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Gene: Ap1g1 MGI:101919

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Gene Summary

Name:
adaptor protein complex AP-1, gamma 1 subunit
Synonyms:
D8Ertd374e,  gamma-adaptin,  Adtg

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
hyperactivity Ap1g1tm1b(EUCOMM)Hmgu HET Early adult 1.42×10-07
embryonic lethality prior to organogenesis Ap1g1tm1b(EUCOMM)Hmgu HOM   E9.5 0.00
increased vertical activity Ap1g1tm1b(EUCOMM)Hmgu HET Early adult 1.42×10-06
decreased lean body mass Ap1g1tm1b(EUCOMM)Hmgu HET Early adult 1.36×10-09
preweaning lethality, complete penetrance Ap1g1tm1b(EUCOMM)Hmgu HOM   Early adult 0.00
abnormal retina morphology Ap1g1tm1b(EUCOMM)Hmgu HET Early adult 2.83×10-07
increased total body fat amount Ap1g1tm1b(EUCOMM)Hmgu HET Early adult 1.07×10-12
decreased bone mineral content Ap1g1tm1b(EUCOMM)Hmgu HET Early adult 7.29×10-12
cataract Ap1g1tm1b(EUCOMM)Hmgu HET Early adult 2.94×10-06

Download data as:  TSV  XLS

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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  Section images heterozygote 100% (2 of 2)
Aorta  Section images heterozygote 100% (2 of 2)
Brain  Section images heterozygote 50% (1 of 2)
Brainstem  Section images heterozygote 50% (1 of 2)
Cartilage tissue  Section images heterozygote 50% (1 of 2)
Cerebellum  Section images heterozygote 50% (1 of 2)
Cerebral cortex  Section images heterozygote 50% (1 of 2)
Epididymis  Section images heterozygote 50% (1 of 2)
Esophagus  Section images heterozygote 100% (2 of 2)
Eye  Section images heterozygote 100% (2 of 2)
Heart  Section images heterozygote 100% (2 of 2)
Hippocampus  Section images heterozygote 50% (1 of 2)
Hypothalamus  Section images heterozygote 50% (1 of 2)
Kidney  Section images heterozygote 100% (2 of 2)
Large intestine  Section images heterozygote 100% (2 of 2)
Lung  Section images heterozygote 100% (2 of 2)
Midbrain  Section images heterozygote 50% (1 of 2)
Olfactory lobe  Section images heterozygote 100% (2 of 2)
Ovary  Section images heterozygote Not available
Oviduct  Section images heterozygote 50% (1 of 2)
Pancreas  Section images heterozygote 50% (1 of 2)
Peripheral nervous system  Section images heterozygote 50% (1 of 2)
Pituitary gland  Section images heterozygote 50% (1 of 2)
Skin  Section images heterozygote 100% (2 of 2)
Small intestine  Section images heterozygote 100% (2 of 2)
Spinal cord  Section images heterozygote 50% (1 of 2)
Spleen  Section images heterozygote 50% (1 of 2)
Stomach  Section images heterozygote 100% (2 of 2)
Striatum  Section images heterozygote 50% (1 of 2)
Submandibular gland  Section images heterozygote 50% (1 of 2)
Testis  Section images heterozygote 50% (1 of 2)
Thalamus  Section images heterozygote 0.0% (0 of 2)
Thymus  Section images heterozygote 100% (2 of 2)
Trachea  Section images heterozygote 50% (1 of 2)
Urinary bladder  Section images heterozygote 100% (2 of 2)
Uterus  Section images heterozygote 50% (1 of 2)
Vascular system  Section images heterozygote 100% (2 of 2)
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote Not available
Lymph node N/A heterozygote 0.0% (0 of 2)
Mammary gland N/A heterozygote 0.0% (0 of 2)
Peyer's patch N/A heterozygote 0.0% (0 of 2)
Prostate gland N/A heterozygote Not available
Skeletal muscle N/A heterozygote 0.0% (0 of 2)
Thyroid gland N/A heterozygote 0.0% (0 of 2)
Vesicular gland N/A heterozygote Not available
White adipose tissue N/A heterozygote 0.0% (0 of 2)

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

Anatomy Images Zygosity Mutant Expr
Embryo N/A heterozygote 100% (2 of 2)
Brain N/A heterozygote 0.0% (0 of 2)
Dorsal root ganglion N/A heterozygote 0.0% (0 of 2)
Ear N/A heterozygote 0.0% (0 of 2)
Eye N/A heterozygote 0.0% (0 of 2)
Footplate N/A heterozygote 0.0% (0 of 2)
Forebrain N/A heterozygote 0.0% (0 of 2)
Forelimb N/A heterozygote 0.0% (0 of 2)
Fronto-nasal process N/A heterozygote 0.0% (0 of 2)
Handplate N/A heterozygote 0.0% (0 of 2)
Head N/A heterozygote 100% (2 of 2)
Heart N/A heterozygote 100% (2 of 2)
Hindbrain N/A heterozygote 0.0% (0 of 2)
Hindlimb N/A heterozygote 0.0% (0 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lung N/A heterozygote 0.0% (0 of 2)
Mandibular process N/A heterozygote 0.0% (0 of 2)
Maxillary process N/A heterozygote 0.0% (0 of 2)
Midbrain N/A heterozygote 0.0% (0 of 2)
Nose N/A heterozygote 0.0% (0 of 2)
Oral cavity N/A heterozygote 0.0% (0 of 2)
Skin N/A heterozygote 0.0% (0 of 2)
Spinal cord N/A heterozygote 0.0% (0 of 2)
Tail somite N/A heterozygote 0.0% (0 of 2)
Tail N/A heterozygote 100% (2 of 2)

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

Anatomy Background staining in controls (WT)
adrenal gland 0.68% (4 of 585)
aorta 0.17% (1 of 585)
brain 0.68% (4 of 585)
brainstem 0.34% (2 of 585)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 585)
cerebellum 0.51% (3 of 585)
cerebral cortex 0.34% (2 of 585)
epididymis 13.43% (18 of 134)
esophagus 1.71% (7 of 409)
eye 0.0%
heart 0.34% (2 of 585)
hippocampus 0.51% (3 of 585)
hypothalamus 0.34% (2 of 585)
kidney 3.59% (21 of 585)
large intestine 1.71% (10 of 585)
liver 0.0%
lower urinary tract 0.17% (1 of 585)
lung 0.34% (2 of 585)
lymph node 0.17% (1 of 585)
mammary gland 0.0%
midbrain 0.0%
olfactory lobe 0.34% (2 of 585)
ovary 0.17% (1 of 585)
oviduct 0.0%
pancreas 0.85% (5 of 585)
peripheral nervous system 0.34% (2 of 585)
peyers patch 0.0%
pituitary gland 0.17% (1 of 585)
prostate gland 2.05% (12 of 585)
skeletal muscle 0.0%
skin 0.17% (1 of 585)
small intestine 1.54% (9 of 585)
spinal cord 0.51% (3 of 585)
spleen 0.51% (3 of 585)
stomach 2.22% (13 of 585)
striatum 0.51% (3 of 585)
submandibular gland 1.52% (2 of 132)
testis 1.03% (6 of 585)
thalamus 0.0%
thymus 0.17% (1 of 585)
thyroid gland 2.91% (17 of 585)
trachea 0.51% (3 of 585)
urinary bladder 0.0%
uterus 0.0%
vascular system 0.0%
vesicular gland 0.0%
white adipose tissue 0.0%

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

Background staining occurs in wild type embryos at a measurable rate.

Anatomy Background staining in controls(WT)
brain 1.18% (6 of 508)
dorsal root ganglion 1.67% (1 of 60)
ear 0.2% (1 of 508)
embryo 0.2% (1 of 509)
eye 0.2% (1 of 508)
footplate 0.2% (1 of 508)
forebrain 0.2% (1 of 508)
forelimb 0.2% (1 of 508)
fronto-nasal process 1.64% (1 of 61)
handplate 0.2% (1 of 508)
head 0.98% (5 of 508)
heart 0.2% (1 of 508)
hindbrain 1.18% (6 of 508)
hindlimb 0.2% (1 of 508)
liver 0.2% (1 of 503)
lung 0.2% (1 of 503)
mandibular process 0.2% (1 of 508)
maxillary process 0.2% (1 of 508)
midbrain 0.2% (1 of 508)
nose 1.28% (1 of 78)
oral cavity 0.2% (1 of 503)
skin 0.2% (1 of 508)
spinal cord 1.39% (1 of 72)
tail 0.2% (1 of 508)
tail somite group 0.2% (1 of 508)

Associated Images

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

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

View images
X-ray

XRay Images Forepaw

8 Images

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Adult LacZ

LacZ Images Section

40 Images

View images
X-ray

XRay Images Whole Body Lateral Orientation

9 Images

View images
X-ray

XRay Images Skull Lateral Orientation

9 Images

View images
X-ray

XRay Images Whole Body Dorso Ventral

9 Images

View images
Embryo LacZ

LacZ images wholemount

8 Images

View images
PDF thumbnail PDF
Auditory Brain Stem Response

Click-evoked + 6 to 30kHz tone waveforms (pdf format)

6 Images

View images

Human diseases caused by Ap1g1 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 Ap1g1 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Autosomal Recessive Non-Syndromic Intellectual Disability
Dystonia, EEG with focal epileptiform discharges, Chorea, EEG with generalized epileptiform disch... ORPHA:88616
Usmani-Riazuddin Syndrome, Autosomal Dominant
Hyperactivity OMIM:619467
Usmani-Riazuddin Syndrome, Autosomal Recessive
Low-set ears, Posteriorly rotated ears, Spasticity OMIM:619548

The table below shows human diseases predicted to be associated to Ap1g1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Chorea, Childhood-Onset, With Psychomotor Retardation
Involuntary movements, Chorea, Abnormal head movements OMIM:616939
Asperger Syndrome, X-Linked, Susceptibility To, 2
Stereotypy OMIM:300497
Asperger Syndrome, X-Linked, Susceptibility To, 1
Stereotypy OMIM:300494
Asperger Syndrome, Susceptibility To, 1
Stereotypy OMIM:608638
Asperger Syndrome, Susceptibility To, 2
Stereotypy OMIM:608631
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities
Stereotypy OMIM:617787
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Mental Retardation, Autosomal Dominant 33
Hyperactivity, Decreased body weight, Chorioretinal degeneration OMIM:616311
Intellectual Developmental Disorder With Autism And Speech Delay
Stereotypy OMIM:606053
Autism
Stereotypy OMIM:209850
Autism, Susceptibility To, X-Linked 3
Stereotypy OMIM:300496
Autism, Susceptibility To, 8
Stereotypy OMIM:607373
Autism, Susceptibility To, X-Linked 1
Stereotypy OMIM:300425
Chromosome 15Q11-Q13 Duplication Syndrome
Stereotypy OMIM:608636
Mental Retardation, Autosomal Dominant 45
Hyperactivity, Attention deficit hyperactivity disorder OMIM:617600
Spermatogenic Failure 51
Oligospermia, Absent sperm axoneme central pair complex, Reduced sperm motility, Coiled sperm fla... OMIM:619177
Spermatogenic Failure 56
Oligospermia, Reduced sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Male ... OMIM:619515
Hydrocephaly-Cerebellar Agenesis Syndrome
Ataxia, Cataract ORPHA:1397
Primary Dystonia, Dyt13 Type
Postural tremor, Involuntary movements, Jerky head movements, Torticollis, Stereotypy, Action tremor ORPHA:98807
Spinocerebellar Ataxia, Autosomal Recessive 12
Optic atrophy, Babinski sign, Cerebellar atrophy, Retinal degeneration, Ataxia, Spasticity, Limb ... OMIM:614322
Intellectual Developmental Disorder, X-Linked 72
Stereotypy OMIM:300271
Spermatogenic Failure 54
Oligospermia, Cryptozoospermia, Reduced sperm motility, Abnormal sperm axoneme morphology, Coiled... OMIM:619379
Episodic Kinesigenic Dyskinesia 2
Involuntary movements, Paroxysmal dyskinesia, Chorea OMIM:611031
Phosphoserine Phosphatase Deficiency
Postnatal growth retardation, Intrauterine growth retardation OMIM:614023
Spermatogenic Failure, X-Linked, 3
Oligospermia, Reduced sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Male ... OMIM:301059
Bardet-Biedl Syndrome 16
Retinal degeneration, Recurrent otitis media, External genital hypoplasia, Rod-cone dystrophy, He... OMIM:615993
Morm Syndrome
Retinal dystrophy, Truncal obesity, Hyperactivity, Cataract, Retinal atrophy ORPHA:75858
Tremor, Hereditary Essential, 1
Postural tremor, Hand tremor, Action tremor OMIM:190300
Spermatogenic Failure 39
Oligospermia, Reduced sperm motility, Coiled sperm flagella, Tapered sperm head, Male infertility... OMIM:618643
Tremor, Hereditary Essential, 5
Postural tremor, Tongue tremor, Kinetic tremor, Intention tremor OMIM:616736
Tremor, Hereditary Essential, 6
Postural tremor, Head tremor, Kinetic tremor, Vocal tremor OMIM:618866
Intellectual Developmental Disorder, Autosomal Recessive 54
Hyperactivity OMIM:617028
Schizophrenia 15
Hyperactivity OMIM:613950
Autosomal Recessive Spastic Paraplegia Type 46
Abnormal sperm morphology, Hearing impairment, Corpus callosum atrophy, Abnormal sperm head morph... ORPHA:320391
Spermatogenic Failure 58
Oligospermia, Immotile sperm, Irregularly shaped sperm tail, Reduced progressive sperm motility, ... OMIM:619585
Intellectual Developmental Disorder, Autosomal Recessive 58
Stereotypy, Spastic diplegia, Choreoathetosis OMIM:617270
Spermatogenic Failure 40
Oligospermia, Immotile sperm, Coiled sperm flagella, Male infertility, Short sperm flagella, Abse... OMIM:618664
Mental Retardation, Autosomal Recessive 3
Hyperactivity OMIM:608443
Ceroid Lipofuscinosis, Neuronal, 2
Increased extraneuronal autofluorescent lipopigment, Retinal degeneration, Increased neuronal aut... OMIM:204500
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Cataract 20, Multiple Types
Cataract, Membranous cataract OMIM:116100
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Partial Chromosome Y Deletion
Oligospermia, Abnormal spermatogenesis, Male infertility, Non-obstructive azoospermia, Cryptorchi... ORPHA:1646
Spermatogenic Failure 47
Oligospermia, Immotile sperm, Male infertility, Short sperm flagella, Absent sperm flagella OMIM:619102
Oliver-Mcfarlane Syndrome
Retinal degeneration, Small for gestational age, Hypogonadotropic hypogonadism, Central heterochr... OMIM:275400
Pendred Syndrome
Cochlear malformation, Thyroid carcinoma, Goiter, Congenital sensorineural hearing impairment, Co... OMIM:274600
Tremor, Hereditary Essential, 4
Postural tremor, Action tremor OMIM:614782
Smith-Magenis syndrome
Stereotypy DECIPHER:8
Spermatogenic Failure 41
Oligospermia, Immotile sperm, Tapered sperm head, Male infertility, Short sperm flagella OMIM:618670
Male Infertility Due To Acephalic Spermatozoa
Oligospermia, Abnormal sperm mid-piece morphology, Reduced sperm motility, Acephalic spermatozoa,... ORPHA:529970
Deafness-Infertility Syndrome
Abnormal spermatogenesis, Male infertility, Bilateral sensorineural hearing impairment, Reduced s... OMIM:611102
Spermatogenic Failure 46
Reduced sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Male infertility, S... OMIM:619095
Spinocerebellar Ataxia, Autosomal Recessive 24
Spastic gait, Gait ataxia, Limb ataxia, Cataract OMIM:617133
Immunodeficiency 8
Hyperactivity OMIM:615401
Ceroid Lipofuscinosis, Neuronal, 1
Optic atrophy, Retinal degeneration, Increased neuronal autofluorescent lipopigment, Myoclonus, M... OMIM:256730
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities
Cataract, Rod-cone dystrophy OMIM:300719
Pendred Syndrome
Thyroid carcinoma, Hypoplasia of the cochlea, Goiter, Enlarged vestibular aqueduct, Vertigo, Sens... ORPHA:705
Spermatogenic Failure 11
Oligospermia, Male infertility, Abnormal sperm morphology, Reduced sperm motility OMIM:615081
Spermatogenic Failure 7
Oligospermia, Male infertility, Immotile sperm, Reduced sperm motility OMIM:612997
Hyperleucine-Isoleucinemia
Sensorineural hearing impairment, Retinal degeneration, Failure to thrive OMIM:238340
Autosomal Dominant Spastic Ataxia Type 1
Impaired proprioception, Babinski sign, Dystonia, Jerky head movements, Spastic gait, Spastic dys... ORPHA:251282
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness
Chorioretinal coloboma, Cataract OMIM:274205
Mental Retardation, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome
Retinal dystrophy, Childhood-onset truncal obesity, Cataract, Truncal obesity OMIM:610156
Ceroid Lipofuscinosis, Neuronal, 5
Clumsiness, Cerebellar atrophy, Retinal degeneration, Increased neuronal autofluorescent lipopigm... OMIM:256731
Spermatogenic Failure 43
Absent sperm axoneme central pair complex, Reduced sperm motility, Coiled sperm flagella, Male in... OMIM:618751
Spermatogenic Failure 49
Reduced sperm motility, Coiled sperm flagella, Male infertility, Short sperm flagella, Absent spe... OMIM:619144
Spermatogenic Failure 45
Reduced sperm motility, Coiled sperm flagella, Male infertility, Short sperm flagella, Absent spe... OMIM:619094
Chorea, Benign Familial
Chorea OMIM:215450
Retinitis Pigmentosa Inversa With Deafness
Sensorineural hearing impairment, Retinitis pigmentosa inversa, External genital hypoplasia, Rod-... OMIM:268010
Spermatogenic Failure 42
Reduced sperm motility, Coiled sperm flagella, Tapered sperm head, Male infertility, Short sperm ... OMIM:618745
Birdshot Chorioretinopathy
Photoreceptor layer loss on macular OCT, Optic disc pallor, Vitreous floaters, Choroidal neovascu... ORPHA:179
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Tremor, Ataxia, Stereotypy OMIM:617862
Ravine Syndrome
Abnormal auditory evoked potentials, Failure to thrive, Atrophy/Degeneration affecting the brains... ORPHA:99852
Bardet-Biedl Syndrome 18
Retinal dystrophy, Obesity, Cataract, Rod-cone dystrophy OMIM:615995
Developmental And Epileptic Encephalopathy 97
Tremor, Stereotypical hand wringing OMIM:619561
Ocular Motor Apraxia
Oculomotor apraxia, Jerky head movements OMIM:257550
X-Linked Retinoschisis
Retinoschisis, Cataract ORPHA:792
Developmental And Epileptic Encephalopathy 58
Optic atrophy, Hypsarrhythmia, Stereotypy, Spastic diplegia, Inability to walk OMIM:617830
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency
Impaired proprioception, Hearing impairment, Corpus callosum atrophy, Type I diabetes mellitus, P... ORPHA:412057
Morbid Obesity And Spermatogenic Failure
Oligospermia, Hypertension, Infertility, Type II diabetes mellitus, Azoospermia, Myocardial infar... OMIM:615703
Spastic Ataxia 2, Autosomal Recessive
Babinski sign, Head titubation, Frequent falls, Dysmetria, Fasciculations, Spastic ataxia, Tremor... OMIM:611302
Wagner Vitreoretinopathy
Optic atrophy, Vitreoretinopathy, Exudative vitreoretinopathy, Optically empty vitreous, Retinal ... OMIM:143200
N-Acetylaspartate Deficiency
Truncal ataxia, Stereotypy OMIM:614063
Liberfarb Syndrome
Optic disc pallor, Retinal degeneration, Bone spicule pigmentation of the retina, Retinal pigment... OMIM:618889
Spermatogenic Failure 48
Oligospermia, Male infertility, Spermatogenesis maturation arrest, Azoospermia OMIM:619108
Fetal Iodine Deficiency Disorder
Spastic diplegia, Congenital hypothyroidism, Congenital goiter, Hearing impairment OMIM:228355
Thyrocerebroretinal Syndrome
Goiter, Myoclonus, Sensorineural hearing impairment, Ataxia, Slurred speech OMIM:274240
Thyroid Hormone Resistance, Generalized, Autosomal Recessive
Impaired sensitivity to thyroid hormone, Small for gestational age, Goiter, Hearing impairment OMIM:274300
Insulin-Like Growth Factor I Deficiency
Hyperactivity, Decreased body weight, Osteopenia OMIM:608747
Dysequilibrium Syndrome
Gait disturbance, Ataxia, Cataract ORPHA:1766
Spermatogenic Failure 1
Oligospermia, Male infertility, Cryptozoospermia OMIM:258150
Thyrocerebrorenal Syndrome
Myoclonus, Sensorineural hearing impairment, Euthyroid goiter, Slurred speech, Nonprogressive cer... ORPHA:3327
Foveal Hypoplasia-Presenile Cataract Syndrome
Optic atrophy, Cataract ORPHA:2253
Hereditary Hyperferritinemia-Cataract Syndrome
Cataract ORPHA:163
Cataract 35
Cataract OMIM:609376
Cataract 36
Cataract OMIM:613887
Cataract 29
Cataract OMIM:115800
Cataract 18
Cataract OMIM:610019
Hsd10 Mitochondrial Disease
Hypertrophic cardiomyopathy, Optic atrophy, Retinal degeneration, Choreoathetosis, Spastic tetrap... OMIM:300438
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity, Large for gestational age ORPHA:356996
Autosomal Dominant Cerebellar Ataxia
Impaired proprioception, Torticollis, Fasciculations, Paraparesis, Akinesia, Tongue fasciculation... ORPHA:99
Pituitary Hormone Deficiency, Combined Or Isolated, 7
Postnatal growth retardation, Truncal obesity, Short stature, Abdominal obesity OMIM:618160
Huntington Disease-Like 1
Clumsiness, Involuntary movements, Gait disturbance, Cerebellar atrophy, Jerky head movements, Fr... ORPHA:157941
Retinal Dystrophy With Or Without Extraocular Anomalies
Secondary amenorrhea, Goiter, Retinal dystrophy, Premature ovarian insufficiency OMIM:617175
Brain-Lung-Thyroid Syndrome
Clumsiness, Hypospadias, Elevated circulating thyroid-stimulating hormone concentration, Incoordi... ORPHA:209905
Spastic Paraplegia 11, Autosomal Recessive
Babinski sign, Degeneration of the lateral corticospinal tracts, Knee clonus, Retinal degeneratio... OMIM:604360
Cataract And Congenital Ichthyosis
Cataract OMIM:212400
Spondylometaphyseal Dysplasia, Axial
Optic atrophy, Retinal degeneration, Rod-cone dystrophy, Reduced sperm motility OMIM:602271
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Abnormal sperm morphology, Infertility, Hearing impairment OMIM:608653
Spermatogenic Failure 24
Reduced sperm motility, Coiled sperm flagella, Tapered sperm head, Short sperm flagella, Microcep... OMIM:617959
Leber Congenital Amaurosis 19
Optic disc pallor, Retinal degeneration, Attenuation of retinal blood vessels OMIM:618513
Developmental And Epileptic Encephalopathy 28
Optic atrophy, Retinal degeneration, Rigidity, Spasticity, Cerebral atrophy OMIM:616211
Spermatogenic Failure 25
Azoospermia, Decreased testicular size, Cryptozoospermia OMIM:617960
Mental Retardation, Autosomal Dominant 52
Hyperactivity OMIM:617796
Retinitis Pigmentosa 36
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Macular degenerat... OMIM:610599
Ceroid Lipofuscinosis, Neuronal, 6A
Increased neuronal autofluorescent lipopigment, Retinal degeneration, Abnormal nervous system ele... OMIM:601780
Spermatogenic Failure 8
Oligospermia, Azoospermia, Cryptozoospermia OMIM:613957
Developmental And Epileptic Encephalopathy 43
Hyperactivity, Ataxia OMIM:617113
Bardet-Biedl Syndrome 4
Retinal degeneration, External genital hypoplasia, Rod-cone dystrophy, Hypogonadism, Obesity, Cry... OMIM:615982
Benign Paroxysmal Torticollis Of Infancy
Torticollis, Ataxia, Abnormal head movements ORPHA:71518
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Ataxia, Stereotypy OMIM:618709
Retinitis Pigmentosa 84
Macular coloboma, Macular atrophy, Cataract, Rod-cone dystrophy OMIM:618220
Mucolipidosis Iv
Dystonia, Optic atrophy, Babinski sign, Retinal degeneration, Cerebellar atrophy, Spastic tetrapl... OMIM:252650
Ceroid Lipofuscinosis, Neuronal, 3
Concentric hypertrophic cardiomyopathy, Optic atrophy, Increased extraneuronal autofluorescent li... OMIM:204200
Bardet-Biedl Syndrome 2
Dilated cardiomyopathy, Retinal degeneration, External genital hypoplasia, Rod-cone dystrophy, Hy... OMIM:615981
Congenital Hypothyroidism
Abnormality of reproductive system physiology, Optic atrophy, Hypertension, Paresthesia, Goiter, ... ORPHA:442
Progressive Supranuclear Palsy-Corticobasal Syndrome
Involuntary movements, Jerky head movements, Limb myoclonus, Rigidity, Frequent falls, Limb aprax... ORPHA:240103
Encephalopathy With Intracranial Calcification, Growth Hormone Deficiency, Microcephaly, And Retinal Degeneration
Ataxia, Decreased response to growth hormone stimulation test, Retinal degeneration, Spasticity OMIM:225755
Spastic Paraparesis-Deafness Syndrome
Gait disturbance, Ataxia, Cataract ORPHA:2815
Diabetes And Deafness, Maternally Inherited
Type II diabetes mellitus, Retinal degeneration, Vertigo, Cardiomyopathy, Sensorineural hearing i... OMIM:520000
Spinocerebellar Ataxia 7
Optic atrophy, Babinski sign, Dysmetria, Chorea, Abnormality of extrapyramidal motor function, Ma... OMIM:164500
Exudative Vitreoretinopathy 6
Exudative vitreoretinopathy, Retinal detachment, Posterior vitreous detachment, Cataract, Chorior... OMIM:616468
Spermatogenic Failure 38
Oligospermia, Reduced sperm motility, Coiled sperm flagella, Tapered sperm head, Male infertility... OMIM:618433
Coats Disease
Aplasia/Hypoplasia of the iris, Abnormal retinal vascular morphology, Retinal detachment, Catarac... ORPHA:190
Non-Specific Early-Onset Epileptic Encephalopathy
Involuntary movements, Optic atrophy, Limb hypertonia, Retinal degeneration, Rigidity, Failure to... ORPHA:442835
Mohr-Tranebjaerg Syndrome
Global brain atrophy, Oromandibular dystonia, Vestibular dysfunction, Abnormal pyramidal sign, Ca... ORPHA:52368
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly
Hyperactivity, Inability to walk OMIM:616657
X-Linked Intellectual Disability, Stocco Dos Santos Type
Hyperactivity, Cataract, Small for gestational age ORPHA:85288
Retinoschisis 1, X-Linked, Juvenile
Macular atrophy, Retinal degeneration, Mizuo phenomenon, Retinal pigment epithelial atrophy, Reti... OMIM:312700
Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination
Spasticity, Stereotypy OMIM:617393
Thiamine-Responsive Megaloblastic Anemia Syndrome
Optic atrophy, Retinal degeneration, Cardiomyopathy, Sensorineural hearing impairment, Ataxia, Di... OMIM:249270
Mental Retardation, Autosomal Recessive 37
Hyperactivity OMIM:615493
Macular Degeneration, Age-Related, 13
Choroidal neovascularization, Macular degeneration, Macular scar, Drusen OMIM:615439
Fragile X Syndrome
Macroorchidism, postpubertal, Periventricular heterotopia, Abnormal head movements, Macrotia, Con... OMIM:300624
Corneal Dystrophy, Groenouw Type I
Nodular corneal dystrophy, Granular corneal dystrophy, Cataract, Punctate corneal dystrophy OMIM:121900
Autism, Susceptibility To, X-Linked 2
Stereotypy OMIM:300495
Intellectual Developmental Disorder, X-Linked 109
Stereotypical body rocking, Recurrent hand flapping, Poor coordination OMIM:309548
Optic Atrophy 3, Autosomal Dominant
Optic atrophy, Optic disc pallor, Cataract OMIM:165300
Spermatogenic Failure 2
Oligospermia, Azoospermia OMIM:108420
Cone-Rod Dystrophy 16
Macular atrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, ... OMIM:614500
Developmental And Epileptic Encephalopathy 30
Stereotypy OMIM:616341
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Optic atrophy, Simplified gyral pattern, Stereotypy, Tremor, Hyperactivity, Spastic tetraparesis,... OMIM:619470
Cortical Dysplasia, Complex, With Other Brain Malformations 2
Hypertonia, Spastic tetraplegia, Stereotypy OMIM:615282
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures
Poor coordination, Paroxysmal dyskinesia, Chorea, Stereotypy, Ataxia OMIM:619150
Iris Pigment Layer, Cleavage Of
Cataract, Peripheral retinal detachment OMIM:147610
Ciliary Dyskinesia, Primary, 37
Hypothyroidism, Infertility, Goiter, Hearing impairment OMIM:617577
Auditory Neuropathy, Autosomal Dominant, 1
Sensorineural hearing impairment, Absence of acoustic reflex, Abnormal auditory evoked potentials... OMIM:609129
Fraxe Intellectual Disability
Clumsiness, Stereotypical body rocking, Recurrent hand flapping ORPHA:100973
Spermatogenic Failure 21
Infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617644
Spermatogenic Failure 16
Infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617187
Familial Thyroid Dyshormonogenesis
Congenital hypothyroidism, Goiter, Positive perchlorate discharge test, Increased radioactive iod... ORPHA:95716
Episodic Ataxia Type 4
Ataxia, Abnormal head movements, Incoordination, Frequent falls ORPHA:79136
Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity
Pancytopenia, Postnatal growth retardation, Intrauterine growth retardation OMIM:600546
Stargardt Disease 1
Retinitis pigmentosa inversa, Bull's eye maculopathy, Macular degeneration OMIM:248200
Obesity, Hyperphagia, And Developmental Delay
Stereotypy OMIM:613886
Spermatogenic Failure 44
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:619044
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Paralysis, Goiter, Myoclonus, Cerebral vasculitis, Hypothyroidism, Hashimoto thyroiditis, Abnorma... ORPHA:83601
Bangstad Syndrome
Small for gestational age, Goiter, Insulin-resistant diabetes mellitus, Progressive cerebellar at... OMIM:210740
Retinoschisis, Autosomal Dominant
Abnormality of macular pigmentation, Peripheral retinal degeneration, Retinoschisis OMIM:180270
Autosomal Recessive Ataxia Due To Pex10 Deficiency
Mydriasis, Type II diabetes mellitus, Diffuse cerebellar atrophy, Abnormal head movements, Progre... ORPHA:247815
Sorsby Pseudoinflammatory Fundus Dystrophy
Subretinal deposits, Hyporeflective spaces on macular OCT, Choroidal neovascularization, Macular ... ORPHA:59181
Isolated Follicle Stimulating Hormone Deficiency
Oligospermia, Abnormal sperm morphology, Testicular atrophy, Oligomenorrhea, Azoospermia, Hypogon... ORPHA:52901
Spermatogenic Failure 35
Coiled sperm flagella, Infertility, Absent sperm flagella, Short sperm flagella OMIM:618341
Spermatogenic Failure 33
Coiled sperm flagella, Infertility, Absent sperm flagella, Short sperm flagella OMIM:618152
Spermatogenic Failure 34
Coiled sperm flagella, Infertility, Absent sperm flagella, Short sperm flagella OMIM:618153
Spermatogenic Failure 18
Coiled sperm flagella, Infertility, Absent sperm flagella, Short sperm flagella OMIM:617576
Spermatogenic Failure 20
Coiled sperm flagella, Infertility, Absent sperm flagella, Short sperm flagella OMIM:617593
Spermatogenic Failure 19
Coiled sperm flagella, Infertility, Absent sperm flagella, Short sperm flagella OMIM:617592
Familial Male-Limited Precocious Puberty
Oligospermia, Macroorchidism, Long penis, Male infertility, Attention deficit hyperactivity disor... ORPHA:3000
Chromosome 3Q29 Deletion Syndrome
Small for gestational age, Failure to thrive, Macrotia, Posteriorly rotated ears, Stereotypy, Hyp... OMIM:609425
Photomyoclonus, Diabetes Mellitus, Deafness, Nephropathy, And Cerebral Dysfunction
Cochlear degeneration, Ataxia, Progressive sensorineural hearing impairment, Diabetes mellitus, S... OMIM:172500
Adult-Onset Autosomal Dominant Leukodystrophy
Impaired proprioception, Abnormal auditory evoked potentials, Atrophy/Degeneration affecting the ... ORPHA:99027
Immunodeficiency 17
Failure to thrive, Decreased proportion of CD8-positive T cells, Autoimmune hemolytic anemia OMIM:615607
Alg6-Cdg
Retinal degeneration, Failure to thrive, Rod-cone dystrophy, Ataxia, Increased circulating androg... ORPHA:79320
Juvenile Neuronal Ceroid Lipofuscinosis
Clumsiness, Optic disc pallor, Myoclonic spasms, Retinal degeneration, Poor motor coordination, C... ORPHA:79264
Macular Dystrophy, Retinal, 2
Retinal pigment epithelial atrophy, Macular dystrophy, Granular macular appearance, Perifoveal ri... OMIM:608051
Familial Exudative Vitreoretinopathy
Rhegmatogenous retinal detachment, Tractional retinal detachment, Vitreous floaters, Vitreoretino... ORPHA:891
Opticocochleodentate Degeneration
Optic atrophy, Cochlear degeneration, Spastic tetraplegia, Hearing impairment OMIM:258700
Cone-Rod Dystrophy 7
Macular atrophy, Bull's eye maculopathy, Cone/cone-rod dystrophy OMIM:603649
Retinal Dystrophy, Reticular Pigmentary, Of Posterior Pole
Retinal dystrophy, Reticular pigmentary degeneration, Drusen OMIM:267800
Spermatogenic Failure 30
Azoospermia, Cryptozoospermia OMIM:618110
Peripheral Cone Dystrophy
Optic atrophy, Peripheral retinal degeneration, Optic disc pallor, Cone/cone-rod dystrophy OMIM:609021
Cataract 21, Multiple Types
Cerulean cataract, Cortical pulverulent cataract, Iris coloboma, Macular hypoplasia, Retinal deta... OMIM:610202
Deafness-Hypogonadism Syndrome
Conductive hearing impairment, Enlarged cochlear aqueduct, Congenital stationary night blindness,... ORPHA:90646
Thyroid Hormone Resistance, Generalized, Autosomal Dominant
Impaired sensitivity to thyroid hormone, Attention deficit hyperactivity disorder, Increased circ... OMIM:188570
47,Xyy Syndrome
Oligospermia, Hypospadias, Increased serum testosterone level, Macroorchidism, Congenital station... ORPHA:8
Baker-Gordon Syndrome
Involuntary movements, Choreoathetosis, Stereotypy, Ataxia, Hyperkinetic movements OMIM:618218
Retinitis Pigmentosa 32
Pigmentary retinopathy, Photoreceptor layer loss on macular OCT, Optic disc pallor, Retinal degen... OMIM:609913
Stickler Syndrome Type 2
Abnormal vitreous humor morphology, Retinal detachment, Corneal opacity, Cataract, Retinopathy ORPHA:90654
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Macular atrophy, Chorioretinal coloboma, Retinal dystrophy, Iris coloboma, Retinal detachment, Ca... OMIM:212550
Exudative Vitreoretinopathy 7
Vitreoretinopathy, Retinal degeneration, Retinal hole OMIM:617572
Deafness, Autosomal Recessive 9
Sensorineural hearing impairment, Absent brainstem auditory responses, Absence of acoustic reflex OMIM:601071
Hyperprolinemia, Type I
Ataxia, Stereotypy OMIM:239500
Tsh-Secreting Pituitary Adenoma
Goiter, Ventricular arrhythmia, Abnormality of the menstrual cycle, Decreased female libido, Abno... ORPHA:91347
Macular Dystrophy, Patterned, 3
Macular atrophy, Rod-cone dystrophy, Choroidal neovascularization OMIM:617111
Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy
Abnormal penis morphology, Goiter, Abnormality of the menstrual cycle, Polycystic ovaries, Neopla... ORPHA:457059
Cowden Syndrome 5
Goiter, Ovarian cyst, Thyroid adenoma, Intention tremor, Hearing impairment, Hyperthyroidism, Thy... OMIM:615108
Retinitis Pigmentosa 9
Macular atrophy, Bone spicule pigmentation of the retina, Macular edema, Rod-cone dystrophy, Cata... OMIM:180104
Ceroid Lipofuscinosis, Neuronal, 10
Cerebellar atrophy, Increased neuronal autofluorescent lipopigment, Rigidity, Neuronal loss in ce... OMIM:610127
Immunodeficiency 15A
Decreased proportion of memory B cells, Decreased proportion of CD4-positive helper T cells, Decr... OMIM:618204
Megalocornea
Decreased corneal thickness, Corneal arcus, Lens subluxation, Iris transillumination defect, Irid... OMIM:309300
Severe Intellectual Disability-Progressive Postnatal Microcephaly-Midline Stereotypic Hand Movements Syndrome
Stereotypical hand wringing, Hyperkinetic movements ORPHA:397933
Vitreoretinal Degeneration, Snowflake Type
Retinal dots, Corneal guttata, Optically empty vitreous, Retinal detachment, Cataract, Snowflake ... OMIM:193230
Cowden Syndrome 6
Goiter, Ovarian cyst, Thyroid adenoma, Intention tremor, Hearing impairment, Hyperthyroidism, Thy... OMIM:615109
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Hyperactivity ORPHA:436151
Bothnia Retinal Dystrophy
Retinitis, Retinal degeneration, Retinal pigment epithelial mottling, Rod-cone dystrophy, Macular... ORPHA:85128
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Distal sensory impairment, Abnormal auditory evoked po... OMIM:601382
Huntington Disease-Like 3
Dystonia, Caudate atrophy, Chorea, Abnormal head movements, Abnormality of extrapyramidal motor f... ORPHA:157946
Stargardt Disease 3
Macular atrophy, Macular dystrophy, Macular flecks OMIM:600110
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Optic atrophy, Gait disturbance, Abnormal auditory evoked potentials, Ataxia, Spasticity, Progres... OMIM:125250
Autosomal Dominant Optic Atrophy Plus Syndrome
Optic atrophy, Temporal optic disc pallor, Absent brainstem auditory responses, Cardiomyopathy, S... ORPHA:1215
Flynn-Aird Syndrome
Increased bone density with cystic changes, Osteoporosis, Rod-cone dystrophy, Ataxia, Increased b... OMIM:136300
Graves Disease, Susceptibility To, 1
Goiter, Weight loss, Hyperactivity, Congestive heart failure, Graves disease OMIM:275000
Macular Dystrophy, Vitelliform, 2
Macular dystrophy, Subretinal fluid, Cystoid macular degeneration OMIM:153700
Hsd10 Disease, Infantile Type
Hypertrophic cardiomyopathy, Optic atrophy, Dystonia, Retinal degeneration, Poor coordination, Ch... ORPHA:391428
Thyroid Dyshormonogenesis 3
Compensated hypothyroidism, Thyroid carcinoma, Increased T3/T4 ratio, Goiter OMIM:274700
Neurodevelopmental Disorder With Hypotonia And Autistic Features With Or Without Hyperkinetic Movements
Chorea, Stereotypical hand wringing OMIM:618760
Jeavons Syndrome
EEG with focal epileptiform discharges, Limb myoclonus, Interictal epileptiform activity, Continu... ORPHA:139431
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome
Optic atrophy, Cochlear degeneration, Spinocerebellar atrophy, Conjunctival telangiectasia, Spast... ORPHA:95433
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia
Babinski sign, Spasticity, Stereotypy OMIM:612069
Autosomal Recessive Non-Syndromic Intellectual Disability
Dystonia, EEG with focal epileptiform discharges, Chorea, EEG with generalized epileptiform disch... ORPHA:88616
Metaphyseal Dysplasia, Anetoderma, And Optic Atrophy
Optic atrophy, Macular atrophy, Cranial nerve compression OMIM:250450
Retinitis Pigmentosa 48
Rod-cone dystrophy, Macular degeneration OMIM:613827
Permanent Congenital Hypothyroidism
Tetraplegia, Hypothyroidism, Thyroid dysgenesis, Goiter ORPHA:226292
Spermatogenic Failure, Y-Linked, 1
Male infertility, Reduced sperm motility OMIM:400042
Spermatogenic Failure 55
Male infertility, Reduced sperm motility OMIM:619380
Adult Krabbe Disease
Clumsiness, Prolonged brainstem auditory evoked potentials, Babinski sign, Hoffmann sign, Gait di... ORPHA:206448
Doyne Honeycomb Retinal Dystrophy
Retinal dystrophy, Reticular pigmentary degeneration OMIM:126600
Usher Syndrome, Type Iv
Retinal degeneration, Bone spicule pigmentation of the retina, Hyperautofluorescent macular lesio... OMIM:618144
Cochleosaccular Degeneration-Cataract Syndrome
Cochlear degeneration, Ataxia, Progressive sensorineural hearing impairment ORPHA:3233
Hypocalcemia, Autosomal Dominant 2
Postnatal growth retardation OMIM:615361
Late Infantile Neuronal Ceroid Lipofuscinosis
Gait disturbance, Cerebellar atrophy, Retinal degeneration, EEG with series of focal spikes, EEG ... ORPHA:168491
Isochromosomy Yq
Azoospermia, Varicocele, Ambiguous genitalia, Male infertility, Gonadal tissue inappropriate for ... ORPHA:98798
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Goiter, Palpitations, Weight loss, Tachycardia, Hyperthyroidism, Periodic paralysis OMIM:188580
Retinitis Pigmentosa 70
Optic disc pallor, Retinal degeneration, Rod-cone dystrophy OMIM:615922
Macular Degeneration, Age-Related, 3
Drusen, Choroidal neovascularization, Decreased nerve conduction velocity, Macular degeneration, ... OMIM:608895
Spinocerebellar Ataxia, Autosomal Recessive 3
Cochlear degeneration, Ataxia, Hearing impairment OMIM:271250
Senior-Loken Syndrome
Abnormality of retinal pigmentation, Abnormality of bone mineral density, Retinal dystrophy, Atax... ORPHA:3156
Growth Retardation, Small And Puffy Hands And Feet, And Eczema
Postnatal growth retardation, Intrauterine growth retardation OMIM:233810
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Goiter, Palpitations, Weight loss, Tachycardia, Hyperthyroidism, Periodic paralysis OMIM:613239
Severe Neurodevelopmental Disorder With Feeding Difficulties-Stereotypic Hand Movement-Bilateral Cataract
Failure to thrive, Hypsarrhythmia, Stereotypical hand wringing, Spasticity, Cerebral atrophy ORPHA:500545
Exudative Vitreoretinopathy 4
Tractional retinal detachment, Exudative vitreoretinopathy, Peripheral retinal avascularization, ... OMIM:601813
Macular Degeneration, Early-Onset
Choroidal neovascularization, Macular degeneration OMIM:616118
Autosomal Recessive Spastic Paraplegia Type 44
Abnormal auditory evoked potentials, Abnormality of somatosensory evoked potentials, Abnormal mot... ORPHA:320401
Microphthalmia, Isolated 5
Foveoschisis, Drusen, Optic disc drusen, Bone spicule pigmentation of the retina, Rod-cone dystro... OMIM:611040
Late-Onset Retinal Degeneration
Sub-RPE deposits, Retinal degeneration, Retinopathy, Rod-cone dystrophy OMIM:605670
Bardet-Biedl Syndrome 1
Gait imbalance, Rod-cone dystrophy, Hearing impairment, Micropenis, Nephrogenic diabetes insipidu... OMIM:209900
Intellectual Developmental Disorder And Retinitis Pigmentosa
Optic disc pallor, Cataract, Peripapillary atrophy, Macular degeneration OMIM:618195
Thyroid Cancer, Nonmedullary, 1
Non-medullary thyroid carcinoma, Papillary thyroid carcinoma, Goiter OMIM:188550
Cholestasis With Gallstone, Ataxia, And Visual Disturbance
Optic atrophy, Ataxia, Cholelithiasis, Retinal degeneration OMIM:214980
Maffucci Syndrome
Neoplasm of the parathyroid gland, Ovarian neoplasm, Goiter, Neoplasm of the adrenal cortex, Cere... ORPHA:163634
Retinitis Pigmentosa 37
Cataract, Cystoid macular degeneration, Rod-cone dystrophy, Pigmentary retinopathy OMIM:611131
Stargardt Disease 4
Retinal flecks, Macular degeneration OMIM:603786
Abcd Syndrome
Abnormal auditory evoked potentials, Aganglionic megacolon, Hypopigmentation of the fundus, Large... OMIM:600501
X-Linked Neurodegenerative Syndrome, Bertini Type
Ataxia, Macular degeneration ORPHA:85334
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Thyroid hyperplasia, Goiter, Small for gestational age, Hand tremor, Weight loss, Hyperactivity, ... ORPHA:424
Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability
Increased adipose tissue, Gait disturbance, Cataract, Tip-toe gait OMIM:617404
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Choreoathetosis, Facial palsy, Absent brainstem auditory responses, Sensorineural hearing impairm... OMIM:617519
Cataract, Microcephaly, Failure To Thrive, Kyphoscoliosis Syndrome
Failure to thrive, Cataract, Arthrogryposis multiplex congenita, Small for gestational age OMIM:212540
Intellectual Developmental Disorder, X-Linked 101
Hyperactivity, Optic atrophy OMIM:300928
Pediatric-Onset Graves Disease
Hypertension, Increased circulating T4 level, Atrial fibrillation, Goiter, Puberty and gonadal di... ORPHA:525731
Cowden Syndrome 1
Goiter, Ovarian cyst, Thyroid adenoma, Intention tremor, Hearing impairment, Hyperthyroidism, Thy... OMIM:158350
Macular Dystrophy, Retinal, 3
Retinal pigment epithelial atrophy, Macular drusen OMIM:608850
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Gait disturbance, Upper limb spasticity, Macrotia, Stereotypy, Tremor, Myocardial infarction, Mic... ORPHA:457240
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Optic atrophy, Macular atrophy, Optic disc pallor, Retinopathy, Cataract, Microcornea OMIM:616171
Late-Infantile/Juvenile Krabbe Disease
Clumsiness, Prolonged brainstem auditory evoked potentials, Gait disturbance, Acroparesthesia, Fr... ORPHA:206443
Deafness-Infertility Syndrome
Sensorineural hearing impairment, Male infertility, Azoospermia ORPHA:94064
Retinal Degeneration And Epilepsy
Retinal degeneration OMIM:267740
Cataract-Microcornea Syndrome
Corneal dystrophy, Iris coloboma, Corneal opacity, Cataract, Microcornea ORPHA:1377
Ogden Syndrome
Torticollis, Abnormal head movements, Macrotia, Shuffling gait, Cardiogenic shock, Hypertonia, Ce... ORPHA:276432
Lead Poisoning
Oligospermia, Abnormal sperm morphology, Poor gross motor coordination, Infertility, Decreased ci... ORPHA:330015
Spermatogenic Failure 10
Abnormal sperm morphology, Infertility OMIM:614822
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Macular atrophy, Optic disc pallor, Abnormal auditory evoked potentials, Retinal degeneration, Ce... OMIM:619260
Microcephaly, Seizures, And Developmental Delay
Hyperactivity, Ataxia OMIM:613402
Familial Papillary Or Follicular Thyroid Carcinoma
Follicular thyroid carcinoma, Papillary thyroid carcinoma, Nodular goiter, Goiter ORPHA:319487
Autism Spectrum Disorder Due To Auts2 Deficiency
Small for gestational age, Cerebral palsy, Stereotypy, Repetitive compulsive behavior, Hyperactiv... ORPHA:352490
Cone-Rod Dystrophy 22
Hypoautofluorescent retinal lesion, Bull's eye maculopathy, Hyperautofluorescent macular lesion, ... OMIM:619531
Thyroid Dyshormonogenesis 5
Hypothyroidism, Goiter OMIM:274900
Thyroid Dyshormonogenesis 4
Hypothyroidism, Goiter OMIM:274800
Intellectual Developmental Disorder, Autosomal Recessive 39
Stereotypy OMIM:615541
Spermatogenic Failure 36
Abnormal sperm morphology, Male infertility OMIM:618420
Pontocerebellar Hypoplasia, Type 11
Poor coordination, Macrotia, Stereotypy, Ataxia, Inability to walk, Decreased body weight, Spasti... OMIM:617695
Trichomegaly
Cataract OMIM:190330
Adrenal Hypoplasia, Congenital
Oligospermia, Decreased circulating aldosterone level, Adrenal insufficiency, Azoospermia, Failur... OMIM:300200
Retinitis Pigmentosa 31
Retinal pigment epithelial atrophy, Rod-cone dystrophy, Attenuation of retinal blood vessels OMIM:609923
Functioning Gonadotropic Adenoma
Oligospermia, Abnormal prolactin level, Increased serum testosterone level, Abnormality of the me... ORPHA:91348
Myxedema
Paresthesia, Goiter, Elevated circulating thyroid-stimulating hormone concentration, Hypothyroidi... OMIM:255900
Intellectual Developmental Disorder, Autosomal Recessive 74
Hyperactivity OMIM:617169
Oculorenocerebellar Syndrome
Spastic diplegia, Retinal degeneration, Choreoathetosis OMIM:257970
Autosomal Dominant Progressive External Ophthalmoplegia
Dilated cardiomyopathy, Goiter, Ventricular arrhythmia, Hearing impairment, Diabetes mellitus, Le... ORPHA:254892
Retinitis Pigmentosa 2
Pigmentary retinopathy, Cataract, Rod-cone dystrophy, Chorioretinal degeneration OMIM:312600
Retinal Cone Dystrophy 1
Bull's eye maculopathy, Retinal degeneration, Cone/cone-rod dystrophy OMIM:180020
Pyruvate Dehydrogenase E2 Deficiency
Ataxia, Oculomotor apraxia, Jerky head movements, Choreoathetosis OMIM:245348
Aceruloplasminemia
Involuntary movements, Dystonia, Abnormality of retinal pigmentation, Retinal degeneration, Rigid... ORPHA:48818
Mental Retardation, Autosomal Recessive 41
Stereotypy OMIM:615637
Retinitis Pigmentosa 33
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Retinal pigment e... OMIM:610359
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities
Dystonia, Cerebellar atrophy, Chorea, Stereotypy, Inability to walk, Stereotypical hand wringing,... OMIM:618917
Leukoencephalopathy With Dystonia And Motor Neuropathy
Abnormal motor neuron morphology, Azoospermia, Torticollis, Intention tremor, Hypergonadotropic h... OMIM:613724
Familial Gestational Hyperthyroidism
Thyroid hyperplasia, Goiter, Hand tremor, Weight loss, Hyperactivity, Hyperthyroidism, Activating... ORPHA:99819
Retinitis Pigmentosa 38
Peripheral retinal atrophy, Macular atrophy, Optic disc pallor, Rod-cone dystrophy OMIM:613862
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Large fleshy ears, Overfolded helix, Myoclonus, Stereotypy, Tremor, Ataxia, Hypertonia, Brain atr... OMIM:619092
Thyroid Dyshormonogenesis 2A
Hypothyroidism, Thyroid defect in oxidation and organification of iodide, Goiter OMIM:274500
Smith-Magenis Syndrome
Morphological abnormality of the middle ear, Impaired pain sensation, Stereotypy, Hearing impairm... OMIM:182290
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay
Developmental cataract, Cataract OMIM:613076
Aceruloplasminemia
Retinal degeneration, Torticollis, Chorea, Abnormality of extrapyramidal motor function, Cogwheel... OMIM:604290
Macular Degeneration, Age-Related, 11
Macular degeneration OMIM:611953
Macular Degeneration, Age-Related, 4
Macular degeneration OMIM:610698
Macular Degeneration, Age-Related, 2
Macular degeneration OMIM:153800
Macular Degeneration, Age-Related, 6
Macular degeneration OMIM:613757
1Q21.1 Microduplication Syndrome
Failure to thrive, Attention deficit hyperactivity disorder, Cataract, Arthrogryposis multiplex c... ORPHA:250994
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Retinal degeneration OMIM:251700
Macular Degeneration, X-Linked Atrophic
Macular degeneration OMIM:300834
48,Xxyy Syndrome
Infertility, Type II diabetes mellitus, Azoospermia, Chronic otitis media, Stereotypy, Tremor, At... ORPHA:10
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Abnormality of retinal pigmentation, Optic disc pallor, Retinal fold, Retinal dystrophy, Choriore... OMIM:251270
Foxg1 Syndrome
Dystonia, Choreoathetosis, Optic disc hypoplasia, Myoclonus, Stereotypy, Pachygyria, Inability to... ORPHA:561854
Stargardt Macular Degeneration, Absent Or Hypoplastic Corpus Callosum, Mental Retardation, And Dysmorphic Facial Features
Large earlobe, Sensorineural hearing impairment, Macular degeneration OMIM:612948
Developmental And Epileptic Encephalopathy 26
Stereotypical hand wringing OMIM:616056
Charcot-Marie-Tooth Disease, Type 4C
Decreased motor nerve conduction velocity, Abnormal cranial nerve morphology, Tongue fasciculatio... OMIM:601596
Isolated Thyroid-Stimulating Hormone Deficiency
Clumsiness, Macroorchidism, Goiter, Thyroid hypoplasia, Failure to thrive, Pituitary hypothyroidi... ORPHA:90674
Severe Intellectual Disability And Progressive Spastic Paraplegia
Babinski sign, Dystonia, Cerebellar atrophy, Spastic dysarthria, Stereotypy, Waddling gait, Diffi... ORPHA:280763
Retinitis Pigmentosa 11
Macular atrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, ... OMIM:600138
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7
Babinski sign, Myoclonus, Rigidity, Stereotypy OMIM:600795
Bardet-Biedl Syndrome 17
Macular atrophy, Retinal degeneration, Poor coordination, Bone spicule pigmentation of the retina... OMIM:615994
Leber Congenital Amaurosis With Early-Onset Deafness
Retinal degeneration OMIM:617879
Anaplastic Thyroid Carcinoma
Goiter, Weight loss, Vocal cord paralysis, Anaplastic thyroid carcinoma, Nodular goiter ORPHA:142
Dihydropyrimidine Dehydrogenase Deficiency
Hyperactivity, Optic atrophy, Failure to thrive, Lethargy OMIM:274270
Refsum Disease, Classic
Retinal degeneration, Cardiomyopathy, Rod-cone dystrophy, Sensorineural hearing impairment, Ataxi... OMIM:266500
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Abnormal sperm morphology, Abnormal sperm tail morphology, Increased circulating gonadotropin lev... ORPHA:399808
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Stereotypy, Tremor, Hyperactivity, Inability to walk, Brain atrophy, EEG abnormality, Spasticity,... OMIM:618718
Adult-Onset Autosomal Recessive Cerebellar Ataxia
Cerebellar atrophy, Dysmetria, Progressive gait ataxia, Fasciculations, Intention tremor, Macular... ORPHA:284289
Goiter, Multinodular 1, With Or Without Sertoli-Leydig Cell Tumors
Papillary thyroid carcinoma, Euthyroid multinodular goiter OMIM:138800
Thyroid Cancer, Nonmedullary, 4
Non-medullary thyroid carcinoma, Goiter OMIM:616534
Retinopathy, Pericentral Pigmentary, Dominant
Attenuation of retinal blood vessels, Retinal dystrophy, Bone spicule pigmentation of the retina,... OMIM:180210
Myopia, High, With Cataract And Vitreoretinal Degeneration
Retinal detachment, Peripheral vitreoretinal degeneration, Cataract, Lens subluxation OMIM:614292
Thyroid Dyshormonogenesis 1
Hypothyroidism, Goiter, Lethargy OMIM:274400
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia
Papillary thyroid carcinoma, Nodular goiter, Goiter ORPHA:97290
Ectodermal Dysplasia, Hypohidrotic, With Hypothyroidism And Agenesis Of The Corpus Callosum
Primary hypothyroidism, Goiter OMIM:225040
Norrie Disease
Optic atrophy, Retinal fold, Shallow anterior chamber, Retinal dysplasia, Hypoplasia of the iris,... OMIM:310600
Mccune-Albright Syndrome
Macroorchidism, Increased serum testosterone level, Increased circulating prolactin concentration... ORPHA:562
Mitochondrial Dna Depletion Syndrome 14 (Cardioencephalomyopathic Type)
Hypertrophic cardiomyopathy, Opisthotonus, Retinal degeneration, Sensorineural hearing impairment... OMIM:616896
Autism, Susceptibility To, 3
Stereotypy OMIM:608049
Guanidinoacetate Methyltransferase Deficiency
Athetosis, Progressive extrapyramidal movement disorder, Chorea, Abnormal head movements, Abnorma... ORPHA:382
Optic Atrophy 8
Optic atrophy, Abnormal auditory evoked potentials, Mitral regurgitation, Sensorineural hearing i... OMIM:616648
Retinitis Pigmentosa 4
Cataract, Rod-cone dystrophy, Pigmentary retinopathy OMIM:613731
Hyperthyroidism, Nonautoimmune
Thyroid hyperplasia, Goiter, Small for gestational age, Tachycardia, Hyperactivity, Hyperthyroidism OMIM:609152
Cataract 9, Multiple Types
Developmental cataract, Progressive cataract, Iris coloboma, Cataract, Microcornea OMIM:604219
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome
Oromotor apraxia, Failure to thrive, Recurrent otitis media, Pulmonary arterial hypertension, Rep... ORPHA:391372
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Optic atrophy, Chorioretinal coloboma, Posterior embryotoxon, Iris coloboma, Retinal detachment, ... ORPHA:1473
Deiodinase, iodothyronine, type I
Euthyroid hyperthyroxinemia, Goiter OMIM:147892
Thyroid Hormone Plasma Membrane Transport Defect
Euthyroid hyperthyroxinemia, Goiter OMIM:188560
Charcot-Marie-Tooth Disease Type 1F
Impaired proprioception, Paresthesia, Impaired pain sensation, Steppage gait, Hand tremor, Optic ... ORPHA:101085
Leber Congenital Amaurosis 2
Keratoconus, Cataract, Fundus atrophy, Pigmentary retinopathy OMIM:204100
Retinal Dystrophy And Obesity
Retinal dystrophy, Peripapillary atrophy, Retinal pigment epithelial atrophy, Retinal detachment,... OMIM:616188
Alstrom Syndrome
Dilated cardiomyopathy, Pigmentary retinopathy, Hypertension, Diabetes insipidus, Insulin-resista... OMIM:203800
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Hyperactivity, Attention deficit hyperactivity disorder OMIM:617182
Glutaric Aciduria Iii
Failure to thrive, Hypertension, Hyperthyroidism, Goiter OMIM:231690
Anterior Segment Dysgenesis 8
Persistent pupillary membrane, Hypoplasia of the iris, Ectopia lentis, Microphakia, Iris transill... OMIM:617319
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Dysmetria, Gait disturbance, Inability to walk, Hyperactivity OMIM:618090
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Optic atrophy, Cataract, Flexion contracture, Retinal dysplasia OMIM:613154
Spinocerebellar Ataxia 32
Testicular atrophy, Cerebellar atrophy, Infertility, Azoospermia, Ataxia OMIM:613909
Combined Immunodeficiency, X-Linked
Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells OMIM:312863
Rhabdomyosarcoma, Embryonal, 2
Multinodular goiter, Thyroid nodule, Ovarian thecoma, Goiter OMIM:180295
Growth Hormone Deficiency, Isolated Partial
Postnatal growth retardation, Short stature OMIM:615925
Pantothenate Kinase-Associated Neurodegeneration
Retinal flecks, Rod-cone dystrophy, Gait disturbance, Choreoathetosis, Intention tremor, Slurred ... ORPHA:157850
Spinocerebellar Ataxia Type 32
Testicular atrophy, Cerebellar atrophy, Azoospermia, Progressive cerebellar ataxia, Male infertility ORPHA:276183
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Congenital hypothyroidism, Goiter, Decreased circulating T4 level, Bradycardia, Large for gestati... ORPHA:226313
Ectopia Lentis Et Pupillae
Retinal detachment, Persistent pupillary membrane, Cataract, Ectopia lentis OMIM:225200
Exfoliation Syndrome
Mydriasis, Abnormality of the lens, Lens subluxation, Phakodonesis, Iris hypoperfusion, Retinal v... OMIM:177650
Microspherophakia With Hernia
Retinal detachment, Microspherophakia, Inguinal hernia, Superior lens subluxation OMIM:157150
Silver-Russell Syndrome Due To 11P15 Microduplication
Severe intrauterine growth retardation, Intrauterine growth retardation, Short stature, Small for... ORPHA:231144
Immunodeficiency 55
Postnatal growth retardation, Intrauterine growth retardation, Neutropenia, Short stature OMIM:617827
Peroxisome Biogenesis Disorder 8B
Optic atrophy, Dysmetria, Retinal dystrophy, Failure to thrive, Ataxia, Cataract OMIM:614877
Xq21 Microdeletion Syndrome
Conductive hearing impairment, Optic atrophy, Hypertension, Dilatated internal auditory canal, Ab... ORPHA:1435
Mental Retardation, Autosomal Dominant 7
Gait disturbance, Failure to thrive in infancy, Small for gestational age, Macrotia, Abnormality ... OMIM:614104
Ciliary Dyskinesia, Primary, 41
Infertility, Immotile sperm, Recurrent otitis media OMIM:618449
Chromosome Xq21 Deletion Syndrome
Conductive hearing impairment, Choroideremia, Hearing impairment, Chorioretinal degeneration, Inc... OMIM:303110
Central Areolar Choroidal Dystrophy
Macular atrophy, Drusen, Hypopigmentation of the fundus, Retinal pigment epithelial mottling, Hyp... ORPHA:75377
Usher Syndrome Type 1
Subcortical cerebral atrophy, Sensorineural hearing impairment, Ataxia, Iris hypopigmentation, Ve... ORPHA:231169
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Azoospermia, Obstructive azoospermia, Increased circulating gonadotropin level, Abnormal spermato... ORPHA:399805
Multiple Endocrine Neoplasia Type 1
Shortened QT interval, Thyroid carcinoma, Goiter, Increased circulating cortisol level, Insulinom... ORPHA:652
Christianson Syndrome
Dystonia, Cachexia, Cerebellar atrophy, Neuronal loss in central nervous system, Macrotia, Stereo... ORPHA:85278
Pick Disease Of Brain
Stereotypy OMIM:172700
Intellectual Developmental Disorder, Autosomal Recessive 71
Macrotia, Stereotypy, Hyperactivity, Micropenis, Cryptorchidism, Attention deficit hyperactivity ... OMIM:618504
Intellectual Disability-Cataracts-Kyphosis Syndrome
Failure to thrive, Knee flexion contracture, Iris coloboma, Cataract, Elbow flexion contracture ORPHA:171860
Spastic Paraplegia 15, Autosomal Recessive
Babinski sign, Clonus, Retinal degeneration, Paraplegia, Spastic gait, Lower limb spasticity, Mac... OMIM:270700
Mental Retardation With Language Impairment And With Or Without Autistic Features
Failure to thrive in infancy, Speech apraxia, Stereotypy, Obesity, Attention deficit hyperactivit... OMIM:613670
Cone-Rod Dystrophy 11
Macular atrophy, Bull's eye maculopathy, Cone/cone-rod dystrophy, Macular degeneration OMIM:610381
Central Retinal Vein Occlusion
Intraretinal hemorrhage, Macular edema, Macular degeneration, Papilledema, Retinal neovasculariza... ORPHA:411527
Sporadic Adult-Onset Ataxia Of Unknown Etiology
Babinski sign, Abnormal cranial nerve morphology, Rigidity, Shuffling gait, Gait ataxia, Intentio... ORPHA:247234
8p23.1 deletion syndrome
Hyperactivity, Congenital diaphragmatic hernia DECIPHER:39
New-Onset Refractory Status Epilepticus
EEG with temporal epileptiform discharges, Global brain atrophy, Abnormal head movements, EEG wit... ORPHA:363558
Intellectual Developmental Disorder With Cardiac Arrhythmia
Arrhythmia, Retinal degeneration, Bradycardia, Sick sinus syndrome OMIM:617173
Mannosidosis, Beta A, Lysosomal
Tortuosity of conjunctival vessels, Hyperactivity OMIM:248510
Aminoacylase 1 Deficiency
Hyperactivity OMIM:609924
Fbln1-Related Developmental Delay-Central Nervous System Anomaly-Syndactyly Syndrome
Dystonia, Choroidal neovascularization, Macular degeneration, Spastic tetraparesis, Cryptorchidis... ORPHA:404451
Blepharochalasis And Double Lip
Goiter OMIM:109900
Retinitis Pigmentosa 13
Cystoid macular edema, Hypopigmentation of the fundus, Retinal degeneration, Rod-cone dystrophy OMIM:600059
Hyperlysinemia, Type I