
Whrnwi
abnormal retinal pigmentation, abnormal retina morphology, eye, HET, Female, WTSI
Whrnwi
eye, abnormal retinal pigmentation, abnormal retina morphology, HET, Male, WTSI
Whrnwi
eye, HOM, Female, WTSI

View all 10 images

Whrnwi
back skin, HET, Female, WTSI
Whrnwi
back skin, HET, Female, WTSI
Whrnwi
back skin, HOM, Female, WTSI
Whrnwi
back skin, HET, Female, WTSI
Whrnwi
back skin, HOM, Female, WTSI

View all 7 images

Human diseases caused by Whrn mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

The table below shows human diseases associated to Whrn by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Deafness, Autosomal Recessive 31
Sensorineural hearing impairment, Absent vestibular function OMIM:607084
Usher Syndrome, Type Iid
Hearing impairment, Abnormal vestibular function, Rod-cone dystrophy OMIM:611383
Usher Syndrome Type 2
Sensorineural hearing impairment, Abnormality of the inner ear ORPHA:231178

The table below shows human diseases predicted to be associated to Whrn by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Auditory Neuropathy, Autosomal Dominant 3
Hearing impairment, Abnormal speech discrimination OMIM:619832
Deafness, Autosomal Recessive 1B
Hearing impairment, Abnormal vestibular function OMIM:612645
Deafness, Autosomal Recessive 84A
Hearing impairment, Abnormal vestibular function OMIM:613391
Deafness, Autosomal Recessive 9
Sensorineural hearing impairment, Absent brainstem auditory responses OMIM:601071
Deafness, Autosomal Recessive 25
Hearing impairment, Abnormal vestibular function, Progressive sensorineural hearing impairment OMIM:613285
Tune Deafness
Hearing impairment OMIM:191200
Schizophrenia 15
Hyperactivity OMIM:613950
Deafness, Autosomal Recessive 33
Hearing impairment OMIM:607239
Deafness, Autosomal Dominant 54
Hearing impairment OMIM:615649
Deafness, Autosomal Dominant 52
Hearing impairment OMIM:607683
Deafness, Autosomal Recessive 106
Hearing impairment OMIM:617637
Deafness, Autosomal Recessive 107
Hearing impairment OMIM:617639
Deafness, Autosomal Dominant 15
Hearing impairment OMIM:602459
Deafness, Autosomal Recessive 65
Hearing impairment OMIM:610248
Deafness, Autosomal Dominant 89
Hearing impairment OMIM:620284
Deafness, Autosomal Dominant 88
Hearing impairment OMIM:620283
Deafness, Autosomal Recessive 86
Hearing impairment OMIM:614617
Deafness, Autosomal Dominant 24
Hearing impairment OMIM:606282
Deafness, Autosomal Recessive 6
Hearing impairment OMIM:600971
Deafness, Autosomal Dominant 51
Hearing impairment OMIM:613558
Deafness, Autosomal Recessive 96
Hearing impairment OMIM:614414
Deafness, Autosomal Recessive 93
Hearing impairment OMIM:614899
Attention Deficit-Hyperactivity Disorder 8
Attention deficit hyperactivity disorder OMIM:619957
Auditory Neuropathy, Autosomal Dominant 1
Sensorineural hearing impairment, Absence of acoustic reflex, Abnormal auditory evoked potentials... OMIM:609129
Neurodevelopmental Disorder With Microcephaly, Hypotonia, And Absent Language
Hearing impairment, Attention deficit hyperactivity disorder, Aggressive behavior OMIM:620038
Deafness, Autosomal Recessive 104
Positive Romberg sign, Prelingual sensorineural hearing impairment, Abnormal vestibular function,... OMIM:616515
Deafness, Autosomal Recessive 13
Hearing impairment, Sensorineural hearing impairment OMIM:603098
Deafness, Autosomal Recessive 29
Hearing impairment, Sensorineural hearing impairment OMIM:614035
Deafness, Autosomal Recessive 20
Hearing impairment, Sensorineural hearing impairment OMIM:604060
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Hyperleucine-Isoleucinemia
Sensorineural hearing impairment, Retinal degeneration OMIM:238340
Deafness, Autosomal Dominant 49
Sensorineural hearing impairment, Progressive hearing impairment OMIM:608372
Deafness, Mid-Tone Neural
Sensorineural hearing impairment, Progressive hearing impairment OMIM:124700
Deafness, X-Linked 4
Sensorineural hearing impairment, High-frequency hearing impairment OMIM:300066
Liberfarb Syndrome
Bone spicule pigmentation of the retina, Sensorineural hearing impairment, Retinal degeneration, ... OMIM:618889
Retinitis Pigmentosa 36
Bone spicule pigmentation of the retina, Macular degeneration, Attenuation of retinal blood vesse... OMIM:610599
Gilles De La Tourette Syndrome
Compulsive behaviors, Phonic tics, Motor tics, Attention deficit hyperactivity disorder, Self-mut... OMIM:137580
Usher Syndrome, Type Iv
Bone spicule pigmentation of the retina, Hyperautofluorescent macular lesion, Sensorineural heari... OMIM:618144
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Leber Congenital Amaurosis 19
Retinal degeneration, Attenuation of retinal blood vessels, Optic disc pallor OMIM:618513
Stargardt Disease 1
Macular degeneration, Retinitis pigmentosa inversa, Bull's eye maculopathy OMIM:248200
Macular Degeneration, Age-Related, 13
Macular degeneration, Macular scar, Drusen, Choroidal neovascularization OMIM:615439
Deafness, Autosomal Recessive 31
Sensorineural hearing impairment, Absent vestibular function OMIM:607084
Leber Congenital Amaurosis With Early-Onset Deafness
Sensorineural hearing impairment, Retinal degeneration, Retinal pigment epithelial mottling, Peri... OMIM:617879
Retinal Dystrophy, Reticular Pigmentary, Of Posterior Pole
Retinal dystrophy, Drusen, Reticular pigmentary degeneration OMIM:267800
Cone-Rod Dystrophy 7
Cone/cone-rod dystrophy, Retinal flecks, Macular atrophy, Bull's eye maculopathy OMIM:603649
Retinoschisis 1, X-Linked, Juvenile
Retinal detachment, Retinal atrophy, Retinoschisis, Peripheral cystoid retinal degeneration, Reti... OMIM:312700
Intellectual Developmental Disorder, Autosomal Recessive 3
Hyperactivity OMIM:608443
Macular Dystrophy, Patterned, 3
Macular atrophy, Rod-cone dystrophy, Choroidal neovascularization OMIM:617111
Deafness, Autosomal Dominant 87
Hearing impairment, Enlarged vestibular aqueduct, Incomplete partition of the cochlea type II OMIM:620281
Retinitis Pigmentosa 48
Macular degeneration, Rod-cone dystrophy OMIM:613827
Sorsby Pseudoinflammatory Fundus Dystrophy
Macular dystrophy, Abnormal fundus autofluorescence imaging, Choroidal neovascularization, Chorio... ORPHA:59181
Doyne Honeycomb Retinal Dystrophy
Retinal dystrophy, Reticular pigmentary degeneration OMIM:126600
Late-Onset Retinal Degeneration
Sub-RPE deposits, Choroidal neovascularization, Chorioretinal degeneration, Retinopathy, Retinal ... OMIM:605670
Macular Dystrophy, Retinal, 1, North Carolina Type
Peripheral retinal atrophy, Abnormality of macular pigmentation, Macular dystrophy, Drusen OMIM:136550
Macular Dystrophy, Retinal, 2
Granular macular appearance, Macular dystrophy, Perifoveal ring of hyperautofluorescence, Retinal... OMIM:608051
Autism, Susceptibility To, X-Linked 3
Inflexible adherence to routines, EEG abnormality, Restrictive behavior, Motor stereotypy OMIM:300496
Autism, Susceptibility To, X-Linked 1
Inflexible adherence to routines, EEG abnormality, Restrictive behavior, Motor stereotypy OMIM:300425
Retinitis Pigmentosa 32
Bone spicule pigmentation of the retina, Photoreceptor layer loss on macular OCT, Pigmentary reti... OMIM:609913
Stargardt Disease 3
Macular dystrophy, Macular atrophy, Macular flecks OMIM:600110
Macular Dystrophy, Vitelliform, 2
Cystoid macular degeneration, Macular dystrophy, Subretinal fluid OMIM:153700
Charcot-Marie-Tooth Disease, Type 4B1
Facial palsy, Decreased motor nerve conduction velocity, Distal sensory impairment, Abnormal audi... OMIM:601382
Exudative Vitreoretinopathy 7
Retinal detachment, Exudative vitreoretinopathy, Retinal degeneration, Retinal hole, Retinal fold OMIM:617572
Retinitis Pigmentosa 70
Macular degeneration, Attenuation of retinal blood vessels, Retinal degeneration, Rod-cone dystro... OMIM:615922
Optic Atrophy 6
Optic atrophy, Retinal degeneration OMIM:258500
Retinitis Pigmentosa 31
Attenuation of retinal blood vessels, Rod-cone dystrophy, Retinal pigment epithelial atrophy OMIM:609923
Macular Degeneration, Early-Onset
Macular degeneration, Choroidal neovascularization OMIM:616118
Peripheral Cone Dystrophy
Optic atrophy, Cone/cone-rod dystrophy, Peripheral retinal degeneration, Optic disc pallor OMIM:609021
Retinal Degeneration And Epilepsy
Retinal degeneration OMIM:267740
Autism
Inflexible adherence to routines, EEG abnormality, Restrictive behavior, Motor stereotypy OMIM:209850
Autism, Susceptibility To, 8
Inflexible adherence to routines, EEG abnormality, Restrictive behavior, Motor stereotypy OMIM:607373
Stargardt Disease 4
Macular degeneration, Retinal flecks OMIM:603786
Cone-Rod Dystrophy 22
Hyperautofluorescent macular lesion, Bull's eye maculopathy, Attenuation of retinal blood vessels... OMIM:619531
Retinitis Pigmentosa 33
Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Retinal pigment ep... OMIM:610359
Intellectual Developmental Disorder, Autosomal Recessive 37
Hyperactivity, Bruxism, Aggressive behavior OMIM:615493
Wagner Vitreoretinopathy
Optic atrophy, Peripheral tractional retinal detachment, Chorioretinal atrophy, Vitreoretinopathy... OMIM:143200
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity, Bruxism, Aggressive behavior ORPHA:356996
Deafness, Autosomal Recessive 109
Absent vestibular function, Abnormal semicircular canal morphology, Congenital sensorineural hear... OMIM:618013
Retinal Cone Dystrophy 1
Cone/cone-rod dystrophy, Retinal degeneration, Bull's eye maculopathy OMIM:180020
Atrophia Maculosa Varioliformis Cutis, Familial
Macular atrophy OMIM:601341
Retinopathy, Pericentral Pigmentary, Dominant
Bone spicule pigmentation of the retina, Retinal dystrophy, Retinal atrophy, Retinopathy, Attenua... OMIM:180210
Macular Degeneration, Age-Related, 11
Macular degeneration OMIM:611953
Macular Degeneration, Age-Related, 4
Macular degeneration OMIM:610698
Macular Degeneration, Age-Related, 7
Macular degeneration OMIM:610149
Macular Degeneration, Age-Related, 2
Macular degeneration OMIM:153800
Macular Degeneration, Age-Related, 6
Macular degeneration OMIM:613757
Macular Degeneration, Age-Related, 15
Macular degeneration OMIM:615591
Autosomal Recessive Spastic Paraplegia Type 44
Sensorineural hearing impairment, Abnormal auditory evoked potentials, Abnormality of visual evok... ORPHA:320401
Ravine Syndrome
Anorexia, Abnormal auditory evoked potentials, Ataxia ORPHA:99852
Optic Atrophy 8
Optic atrophy, Abnormality of pattern visual evoked potentials, Sensorineural hearing impairment,... OMIM:616648
Bothnia Retinal Dystrophy
Increased OCT-measured foveal thickness, Macular degeneration, Pigmentary retinopathy, Abnormal f... ORPHA:85128
Night Blindness, Congenital Stationary, Type 1D
Congenital stationary night blindness, Attenuation of retinal blood vessels, Macular atrophy, Pig... OMIM:613830
Diabetes And Deafness, Maternally Inherited
Sensorineural hearing impairment, Vertigo, Abnormal vestibular function, Retinal degeneration, Pi... OMIM:520000
Retinitis Pigmentosa 11
Bone spicule pigmentation of the retina, Macular degeneration, Perifoveal ring of hyperautofluore... OMIM:600138
Macular Degeneration, Atrophic, X-Linked
Macular degeneration OMIM:300834
Bardet-Biedl Syndrome 16
Hearing impairment, Retinal degeneration, Recurrent otitis media, Rod-cone dystrophy OMIM:615993
Retinitis Pigmentosa 81
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Optic disc pallor,... OMIM:617871
Smith-Magenis syndrome
Hyperactivity, Self-mutilation, Motor stereotypy DECIPHER:8
Chromosome 15Q11-Q13 Duplication Syndrome
Restrictive behavior, Truncal ataxia, Inflexible adherence to routines, Unsteady gait, Reduced so... OMIM:608636
Ceroid Lipofuscinosis, Neuronal, 6A
Retinal degeneration OMIM:601780
Retinitis Pigmentosa 13
Bone spicule pigmentation of the retina, Asteroid hyalosis, Cystoid macular edema, Optic disc dru... OMIM:600059
Fraxe Intellectual Disability
Agitation, Hyperactivity, Prominent ear helix, Recurrent hand flapping, Compulsive behaviors, Imp... ORPHA:100973
Stargardt Disease
Retinal thinning, Abnormality of macular pigmentation, Macular degeneration, Yellow/white lesions... ORPHA:827
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Polydipsia, Athetosis, Abnormal circulating renin, Ventricular hypertrophy, Nephrolithiasis, Adre... ORPHA:369929
Cone-Rod Dystrophy 11
Cone/cone-rod dystrophy, Macular degeneration, Macular atrophy, Bull's eye maculopathy OMIM:610381
Primary Dystonia, Dyt13 Type
Jerky head movements, Torticollis, Torsion dystonia, Craniofacial dystonia, Limb dystonia, Action... ORPHA:98807
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Retinal degeneration OMIM:251700
Central Areolar Choroidal Dystrophy
Full-thickness macular hole, Drusen, Foveal photoreceptor outer segment loss on macular OCT, Abse... ORPHA:75377
Retinitis Pigmentosa 38
Rod-cone dystrophy, Peripheral retinal atrophy, Macular atrophy, Optic disc pallor OMIM:613862
Retinitis Pigmentosa 73
Bone spicule pigmentation of the retina, Geographic atrophy, Retinal atrophy, Macular crystals, E... OMIM:616544
Non-Syndromic Genetic Deafness
Abnormal vestibulo-ocular reflex, Postlingual sensorineural hearing impairment, Prelingual sensor... ORPHA:87884
Charcot-Marie-Tooth Disease, Demyelinating, Type 1H
Macular degeneration OMIM:619764
Meniere Disease
Hearing impairment, Vertigo, Tinnitus OMIM:156000
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity, Motor stereotypy OMIM:300271
Mohr-Tranebjaerg Syndrome
Optic atrophy, Postlingual sensorineural hearing impairment, Prelingual sensorineural hearing imp... ORPHA:52368
Best Vitelliform Macular Dystrophy
Cystoid macular degeneration, Choroideremia ORPHA:1243
Spinocerebellar Ataxia, Autosomal Recessive 12
Optic atrophy, Retinal degeneration OMIM:614322
Developmental And Epileptic Encephalopathy 58
Optic atrophy, Hypsarrhythmia, Motor stereotypy OMIM:617830
Neurodevelopmental Disorder With Hypotonia And Impaired Expressive Language And With Or Without Seizures
Agitation, EEG abnormality, Motor stereotypy, Aggressive behavior OMIM:617171
Asperger Syndrome, Susceptibility To, 1
Inflexible adherence to routines, Restrictive behavior, Motor stereotypy OMIM:608638
Asperger Syndrome, Susceptibility To, 2
Inflexible adherence to routines, Restrictive behavior, Motor stereotypy OMIM:608631
Familial Hyperaldosteronism Type I
Polydipsia, Dexamethasone-suppressible primary hyperaldosteronism, Abnormal circulating renin, Se... ORPHA:403
Familial Hyperaldosteronism Type Iii
Polydipsia, Hypercalciuria, Abnormal circulating renin, Glucocortocoid-insensitive primary hypera... ORPHA:251274
Retinal Dystrophy And Obesity
Retinal dystrophy, Retinal detachment, Retinal dots, Attenuation of retinal blood vessels, Peripa... OMIM:616188
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome
Bone spicule pigmentation of the retina, Retinal dystrophy, Attached earlobe, Attenuation of reti... OMIM:616108
Retinitis Pigmentosa 19
Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Retinal pigment ep... OMIM:601718
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities
Hyperactivity, Tremor, Limb dystonia, Hypertrophic cardiomyopathy, Hearing impairment, Obesity, A... OMIM:620270
Deafness, Autosomal Dominant 50
Sensorineural hearing impairment, Progressive hearing impairment, Tinnitus, Progressive sensorine... OMIM:613074
Familial Drusen
Granular macular appearance, Macular dystrophy, Peripapillary chorioretinal atrophy, Choroidal ne... ORPHA:75376
Intellectual Developmental Disorder, X-Linked 109
Agitation, Hyperactivity, Recurrent hand flapping, Compulsive behaviors, Impulsivity, Stereotypic... OMIM:309548
Ceroid Lipofuscinosis, Neuronal, 3
Optic atrophy, Macular degeneration, Retinal degeneration, Rod-cone dystrophy OMIM:204200
Retinitis Pigmentosa 88
Bone spicule pigmentation of the retina, Macular degeneration, Cystoid macular edema, Attenuation... OMIM:618826
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures
Chorea, Inappropriate laughter, Ataxia, Dystonia, Motor stereotypy, EEG abnormality, Bruxism, Agg... OMIM:619150
Chromosome 3Q29 Deletion Syndrome
Hyperactivity, Low-set ears, Gait ataxia, Macrotia, Failure to thrive, Posteriorly rotated ears, ... OMIM:609425
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Hyperactivity, Low-set ears ORPHA:436151
Hypotrichosis, Congenital, With Juvenile Macular Dystrophy
Macular degeneration, Subretinal deposits, Choriocapillaris atrophy OMIM:601553
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Optic atrophy, Hyperactivity, Tremor, Simplified gyral pattern, Motor stereotypy, Aggressive beha... OMIM:619470
Macular Degeneration, Age-Related, 1
Geographic atrophy, Choroidal neovascularization, Macular degeneration, Foveal hypopigmentation, ... OMIM:603075
Retinitis Pigmentosa 68
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Retinal atrophy OMIM:615725
Retinitis Pigmentosa 4
Bone spicule pigmentation of the retina, Retinal atrophy, Attenuation of retinal blood vessels, R... OMIM:613731
Microphthalmia, Isolated 5
Bone spicule pigmentation of the retina, Foveoschisis, Cystoid macular edema, Optic disc drusen, ... OMIM:611040
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type
Hyperactivity, Inflexible adherence to routines, Recurrent otitis media OMIM:301076
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Ambiguous genitalia, male, Clitoral hypertrophy, Increased circulating androstenedione concentrat... ORPHA:90791
Cone-Rod Dystrophy 5
Cone/cone-rod dystrophy, Macular degeneration, Retinal pigment epithelial mottling OMIM:600977
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities
Attention deficit hyperactivity disorder, Motor stereotypy OMIM:617787
Macular Degeneration, Age-Related, 3
Macular degeneration, Decreased nerve conduction velocity, Drusen, Choroidal neovascularization OMIM:608895
Cone-Rod Dystrophy 16
Bone spicule pigmentation of the retina, Cone/cone-rod dystrophy, Attenuation of retinal blood ve... OMIM:614500
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Optic atrophy, Abnormal auditory evoked potentials, Abnormal amplitude of pattern reversal visual... OMIM:125250
Intellectual Developmental Disorder, X-Linked 77
Hyperactivity OMIM:300454
Usher Syndrome, Type Iid
Hearing impairment, Abnormal vestibular function, Rod-cone dystrophy OMIM:611383
Ceroid Lipofuscinosis, Neuronal, 1
Optic atrophy, Macular degeneration, Retinal degeneration OMIM:256730
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Delayed puberty, Abnormal female external genitalia morphology, Abnormal earlobe morphology, Abno... ORPHA:95699
Spondylometaphyseal Dysplasia, Axial
Optic atrophy, Retinal degeneration, Rod-cone dystrophy, Cone/cone-rod dystrophy OMIM:602271
Ceroid Lipofuscinosis, Neuronal, 2
Retinal degeneration OMIM:204500
Hyperprolinemia, Type I
Hyperactivity, Ataxia, Motor stereotypy, EEG abnormality, Aggressive behavior OMIM:239500
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Renal salt wasting, Hypospadias, Adrenal hyperplasia, Adrenogenital syndrome, Hypoglycemia, Eleva... OMIM:201910
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Delayed puberty, Ambiguous genitalia, male, Absence of secondary sex characteristics, Precocious ... ORPHA:90793
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Cystoid macular degeneration, Retinal degeneration, Macular atrophy OMIM:267760
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Hyperactivity, Tremor, Low-set ears, Motor stereotypy, Self-injurious behavior, EEG abnormality, ... OMIM:618718
Central Retinal Vein Occlusion
Retinal neovascularization, Macular degeneration, Cystoid macular edema, Intraretinal hemorrhage,... ORPHA:411527
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Broad-based gait, Atrophy/Degeneration affecting the brainstem, Cerebellar atrophy, Recurrent han... OMIM:617862
Intellectual Developmental Disorder And Retinitis Pigmentosa
Bone spicule pigmentation of the retina, Abnormal flash visual evoked potentials, Macular degener... OMIM:618195
Bothnia Retinal Dystrophy
Macular degeneration, Retinal dystrophy OMIM:607475
Cone-Rod Dystrophy 24
Macular degeneration, Macular drusen, Cone/cone-rod dystrophy, Attenuation of retinal blood vesse... OMIM:620342
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Hyperactivity, Self-injurious behavior, Aggressive behavior OMIM:619031
Senior-Loken Syndrome 7
Retinal degeneration OMIM:613615
N-Acetylaspartate Deficiency
Inguinal hernia, Broad-based gait, Truncal ataxia, Decreased body weight, Unsteady gait, Motor st... OMIM:614063
Bestrophinopathy, Autosomal Recessive
Retinal flecks, Retinal pigment epithelial atrophy OMIM:611809
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Attention deficit hyperactivity disorder, Abnormality of neuronal migration, Ataxia, Motor stereo... OMIM:618709
Intellectual Developmental Disorder With Autism And Speech Delay
Reduced social reciprocity, Inability to walk, Motor stereotypy OMIM:606053
Charcot-Marie-Tooth Disease, Type 4D
Decreased nerve conduction velocity, Distal sensory impairment, Impaired distal proprioception, S... OMIM:601455
Deafness, Autosomal Dominant 44
Abnormal inner ear morphology, Sensorineural hearing impairment, Tinnitus, Abnormal vestibular fu... OMIM:607453
Deafness, Autosomal Dominant 86
Abnormal inner ear morphology, Sensorineural hearing impairment, Tinnitus, Abnormal vestibular fu... OMIM:620280
Acth-Independent Macronodular Adrenal Hyperplasia
Agitation, Decreased circulating ACTH concentration, Macronodular adrenal hyperplasia, Adrenal hy... OMIM:219080
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive
Inability to walk, Cerebral cortical atrophy, Dystonia, Reduced social reciprocity, Motor stereot... OMIM:617820
Retinitis Pigmentosa 90
Bone spicule pigmentation of the retina, Cystoid macular edema, Attenuation of retinal blood vess... OMIM:619007
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Hyperactivity, Attention deficit hyperactivity disorder, Impulsivity OMIM:301008
Hsd10 Mitochondrial Disease
Optic atrophy, Sensorineural hearing impairment, Retinal degeneration OMIM:300438
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Sensorineural hearing impairment, Facial palsy, Absent brainstem auditory responses, Dysphagia, E... OMIM:617519
Ophthalmoplegia, External, And Myopia
Retinal degeneration, Chorioretinal degeneration OMIM:311000
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct
Sensorineural hearing impairment, Enlarged vestibular aqueduct, Incomplete partition of the cochl... OMIM:600791
Mehmo Syndrome
Delayed puberty, Decreased response to growth hormone stimulation test, Difficulty walking, Inabi... OMIM:300148
Megalencephalic Leukoencephalopathy With Subcortical Cysts 4, Remitting
Hyperactivity, Dysphagia, Impulsivity OMIM:620448
Deafness, Autosomal Dominant 2A
Hearing impairment, Tinnitus OMIM:600101
Morm Syndrome
Retinal atrophy, Retinal dystrophy ORPHA:75858
Autism, Susceptibility To, X-Linked 2
Inflexible adherence to routines, EEG abnormality, Restrictive behavior, Motor stereotypy OMIM:300495
Macular Dystrophy, Vitelliform, 3
Macular dystrophy, Drusen, Choroidal neovascularization, Vitelliform-like macular lesions, Macula... OMIM:608161
Cone-Rod Dystrophy 13
Cone/cone-rod dystrophy, Macular degeneration OMIM:608194
Intellectual Developmental Disorder, Autosomal Recessive 58
Pica, Motor stereotypy, Self-injurious behavior, Choreoathetosis, Aggressive behavior OMIM:617270
Familial Hyperaldosteronism Type Ii
Abnormal circulating renin, Secretory adrenocortical adenoma, Adrenal hyperplasia, Glucocortocoid... ORPHA:404
X-Linked Neurodegenerative Syndrome, Bertini Type
Macular degeneration ORPHA:85334
Pigmented Nodular Adrenocortical Disease, Primary, 4
Increased body weight, Adrenal hyperplasia, Dorsocervical fat pad, Diabetes mellitus, Primary hyp... OMIM:615830
Achromatopsia
Inner retinal layer loss on macular OCT, Attenuation of retinal blood vessels, Hypoplasia of the ... ORPHA:49382
Primary Unilateral Adrenal Hyperplasia
Polydipsia, Decreased circulating renin level, Glucocortocoid-insensitive primary hyperaldosteron... ORPHA:231580
Bietti Crystalline Dystrophy
Retinal thinning, Chorioretinal degeneration, Cystoid macular edema, Subretinal deposits, Chorioc... ORPHA:41751
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Decreased circulating ACTH concentration, Macronodular adrenal hyperplasia, Increased body weight... ORPHA:189427
Oliver-Mcfarlane Syndrome
Retinal degeneration, Pigmentary retinopathy OMIM:275400
Autism Spectrum Disorder Due To Auts2 Deficiency
Inguinal hernia, Joint contracture of the 5th finger, Hyperactivity, Low-set ears, Compulsive beh... ORPHA:352490
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Female external genitalia in individual with 46,XY karyotype, Abnormal female external genitalia ... ORPHA:90790
Lodder-Merla Syndrome, Type 1, With Impaired Intellectual Development And Cardiac Arrhythmia
Retinal degeneration OMIM:617173
Retinitis Pigmentosa 27
Bone spicule pigmentation of the retina, Peripapillary chorioretinal atrophy, Chorioretinal atrop... OMIM:613750
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Enlarged kidney, Hepatomegaly, Anemia, Failure to thrive, Thrombocytopenia, Splenomegaly, Leukope... OMIM:615285
Leber Congenital Amaurosis 4
Cone/cone-rod dystrophy, Attenuation of retinal blood vessels, Macular atrophy, Optic disc pallor OMIM:604393
Abcd Syndrome
Hearing impairment, Aganglionic megacolon, Abnormal auditory evoked potentials, Total intestinal ... OMIM:600501
Mannosidosis, Beta A, Lysosomal
Hearing impairment, Hyperactivity, Aggressive behavior OMIM:248510
Retinitis Pigmentosa 79
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Macular atrophy, O... OMIM:617460
Intellectual Developmental Disorder, X-Linked 104
Optic atrophy, Hyperactivity, Abnormal pinna morphology, Tremor, Cerebral cortical atrophy, Ataxi... OMIM:300983
Encephalopathy, Progressive, With Or Without Lipodystrophy
Cerebral atrophy, Hypertriglyceridemia, Hepatomegaly, Hyperactivity, Neuronal loss in central ner... OMIM:615924
Retinitis Pigmentosa 86
Bone spicule pigmentation of the retina, Cystoid macular edema, Nummular pigmentation of the fund... OMIM:618613
Mitochondrial Dna Depletion Syndrome 14 (Cardioencephalomyopathic Type)
Optic atrophy, Sensorineural hearing impairment, Retinal degeneration OMIM:616896
Intellectual Developmental Disorder, Autosomal Dominant 7
Hyperactivity, Abnormal pinna morphology, Stereotypical hand wringing, Gait disturbance, Cerebral... OMIM:614104
Intellectual Developmental Disorder, Autosomal Recessive 39
Hyperactivity, Anteverted ears, Macrotia, Motor stereotypy, Aggressive behavior OMIM:615541
Oculorenocerebellar Syndrome
Retinal degeneration OMIM:257970
Christianson Syndrome
Neuronal loss in central nervous system, Truncal ataxia, Cachexia, Cerebellar atrophy, Gait ataxi... ORPHA:85278
Spinocerebellar Ataxia, Autosomal Recessive 3
Hearing impairment, Cochlear degeneration OMIM:271250
Benign Paroxysmal Torticollis Of Infancy
Abnormal head movements, Ataxia, Torticollis, Vertigo ORPHA:71518
Bardet-Biedl Syndrome 4
Retinal degeneration, Rod-cone dystrophy OMIM:615982
Pontocerebellar Hypoplasia, Type 11
Limb ataxia, Difficulty walking, Inability to walk, Broad-based gait, Decreased body weight, Macr... OMIM:617695
Developmental And Epileptic Encephalopathy 104
Hyperactivity, Self-injurious behavior, Agitation OMIM:619970
Cone Dystrophy 3
Cone/cone-rod dystrophy, Macular atrophy OMIM:602093
Smith-Magenis Syndrome
Hypertriglyceridemia, Abnormal middle ear morphology, Abnormal nerve conduction velocity, Hyperac... OMIM:182290
Thiamine-Responsive Megaloblastic Anemia Syndrome
Optic atrophy, Sensorineural hearing impairment, Retinal degeneration, Cone/cone-rod dystrophy OMIM:249270
Autosomal Dominant Optic Atrophy Plus Syndrome
Optic atrophy, Temporal optic disc pallor, Sensorineural hearing impairment, Absent brainstem aud... ORPHA:1215
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
Hepatomegaly, Hyperactivity, Sensorineural hearing impairment, Brain atrophy, Tremor, Low-set ear... OMIM:618342
Lipoid Congenital Adrenal Hyperplasia
Renal salt wasting, Adrenogenital syndrome, Hypospadias, Congenital adrenal hyperplasia OMIM:201710
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome
Retinal degeneration, Pigmentary retinopathy ORPHA:3363
Deafness, Autosomal Dominant 77
Abnormal inner ear morphology, Sensorineural hearing impairment, Tinnitus OMIM:618915
Cone-Rod Dystrophy, X-Linked, 1
Hypoautofluorescent macular lesion, Retinal pigment epithelial mottling, Retinal pigment epitheli... OMIM:304020
Retinitis Pigmentosa 9
Macular edema, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Macular atrophy OMIM:180104
Retinitis Punctata Albescens
Yellow/white lesions of the retina, Cystoid macular edema, Retinal atrophy, Attenuation of retina... ORPHA:52427
Charcot-Marie-Tooth Disease, Type 4C
Delayed brainstem auditory evoked response conduction time, Distal sensory impairment, Abnormal c... OMIM:601596
Retinitis Pigmentosa 10
Bone spicule pigmentation of the retina, Geographic atrophy, Bull's eye maculopathy, Attenuation ... OMIM:180105
Nephronophthisis 15
Retinal degeneration OMIM:614845
Vitreoretinopathy With Phalangeal Epiphyseal Dysplasia
Lattice retinal degeneration, Rhegmatogenous retinal detachment OMIM:619248
Guanidinoacetate Methyltransferase Deficiency
Hyperactivity, Chorea, Athetosis, Abnormal head movements, Dystonia, Ataxia, Self-injurious behav... ORPHA:382
Achromatopsia 7
Absent foveal reflex, Macular atrophy, Hypoplasia of the fovea OMIM:616517
Retinitis Pigmentosa 41
Bone spicule pigmentation of the retina, Macular degeneration, Pigmentary retinopathy, Attenuatio... OMIM:612095
Disordered Steroidogenesis Due To Cytochrome P450 Oxidoreductase Deficiency
Increased circulating ACTH level, Ambiguous genitalia, Congenital adrenal hyperplasia OMIM:613571
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities
Cerebral atrophy, Inability to walk, Chorea, Cerebellar atrophy, Compulsive behaviors, Stereotypi... OMIM:618917
Severe Neurodegenerative Syndrome With Lipodystrophy
Cerebral atrophy, Hypertriglyceridemia, Cirrhosis, Hyperinsulinemia, Hepatomegaly, Generalized li... ORPHA:363400
Cone-Rod Dystrophy 15
Attenuation of retinal blood vessels, Rod-cone dystrophy, Retinal pigment epithelial atrophy OMIM:613660
Progressive Bifocal Chorioretinal Atrophy
Macular atrophy, Pigmentary retinopathy, Chorioretinal dystrophy ORPHA:75373
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Macular coloboma, Geographic atrophy, Sensorineural hearing impairment, Abnormal auditory evoked ... OMIM:619260
Cushing Disease
Optic nerve compression, Decreased eosinophil count, Increased urinary cortisol level, Increased ... ORPHA:96253
Acth-Independent Macronodular Adrenal Hyperplasia 2
Decreased circulating ACTH concentration, Macronodular adrenal hyperplasia, Increased body weight... OMIM:615954
Bardet-Biedl Syndrome 21
Retinal thinning, Hyperautofluorescent macular lesion, Retinal atrophy, Cone/cone-rod dystrophy, ... OMIM:617406
Fragile X Syndrome
Congenital macroorchidism, Hyperactivity, Macroorchidism, postpubertal, Recurrent hand flapping, ... OMIM:300624
Immunodeficiency, Common Variable, 6
Enlarged kidney, Hepatomegaly, Nephrotic range proteinuria, Abnormal T cell count, Mesangial Immu... OMIM:613496
Spinocerebellar Ataxia 7
Optic atrophy, Macular degeneration, Pigmentary retinopathy OMIM:164500
Retinitis Pigmentosa 58
Bone spicule pigmentation of the retina, Macular degeneration, Attenuation of retinal blood vesse... OMIM:613617
Leber Congenital Amaurosis 9
Optic atrophy, Macular coloboma, Macular hypopigmentation, Bone spicule pigmentation of the retin... OMIM:608553
Otosclerosis 7
Childhood onset sensorineural hearing impairment, Otosclerosis, Progressive hearing impairment, A... OMIM:611572
Mucolipidosis Iv
Optic atrophy, Retinal degeneration OMIM:252650
Cone-Rod Dystrophy And Hearing Loss 1
Macular degeneration, Sensorineural hearing impairment, Retinal atrophy OMIM:617236
Developmental And Epileptic Encephalopathy 30
Hypsarrhythmia, Motor stereotypy OMIM:616341
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features
Compulsive behaviors, Enuresis, Inflexible adherence to routines, Obesity, Failure to thrive in i... OMIM:613670
Myopia, High, With Cataract And Vitreoretinal Degeneration
Retinal detachment, Peripheral vitreoretinal degeneration, Vitreous floaters, Lattice retinal deg... OMIM:614292
Retinitis Pigmentosa 80
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Macular atrophy OMIM:617781
Retinitis Pigmentosa 84
Macular coloboma, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, ... OMIM:618220
Hsd10 Disease, Infantile Type
Optic atrophy, Cerebral atrophy, Frontotemporal cerebral atrophy, Abnormal concentration of acylc... ORPHA:391428
Autoimmune Polyendocrinopathy Type 1
Abnormal circulating calcium-phosphate regulating hormone concentration, Hypoparathyroidism, Adre... ORPHA:3453
Autosomal Dominant Spastic Ataxia Type 1
Spastic gait, Limb ataxia, Impaired proprioception, Difficulty walking, Jerky head movements, Imp... ORPHA:251282
Bardet-Biedl Syndrome 2
Retinal degeneration, Rod-cone dystrophy OMIM:615981
Inverted Duplicated Chromosome 15 Syndrome
Gonadal dysgenesis, Low-set, posteriorly rotated ears, Unilateral renal agenesis, Hyperactivity, ... ORPHA:3306
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7
Inappropriate behavior, Urinary incontinence, Neuronal loss in central nervous system, Gait distu... OMIM:600795
Mucopolysaccharidosis-Plus Syndrome
Optic atrophy, Enlarged kidney, Hepatomegaly, Anemia, Macrovesicular hepatic steatosis, Inability... OMIM:617303
Brunet-Wagner Neurodevelopmental Syndrome
Optic atrophy, Cerebral atrophy, Cerebellar atrophy, Motor stereotypy, Self-injurious behavior OMIM:619690
48,Xxyy Syndrome
Chronic otitis media, Inguinal hernia, Hypoplasia of penis, Azoospermia, Abnormal dental enamel m... ORPHA:10
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Decreased response to growth hormone stimulation test, Tremor, Gait disturbance, Decreased testic... ORPHA:457240
Nephronophthisis 14
Retinal degeneration OMIM:614844
Endocardial Fibroelastosis
Low-set, posteriorly rotated ears, Anterior hypopituitarism, Hypoplasia of penis, Abnormal helix ... ORPHA:2022
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Gonadal dysgenesis, Abnormal female external genitalia morphology, Hypoplasia of the uterus, Male... ORPHA:168563
Epilepsy With Eyelid Myoclonia
EEG with spike-wave complexes, Continuous spike and waves during slow sleep, Interictal epileptif... ORPHA:139431
Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination
Cerebral atrophy, Difficulty walking, Failure to thrive, Joint contracture, Motor stereotypy OMIM:617393
Oguchi Disease
Congenital stationary night blindness, Macular degeneration, Rod-cone dystrophy, Mizuo phenomenon ORPHA:75382
Severe Intellectual Disability And Progressive Spastic Paraplegia
Difficulty walking, Cerebellar atrophy, Waddling gait, Excessive shyness, Cerebral cortical atrop... ORPHA:280763
Hyperaldosteronism, Familial, Type Iii
Polydipsia, Polyuria, Hypercalciuria, Decreased circulating renin level, Adrenal hyperplasia, Hyp... OMIM:613677
Hepatorenocardiac Degenerative Fibrosis
Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Enlarged kidney, Tu... OMIM:619902
Combined Oxidative Phosphorylation Deficiency 47
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Sensorineural hearing impa... OMIM:618958
Baker-Gordon Syndrome
Dystonia, Ataxia, Motor stereotypy, Self-injurious behavior, EEG abnormality, Choreoathetosis OMIM:618218
Intellectual Developmental Disorder, X-Linked 101
Hyperactivity, Macrotia OMIM:300928
Combined Oxidative Phosphorylation Deficiency 34
Elevated circulating thyroid-stimulating hormone concentration, Hepatomegaly, Pancytopenia, Hyper... OMIM:617872
Late-Infantile/Juvenile Krabbe Disease
Acroparesthesia, Delayed brainstem auditory evoked response conduction time, Decreased nerve cond... ORPHA:206443
Xq28 (MECP2) duplication
Inability to walk, Gait ataxia, Functional abnormality of the bladder, Macrotia, Failure to thriv... DECIPHER:45
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Impaired tactile sensation, Tremor, Low-set ears, Gait ataxia, Ataxia, Large fleshy ears, Motor s... OMIM:619092
Maternal Uniparental Disomy Of Chromosome 6
Clitoral hypertrophy, Increased serum testosterone level, Inguinal hernia, Hydrocele testis, Thro... ORPHA:96181
Syngap1-Related Developmental And Epileptic Encephalopathy
Obsessive-compulsive trait, Hypospadias, Abnormality of pain sensation, Tremor, Anteverted ears, ... ORPHA:544254
Atypical Rett Syndrome
Pill-rolling tremor, Agitation, Restrictive behavior, Inability to walk, Tongue thrusting, Impair... ORPHA:3095
Amed Syndrome, Digenic
Anemia, Acute myeloid leukemia, Adrenal hypoplasia, Bone marrow hypocellularity, Failure to thriv... OMIM:619151
Retinitis Pigmentosa 77
Bone spicule pigmentation of the retina, Cystoid macular edema, Retinal atrophy, Attenuation of r... OMIM:617304
Developmental And Epileptic Encephalopathy 43
Hyperactivity, Attention deficit hyperactivity disorder, Impulsivity OMIM:617113
Charcot-Marie-Tooth Disease Type 1F
Limb ataxia, Impaired proprioception, Decreased nerve conduction velocity, Impaired pain sensatio... ORPHA:101085
Leukodystrophy, Hypomyelinating, 5
Delayed brainstem auditory evoked response conduction time, Truncal titubation, Intention tremor,... OMIM:610532
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency
Premature pubarche, Penoscrotal hypospadias, Hypospadias, Perineal hypospadias, Impaired cortisol... OMIM:201810
Ceroid Lipofuscinosis, Neuronal, 5
Retinal degeneration OMIM:256731
Foxg1 Syndrome
Difficulty walking, Inability to walk, Decreased body weight, Stereotypical hand wringing, Dyston... ORPHA:561854
Cortical Dysplasia, Complex, With Other Brain Malformations 2
Self-injurious behavior, Motor stereotypy, Polymicrogyria OMIM:615282
Dentici-Novelli Neurodevelopmental Syndrome
Hypsarrhythmia, Hearing impairment, Macrotia, Simplified gyral pattern, Motor stereotypy OMIM:619877
Meckel Syndrome, Type 8
Enlarged kidney, Polycystic kidney dysplasia, Low-set ears, Pericardial effusion, Hyperechogenic ... OMIM:613885
Intellectual Developmental Disorder, X-Linked 111
Hyperactivity, Hippocampal atrophy, Compulsive behaviors, Corpus callosum atrophy, Phonic tics, D... OMIM:301107
Cone-Rod Dystrophy 21
Macular atrophy, Retinal dystrophy OMIM:616502
Cushing Syndrome Due To Ectopic Acth Secretion
Pheochromocytoma, Increased body weight, Impaired glucose tolerance, Adrenal hyperplasia, Pulmona... ORPHA:99889
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Recurrent otitis media, Abnormal earlobe morphology, Hypospadias, Sensorineural hearing impairmen... ORPHA:500159
Alg6-Cdg
Low-set ears, Retinal degeneration, Rod-cone dystrophy ORPHA:79320
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Enlarged kidney, Ureteral duplication, Elevated circulating hepatic transaminase concentration, N... OMIM:608836
Retinitis Pigmentosa 56
Bone spicule pigmentation of the retina, Pigmentary retinopathy, Attenuation of retinal blood ves... OMIM:613581
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Inability to walk, Hyperactivity, Delayed early-childhood social milestone development, Tremor, C... OMIM:618090
Severe Early-Childhood-Onset Retinal Dystrophy
Granular macular appearance, Macular coloboma, Bone spicule pigmentation of the retina, Retinal d... ORPHA:364055
Retinitis Pigmentosa
Optic atrophy, Bone spicule pigmentation of the retina, Sensorineural hearing impairment, Conduct... ORPHA:791
Neurodevelopmental Disorder With Microcephaly And Movement Abnormalities
Hyperactivity, Chorea, Vesicoureteral reflux, Low-set ears, Waddling gait, Impulsivity, Gait atax... OMIM:620445
Fundus Dystrophy, Pseudoinflammatory, Recessive Form
Central retinal exudate, Peripheral retinal degeneration, Retinal hemorrhage OMIM:264420
Potocki-Lupski Syndrome
Atrial septal defect, Oral-pharyngeal dysphagia, Hyperactivity, Abnormal renal morphology, Patent... OMIM:610883
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome
Absent foveal reflex, Peripheral retinal atrophy, Retinal dystrophy OMIM:615147
Hyperaldosteronism, Familial, Type I
Decreased circulating renin level, Adrenal hyperplasia, Adrenogenital syndrome, Hyperaldosteronis... OMIM:103900
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency
Adrenal hyperplasia, Ambiguous genitalia, Adrenogenital syndrome, Male pseudohermaphroditism OMIM:202110
Cri-Du-Chat Syndrome
Optic atrophy, Abnormality of the kidney, Difficulty walking, Hypospadias, Inguinal hernia, Hyper... OMIM:123450
Ceroid Lipofuscinosis, Neuronal, 10
Low-set ears, Retinal atrophy, Rod-cone dystrophy OMIM:610127
Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome
Patchy atrophy of the retinal pigment epithelium, Attached earlobe, Undetectable visual evoked po... ORPHA:436245
Corticosterone Methyloxidase Type Ii Deficiency
Renal salt wasting, Orthostatic hypotension, Increased circulating corticosterone level, Increase... OMIM:610600
Late-Onset Familial Hypoaldosteronism
Elevated serum 11-deoxycortisol, Orthostatic hypotension, Abnormal circulating corticosterone lev... ORPHA:556037
Developmental Delay, Behavioral Abnormalities, And Neuropsychiatric Disorders
Attention deficit hyperactivity disorder, Periventricular nodular heterotopia, Motor stereotypy OMIM:620065
Intellectual Developmental Disorder, Autosomal Recessive 71
Unilateral renal agenesis, Ventricular septal defect, Macrotia, Motor stereotypy, Attention defic... OMIM:618504
Developmental And Epileptic Encephalopathy 107
Motor stereotypy OMIM:620033
Optic Atrophy 11
Optic atrophy, Decreased sensory nerve conduction velocity, Hyperactivity, Optic nerve hypoplasia... OMIM:617302
Early-Onset Familial Hypoaldosteronism
Elevated serum 11-deoxycortisol, Orthostatic hypotension, Abnormal circulating corticosterone lev... ORPHA:556030
Polycystic Kidney Disease 5
Enlarged kidney, Polycystic kidney dysplasia, Hepatosplenomegaly, Hyperechogenic kidneys, Reduced... OMIM:617610
Deafness, Autosomal Dominant 80
Cochlear aplasia, Abnormal semicircular canal morphology, Dilated vestibule of the inner ear, Con... OMIM:619274
Macular Dystrophy, Retinal, 3
Macular drusen, Retinal neovascularization, Hyperautofluorescent macular lesion, Retinal pigment ... OMIM:608850
Glycine Encephalopathy 1
Hyperactivity, Restlessness, Impulsivity, Aggressive behavior OMIM:605899
H Syndrome
Delayed puberty, Hypertriglyceridemia, Enlarged kidney, Abnormality of the kidney, Lymphadenopath... ORPHA:168569
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Abnormality of visual evoked potentials, Abnormal auditory evoked potentials, Optic disc pallor OMIM:617523
Proximal 16P11.2 Microdeletion Syndrome
Congenital diaphragmatic hernia, Abnormal aortic valve morphology, Dextrocardia, Sensorineural he... ORPHA:261197
Lopes-Maciel-Rodan Syndrome
Cerebral atrophy, Agitation, Cerebellar vermis atrophy, Tremor, Cerebellar atrophy, Dystonia, Uns... OMIM:617435
Beckwith-Wiedemann Syndrome
Neonatal hypoglycemia, Hepatomegaly, Enlarged kidney, Cardiomegaly, Adrenocortical carcinoma, Ren... OMIM:130650
Dihydropyrimidine Dehydrogenase Deficiency
Optic atrophy, Cerebral atrophy, Uraciluria, Elevated urinary dihydrothymine level, Hyperactivity... OMIM:274270
Refsum Disease, Classic
Sensorineural hearing impairment, Retinal degeneration, Rod-cone dystrophy OMIM:266500
Generalized Glucocorticoid Resistance Syndrome
Abnormal circulating testosterone concentration, Increased urinary cortisol level, Oligozoospermi... ORPHA:786
Pigmented Nodular Adrenocortical Disease, Primary, 3
Adrenal hyperplasia, Increased circulating cortisol level OMIM:614190
Beckwith-Wiedemann Syndrome
Congenital diaphragmatic hernia, Enlarged kidney, Ureteral duplication, Abnormal earlobe morpholo... ORPHA:116
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Retinopathy, Optic atrophy, Macular atrophy, Optic disc pallor OMIM:616171
Behavioral Variant Of Frontotemporal Dementia
Frontotemporal cerebral atrophy, Inappropriate behavior, Restrictive behavior, Gait disturbance, ... ORPHA:275864
Aa Amyloidosis
Abnormality of the kidney, Enlarged kidney, Hepatomegaly, Acute kidney injury, Cholestasis, Hypot... ORPHA:85445
Chromosome 2Q37 Deletion Syndrome
Hyperactivity, Sensorineural hearing impairment, Stereotypical hand wringing, Hypothyroidism, Ski... OMIM:600430
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Increased circulating androstenedione concentration, Clitoral hypertrophy, Precocious puberty in ... OMIM:202010
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Spastic gait, Male hypogonadism, Resting tremor, Tremor, Shuffling gait, Wrist flexion contractur... OMIM:300055
Nephronophthisis 16
Situs inversus totalis, Enlarged kidney, Nephronophthisis, Periportal fibrosis, Polycystic kidney... OMIM:615382
Leprechaunism
Clitoral hypertrophy, Enlarged kidney, Nephrocalcinosis, Hyperaldosteronism, Postprandial hypergl... ORPHA:508
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Abnormal temper tantrums, Recurrent otitis media, Hyperactivity, Recurrent hand flapping, Excessi... ORPHA:449291
Adult-Onset Autosomal Dominant Leukodystrophy
Impaired proprioception, Distal sensory impairment, Orthostatic hypotension, Sensorineural hearin... ORPHA:99027
Leukodystrophy, Hypomyelinating, 13
Optic atrophy, Delayed brainstem auditory evoked response conduction time, Ataxia, Exaggerated st... OMIM:616881
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Delayed puberty, Hypospadias, Hyperactivity, Cerebellar vermis atrophy, Abnormal pinna morphology... OMIM:300354
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Inability to walk, Tongue thrusting, Cerebellar atrophy, Recurrent hand flapping, Impulsivity, Ga... OMIM:619580
Reni Syndrome
Hypertriglyceridemia, Stage 5 chronic kidney disease, Sensorineural hearing impairment, Focal seg... OMIM:617575
Intellectual Developmental Disorder, Autosomal Dominant 67
Hyperactivity, Attention deficit hyperactivity disorder, Compulsive behaviors, Motor tics OMIM:619927
22Q11.2 Duplication Syndrome
Transposition of the great arteries, Ventricular septal defect, Compulsive behaviors, Hearing imp... ORPHA:1727
Retinitis Pigmentosa 60
Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Retinal pigment ep... OMIM:613983
Galloway-Mowat Syndrome 6
Decreased response to growth hormone stimulation test, Cerebellar vermis atrophy, Cerebellar atro... OMIM:618347
Episodic Ataxia Type 4
Abnormal head movements, Ataxia, Vertigo ORPHA:79136
Hypotaurinemic Retinal Degeneration And Cardiomyopathy
Retinal thinning, Photoreceptor layer loss on macular OCT, Attenuation of retinal blood vessels, ... OMIM:145350
Early-Onset Progressive Leukoencephalopathy-Central Nervous System Calcification-Deafness-Visual Impairment Syndrome
Head titubation, Vestibular areflexia, Absent brainstem auditory responses ORPHA:3240
Chorea, Childhood-Onset, With Psychomotor Retardation
Abnormal head movements, Chorea OMIM:616939
Late-Onset Retinal Degeneration
Drusen, Choroidal neovascularization, Patchy atrophy of the retinal pigment epithelium, Macular d... ORPHA:67042
Rett Syndrome
Agitation, Difficulty walking, Inability to walk, Abnormal autonomic nervous system physiology, S... ORPHA:778
Sjogren-Larsson Syndrome
Macular dots, Retinal thinning, Macular degeneration, Macular crystals, Retinal pigment epithelia... OMIM:270200
Classic Galactosemia
Delayed puberty, Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly,... ORPHA:79239
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type
Hypospadias, Inability to walk, Bruxism, Chorea, Low-set ears, Decreased body weight, Macrotia, A... OMIM:300260
Lamb-Shaffer Syndrome
Optic atrophy, Abnormal temper tantrums, Abnormal social behavior, Hyperactivity, Ataxia, Motor s... ORPHA:530983
Autism, Susceptibility To, 3
Inflexible adherence to routines, EEG abnormality, Restrictive behavior, Motor stereotypy OMIM:608049
Poretti-Boltshauser Syndrome
Retinal thinning, Retinal atrophy, Retinal dystrophy OMIM:615960
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome
Broad-based gait, Hyperactivity, Hearing impairment, Precocious puberty, Aggressive behavior ORPHA:457260
Perrault Syndrome 4
Hypoplasia of the ovary, Bicornuate uterus, Gait ataxia, Obesity, Decreased serum estradiol, Incr... OMIM:615300
Retinitis Pigmentosa 51
Attenuation of retinal blood vessels, Macular degeneration, Bone spicule pigmentation of the reti... OMIM:613464
Spastic Paraplegia 11, Autosomal Recessive
Macular degeneration, Retinal degeneration OMIM:604360
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type
Broad-based gait, Hyperactivity, Dysplastic pulmonary valve, Decreased body weight, Hearing impai... OMIM:300958
Dilated Cardiomyopathy With Ataxia
Optic atrophy, 3-Methylglutaconic aciduria, Neonatal hypoglycemia, Muscular ventricular septal de... ORPHA:66634
Paternal Uniparental Disomy Of Chromosome 1
Delayed puberty, Enlarged kidney, Abnormal dental enamel morphology, Brain atrophy, Polyphagia, E... ORPHA:251004
Congenital Toxoplasmosis
Jaundice, Elevated circulating hepatic transaminase concentration, Anemia, Lymphadenopathy, Hepat... ORPHA:858
Transketolase Deficiency
Atrial septal defect, Hepatomegaly, Increased level of ribose in urine, Patent foramen ovale, Com... ORPHA:488618
Myopathy With Extrapyramidal Signs
Optic atrophy, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Difficulty ... OMIM:615673
Retinitis Pigmentosa And Erythrocytic Microcytosis
Bone spicule pigmentation of the retina, Photoreceptor layer loss on macular OCT, Retinal atrophy... OMIM:616959
Juvenile Huntington Disease
Progressive cerebellar ataxia, Broad-based gait, Hyperactivity, Cerebellar vermis atrophy, Chorea... ORPHA:248111
Bardet-Biedl Syndrome 9
Attenuation of retinal blood vessels, Retinal degeneration, Bone spicule pigmentation of the reti... OMIM:615986
Developmental And Epileptic Encephalopathy 6B
Chorea, EEG with spike-wave complexes (>3.5 Hz), Dystonia, Ataxia, Motor stereotypy, Multifocal e... OMIM:619317
2Q23.1 Microdeletion Syndrome
Hypoplasia of penis, Hyperactivity, Polyphagia, Ataxia, Motor stereotypy, Self-injurious behavior... ORPHA:228402
Huntington Disease-Like 1
Jerky head movements, Chorea, Cerebellar atrophy, Gait disturbance, Gait ataxia, Cerebral cortica... ORPHA:157941
Snijders Blok-Campeau Syndrome
Perimembranous ventricular septal defect, Inguinal hernia, Broad-based gait, Low-set ears, Pulmon... OMIM:618205
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Agitation, Hyperactivity, Arthrogryposis-like hand anomaly, Patent foramen ovale, Low-set ears, V... ORPHA:369891
Neurodevelopmental Disorder With Brain Abnormalities, Poor Growth, And Dysmorphic Facies
Decreased response to growth hormone stimulation test, Recurrent otitis media, Hyperactivity, Bra... OMIM:615286
Juvenile Neuronal Ceroid Lipofuscinosis
Retinal degeneration, Optic disc pallor, Pigmentary retinopathy ORPHA:79264
Severe Motor And Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome
Optic atrophy, Hyperactivity, Brain atrophy, Cerebellar atrophy, Corpus callosum atrophy, Hearing... ORPHA:369939
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Sensorineural hearing impairment, Abnormal auditory evoked potentials OMIM:109120
Microcephaly 20, Primary, Autosomal Recessive
Optic nerve hypoplasia, Bilateral renal agenesis, Renal hypoplasia, Ureteral agenesis, Hyperechog... OMIM:617914
Smith-Magenis Syndrome
Chronic otitis media, Delayed puberty, Hypertriglyceridemia, Renal hypoplasia/aplasia, Impaired p... ORPHA:819
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures
Hyperactivity, Macrotia, Motor stereotypy, Attention deficit hyperactivity disorder, Aggressive b... OMIM:620292
Developmental And Epileptic Encephalopathy 28
Optic atrophy, Retinal degeneration, Uplifted earlobe OMIM:616211
Intellectual Developmental Disorder, Autosomal Dominant 52
Obsessive-compulsive trait, Hyperactivity, Sensorineural hearing impairment, Low-set ears, Bilate... OMIM:617796
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures
Optic atrophy, Cerebral atrophy, Athetosis, Cerebellar atrophy, Tremor, Cardiomyopathy, Diffuse c... OMIM:617710
Retinitis Pigmentosa 45
Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:613767
Jalili Syndrome
Bone spicule pigmentation of the retina, Cone/cone-rod dystrophy, Attenuation of retinal blood ve... OMIM:217080
Clcn4-Related X-Linked Intellectual Disability Syndrome
Progressive cerebellar ataxia, Inguinal hernia, Hyperactivity, Chorea, Compulsive behaviors, Cere... ORPHA:485350
Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter
Optic atrophy, Difficulty walking, Broad-based gait, Gait ataxia, Dystonia, Motor stereotypy, Pro... OMIM:617807
Intellectual Developmental Disorder, X-Linked 107
Hyperactivity, Abnormality of superior crus of antihelix, Prominent crus of helix, Macrotia, Atte... OMIM:301013
4Q21 Microdeletion Syndrome
Tremor, Low-set ears, Hearing impairment, Motor stereotypy, Self-injurious behavior ORPHA:238750
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Hypsarrhythmia, Prominent ear helix, Motor stereotypy, Large earlobe, Multifocal epileptiform dis... ORPHA:411986
Otosclerosis 8
Hearing impairment, Otosclerosis OMIM:612096
Otosclerosis 3
Hearing impairment, Otosclerosis OMIM:608244
Neurodevelopmental Disorder With Hypotonia, Impaired Language, And Dysmorphic Features
Impaired pain sensation, Brain atrophy, Low-set ears, Gait ataxia, Umbilical hernia, Overfriendli... OMIM:616579
Choroidal Atrophy-Alopecia Syndrome
Abnormality of retinal pigmentation, Glue ear, Patchy atrophy of the retinal pigment epithelium ORPHA:1433
Heterotaxy, Visceral, 1, X-Linked
Enlarged kidney, Biliary atresia, Pulmonic stenosis, Cardiomegaly, Right atrial isomerism, Transp... OMIM:306955
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Delayed puberty, Ambiguous genitalia, male, Absence of secondary sex characteristics, Abnormal se... ORPHA:90796
Intellectual Disability-Strabismus Syndrome
Congenital diaphragmatic hernia, Hyperactivity, Impulsivity, Congenital finger flexion contractur... ORPHA:363528
X-Linked Adrenoleukodystrophy
Abnormality of adrenal physiology, Hyperactivity, Progressive hearing impairment, Neurogenic blad... ORPHA:43
Developmental And Epileptic Encephalopathy 64
Inability to walk, Paroxysmal dystonia, Chorea, Cerebral cortical atrophy, Macrotia, Dystonia, Mo... OMIM:618004
Radio-Tartaglia Syndrome
Gait imbalance, Tremor, Low-set ears, Impulsivity, Hearing impairment, Conductive hearing impairm... OMIM:619312
Paget Disease Of Bone 5, Juvenile-Onset
Angioid streaks of the fundus, Sensorineural hearing impairment, Retinopathy, Hearing impairment,... OMIM:239000
Sjögren-Larsson Syndrome
Retinopathy, Macular degeneration, Abnormality of retinal pigmentation ORPHA:816
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Prelingual sensorineural hearing impairment, Hyperactivity, Sensorineural hearing impairment, Bil... ORPHA:73272
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type
Hyperactivity, Microphallus, Gait ataxia, Macrotia, Motor stereotypy, Small scrotum, Cryptorchidi... OMIM:300486
Intellectual Developmental Disorder, Autosomal Dominant 48
Recurrent otitis media, Hypospadias, Hyperactivity, Sensorineural hearing impairment, Low-set ear... OMIM:617751
Coffin-Siris Syndrome 6
Low-set ears, Conductive hearing impairment, Posteriorly rotated ears, Motor stereotypy, Attentio... OMIM:617808
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Optic atrophy, Enlarged kidney, Anemia, Inability to walk, Brain atrophy, Patent foramen ovale, H... ORPHA:505248
Vitreoretinal Degeneration, Snowflake Type
Retinal detachment, Retinal dots, Optically empty vitreous, Snowflake vitreoretinal degeneration OMIM:193230
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome
Abnormality of pattern visual evoked potentials, Low-set ears, Macrotia, Retinal degeneration, Ro... ORPHA:166035
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Unilateral renal agenesis, Ectopic kidney, Azoospermia, Bicornuate uterus, Renal agenesis, Conduc... OMIM:601076
Pick Disease Of Brain
Neuronal loss in central nervous system, Polyphagia, Inappropriate laughter, Disinhibition, Motor... OMIM:172700
Normosmic Congenital Hypogonadotropic Hypogonadism
Delayed puberty, Breast hypoplasia, Absence of secondary sex characteristics, Hypoplasia of the u... ORPHA:432
Galactokinase Deficiency
Hyperinsulinemia, Hepatomegaly, Sensorineural hearing impairment, Hypergonadotropic hypogonadism,... ORPHA:79237
Intellectual Developmental Disorder, X-Linked 98
Urinary incontinence, Hyperactivity, Recurrent hand flapping, Stereotypical hand wringing, Centra... OMIM:300912
Neuraminidase Deficiency
Hepatomegaly, Inguinal hernia, Sensorineural hearing impairment, Bone-marrow foam cells, Vacuolat... OMIM:256550
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Anorexia, Abnormal fear-induced behavior, Broad-based gait, Hyperactivity, Resting tremor, Tremor... ORPHA:3077
Nephronophthisis 9
Retinal degeneration OMIM:613824
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy
Cerebral atrophy, Global brain atrophy, Ankle flexion contracture, Inability to walk, Bilateral c... OMIM:617802
Brain-Lung-Thyroid Syndrome
Hyperactivity, Sensorineural hearing impairment, Chorea, Ataxia, Abnormal eating behavior, Abnorm... ORPHA:209905
Woodhouse-Sakati Syndrome
Elevated circulating thyroid-stimulating hormone concentration, Decreased serum insulin-like grow... OMIM:241080
Exudative Vitreoretinopathy 6
Posterior vitreous detachment, Retinal exudate, Patchy atrophy of the retinal pigment epithelium,... OMIM:616468
Alg9-Cdg
Enlarged kidney, Hypoplasia of the ovary, Cerebellar atrophy, Abnormal heart morphology, Right ve... ORPHA:79328
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities
Spastic gait, Scissor gait, Truncal ataxia, Facial diplegia, Hypertrophic cardiomyopathy, Secundu... OMIM:619121
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities
Hyperactivity, Low-set ears, Compulsive behaviors, Obesity, Posteriorly rotated ears, Ataxia, Mot... OMIM:618430
Hyperlysinemia, Type I
Argininuria, Anemia, Hyperactivity, Optic nerve hypoplasia, Dysdiadochokinesis, Ornithinuria, Hyp... OMIM:238700
Helsmoortel-Van Der Aa Syndrome
Enlarged kidney, Hyperactivity, Abnormal heart morphology, Dysphagia, Mitral valve prolapse, Brux... OMIM:615873
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Delayed puberty, Xanthelasma, Hepatocellular adenoma, Enlarged kidney, Hypertriglyceridemia, Tubu... ORPHA:79259
Intellectual Developmental Disorder, Autosomal Dominant 34
Hearing impairment, Bruxism, Motor stereotypy OMIM:616351
Abetalipoproteinemia
Retinopathy, Retinal degeneration OMIM:200100
Microphthalmia, Syndromic 9
Congenital diaphragmatic hernia, Multilobulated spleen, Renal malrotation, Inguinal hernia, Hypop... OMIM:601186
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Sensorineural hearing impairment, Retinal degeneration OMIM:615249
Nephronophthisis 3
Polydipsia, Polyuria, Enlarged kidney, Nephronophthisis, Hematuria, Tubulointerstitial fibrosis, ... OMIM:604387
Mucopolysaccharidosis, Type Iiib
Hepatomegaly, Hyperactivity, Asymmetric septal hypertrophy, Hearing impairment, Splenomegaly, Car... OMIM:252920
White-Sutton Syndrome
Congenital diaphragmatic hernia, Hyperactivity, Optic nerve hypoplasia, Sensorineural hearing imp... OMIM:616364
Intellectual Developmental Disorder, Autosomal Recessive 41
Self-injurious behavior, Hepatomegaly, Splenomegaly, Motor stereotypy OMIM:615637
Retinal Cone Dystrophy 3B
Cone/cone-rod dystrophy, Macular atrophy OMIM:610356
13Q12.3 Microdeletion Syndrome
Chronic otitis media, Congenital diaphragmatic hernia, Hyperactivity, Impaired pain sensation, Ca... ORPHA:412035
Müllerian Aplasia And Hyperandrogenism
Increased serum testosterone level, Abnormal vagina morphology, Abnormality of the ovary, Renal a... ORPHA:247768
Ritscher-Schinzel Syndrome 4
Chorea, Athetosis, Impulsivity, Macrotia, Ataxia, Dysphagia, Motor stereotypy, Cryptorchidism, Mi... OMIM:619435
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language
Low-set ears, Inability to walk, Motor stereotypy OMIM:613443
Cone-Rod Dystrophy 8
Macular degeneration, Abnormal optic nerve morphology, Cone/cone-rod dystrophy, Abnormality of re... OMIM:605549
Autosomal Recessive Polycystic Kidney Disease
Polydipsia, Enlarged kidney, Cholestasis, Ascites, Biliary hyperplasia, Splenomegaly, Oliguria, A... ORPHA:731
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Enlarged kidney, Enlarged polycystic ovaries, Elevated circulating growth hormone concentration, ... ORPHA:90301
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Abnormal temper tantrums, Atrial septal defect, Patent foramen ovale, Low-set ears, Contracture o... ORPHA:457279
8p23.1 deletion syndrome
Hyperactivity DECIPHER:39
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Inappropriate behavior, Nail-biting, Hyperactivity, Attention deficit hyperactivity disorder, Sel... OMIM:619827
Retinitis Pigmentosa 23
Absent foveal reflex, Attenuation of retinal blood vessels, Rod-cone dystrophy, Retinal pigment e... OMIM:300424
Stankiewicz-Isidor Syndrome
Ureteral duplication, Hypospadias, Hyperactivity, Truncus arteriosus, Low-set ears, Ventricular s... OMIM:617516
Cerebral Creatine Deficiency Syndrome 1
Underfolded superior helices, Aganglionic megacolon, Broad-based gait, Elevated urinary creatine/... OMIM:300352
16P12.1P12.3 Triplication Syndrome
Decreased response to growth hormone stimulation test, Abnormal tricuspid valve morphology, Abnor... ORPHA:485405
Diaphanospondylodysostosis
Enlarged kidney, Abnormal liver lobulation, Inguinal hernia, Nephroblastomatosis, Low-set ears, N... OMIM:608022
Rauch-Steindl Syndrome
Hepatomegaly, Aggressive behavior, Hyperactivity, Attached earlobe, Failure to thrive, Exocrine p... OMIM:619695
Bardet-Biedl Syndrome 17
Bone spicule pigmentation of the retina, Cone/cone-rod dystrophy, Retinal degeneration, Rod-cone ... OMIM:615994
Ogden Syndrome
Cerebral atrophy, Torticollis, Inguinal hernia, Low-set ears, Shuffling gait, Ventricular septal ... ORPHA:276432
Female Restricted Epilepsy With Intellectual Disability
Hyperactivity, Compulsive behaviors, Impulsivity, Abnormal eating behavior, Aggressive behavior ORPHA:101039
Polyendocrine-Polyneuropathy Syndrome
Decreased circulating follicle stimulating hormone concentration, Decreased circulating luteinizi... ORPHA:453533
Developmental And Epileptic Encephalopathy 66
Anemia, Dextrocardia, Broad-based gait, Ventricular septal defect, Motor stereotypy, Atrial septa... OMIM:618067
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Hypospadias, Head-banging, Dysplastic pulmonary valve, Recurrent urinary tract infections, Vesico... OMIM:619103
Acrocephalopolydactylous Dysplasia
Enlarged kidney, Hepatomegaly, Cystic renal dysplasia, Abnormal pinna morphology, Low-set ears, A... OMIM:200995
Renal-Hepatic-Pancreatic Dysplasia 1
Enlarged kidney, Hyperechogenic pancreas, Cholestasis, Biliary cirrhosis, Aortic valve stenosis, ... OMIM:208540
Rett Syndrome, Congenital Variant
Tongue thrusting, Chorea, Athetosis, Dystonia, Simplified gyral pattern, Motor stereotypy, Pachyg... OMIM:613454
Cone-Rod Dystrophy 10
Attenuation of retinal blood vessels, Macular degeneration, Bone spicule pigmentation of the reti... OMIM:610283
Shukla-Vernon Syndrome
Broad-based gait, Cerebellar atrophy, Impulsivity, Motor stereotypy, Attention deficit hyperactiv... OMIM:301029
Coffin-Siris Syndrome 7
Recurrent otitis media, Hyperactivity, Patent foramen ovale, Low-set ears, Compulsive behaviors, ... OMIM:618027
Non-Specific Early-Onset Epileptic Encephalopathy
Optic atrophy, Retinal degeneration ORPHA:442835
Cystinosis
Polydipsia, Delayed puberty, Nephropathy, Gait disturbance, Portal hypertension, Nephrogenic diab... ORPHA:213
Developmental And Epileptic Encephalopathy 95
Cerebral atrophy, Hepatomegaly, Inability to walk, Inguinal hernia, Multiple joint contractures, ... OMIM:618143
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Inguinal hernia, Joint contracture of the 5th finger, Patent foramen ovale, Impulsivity, Joint co... OMIM:618914
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor
Large for gestational age, Enlarged kidney, Inguinal hernia, Umbilical hernia, Nephroblastoma OMIM:618272
Ogden Syndrome
Left atrial enlargement, Enlarged kidney, Dysphagia, Umbilical hernia, Cardiomegaly, Bicuspid aor... OMIM:300855
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Cerebral atrophy, Inability to walk, Hyperactivity, Chorea, Impaired pain sensation, Impulsivity,... ORPHA:500180
Autosomal Recessive Ataxia Due To Pex10 Deficiency
Limb ataxia, Progressive cerebellar ataxia, Truncal ataxia, Type II diabetes mellitus, Diffuse ce... ORPHA:247815
Microtia
Hypoplastic helices, Unilateral conductive hearing impairment, Microtia, Abnormal pinna morpholog... ORPHA:83463
Perrault Syndrome 3
Sensorineural hearing impairment, Hypergonadotropic hypogonadism, Elevated circulating follicle s... OMIM:614129
Adult Krabbe Disease
Delayed brainstem auditory evoked response conduction time, Impaired tactile sensation, Ataxia, A... ORPHA:206448
Woodhouse-Sakati Syndrome
Delayed puberty, Decreased response to growth hormone stimulation test, Hypoplasia of the uterus,... ORPHA:3464
Zika Virus Disease
Optic disc hypoplasia, Chorioretinal atrophy, Abnormal optic disc morphology, Transient hearing i... ORPHA:448237
47,Xyy Syndrome
Hypospadias, Increased serum testosterone level, Azoospermia, Hyperactivity, Low-set ears, Oligoz... ORPHA:8
Doors Syndrome
Optic atrophy, Low-set ears, Congenital hypothyroidism, Atresia of the external auditory canal, A... ORPHA:79500
Blepharophimosis-Impaired Intellectual Development Syndrome
Hypospadias, Labial hypoplasia, Recurrent urinary tract infections, Low-set ears, Enuresis, Ename... OMIM:619293
Intellectual Developmental Disorder, Autosomal Dominant 45
Neonatal hypoglycemia, Hyperactivity, Chorea, Recurrent hand flapping, Pulmonic stenosis, Slender... OMIM:617600
7Q11.23 Microduplication Syndrome
Chronic otitis media, Congenital diaphragmatic hernia, Abnormal earlobe morphology, Hyperactivity... ORPHA:96121
Intellectual Developmental Disorder, Autosomal Dominant 43
Hyperactivity, Attached earlobe, Microtia, Frontal cortical atrophy, Impulsivity, Pulmonic stenos... OMIM:616977
Cone-Rod Dystrophy 2
Bone spicule pigmentation of the retina, Chorioretinal atrophy, Cone/cone-rod dystrophy, Retinal ... OMIM:120970
19P13.12 Microdeletion Syndrome
Hypospadias, Hyperactivity, Sensorineural hearing impairment, Abnormal pinna morphology, Low-set ... ORPHA:254346
Glycogen Storage Disease Ib
Delayed puberty, Xanthelasma, Enlarged kidney, Hepatomegaly, Elevated circulating hepatic transam... OMIM:232220
Legius Syndrome
Xanthelasma, Ovarian neoplasm, Hyperactivity, Acute monocytic leukemia, Nephrolithiasis, Hearing ... ORPHA:137605
Cntnap2-Related Developmental And Epileptic Encephalopathy
Abnormal temper tantrums, Hepatomegaly, Hyperactivity, Cerebellar vermis atrophy, Stereotypical h... ORPHA:163681
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Hyperactivity, Macrotia, Motor stereotypy, Lymphopenia, Aggressive behavior ORPHA:391307
Late Infantile Neuronal Ceroid Lipofuscinosis
Obsessive-compulsive trait, EEG with spike-wave complexes, Hyperactivity, Abnormal amplitude of f... ORPHA:168491
Kleefstra Syndrome
Chronic otitis media, Hypoplasia of penis, Bicuspid aortic valve, Hernia, Thickened helices, Aggr... ORPHA:261494
Phelan-Mcdermid Syndrome
Abnormality of the kidney, Tongue thrusting, Broad-based gait, Impaired pain sensation, Polycysti... OMIM:606232
Huntington Disease-Like 3
Urinary incontinence, Broad-based gait, Chorea, Cerebral cortical atrophy, Dystonia, Flexion cont... ORPHA:157946
Renal-Hepatic-Pancreatic Dysplasia 2
Situs inversus totalis, Enlarged kidney, Hepatomegaly, Truncus arteriosus, Cholestasis, Hypertrop... OMIM:615415
Kleefstra Syndrome 1
Hypospadias, Abnormal renal morphology, Abnormal pinna morphology, Conotruncal defect, Compulsive... OMIM:610253
Macrocephaly-Developmental Delay Syndrome
Self-injurious behavior, EEG with generalized slow activity, Motor stereotypy, Abnormal speech di... ORPHA:397612
Renal Cysts And Diabetes Syndrome
Elevated circulating hepatic transaminase concentration, Multiple glomerular cysts, Abnormal rena... OMIM:137920
Silver-Russell Syndrome Due To A Point Mutation
Hypospadias, Inguinal hernia, Low-set ears, Bifid scrotum, Microphallus, Hypothyroidism, Abnormal... ORPHA:397590
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia
Hyperactivity, Attention deficit hyperactivity disorder OMIM:617182
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Enlarged kidney, Hepatomegaly, Periportal fibrosis, Tubulointerstitial fibrosis, Polycystic kidne... OMIM:263200
46,Xy Sex Reversal 4
Gonadal dysgenesis, Recurrent otitis media, Hypoplastic labia majora, Sensorineural hearing impai... OMIM:154230
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome
Retinal atrophy, Retinal dystrophy ORPHA:370022
Hyperparathyroidism, Transient Neonatal
Enlarged kidney, Unilateral renal agenesis, Inguinal hernia, Splenic cyst, Low-set ears, Ovarian ... OMIM:618188
Developmental Delay, Language Impairment, And Ocular Abnormalities
Inguinal hernia, Hyperactivity, Frequent temper tantrums, Impulsivity, Pulmonic stenosis, Hydrone... OMIM:620141
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis, Dysphagia, Motor stereotypy, Disinhibition OMIM:612069
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type
Cholelithiasis, Hyperactivity, Shuffling gait, Decreased body weight, Decreased testicular size, ... OMIM:300534
Combined Oxidative Phosphorylation Deficiency 10
Optic atrophy, Ascites, Hypertrophic cardiomyopathy, Pericardial effusion, Failure to thrive, Dys... OMIM:614702
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
Hypospadias, Glomerular sclerosis, Head tremor, Cerebral cortical atrophy, Nephrotic syndrome, At... OMIM:619428
Intellectual Developmental Disorder With Autistic Features And Language Delay, With Or Without Seizures
Attention deficit hyperactivity disorder, Spastic ataxia, Motor stereotypy OMIM:618906
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs
Congenital diaphragmatic hernia, Ovotestis, Hypospadias, Low-set ears, Hypoplasia of the bladder,... OMIM:611812
Hydroxykynureninuria
Congenital sensorineural hearing impairment, Motor stereotypy ORPHA:79155
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Optic atrophy, Cerebral atrophy, Premature pubarche, Elevated circulating hepatic transaminase co... OMIM:616878
Spastic Paraplegia 15, Autosomal Recessive
Macular degeneration, Retinal degeneration OMIM:270700
Retinitis Pigmentosa 82 With Or Without Situs Inversus
Rod-cone dystrophy, Macular atrophy, Optic disc pallor OMIM:615434
Chromosome 15Q11.2 Deletion Syndrome
Compulsive behaviors, Macrotia, Joint contracture, Ataxia, Abnormal heart morphology, Motor stere... OMIM:615656
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Optic atrophy, Limb ataxia, 3-Methylglutaconic aciduria, Increased hepatic glycogen content, Vert... OMIM:619259
Mucopolysaccharidosis, Type Iiia
Hepatomegaly, Inguinal hernia, Hyperactivity, Asymmetric septal hypertrophy, Hearing impairment, ... OMIM:252900
X-Linked Cerebral Adrenoleukodystrophy
Global brain atrophy, Difficulty walking, Inability to walk, Hyperactivity, Gait disturbance, Ham... ORPHA:139396
Polyendocrine-Polyneuropathy Syndrome
Anterior pituitary hypoplasia, Progressive hearing impairment, Hypoglycemia, Decreased testicular... OMIM:616113
Glycogen Storage Disease Ia
Delayed puberty, Xanthelasma, Enlarged kidney, Hepatomegaly, Pancreatitis, Elevated circulating h... OMIM:232200
Intellectual Developmental Disorder, X-Linked 21
Hyperactivity, Uplifted earlobe, Macroorchidism, Impulsivity OMIM:300143
Alazami Syndrome
Low-set ears, Stereotypical hand wringing, Motor stereotypy, Abnormal eating behavior, Self-mutil... ORPHA:319671
Leber Congenital Amaurosis 15
Optic disc pallor, Attenuation of retinal blood vessels, Peripapillary atrophy, Retinal degenerat... OMIM:613843
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Resting tremor, Chorea, Intention tremor, Dystonia, Ataxia, Motor stereotypy, Motor tics, Attenti... OMIM:619725
Acute Zonal Occult Outer Retinopathy
Vitritis, Marcus Gunn pupil, Pigmentary retinopathy, Abnormal fundus fluorescein angiography, Mac... ORPHA:284454
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Optic atrophy, Cerebral atrophy, Renal steatosis, Hepatomegaly, Ketonuria, Fasting hypoglycemia, ... OMIM:261680
Chronic Bilirubin Encephalopathy
Sensorineural hearing impairment, Abnormal auditory evoked potentials ORPHA:529808
Acute Bilirubin Encephalopathy
Sensorineural hearing impairment, Abnormal auditory evoked potentials ORPHA:529799
Multiple Sulfatase Deficiency
Hearing impairment, Retinal degeneration OMIM:272200
Neurodevelopmental Disorder With Language Delay And Variable Cognitive Abnormalities
Attention deficit hyperactivity disorder, Optic nerve hypoplasia, Motor stereotypy OMIM:620502
Tyrosinemia, Type I
Elevated urinary delta-aminolevulinic acid, Cirrhosis, Hepatomegaly, Elevated circulating hepatic... OMIM:276700
Adenylosuccinase Deficiency
Cerebral atrophy, Elevated urinary succinylaminoimidazole carboxamide riboside level, Inability t... OMIM:103050
Hypotrichosis With Juvenile Macular Degeneration
Abnormality of macular pigmentation, Macular degeneration ORPHA:1573
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Agitation, Hepatomegaly, Failure to thrive, Ataxia, Motor stereotypy ORPHA:927
Angelman Syndrome
Optic atrophy, Precocious puberty in females, Tongue thrusting, Broad-based gait, Hyperactivity, ... ORPHA:72
Endocrine-Cerebroosteodysplasia
Enlarged kidney, Hypospadias, Adrenal hypoplasia, Low-set ears, Microphallus, Hyperechogenic kidn... OMIM:612651
Mucolipidosis Ii Alpha/Beta
Tip-toe gait, Enlarged kidney, Recurrent otitis media, Hepatomegaly, Inguinal hernia, Camptodacty... OMIM:252500
Autosomal Dominant Polycystic Kidney Disease
Enlarged kidney, Hematuria, Decreased glomerular filtration rate, Calcium oxalate nephrolithiasis... ORPHA:730
Developmental And Speech Delay Due To Sox5 Deficiency
Optic atrophy, Motor stereotypy, Attention deficit hyperactivity disorder, Self-injurious behavio... ORPHA:313892
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy
Paroxysmal dystonia, Interictal epileptiform activity, EEG with focal spikes, Increased theta fre... ORPHA:98784
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Tremor, Compulsive behaviors, Macrotia, Dysphagia, Motor stereotypy, Pain insensitivity, Attentio... OMIM:617061
Intellectual Developmental Disorder, Autosomal Recessive 38
Hyperactivity, Recurrent hand flapping, Self-mutilation, Aggressive behavior OMIM:615516
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type
Recurrent hand flapping, Compulsive behaviors, Gait disturbance, Failure to thrive, Ataxia, Motor... OMIM:300986
Perrault Syndrome 6
Sensorineural hearing impairment, Streak ovary, Hypoplasia of the uterus OMIM:617565
5Q14.3 Microdeletion Syndrome
Optic nerve hypoplasia, Frontal cortical atrophy, Motor stereotypy ORPHA:228384
Myoectodermal Gonadal Dysgenesis Syndrome
Gonadal dysgenesis, Unilateral renal agenesis, Accessory spleen, Sensorineural hearing impairment... OMIM:618419
Fg Syndrome 3
Hyperactivity, Sensorineural hearing impairment, Joint contracture, Cryptorchidism OMIM:300406
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Ankle flexion contracture, Hypospadias, Unilateral renal agenesis, Pelvic kidney, Ventricular sep... ORPHA:464311
Meckel Syndrome 12
Bilateral renal agenesis, Low-set ears, Ureteral hypoplasia, Renal hypoplasia, Vaginal atresia, A... OMIM:616258
Fbln1-Related Developmental Delay-Central Nervous System Anomaly-Syndactyly Syndrome
Macular degeneration, Choroidal neovascularization ORPHA:404451
Birdshot Chorioretinopathy
Abnormal chorioretinal morphology, Vitreous floaters, Vitritis, Retinal pigment epithelial atrophy OMIM:605808
Denys-Drash Syndrome
Congenital diaphragmatic hernia, Ambiguous genitalia, male, Gonadal dysgenesis, Enlarged kidney, ... OMIM:194080
Obesity, Hyperphagia, And Developmental Delay
Polyphagia, Motor stereotypy OMIM:613886
Mucopolysaccharidosis, Type Iiic
Hepatomegaly, Hyperactivity, Asymmetric septal hypertrophy, Hearing impairment, Splenomegaly, Dys... OMIM:252930
Infantile Neuroaxonal Dystrophy
Optic atrophy, Hyperactivity, Cerebellar atrophy, Abnormal autonomic nervous system physiology, I... ORPHA:35069
Retinitis Pigmentosa With Or Without Skeletal Anomalies
Low-set ears, Macrotia, Retinal degeneration, Rod-cone dystrophy, Hypoautofluorescent retinal lesion OMIM:250410
Combined Oxidative Phosphorylation Deficiency 41
Anemia, Hearing impairment, Decreased circulating cortisol level, Cardiomegaly, Hypoglycemia OMIM:618838
Seckel Syndrome 7
Central hypothyroidism, Microtia, Hypoplasia of the uterus OMIM:614851
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Delayed puberty, Hypoplasia of the ovary, Decreased circulating gonadotropin concentration, Decre... OMIM:614841
Progressive Supranuclear Palsy-Corticobasal Syndrome
Jerky head movements, Tremor, Focal dystonia, Dysphagia, Somatic sensory dysfunction ORPHA:240103
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features
Tongue thrusting, Broad-based gait, Hyperactivity, Cerebral cortical atrophy, Failure to thrive, ... OMIM:617865
Pituitary Stalk Interruption Syndrome
Delayed puberty, Hypoplasia of penis, Diabetes insipidus, Adrenal hypoplasia, Septo-optic dysplas... ORPHA:95496
X-Linked Intellectual Disability, Cabezas Type
Abnormal earlobe morphology, Inguinal hernia, Hypoplasia of penis, Hyperactivity, Broad-based gai... ORPHA:85293
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
Global brain atrophy, Inability to walk, Sensorineural hearing impairment, Brain atrophy, Limb dy... ORPHA:457351
Purine Nucleoside Phosphorylase Deficiency
Autoimmune hemolytic anemia, Abnormal T cell morphology, Decreased proportion of CD3-positive T c... ORPHA:760
2Q37 Microdeletion Syndrome
Congenital diaphragmatic hernia, Multicystic kidney dysplasia, Compulsive behaviors, Nephroblasto... ORPHA:1001
Aceruloplasminemia
Retinal degeneration OMIM:604290
Pitt-Hopkins-Like Syndrome 1
Hyperactivity, Ataxia, Motor stereotypy, Attention deficit hyperactivity disorder, EEG abnormalit... OMIM:610042
Hemihyperplasia-Multiple Lipomatosis Syndrome
Lipoatrophy, Enlarged kidney, Microtia, Nephroblastoma, Ovarian serous cystadenoma, Multiple lipo... ORPHA:276280
Dyrk1A-Related Intellectual Disability Syndrome
Hyperactivity, Aortic valve stenosis, Breast hypoplasia, Hypospadias, Pelvic kidney, Cryptorchidi... ORPHA:464306
Chromosome 5P13 Duplication Syndrome
Vesicoureteral reflux, Low-set ears, Compulsive behaviors, Posteriorly rotated ears, Motor stereo... OMIM:613174
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Decreased nerve conduction velocity, Aganglionic megacolon, Distal sensory impairment, Torticolli... OMIM:609136
New-Onset Refractory Status Epilepticus
EEG with spike-wave complexes, Interictal EEG abnormality, EEG with frontal epileptiform discharg... ORPHA:363558
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Renal malrotation, Large for gestational age, Enlarged kidney, Inguinal hernia, Abnormal right ve... ORPHA:500095
Lipodystrophy, Congenital Generalized, Type 1
Hypertriglyceridemia, Clitoral hypertrophy, Elevated circulating hepatic transaminase concentrati... OMIM:608594
7Q31 Microdeletion Syndrome
Abnormal temper tantrums, Childhood onset sensorineural hearing impairment, Torticollis, Galactos... ORPHA:251061
Chromosome 10Q26 Deletion Syndrome
Small scrotum, Broad-based gait, Hyperactivity, Sensorineural hearing impairment, Vesicoureteral ... OMIM:609625
Senior-Loken Syndrome 9
Macular degeneration, Rod-cone dystrophy, Retinal dystrophy OMIM:616629
3P25.3 Microdeletion Syndrome
Knee flexion contracture, Sensorineural hearing impairment, Pulmonic stenosis, Ataxia, Motor ster... ORPHA:435638
Graves Disease
Increased circulating free T3, Decreased thyroid-stimulating hormone level, Hyperactivity, Abnorm... OMIM:275000
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Retinal degeneration OMIM:615630
Axial Spondylometaphyseal Dysplasia
Optic atrophy, Retinal dystrophy, Rod-cone dystrophy, Peripheral retinal degeneration ORPHA:168549
Mitochondrial Complex Iii Deficiency, Nuclear Type 7
Hyperactivity, Sensorineural hearing impairment, Failure to thrive, Proximal renal tubular acidos... OMIM:615824
Meacham Syndrome
Blind vagina, Enlarged kidney, Transposition of the great arteries, Dextrocardia, Cardiac total a... OMIM:608978
Pigmented Nodular Adrenocortical Disease, Primary, 2
Agitation, Pancreatitis, Decreased circulating ACTH concentration, Pigmented micronodular adrenoc... OMIM:610475
Igg4-Related Kidney Disease
Decreased liver function, Enlarged kidney, Sclerosing cholangitis, Pericarditis, Cholecystitis, U... ORPHA:449395
Lymphoid Interstitial Pneumonia
Enlarged kidney, Hepatomegaly, Mediastinal lymphadenopathy, Abnormality of connective tissue, Hyp... ORPHA:79128
Neurodevelopmental Disorder With Poor Language And Loss Of Hand Skills
Agitation, Recurrent hand flapping, Abnormal autonomic nervous system physiology, Dystonia, Bruxism OMIM:617903
Posterior-Predominant Lissencephaly-Broad Flat Pons And Medulla-Midline Crossing Defects Syndrome
Pachygyria, Optic nerve hypoplasia, Dysphagia, Motor stereotypy ORPHA:572013
Pediatric-Onset Graves Disease
Polydipsia, Increased circulating T4 concentration, Increased circulating free T3, Jaundice, Elev... ORPHA:525731
Choreoacanthocytosis
Socially inappropriate behavior, Hair-pulling, Hyperactivity, Head-banging, Chorea, Abnormal eryt... ORPHA:2388
Den Hoed-De Boer-Voisin Syndrome
Amelogenesis imperfecta, Agitation, Global brain atrophy, Inability to walk, Recurrent urinary tr... OMIM:619229
Infantile Krabbe Disease
Optic atrophy, Delayed brainstem auditory evoked response conduction time, Decreased nerve conduc... ORPHA:206436
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities
Cerebral atrophy, Pulmonic stenosis, Macrotia, Enamel hypoplasia, Inappropriate laughter, Secundu... OMIM:615802
White-Sutton Syndrome
Optic atrophy, Congenital diaphragmatic hernia, Ventral hernia, Inguinal hernia, Duplicated colle... ORPHA:468678
Nephronophthisis 2
Situs inversus totalis, Enlarged kidney, Nephronophthisis, Chronic tubulointerstitial nephritis, ... OMIM:602088
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Cerebral atrophy, HbH hemoglobin, Perimembranous ventricular septal defect, Hypochromic microcyti... OMIM:301040
Lipodystrophy, Congenital Generalized, Type 2
Hypertriglyceridemia, Clitoral hypertrophy, Elevated circulating hepatic transaminase concentrati... OMIM:269700
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency
Hearing impairment, Retinal atrophy ORPHA:412057
Hypobetalipoproteinemia, Familial, 1
Retinal degeneration, Rod-cone dystrophy OMIM:615558
Pyruvate Dehydrogenase E2 Deficiency
Jerky head movements, Paroxysmal dystonia, Dystonia, Ataxia, Generalized dystonia, Choreoathetosis OMIM:245348
Spastic Paraplegia 29, Autosomal Dominant
Urinary incontinence, Hyperactivity, Sensorineural hearing impairment, Urinary hesitancy, Urinary... OMIM:609727
Late-Onset Isolated Acth Deficiency
Anorexia, Normocytic anemia, Hypoparathyroidism, Orthostatic hypotension, Macrocytic anemia, Decr... ORPHA:199299
Fucosidosis
Lipoatrophy, Hepatomegaly, Abnormality of the gallbladder, Hearing impairment, Hypothyroidism, Mu... ORPHA:349
Bardet-Biedl Syndrome 1
Bone spicule pigmentation of the retina, Aganglionic megacolon, Retinal dystrophy, Hyperautofluor... OMIM:209900
Mucopolysaccharidosis Type 3
Chronic otitis media, Mixed hearing impairment, Hyperactivity, Sensorineural hearing impairment, ... ORPHA:581
Xq21 Microdeletion Syndrome
Abnormal chorioretinal morphology, Optic atrophy, Chorioretinal degeneration, Sensorineural heari... ORPHA:1435
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly
Obsessive-compulsive trait, Pain insensitivity, Motor stereotypy, Attention deficit hyperactivity... OMIM:618825
Insulin-Like Growth Factor I Deficiency
Hyperactivity, Sensorineural hearing impairment, Decreased body weight, Elevated circulating grow... OMIM:608747
Cardiac-Urogenital Syndrome
Congenital diaphragmatic hernia, Enlarged kidney, Mesocardia, Aplasia of the uterus, Bifid scrotu... OMIM:618280
Renal Dysplasia
Pelvic mass, Enlarged kidney, Urinary incontinence, Renal hypoplasia/aplasia, Abnormal nephron mo... ORPHA:93108
Congenital Disorder Of Glycosylation, Type Iia
Sensorineural hearing impairment, Low-set ears, Stereotypical hand wringing, Macrotia, Failure to... OMIM:212066
Estrogen Resistance Syndrome
Breast hypoplasia, Absence of secondary sex characteristics, Hyperinsulinemia, Abnormal circulati... ORPHA:785
Neurodevelopmental Disorder With Impaired Language, Behavioral Abnormalities, And Dysmorphic Facies
Oromandibular dystonia, Aggressive behavior, Recurrent urinary tract infections, Microtia, Tremor... OMIM:620494
Intellectual Developmental Disorder, Autosomal Dominant 38
Hair-pulling, Low-set ears, Ataxia, Motor stereotypy, Self-injurious behavior, Bruxism, Aggressiv... OMIM:616393
X-Linked Creatine Transporter Deficiency
Aganglionic megacolon, Hyperactivity, Chorea, Cachexia, Athetosis, Dystonia, Ataxia, Self-mutilation ORPHA:52503
Cortisone Reductase Deficiency 2
Insulin resistance, Obesity, Premature pubarche, Low tetrahydrocortisol (THF) plus 5-alpha-THF/te... OMIM:614662
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Delayed puberty, Elevated circulating hepatic transaminase concentration, Hyperactivity, Bifid sc... OMIM:619475
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Inability to walk, Torticollis, Delayed early-childhood social milestone development, Sensorineur... ORPHA:300570
X-Linked Intellectual Disability, Cantagrel Type
Cerebral cortical atrophy, Shawl scrotum, Motor stereotypy ORPHA:85277
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Decreased circulating androstenedione concentration, Clitoral hypertrophy, Decreased circulating ... OMIM:201750
Estrogen Resistance
Delayed puberty, Increased circulating osteocalcin level, Hyperinsulinemia, Breast aplasia, Impai... OMIM:615363
Megalocornea-Intellectual Disability Syndrome
Sensorineural hearing impairment, Ataxia, Motor stereotypy, Protruding ear, EEG abnormality ORPHA:2479
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Steppage gait, Inability to walk, Abnormal atrioventricular valve morphology, Aortic valve stenos... ORPHA:324410
Bone Marrow Failure Syndrome 3
Aplastic anemia, Amelogenesis imperfecta, Hyperechogenic pancreas, Neutropenia, Acute myeloid leu... OMIM:617052
Mucopolysaccharidosis, Type Iiid
Agitation, Recurrent otitis media, Hepatomegaly, Difficulty walking, Inguinal hernia, Hyperactivi... OMIM:252940
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Hypoplasia of the uterus, Azoospermia, Decreased circulating follicle stimulating hormone concent... OMIM:614837
Bietti Crystalline Corneoretinal Dystrophy
Chorioretinal atrophy, Retinal degeneration OMIM:210370
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism
Delayed puberty, Decreased response to growth hormone stimulation test, Low-set ears, Posteriorly... OMIM:615866
Mannosidosis, Alpha B, Lysosomal
Sensorineural hearing impairment, Retinal degeneration, Macrotia OMIM:248500
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies
Difficulty walking, Supernumerary nipple, Inguinal hernia, Pelvic kidney, Patent foramen ovale, V... OMIM:618653
Papillorenal Syndrome
Retinal detachment, Macular degeneration, Chorioretinal atrophy, Sensorineural hearing impairment... OMIM:120330
Mucopolysaccharidosis Type 2
Hyperactivity, Sensorineural hearing impairment, Cardiomyopathy, Impulsivity, Abnormal mitral val... ORPHA:580
Addison Disease
Delayed puberty, Vertigo, Decreased circulating cortisol level, Type I diabetes mellitus, Thiamin... ORPHA:85138
Macrophthalmia, Colobomatous, With Microcornea
Macular atrophy, Chorioretinal coloboma, Optic disc coloboma OMIM:602499
Retinitis Pigmentosa 37
Cystoid macular degeneration, Rod-cone dystrophy, Pigmentary retinopathy OMIM:611131
1P36 Deletion Syndrome
Abnormal female external genitalia morphology, Hypoplasia of penis, Sensorineural hearing impairm... ORPHA:1606
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
Recurrent otitis media, Hepatomegaly, Cholelithiasis, Precocious puberty, Obesity, Posteriorly ro... OMIM:301066
Pseudoxanthoma Elasticum
Retinal peau d'orange, Choroidal neovascularization, Angioid streaks of the fundus, Optic disc dr... OMIM:264800
Joubert Syndrome 6
Retinal degeneration, Chorioretinal coloboma OMIM:610688
Cerebrotendinous Xanthomatosis
Optic atrophy, Agitation, Decreased nerve conduction velocity, Aggressive behavior, Resting tremo... ORPHA:909
Ovarian Dysgenesis 7
Delayed puberty, Elevated circulating follicle stimulating hormone level, Elevated circulating lu... OMIM:618117
Short Stature, Developmental Delay, And Congenital Heart Defects
Attention deficit hyperactivity disorder, Self-injurious behavior, Compulsive behaviors, Motor st... OMIM:617044
Gaucher Disease, Perinatal Lethal
Hepatomegaly, Anemia, Akinesia, Cardiomegaly, Microtia, Low-set ears, Ascites, Decreased body wei... OMIM:608013
Hydrolethalus Syndrome 1
Adrenal gland dysgenesis, Hypospadias, Abnormal vagina morphology, Accessory spleen, Abnormal pin... OMIM:236680
46,Xy Sex Reversal 3
Gonadal dysgenesis, Clitoral hypertrophy, Penoscrotal hypospadias, Exaggerated rugosity of the la... OMIM:612965
Niemann-Pick Disease, Type C2
Sea-blue histiocytosis, Jaundice, Hepatomegaly, Bone-marrow foam cells, Prolonged neonatal jaundi... OMIM:607625
Chromosome 15Q25 Deletion Syndrome
Congenital diaphragmatic hernia, Dextrocardia, Macrocytic anemia, Inguinal hernia, Hyperactivity,... OMIM:614294
21Q22.11Q22.12 Microdeletion Syndrome
Recurrent otitis media, Anemia, Tongue thrusting, Hyperactivity, Microtia, Hypoplastic nipples, L... ORPHA:261323
Congenital Megacalycosis
Enlarged kidney, Hematuria, Dilatation of renal calices, Recurrent urinary tract infections, Neph... ORPHA:93109
Retinal Dystrophy And Iris Coloboma With Or Without Cataract
Retinal atrophy OMIM:616722
Neurodegeneration With Brain Iron Accumulation 2B
Optic atrophy, Cerebral atrophy, Hyperactivity, Chorea, Dysdiadochokinesis, Cerebellar atrophy, I... OMIM:610217
Retinitis Pigmentosa 97
Macular degeneration, Rod-cone dystrophy OMIM:620422
Bilateral Generalized Polymicrogyria
Oculogyric crisis, Oral-pharyngeal dysphagia, Dystonia, Motor stereotypy, Self-injurious behavior ORPHA:208447
Isolated Complex I Deficiency
Hepatomegaly, Sensorineural hearing impairment, Proximal tubulopathy, Optic neuropathy, Hypertrop... ORPHA:2609
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Retinal degeneration ORPHA:542306
Autosomal Recessive Spastic Paraplegia Type 11
Retinal degeneration, Abnormality of pattern visual evoked potentials, Orthostatic hypotension ORPHA:2822
Ovarian Dysgenesis 9
Delayed puberty, Decreased cirrculating antimullerian hormone circulation, Hypoplasia of the ovar... OMIM:619665
Distal Deletion 12Q
Ectopic kidney, Biliary atresia, Hyperactivity, Microtia, Pituitary adenoma, Polycystic kidney dy... ORPHA:96149
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Gait imbalance, Tongue thrusting, Broad-based gait, Hyperactivity, Tremor, Recurrent hand flappin... ORPHA:98794
Pantothenate Kinase-Associated Neurodegeneration
Optic atrophy, Bull's eye maculopathy, Retinal degeneration, Retinal flecks, Rod-cone dystrophy, ... ORPHA:157850
Adrenocortical Carcinoma
Increased circulating androstenedione concentration, Elevated serum 11-deoxycortisol, Increased u... ORPHA:1501
Citrullinemia Type Ii
Hypertriglyceridemia, Hepatomegaly, Pancreatitis, Elevated circulating hepatic transaminase conce... ORPHA:247585
Apparent Mineralocorticoid Excess
Polydipsia, Decreased circulating renin level, Left ventricular hypertrophy, Failure to thrive, N... ORPHA:320
Kaposiform Lymphangiomatosis
Enlarged kidney, Anemia, Abnormal spleen morphology, Pericardial effusion, Thrombocytopenia, Sple... ORPHA:464329
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
Optic atrophy, Urinary incontinence, Neurogenic bladder, Cerebellar atrophy, Cerebral cortical at... ORPHA:496641
Arthrogryposis, Distal, Type 2A
Hearing impairment, Abnormal auditory evoked potentials OMIM:193700
Scheie Syndrome
Retinal degeneration OMIM:607016
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Retinal thinning, Recurrent otitis media, Abnormality of macular pigmentation, Retinal atrophy, C... OMIM:608940
Acute Adrenal Insufficiency
Anorexia, Delayed puberty, Normocytic anemia, Renal salt wasting, Orthostatic hypotension, Vertig... ORPHA:95409
Kniest Dysplasia
Retinal detachment, Vitreoretinopathy, Lattice retinal degeneration, Degenerative vitreoretinopat... ORPHA:485
Adult-Onset Autosomal Recessive Cerebellar Ataxia
Macular degeneration ORPHA:284289
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Hyperactivity, Low-set ears, Compulsive behaviors, Flexion contracture, Reduced social reciprocit... OMIM:309520
Histiocytosis-Lymphadenopathy Plus Syndrome
Flexion contracture of toe, Joint contracture of the 5th finger, Sensorineural hearing impairment... OMIM:602782
Tetraamelia Syndrome 1
Congenital diaphragmatic hernia, Absent external genitalia, Low-set ears, Hypoplasia of the fallo... OMIM:273395
Combined Oxidative Phosphorylation Deficiency 59
Retinal degeneration OMIM:620646
Mogs-Cdg
Optic atrophy, External genital hypoplasia, Hepatomegaly, Sensorineural hearing impairment, Inapp... ORPHA:79330
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia
Hepatomegaly, Impaired pain sensation, Decreased body weight, Decreased hemoglobin concentration,... OMIM:619005
Hypotonia, Ataxia, And Delayed Development Syndrome
Broad-based gait, Small earlobe, Truncal ataxia, Vesicoureteral reflux, Low-set ears, Cerebellar ... OMIM:617330
Premature Ovarian Failure 7
Gonadal dysgenesis, Clitoral hypertrophy, Elevated circulating follicle stimulating hormone level... OMIM:612964
Pitt-Hopkins Syndrome
Gait ataxia, Micropenis, Self-injurious behavior, Motor stereotypy, Thickened helices, Cryptorchi... OMIM:610954
Dpagt1-Cdg
Optic atrophy, Global brain atrophy, Hepatomegaly, Anemia, Elevated circulating hepatic transamin... ORPHA:86309
Bainbridge-Ropers Syndrome
Contracture of the proximal interphalangeal joint of the 4th finger, Inability to walk, Low-set e... OMIM:615485
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Cerebral atrophy, Ankle flexion contracture, Abnormal renal collecting system morphology, Severe ... ORPHA:468631
Sporadic Adult-Onset Ataxia Of Unknown Etiology
Abnormal vestibulo-ocular reflex, Macular degeneration, Abnormal cranial nerve morphology, Abnorm... ORPHA:247234
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Hyperactivity, Sensorineural hearing impairment, Impulsivity, Pulmonic stenosis, Aortic valve ste... ORPHA:353281
Ovarian Dysgenesis 5
Decreased serum estradiol, Hypoplasia of the uterus, Elevated circulating follicle stimulating ho... OMIM:617690
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
Recurrent otitis media, Renal tubular acidosis, Head-banging, Sensorineural hearing impairment, L... OMIM:619575
Cockayne Syndrome Type 1
Optic atrophy, Tremor, Absent brainstem auditory responses, Hearing impairment, Macrotia, Ataxia,... ORPHA:90321
African Trypanosomiasis
Urinary incontinence, Abnormality of the endocrine system, Abnormal growth hormone level, Pericar... ORPHA:3385
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Tip-toe gait, Inability to walk, Chorea, Pollakisuria, Brachial plexus neuropathy, Dysphagia, Rig... ORPHA:268
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities
Labial hypoplasia, Ventricular septal defect, Precocious puberty, Motor stereotypy, Attention def... OMIM:620073
Hurler Syndrome
Hearing impairment, Retinal degeneration, Recurrent otitis media OMIM:607014
Foxg1 Syndrome Due To 14Q12 Microdeletion
Protruding ear, Abnormal antihelix morphology, Motor stereotypy ORPHA:261144
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Retinal detachment, Macular atrophy, Chorioretinal coloboma, Retinal dystrophy OMIM:212550
Diethylstilbestrol Syndrome
Hypoplasia of the uterus, Hypospadias, Abnormal testis morphology, Vaginal neoplasm, Abnormality ... ORPHA:1916
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities
Optic atrophy, Hyperactivity, Sensorineural hearing impairment, Low-set ears, Compulsive behavior... OMIM:619512
Hijazi-Reis Syndrome
Gait disturbance, Motor stereotypy OMIM:301094
Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities
Hyperactivity, Failure to thrive, Secundum atrial septal defect, Motor stereotypy, Attention defi... OMIM:620242
Proteus Syndrome
Abnormal subcutaneous fat tissue distribution, Enlarged kidney, Ovarian neoplasm, Exostosis of th... ORPHA:744
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Hypertriglyceridemia, Jerky head movements, Global brain atrophy, Hypoparathyroidism, Congenital ... ORPHA:369837
Aceruloplasminemia
Macular degeneration, Retinal degeneration, Abnormality of retinal pigmentation ORPHA:48818
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Cholestatic liver disease, Hypertriglyceridemia, Prolonged neonatal jaundice, Splenomegaly, Hepat... OMIM:619418
Trisomy 10P
Low voltage EEG, EEG with focal spikes, Low-set ears, Abnormal auditory evoked potentials, Macrot... ORPHA:171929
Mitochondrial Dna Depletion Syndrome 20 (Mngie Type)
Macular degeneration OMIM:619780
Pyruvate Dehydrogenase E2 Deficiency
Retinal degeneration ORPHA:79244
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome
Hypoparathyroidism, Unilateral renal dysplasia, Hematuria, Aplasia of the vagina, Chronic kidney ... OMIM:146255
Glycogen Storage Disease Of Heart, Lethal Congenital
Biventricular hypertrophy, Neonatal hypoglycemia, Enlarged kidney, Cardiomyopathy, Ascites, Hyper... OMIM:261740
Pigmented Nodular Adrenocortical Disease, Primary, 1
Agitation, Increased serum testosterone level, Decreased circulating ACTH concentration, Pigmente... OMIM:610489
Houge-Janssens Syndrome 3
Muscular ventricular septal defect, Inguinal hernia, Motor stereotypy, Umbilical hernia, Attentio... OMIM:618354
Neurodegeneration With Brain Iron Accumulation 1
Optic atrophy, Obsessive-compulsive trait, Global brain atrophy, Akinesia, Urinary incontinence, ... OMIM:234200
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Urinary incontinence, Tremor, Compulsive behaviors, Gait ataxia, Failure to thrive, Motor stereot... ORPHA:476126
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Enlarged kidney, Transposition of the great arteries, Atrioventricular canal defect, Dextrocardia... OMIM:314390
Prader-Willi Syndrome Due To Translocation
Abnormal temper tantrums, Decreased response to growth hormone stimulation test, External genital... ORPHA:177907
Cockayne Syndrome Type 3
Retinal dystrophy, Retinal atrophy, Adult onset sensorineural hearing impairment, Retinal hemorrh... ORPHA:90324
Van Esch-O'Driscoll Syndrome
Cerebral atrophy, Pulmonary valve atresia, Microtia, Cerebellar atrophy, Impulsivity, Excessive s... OMIM:301030
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Pericardial lymphangiectasia, Ectopic kidney, Hyperactivity, Sensorineural hearing impairment, Ve... OMIM:235510
Simpson-Golabi-Behmel Syndrome, Type 1
Congenital diaphragmatic hernia, Enlarged kidney, Cardiomyopathy, Pulmonic stenosis, Splenomegaly... OMIM:312870
Pancreatic And Cerebellar Agenesis
Anemia, Optic nerve hypoplasia, Abnormal pinna morphology, Pancreatic hypoplasia, Low-set ears, P... OMIM:609069
Ovarian Dysgenesis 6
Absence of pubertal development, Hypoplasia of the uterus, Hypergonadotropic hypogonadism OMIM:618078
Cone-Rod Dystrophy 6
Bone spicule pigmentation of the retina, Chorioretinal atrophy, Cone/cone-rod dystrophy, Attenuat... OMIM:601777
Ovarian Dysgenesis 2
Delayed puberty, Streak ovary, Hypoplasia of the uterus, Hypergonadotropic hypogonadism OMIM:300510
Childhood Absence Epilepsy
Attention deficit hyperactivity disorder, Jerky head movements, Punding, EEG with spike-wave comp... ORPHA:64280
Cerebellar, Ocular, Craniofacial, And Genital Syndrome
Protruding ear, Retinal degeneration, Posteriorly rotated ears, Low-set ears OMIM:618479
Premature Ovarian Failure 18
Decreased cirrculating antimullerian hormone circulation, Hypoplasia of the ovary, Elevated circu... OMIM:619203
Argininemia
Anorexia, Spastic gait, Hepatomegaly, Portal fibrosis, Reduced erythrocyte arginase activity, Oro... OMIM:207800
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Optic atrophy, Retinal dysplasia, Retinal detachment, Optic nerve hypoplasia, Microtia, Retinal a... OMIM:236670
Mucolipidosis Iii Alpha/Beta
Retinopathy, Retinal degeneration OMIM:252600
Distal Duplication 17Q
Low-set, posteriorly rotated ears, Accessory spleen, Hyperactivity, Vesicoureteral reflux, Bilate... ORPHA:3379
Linear Skin Defects With Multiple Congenital Anomalies 1
Congenital diaphragmatic hernia, Clitoral hypertrophy, Hypoplasia of the uterus, Hypospadias, Ovo... OMIM:309801
Smith-Lemli-Opitz Syndrome
Cholestatic liver disease, Hyperactivity, Cerebellar atrophy, Bifid scrotum, Splenomegaly, Small ... OMIM:270400
Childhood Disintegrative Disorder
Urinary incontinence, Reduced social reciprocity, Motor stereotypy ORPHA:168782
Aicardi-Goutières Syndrome
Lipoatrophy, Difficulty walking, Elevated circulating hepatic transaminase concentration, Multipl... ORPHA:51
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Retinal thinning, Retinal atrophy, Cone/cone-rod dystrophy, Abnormality of retinal pigmentation, ... ORPHA:85167
Oculocerebrorenal Syndrome Of Lowe
Chronic otitis media, Delayed puberty, Abnormal circulating calcium-phosphate regulating hormone ... ORPHA:534
Norrie Disease
Optic atrophy, Delayed puberty, Uterine rupture, Sensorineural hearing impairment, Abnormal helix... ORPHA:649
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Optic atrophy, Macular coloboma, Abnormality of macular pigmentation, Low-set ears, Retinal degen... ORPHA:79282
Hyperlysinemia
Tip-toe gait, Hypoplastic helices, Argininuria, Hyperactivity, Tremor, Decreased urine alpha-keto... ORPHA:2203
Nephronophthisis 11
Retinal degeneration OMIM:613550
Joubert Syndrome 1
Hyperactivity, Low-set ears, Renal cyst, Ataxia, Optic disc coloboma, Hepatic fibrosis, Nephropat... OMIM:213300
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia
Decreased circulating follicle stimulating hormone concentration, Decreased circulating luteinizi... OMIM:614842
Trichothiodystrophy
Protruding ear, Macular degeneration, Retinal degeneration, Bilateral sensorineural hearing impai... ORPHA:33364
Premature Ovarian Failure 6
Streak ovary, Elevated circulating follicle stimulating hormone level, Elevated circulating lutei... OMIM:612310
Satoyoshi Syndrome
Hypoplasia of the ovary, Abnormality of the ovary, Nephrogenic diabetes insipidus, Abnormality of... ORPHA:3130
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome
EEG with spike-wave complexes, Chorea, EEG with focal sharp waves, Dystonia, EEG with series of f... ORPHA:522077
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome
Recurrent otitis media, Abnormal Eustachian tube morphology, Broad-based gait, Lower-limb joint c... ORPHA:513456
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Optic atrophy, Retinal dysplasia, Retinal atrophy, Hypoplasia of the retina, Retinal degeneration... OMIM:253280
Tuberous Sclerosis Complex
Cardiac rhabdomyoma, Hyperactivity, Pheochromocytoma, Impulsivity, Pituitary adenoma, Parathyroid... ORPHA:805
Premature Ovarian Failure 13
Hypoplasia of the uterus, Elevated circulating follicle stimulating hormone level OMIM:617442
Mend Syndrome
Hyperactivity, Abnormal auditory evoked potentials, Low-set ears, Aggressive behavior ORPHA:401973
Cockayne Syndrome A
Optic atrophy, Decreased nerve conduction velocity, Sensorineural hearing impairment, Abnormal pi... OMIM:216400
Wiedemann-Steiner Syndrome
Decreased response to growth hormone stimulation test, Hyperactivity, Dilatation of renal calices... ORPHA:319182
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Hyperactivity, Aggressive behavior ORPHA:85327
Histidinemia
Hyperactivity ORPHA:2157
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Decreased thyroid-stimulating hormone level, Sensorineural hearing impairment, Optic nerve hypopl... ORPHA:226307
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome
Hair-pulling, Hyperactivity, Hypsarrhythmia, Low-set ears, Dysphagia, Motor stereotypy, Protrudin... ORPHA:447997
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Hepatomegaly, Decreased proportion of CD8-positive T cells, Inability to walk, Elbow flexion cont... ORPHA:508533
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Perimembranous ventricular septal defect, Atrioventricular canal defect, Hypospadias, Optic nerve... ORPHA:508498
Werner Syndrome
Retinal degeneration OMIM:277700
Perlman Syndrome
Congenital diaphragmatic hernia, Large for gestational age, Nephroblastomatosis, Low-set ears, As... OMIM:267000
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Hypoparathyroidism, Unilateral renal agenesis, Polycystic kidney dysplasia, Aplasia of the uterus... ORPHA:2237
Cockayne Syndrome
Optic atrophy, Decreased nerve conduction velocity, Retinal dystrophy, Progressive sensorineural ... ORPHA:191
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Small scrotum, Hair-pulling, Nail-biting, Broad-based gait, Optic nerve hypoplasia, Polyphagia, F... OMIM:620330
Nmda Receptor Encephalitis
Orthostatic tachycardia, Agitation, Orthostatic hypotension, Testicular teratoma, Oculogyric cris... ORPHA:217253
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities
Broad-based gait, Hyperactivity, Hippocampal atrophy, Hiatus hernia, Low-set ears, Gait ataxia, C... OMIM:614756
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Hyperactivity, Sensorineural hearing impairment, Impulsivity, Pulmonic stenosis, Aortic valve ste... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Hyperactivity, Sensorineural hearing impairment, Impulsivity, Pulmonic stenosis, Aortic valve ste... ORPHA:353277
Peters Plus Syndrome
Ureteral duplication, Renal hypoplasia/aplasia, Pulmonic stenosis, Umbilical hernia, Abnormal car... ORPHA:709
Hereditary Sensory And Autonomic Neuropathy Type 4
Hyperactivity, Impulsivity, Dysphagia, Orthostatic hypotension due to autonomic dysfunction, Diff... ORPHA:642
Ocular Motor Apraxia
Jerky head movements OMIM:257550
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Urinary incontinence, Small earlobe, Microtia, Dysphagia, Hypospadias, Pelvic kidney, Exaggerated... OMIM:619522
Maternal Uniparental Disomy Of Chromosome 2
Retinal degeneration ORPHA:96179
Pseudoxanthoma Elasticum, Forme Fruste
Macular degeneration, Angioid streaks of the fundus, Retinal hemorrhage OMIM:177850
Primrose Syndrome
Delayed puberty, Ataxia, Aggressive behavior, Superiorly displaced ears, Hearing impairment, Rest... OMIM:259050
Blepharophimosis, Ptosis, And Epicanthus Inversus
Increased circulating gonadotropin level, Hypoplasia of the uterus, Cupped ear OMIM:110100
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type
Optic atrophy, Cerebral atrophy, Hypospadias, Hyperactivity, Low-set ears, Camptodactyly, Hearing... OMIM:309590
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1
Large for gestational age, Inguinal hernia, Duplicated collecting system, Hyperactivity, Low-set ... OMIM:607721
Cockayne Syndrome B
Optic atrophy, Decreased nerve conduction velocity, Sensorineural hearing impairment, Abnormal pi... OMIM:133540
Coffin-Siris Syndrome
Atrial septal defect, Hypospadias, Hyperactivity, Ventricular septal defect, Papillary thyroid ca... ORPHA:1465
Mayer-Rokitansky-Kuster-Hauser Syndrome
Abnormal female external genitalia morphology, Aplasia of the upper vagina, Multicystic kidney dy... OMIM:277000
Early Infantile Epileptic Encephalopathy
Hyperactivity, Tremor, Cerebellar atrophy, Episodic ataxia, Ventricular septal defect, Precocious... ORPHA:1934
Peters-Plus Syndrome
Bilobate gallbladder, Ureteral duplication, Pulmonic stenosis, Biliary tract abnormality, Umbilic... OMIM:261540
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Agitation, Hyperactivity, Activating thyroid-stimulating hormone receptor defect, Thyrotoxicosis ... ORPHA:424
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Enlarged kidney, Polycystic kidney dysplasia, Renal dysplasia, Ambiguous genitalia, Micropenis OMIM:613091
Liver Disease, Severe Congenital
Left atrial enlargement, Elevated circulating hepatic transaminase concentration, Lymphocytosis, ... OMIM:619991
Senior-Loken Syndrome 8
Rod-cone dystrophy, Macular atrophy, Retinal dystrophy OMIM:616307
Cancer-Associated Retinopathy
Optic atrophy, Granular macular appearance, Retinal atrophy, Optic disc pallor, Retinal pigment e... ORPHA:71505
Premature Ovarian Failure 3
Hypoplasia of the uterus OMIM:608996
46,Xy Sex Reversal 5
Abnormal circulating luteinizing hormone concentration, Abnormal female external genitalia morpho... OMIM:613080
Kinsship Syndrome
Brain atrophy, Low-set ears, Renal hypoplasia, Failure to thrive, Motor stereotypy, Bruxism, Hors... OMIM:619297
Multicystic Dysplastic Kidney
Enlarged kidney, Unilateral renal agenesis, Ureterovesical junction obstruction, Vesicoureteral r... ORPHA:1851
Arboleda-Tham Syndrome
Chronic otitis media, Small earlobe, Underdeveloped tragus, Pulmonic stenosis, Dysphagia, Promine... OMIM:616268
Alport Syndrome
Macular degeneration, Retinal flecks, Sensorineural hearing impairment ORPHA:63
Coffin-Siris Syndrome 12
Protruding ear, Elevated circulating hepatic transaminase concentration, Hypospadias, Horseshoe k... OMIM:619325
Monosomy 22Q13.3
Cerebellar cortical atrophy, Hair-pulling, Hyperactivity, Impaired pain sensation, Vesicoureteral... ORPHA:48652
46,Xx Sex Reversal 2
Hypoplasia of the uterus, Ovotestis, Azoospermia, Bifid scrotum, Decreased serum testosterone con... OMIM:278850
Paternal Uniparental Disomy Of Chromosome 6
Hepatomegaly, Abnormal earlobe morphology, Ventricular septal defect, Precocious puberty, Umbilic... ORPHA:96191
Wolf-Hirschhorn Syndrome
Hypospadias, Accessory spleen, Stenosis of the external auditory canal, Abnormal pinna morphology... OMIM:194190
Testicular Agenesis
Hypoplasia of the uterus, Abnormal vas deferens morphology, Urogenital sinus anomaly, Decreased s... ORPHA:325124
Satoyoshi Syndrome
Hypoplasia of the uterus OMIM:600705
Hyperthyroidism, Nonautoimmune
Increased circulating T4 concentration, Increased circulating free T3, Decreased thyroid-stimulat... OMIM:609152
Mowat-Wilson Syndrome
Urinary incontinence, Sensorineural hearing impairment, Bifid scrotum, Pulmonic stenosis, Aortic ... ORPHA:2152
Familial Gestational Hyperthyroidism
Agitation, Hyperactivity, Activating thyroid-stimulating hormone receptor defect, Thyrotoxicosis ... ORPHA:99819
Osteopetrosis With Renal Tubular Acidosis
Optic atrophy, Retinal atrophy, Cranial nerve compression, Macrotia, Conductive hearing impairmen... ORPHA:2785
Intellectual Disability-Autism-Speech Apraxia-Craniofacial Dysmorphism Syndrome
Motor stereotypy ORPHA:529965
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Lacrimal gland aplasia, Decreased circulating progesterone, Low-set ears, Lacrimal gland hypoplas... ORPHA:572333
Developmental And Epileptic Encephalopathy 100
Cerebral atrophy, Brain atrophy, Chorea, Elbow flexion contracture, Bilateral camptodactyly, Gait... OMIM:619777
Say-Barber-Miller Syndrome
Optic atrophy, Low-set, posteriorly rotated ears, Macular degeneration, Macrotia, Protruding ear,... ORPHA:3132
Developmental And Epileptic Encephalopathy 2
Hypsarrhythmia, EEG with generalized slow activity, Motor stereotypy OMIM:300672
Knobloch Syndrome
Retinal detachment, Macular degeneration, Vitreoretinopathy, Abnormal vitreous humor morphology ORPHA:1571
Tetrasomy 9P
Abnormal earlobe morphology, Biliary atresia, Hyperactivity, Abnormal mitral valve morphology, Pe... ORPHA:3310
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Urinary incontinence, Sensorineural hearing impairment, Bifid scrotum, Pulmonic stenosis, Aortic ... ORPHA:261537
Pilarowski-Bjornsson Syndrome
Motor stereotypy OMIM:617682
Acromesomelic Dysplasia 3
Hypoplasia of the uterus, Elevated circulating follicle stimulating hormone level, Elevated circu... OMIM:609441
Bohring-Opitz Syndrome
Optic atrophy, Retinal atrophy, Low-set, posteriorly rotated ears ORPHA:97297
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome
Ventricular septal defect, Precocious puberty, Unsteady gait, Loss of ambulation, Motor stereotyp... OMIM:616682
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Retinal degeneration OMIM:208500
Spinocerebellar Ataxia Type 7
Cone/cone-rod dystrophy, Macular degeneration, Abnormal fundus morphology ORPHA:94147
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Urinary incontinence, Sensorineural hearing impairment, Bifid scrotum, Pulmonic stenosis, Aortic ... ORPHA:261552
Lowe Oculocerebrorenal Syndrome
Low-molecular-weight proteinuria, Joint contracture of the hand, Bicarbonaturia, Renal insufficie... OMIM:309000
Farber Disease
Macular degeneration, Cherry red spot of the macula ORPHA:333
Hydatidiform Mole
Anemia, Hyperthyroidism, Enlarged uterus ORPHA:99927
Sandifer Syndrome
Abnormal head movements, Anemia, Torticollis, Hiatus hernia ORPHA:71272
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Bicuspid aortic valve, Perimembranous ventricular septal defect, Transposition of the great arter... OMIM:612474
46,Xy Sex Reversal 7
Streak ovary, Abnormal epididymis morphology, Gonadoblastoma, Hypoplasia of the fallopian tube, G... OMIM:233420
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1
Optic atrophy, Hypospadias, Hyperactivity, Sensorineural hearing impairment, Microtia, Vesicouret... OMIM:309580
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Retinal dystrophy, Macular degeneration, Low-set ears, Attenuation of retinal blood vessels, Post... OMIM:266920
Vici Syndrome
Sensorineural hearing impairment, Low-set ears, Hypopigmentation of the fundus, Macular atrophy, ... OMIM:242840
Gaucher Disease, Type I
Macular atrophy OMIM:230800
Stickler Syndrome
Chronic otitis media, Abnormal vitreous humor morphology, Retinal detachment, Sensorineural heari... ORPHA:828
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects
Congenital diaphragmatic hernia, Camptodactyly, Contracture of the proximal interphalangeal joint... OMIM:301044
Popliteal Pterygium Syndrome
Bifid scrotum, Hypoplasia of the vagina, Small scrotum, Cryptorchidism, Hypoplasia of the uterus,... OMIM:119500
Atypical Werner Syndrome
Retinal degeneration, Abnormality of retinal pigmentation ORPHA:79474
Usher Syndrome Type 2
Sensorineural hearing impairment, Abnormality of the inner ear ORPHA:231178
Alström Syndrome
Drusen, Retinal dystrophy, Progressive sensorineural hearing impairment, Abnormal vestibular func... ORPHA:64

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Whrn

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Whrn.

There are 5 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis. Nature communications (August 2019) Whrntm1a(EUCOMM)Wtsi Whrnwi Whrnwi PMC6671969
Mouse screen reveals multiple new genes underlying mouse and human hearing loss. PLoS biology (April 2019) Whrntm1a(EUCOMM)Wtsi Whrnwi PMC6459510
Alternative Splice Forms Influence Functions of Whirlin in Mechanosensory Hair Cell Stereocilia. Cell reports (April 2016) Whrntm1a(EUCOMM)Wtsi Whrntm1b(EUCOMM)Wtsi PMC4859837
A study of whirlin isoforms in the mouse vestibular system suggests potential vestibular dysfunction in DFNB31-deficient patients. Human molecular genetics (September 2015) Whrntm1a(EUCOMM)Wtsi PMC4654056
Distinct expression and function of whirlin isoforms in the inner ear and retina: an insight into pathogenesis of USH2D and DFNB31. Human molecular genetics (August 2015) Whrntm1a(EUCOMM)Wtsi PMC4599678

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Whrntm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Whrntm3a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Whrntm20(L1L2_Pgk_PM) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Whrntm2a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Whrntm3e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Whrntm20(L1L2_gt0) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Whrntm2e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Whrnwi Reporter-tagged deletion allele (with selection cassette) ES Cells
Whrntm20(pL1L2_PAT_B0) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Whrntm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells

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