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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
increased total body fat amount Ap1g1tm1b(EUCOMM)Hmgu HET Early adult 1.27×10-12
preweaning lethality, complete penetrance Ap1g1tm1b(EUCOMM)Hmgu HOM   Early adult 0.00
abnormal retina morphology Ap1g1tm1b(EUCOMM)Hmgu HET Early adult 1.88×10-07
hyperactivity Ap1g1tm1b(EUCOMM)Hmgu HET Early adult 1.44×10-07
increased vertical activity Ap1g1tm1b(EUCOMM)Hmgu HET Early adult 1.49×10-06
embryonic lethality prior to organogenesis Ap1g1tm1b(EUCOMM)Hmgu HOM   E9.5 0.00
decreased bone mineral content Ap1g1tm1b(EUCOMM)Hmgu HET Early adult 9.61×10-12
decreased lean body mass Ap1g1tm1b(EUCOMM)Hmgu HET Early adult 1.16×10-09
cataract Ap1g1tm1b(EUCOMM)Hmgu HET Early adult 2.52×10-06

Download data as:  TSV  XLS

Select physiological systems to view:
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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  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 0.72% (4 of 555)
aorta 0.18% (1 of 541)
brain 0.92% (5 of 545)
brainstem 0.37% (2 of 543)
brown adipose tissue 0.0%
cartilage tissue 0.18% (1 of 546)
cerebellum 0.37% (2 of 545)
cerebral cortex 0.37% (2 of 535)
epididymis 12.78% (17 of 133)
esophagus 1.8% (7 of 388)
eye 0.0%
heart 0.37% (2 of 535)
hippocampus 0.55% (3 of 545)
hypothalamus 0.36% (2 of 549)
kidney 4.61% (25 of 542)
large intestine 5.24% (28 of 534)
liver 0.0%
lower urinary tract 0.19% (1 of 539)
lung 0.37% (2 of 546)
lymph node 0.19% (1 of 540)
mammary gland 0.0%
midbrain 0.0%
olfactory lobe 0.37% (2 of 543)
ovary 0.18% (1 of 545)
oviduct 0.0%
pancreas 0.73% (4 of 546)
peripheral nervous system 0.37% (2 of 542)
peyers patch 0.0%
pituitary gland 0.18% (1 of 544)
prostate gland 2.15% (12 of 558)
skeletal muscle 0.0%
skin 0.18% (1 of 557)
small intestine 5.37% (29 of 540)
spinal cord 0.37% (2 of 538)
spleen 0.37% (2 of 538)
stomach 3.51% (19 of 542)
striatum 0.56% (3 of 540)
submandibular gland 1.46% (2 of 137)
testis 1.09% (6 of 552)
thalamus 0.0%
thymus 0.19% (1 of 537)
thyroid gland 3.37% (18 of 534)
trachea 0.56% (3 of 532)
urinary bladder 0.0%
uterus 0.37% (2 of 535)
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 1.74% (6 of 344)
dorsal root ganglion 0.0%
ear 0.29% (1 of 341)
embryo 0.28% (1 of 353)
eye 0.0%
footplate 0.28% (1 of 358)
forebrain 0.29% (1 of 347)
forelimb 0.27% (1 of 376)
fronto-nasal process 2.13% (1 of 47)
handplate 0.29% (1 of 348)
head 1.12% (4 of 357)
heart 0.27% (1 of 366)
hindbrain 0.57% (2 of 348)
hindlimb 0.29% (1 of 341)
liver 0.3% (1 of 338)
lung 0.29% (1 of 342)
mandibular process 0.29% (1 of 343)
maxillary process 0.29% (1 of 347)
midbrain 0.28% (1 of 354)
nose 1.89% (1 of 53)
oral cavity 0.0%
skin 0.29% (1 of 348)
spinal cord 0.0%
tail 0.28% (1 of 354)
tail somite group 0.3% (1 of 337)

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 Forepaw

8 Images

View images
Adult LacZ

LacZ Images Section

40 Images

View images
X-ray

XRay Images Whole Body Dorso Ventral

9 Images

View images
X-ray

XRay Images Skull Lateral Orientation

9 Images

View images
X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

View images
X-ray

XRay Images Whole Body Lateral Orientation

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)

7 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
Motor stereotypy, Cerebral atrophy, EEG with focal epileptiform discharges, Chorea, EEG with gene... 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, Abnormal head movements, Chorea OMIM:616939
Asperger Syndrome, X-Linked, Susceptibility To, 2
Motor stereotypy OMIM:300497
Asperger Syndrome, X-Linked, Susceptibility To, 1
Motor stereotypy OMIM:300494
Asperger Syndrome, Susceptibility To, 1
Motor stereotypy OMIM:608638
Asperger Syndrome, Susceptibility To, 2
Motor stereotypy OMIM:608631
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities
Motor stereotypy OMIM:617787
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Intellectual Developmental Disorder, Autosomal Dominant 33
Decreased body weight, Chorioretinal degeneration, Hyperactivity OMIM:616311
Spermatogenic Failure 65
Reduced progressive sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced... OMIM:619712
Intellectual Developmental Disorder With Autism And Speech Delay
Motor stereotypy OMIM:606053
Autism
Motor stereotypy OMIM:209850
Autism, Susceptibility To, X-Linked 3
Motor stereotypy OMIM:300496
Autism, Susceptibility To, 8
Motor stereotypy OMIM:607373
Autism, Susceptibility To, X-Linked 1
Motor stereotypy OMIM:300425
Chromosome 15Q11-Q13 Duplication Syndrome
Motor stereotypy OMIM:608636
Spermatogenic Failure 56
Reduced progressive sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced... OMIM:619515
Spermatogenic Failure 51
Microcephalic sperm head, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced sperm mot... OMIM:619177
Spinocerebellar Ataxia, Autosomal Recessive 12
Ataxia, Retinal degeneration, Limb ataxia, Babinski sign, Optic atrophy, Gait ataxia, Spasticity,... OMIM:614322
Primary Dystonia, Dyt13 Type
Torticollis, Motor stereotypy, Action tremor, Jerky head movements, Involuntary movements, Postur... ORPHA:98807
Intellectual Developmental Disorder, X-Linked 72
Motor stereotypy OMIM:300271
Hyperlysinemia, Type I
Hyperactivity, Ectopia lentis OMIM:238700
Phosphoserine Phosphatase Deficiency
Postnatal growth retardation, Intrauterine growth retardation OMIM:614023
Spermatogenic Failure 54
Coiled sperm flagella, Reduced sperm motility, Cryptozoospermia, Oligospermia, Short sperm flagel... OMIM:619379
Intellectual Developmental Disorder, Autosomal Recessive 54
Hyperactivity OMIM:617028
Schizophrenia 15
Hyperactivity OMIM:613950
Spermatogenic Failure, X-Linked, 3
Coiled sperm flagella, Irregularly shaped sperm tail, Reduced sperm motility, Oligospermia, Short... OMIM:301059
Morm Syndrome
Hyperactivity, Truncal obesity, Retinal dystrophy, Cataract, Retinal atrophy ORPHA:75858
Bardet-Biedl Syndrome 16
External genital hypoplasia, Retinal degeneration, Rod-cone dystrophy, Recurrent otitis media, Ob... OMIM:615993
Episodic Kinesigenic Dyskinesia 2
Paroxysmal dyskinesia, Involuntary movements, Chorea OMIM:611031
Intellectual Developmental Disorder, Autosomal Recessive 3
Hyperactivity OMIM:608443
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Tremor, Hereditary Essential, 1
Postural tremor, Action tremor, Hand tremor OMIM:190300
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Spermatogenic Failure 58
Reduced progressive sperm motility, Immotile sperm, Irregularly shaped sperm tail, Oligospermia, ... OMIM:619585
Spermatogenic Failure 39
Coiled sperm flagella, Reduced sperm motility, Oligospermia, Short sperm flagella, Male infertili... OMIM:618643
Ceroid Lipofuscinosis, Neuronal, 2
Ataxia, Abnormal nervous system electrophysiology, Cerebral atrophy, Retinal degeneration, Myoclo... OMIM:204500
Spermatogenic Failure 40
Immotile sperm, Coiled sperm flagella, Oligospermia, Short sperm flagella, Male infertility, Abse... OMIM:618664
Tremor, Hereditary Essential, 6
Kinetic tremor, Vocal tremor, Postural tremor, Head tremor OMIM:618866
Autosomal Recessive Spastic Paraplegia Type 46
Ataxia, Babinski sign, Truncal ataxia, Head tremor, Difficulty walking, Lower limb spasticity, Ab... ORPHA:320391
Cataract 20, Multiple Types
Membranous cataract, Cataract OMIM:116100
Hydrocephaly-Cerebellar Agenesis Syndrome
Ataxia, Cataract ORPHA:1397
Spermatogenic Failure 72
Reduced progressive sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Short s... OMIM:619867
Partial Chromosome Y Deletion
Oligospermia, Non-obstructive azoospermia, Male infertility, Decreased testicular size, Abnormal ... ORPHA:1646
Spermatogenic Failure 47
Immotile sperm, Oligospermia, Short sperm flagella, Male infertility, Absent sperm flagella OMIM:619102
Spermatogenic Failure 63
Male infertility, Reduced progressive sperm motility, Oligospermia, Decreased testicular size OMIM:619689
Ceroid Lipofuscinosis, Neuronal, 3
Loss of ambulation, Cerebral atrophy, Retinal degeneration, Concentric hypertrophic cardiomyopath... OMIM:204200
Oliver-Mcfarlane Syndrome
Hypoplasia of penis, Decreased response to growth hormone stimulation test, Small for gestational... OMIM:275400
Smith-Magenis syndrome
Motor stereotypy DECIPHER:8
Pendred Syndrome
Congenital sensorineural hearing impairment, Cochlear malformation, Thyroid carcinoma, Compensate... OMIM:274600
Immunodeficiency 8
Hyperactivity OMIM:615401
Deafness-Infertility Syndrome
Reduced sperm motility, Abnormal sperm tail morphology, Male infertility, Abnormal spermatogenesi... OMIM:611102
Ceroid Lipofuscinosis, Neuronal, 1
Ataxia, EEG abnormality, Cerebral atrophy, Retinal degeneration, Macular degeneration, Myoclonus,... OMIM:256730
Tremor, Hereditary Essential, 4
Postural tremor, Action tremor OMIM:614782
Spermatogenic Failure 46
Coiled sperm flagella, Reduced sperm motility, Irregularly shaped sperm tail, Short sperm flagell... OMIM:619095
Spermatogenic Failure 41
Immotile sperm, Oligospermia, Short sperm flagella, Male infertility, Tapered sperm head OMIM:618670
Male Infertility Due To Acephalic Spermatozoa
Reduced sperm motility, Oligospermia, Acephalic spermatozoa, Male infertility, Abnormal sperm mid... ORPHA:529970
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Sensorineural hearing impairment, Male infertility, Immotile sperm, Abnormal sperm morphology OMIM:608653
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities
Cataract, Rod-cone dystrophy OMIM:300719
Spermatogenic Failure 11
Oligospermia, Abnormal sperm morphology, Male infertility, Reduced sperm motility OMIM:615081
Intellectual Developmental Disorder, Autosomal Recessive 58
Motor stereotypy, Spastic diplegia, Choreoathetosis OMIM:617270
Pendred Syndrome
Sensorineural hearing impairment, Ataxia, Thyroid carcinoma, Hypoplasia of the cochlea, Hypothyro... ORPHA:705
Spermatogenic Failure 7
Oligospermia, Immotile sperm, Male infertility, Reduced sperm motility OMIM:612997
Hyperleucine-Isoleucinemia
Sensorineural hearing impairment, Failure to thrive, Retinal degeneration OMIM:238340
Ceroid Lipofuscinosis, Neuronal, 5
Ataxia, Clumsiness, Abnormal nervous system electrophysiology, Retinal degeneration, Dysmetria, M... OMIM:256731
Spermatogenic Failure 43
Coiled sperm flagella, Reduced sperm motility, Male infertility, Absent sperm axoneme central pai... OMIM:618751
Mental Retardation, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome
Truncal obesity, Cataract, Childhood-onset truncal obesity, Retinal dystrophy OMIM:610156
Spermatogenic Failure 49
Coiled sperm flagella, Reduced sperm motility, Short sperm flagella, Male infertility, Absent spe... OMIM:619144
Spermatogenic Failure 45
Coiled sperm flagella, Reduced sperm motility, Short sperm flagella, Male infertility, Absent spe... OMIM:619094
Retinitis Pigmentosa Inversa With Deafness
Sensorineural hearing impairment, Retinitis pigmentosa inversa, External genital hypoplasia, Rod-... OMIM:268010
Spermatogenic Failure 42
Microcephalic sperm head, Coiled sperm flagella, Reduced sperm motility, Short sperm flagella, Ma... OMIM:618745
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct
Sensorineural hearing impairment, Goiter, Incomplete partition of the cochlea type II, Enlarged v... OMIM:600791
Pituitary Hormone Deficiency, Combined Or Isolated, 7
Abdominal obesity, Postnatal growth retardation, Truncal obesity, Short stature OMIM:618160
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Large for gestational age, Hyperactivity ORPHA:356996
Birdshot Chorioretinopathy
Photoreceptor layer loss on macular OCT, Abnormal retinal vascular morphology, Macular hole, Cyst... ORPHA:179
Ravine Syndrome
Failure to thrive, Ataxia, Decreased body weight, Atrophy/Degeneration affecting the brainstem, S... ORPHA:99852
Autosomal Dominant Spastic Ataxia Type 1
Hypertonia, Limb ataxia, Impaired vibration sensation in the lower limbs, Babinski sign, Jerky he... ORPHA:251282
Bardet-Biedl Syndrome 18
Obesity, Cataract, Rod-cone dystrophy, Retinal dystrophy OMIM:615995
X-Linked Retinoschisis
Cataract, Retinoschisis ORPHA:792
Spinocerebellar Ataxia, Autosomal Recessive 24
Spastic gait, Gait ataxia, Cataract, Limb ataxia OMIM:617133
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Motor stereotypy, Tremor, Ataxia OMIM:617862
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness
Cataract, Chorioretinal coloboma OMIM:274205
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency
Limb ataxia, Truncal ataxia, Head tremor, Difficulty walking, Type I diabetes mellitus, Unsteady ... ORPHA:412057
Chorea, Benign Familial
Chorea OMIM:215450
Spermatogenic Failure 70
Azoospermia, Oligospermia, Male infertility, Reduced sperm motility OMIM:619828
Developmental And Epileptic Encephalopathy 58
Motor stereotypy, Inability to walk, Spastic diplegia, Optic atrophy, Hypsarrhythmia OMIM:617830
Liberfarb Syndrome
Sensorineural hearing impairment, Retinal degeneration, Retinal pigment epithelial mottling, Opti... OMIM:618889
Spermatogenic Failure 64
Reduced progressive sperm motility, Abnormal sperm head morphology, Oligospermia, Male infertility OMIM:619696
Wagner Vitreoretinopathy
Exudative vitreoretinopathy, Peripheral tractional retinal detachment, Chorioretinal atrophy, Vit... OMIM:143200
Insulin-Like Growth Factor I Deficiency
Osteopenia, Decreased body weight, Hyperactivity OMIM:608747
Developmental And Epileptic Encephalopathy 97
Tremor, Stereotypical hand wringing OMIM:619561
Ocular Motor Apraxia
Oculomotor apraxia, Jerky head movements OMIM:257550
Thyrocerebroretinal Syndrome
Sensorineural hearing impairment, Ataxia, Myoclonus, Goiter, Slurred speech OMIM:274240
Fetal Iodine Deficiency Disorder
Spastic diplegia, Hearing impairment, Congenital hypothyroidism, Congenital goiter OMIM:228355
Spastic Ataxia 2, Autosomal Recessive
Dysmetria, Babinski sign, Head titubation, Frequent falls, Tremor, Gait ataxia, Spasticity, Fasci... OMIM:611302
Spermatogenic Failure 1
Cryptozoospermia, Oligospermia, Male infertility OMIM:258150
N-Acetylaspartate Deficiency
Motor stereotypy, Truncal ataxia OMIM:614063
Foveal Hypoplasia-Presenile Cataract Syndrome
Optic atrophy, Cataract ORPHA:2253
Thyrocerebrorenal Syndrome
Sensorineural hearing impairment, Euthyroid goiter, Myoclonus, Nonprogressive cerebellar ataxia, ... ORPHA:3327
Morbid Obesity And Spermatogenic Failure
Infertility, Type II diabetes mellitus, Oligospermia, Myocardial infarction, Azoospermia, Obesity... OMIM:615703
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
Spermatogenic Failure 48
Spermatogenesis maturation arrest, Oligospermia, Azoospermia, Male infertility OMIM:619108
Huntington Disease-Like 1
Cerebral cortical atrophy, Clumsiness, Poor fine motor coordination, Dysmetria, Bradykinesia, EEG... ORPHA:157941
Hsd10 Mitochondrial Disease
Sensorineural hearing impairment, Cerebral cortical atrophy, Retinal degeneration, Abnormal mitoc... OMIM:300438
Retinal Dystrophy With Or Without Extraocular Anomalies
Premature ovarian insufficiency, Goiter, Secondary amenorrhea, Retinal dystrophy OMIM:617175
Developmental And Epileptic Encephalopathy 28
Retinal degeneration, Cerebral atrophy, Rigidity, Optic atrophy, Spasticity OMIM:616211
Spastic Paraplegia 11, Autosomal Recessive
Spastic gait, Ataxia, Cerebral cortical atrophy, Retinal degeneration, Macular degeneration, Impa... OMIM:604360
Retinitis Pigmentosa 36
Macular degeneration, Rod-cone dystrophy, Attenuation of retinal blood vessels, Optic disc pallor... OMIM:610599
Leber Congenital Amaurosis 19
Optic disc pallor, Attenuation of retinal blood vessels, Retinal degeneration OMIM:618513
Spermatogenic Failure 24
Coiled sperm flagella, Reduced sperm motility, Microcephalic sperm head, Short sperm flagella, Ta... OMIM:617959
Bardet-Biedl Syndrome 4
External genital hypoplasia, Retinal degeneration, Rod-cone dystrophy, Hypogonadism, Obesity, Cry... OMIM:615982
Ceroid Lipofuscinosis, Neuronal, 6A
Abnormal nervous system electrophysiology, Retinal degeneration, Increased neuronal autofluoresce... OMIM:601780
Thyroid Hormone Resistance, Generalized, Autosomal Recessive
Type II diabetes mellitus, Impaired sensitivity to thyroid hormone, Small for gestational age, Co... OMIM:274300
Spondylometaphyseal Dysplasia, Axial
Retinal degeneration, Rod-cone dystrophy, Reduced sperm motility, Cone/cone-rod dystrophy, Optic ... OMIM:602271
Autosomal Dominant Cerebellar Ataxia
Paraparesis, Progressive cerebellar ataxia, Retinal degeneration, Macular degeneration, Chorea, T... ORPHA:99
Deafness, Autosomal Recessive 104
Absent brainstem auditory responses, Positive Romberg sign, Prelingual sensorineural hearing impa... OMIM:616515
Bardet-Biedl Syndrome 2
External genital hypoplasia, Retinal degeneration, Rod-cone dystrophy, Dilated cardiomyopathy, Hy... OMIM:615981
Brain-Lung-Thyroid Syndrome
Ataxia, Chorea, Falls, Hypoparathyroidism, Intention tremor, Congenital hypothyroidism, Pulmonary... ORPHA:209905
Retinitis Pigmentosa 84
Macular coloboma, Cataract, Rod-cone dystrophy, Macular atrophy OMIM:618220
Spermatogenic Failure 25
Azoospermia, Cryptozoospermia, Decreased testicular size OMIM:617960
Developmental And Epileptic Encephalopathy 107
Motor stereotypy OMIM:620033
Diabetes And Deafness, Maternally Inherited
Sensorineural hearing impairment, Type II diabetes mellitus, Retinal degeneration, Pigmentary ret... OMIM:520000
Spermatogenic Failure 2
Abnormal circulating luteinizing hormone concentration, Abnormal circulating follicle-stimulating... OMIM:108420
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Motor stereotypy, Ataxia OMIM:618709
Spermatogenic Failure 8
Azoospermia, Oligospermia, Cryptozoospermia OMIM:613957
Spinocerebellar Ataxia 7
Progressive cerebellar ataxia, Dysmetria, Macular degeneration, Babinski sign, Pigmentary retinop... OMIM:164500
Spermatogenic Failure 22
Cryptozoospermia, Male infertility, Non-obstructive azoospermia OMIM:617706
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures
Motor stereotypy, Ataxia, Poor coordination, Chorea, Paroxysmal dyskinesia OMIM:619150
Congenital Hypothyroidism
Abnormality of the thyroid gland, Thyroid dysgenesis, Arrhythmia, Anterior hypopituitarism, Hypot... ORPHA:442
Intellectual Developmental Disorder, Autosomal Recessive 37
Hyperactivity OMIM:615493
Benign Paroxysmal Torticollis Of Infancy
Torticollis, Ataxia, Abnormal head movements ORPHA:71518
Encephalopathy With Intracranial Calcification, Growth Hormone Deficiency, Microcephaly, And Retinal Degeneration
Ataxia, Retinal degeneration, Decreased response to growth hormone stimulation test, Spasticity OMIM:225755
X-Linked Intellectual Disability, Stocco Dos Santos Type
Hyperactivity, Cataract, Small for gestational age ORPHA:85288
Exudative Vitreoretinopathy 6
Exudative vitreoretinopathy, Posterior vitreous detachment, Chorioretinal atrophy, Retinal detach... OMIM:616468
Coats Disease
Abnormal retinal vascular morphology, Abnormal anterior chamber morphology, Abnormal macular morp... ORPHA:190
Non-Specific Early-Onset Epileptic Encephalopathy
Failure to thrive, Ataxia, Cerebral atrophy, Brain atrophy, Retinal degeneration, Limb hypertonia... ORPHA:442835
Thiamine-Responsive Megaloblastic Anemia Syndrome
Sensorineural hearing impairment, Ataxia, Retinal degeneration, Arrhythmia, Cone/cone-rod dystrop... OMIM:249270
Spermatogenic Failure 38
Coiled sperm flagella, Reduced sperm motility, Abnormal axonemal organization of respiratory moti... OMIM:618433
Retinoschisis 1, X-Linked, Juvenile
Vitreous hemorrhage, Retinal degeneration, Retinal detachment, Retinal pigment epithelial atrophy... OMIM:312700
Macular Degeneration, Age-Related, 13
Macular scar, Choroidal neovascularization, Macular degeneration, Drusen OMIM:615439
Progressive Supranuclear Palsy-Corticobasal Syndrome
Parkinsonism with favorable response to dopaminergic medication, Progressive extrapyramidal muscu... ORPHA:240103
Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination
Motor stereotypy, Spasticity OMIM:617393
Optic Atrophy 3, Autosomal Dominant
Optic atrophy, Optic disc pallor, Cataract OMIM:165300
Corneal Dystrophy, Groenouw Type I
Nodular corneal dystrophy, Granular corneal dystrophy, Cataract, Punctate corneal dystrophy OMIM:121900
Cone-Rod Dystrophy 16
Rod-cone dystrophy, Attenuation of retinal blood vessels, Cone/cone-rod dystrophy, Optic disc pal... OMIM:614500
Fragile X Syndrome
Periventricular heterotopia, Recurrent hand flapping, Macrotia, Macroorchidism, postpubertal, Abn... OMIM:300624
Mucolipidosis Iv
Retinal degeneration, Babinski sign, Optic atrophy, Spastic tetraplegia, Cerebellar atrophy, Hype... OMIM:252650
Alg6-Cdg
Failure to thrive, Ataxia, Retinal degeneration, Rod-cone dystrophy, Low-set ears, Puberty and go... ORPHA:79320
Ciliary Dyskinesia, Primary, 37
Hypothyroidism, Hearing impairment, Goiter, Infertility OMIM:617577
Auditory Neuropathy, Autosomal Dominant 1
Sensorineural hearing impairment, Abnormal speech discrimination, Absence of acoustic reflex, Abn... OMIM:609129
Intellectual Developmental Disorder, X-Linked 109
Recurrent hand flapping, Stereotypical body rocking, Poor coordination OMIM:309548
Cortical Dysplasia, Complex, With Other Brain Malformations 2
Motor stereotypy, Hypertonia, Spastic tetraplegia OMIM:615282
Autism, Susceptibility To, X-Linked 2
Motor stereotypy OMIM:300495
Episodic Ataxia Type 4
Frequent falls, Incoordination, Ataxia, Abnormal head movements ORPHA:79136
Iris Pigment Layer, Cleavage Of
Peripheral retinal detachment, Cataract OMIM:147610
Spermatogenic Failure 21
Acephalic spermatozoa, Infertility, Reduced sperm motility OMIM:617644
Spermatogenic Failure 16
Acephalic spermatozoa, Infertility, Reduced sperm motility OMIM:617187
Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity
Postnatal growth retardation, Intrauterine growth retardation, Pancytopenia OMIM:600546
Sorsby Pseudoinflammatory Fundus Dystrophy
Abnormal fundus autofluorescence imaging, Subretinal deposits, Yellow/white lesions of the macula... ORPHA:59181
Retinitis Pigmentosa 40
Bone spicule pigmentation of the retina, Cataract, Attenuation of retinal blood vessels, Rod-cone... OMIM:613801
Stargardt Disease 1
Retinitis pigmentosa inversa, Bull's eye maculopathy, Macular degeneration OMIM:248200
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Abnormal autonomic nervous system physiology, Cerebral vasculitis, Myoclonus, Hypothyroidism, Has... ORPHA:83601
Fraxe Intellectual Disability
Clumsiness, Recurrent hand flapping, Stereotypical body rocking ORPHA:100973
Developmental And Epileptic Encephalopathy 30
Motor stereotypy OMIM:616341
Bangstad Syndrome
Progressive cerebellar ataxia, Small for gestational age, Insulin-resistant diabetes mellitus, Pr... OMIM:210740
Retinoschisis, Autosomal Dominant
Abnormality of macular pigmentation, Peripheral retinal degeneration, Retinoschisis OMIM:180270
Spermatogenic Failure 44
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:619044
Autosomal Recessive Ataxia Due To Pex10 Deficiency
Diffuse cerebellar atrophy, Type II diabetes mellitus, Progressive cerebellar ataxia, Limb ataxia... ORPHA:247815
Spermatogenic Failure 35
Infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella OMIM:618341
Spermatogenic Failure 33
Infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella OMIM:618152
Spermatogenic Failure 34
Infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella OMIM:618153
Spermatogenic Failure 18
Infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella OMIM:617576
Spermatogenic Failure 19
Infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella OMIM:617592
Macular Dystrophy, Retinal, 1, North Carolina Type
Abnormality of macular pigmentation, Macular dystrophy, Peripheral retinal atrophy, Drusen OMIM:136550
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Broad-based gait, Motor stereotypy, Optic atrophy, Tremor, Spastic tetraparesis, Simplified gyral... OMIM:619470
Spermatogenic Failure 20
Male infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella OMIM:617593
Photomyoclonus, Diabetes Mellitus, Deafness, Nephropathy, And Cerebral Dysfunction
Ataxia, Cochlear degeneration, Diabetes mellitus, Slowed slurred speech, Progressive sensorineura... OMIM:172500
Juvenile Neuronal Ceroid Lipofuscinosis
Motor stereotypy, Loss of ambulation, Clumsiness, Cerebral atrophy, Poor fine motor coordination,... ORPHA:79264
Adult-Onset Autosomal Dominant Leukodystrophy
Ataxia, Impotence, Orthostatic hypotension, Babinski sign, Autonomic bladder dysfunction, Tremor,... ORPHA:99027
Megalocornea
Lens subluxation, Mosaic corneal dystrophy, Megalocornea, Retinal detachment, Astigmatism, Iridod... OMIM:309300
Macular Dystrophy, Retinal, 2
Perifoveal ring of hyperautofluorescence, Macular dystrophy, Granular macular appearance, Retinal... OMIM:608051
Opticocochleodentate Degeneration
Optic atrophy, Hearing impairment, Cochlear degeneration, Spastic tetraplegia OMIM:258700
Retinitis Pigmentosa 32
Photoreceptor layer loss on macular OCT, Retinal degeneration, Attenuation of retinal blood vesse... OMIM:609913
Isolated Follicle Stimulating Hormone Deficiency
Testicular atrophy, Decreased serum testosterone concentration, Azoospermia, Delayed menarche, Hy... ORPHA:52901
Peripheral Cone Dystrophy
Optic atrophy, Optic disc pallor, Cone/cone-rod dystrophy, Peripheral retinal degeneration OMIM:609021
Obesity, Hyperphagia, And Developmental Delay
Motor stereotypy OMIM:613886
Guanidinoacetate Methyltransferase Deficiency
Ataxia, Chorea, Progressive extrapyramidal movement disorder, Athetosis, Abnormal head movements,... ORPHA:382
Deafness-Hypogonadism Syndrome
Conductive hearing impairment, Stapes ankylosis, Abnormality of the middle ear ossicles, Heteroch... ORPHA:90646
Exudative Vitreoretinopathy 7
Retinal degeneration, Vitreoretinopathy, Retinal hole OMIM:617572
Familial Exudative Vitreoretinopathy
Vitreous hemorrhage, Reduced bone mineral density, Rhegmatogenous retinal detachment, Peripheral ... ORPHA:891
Cataract 21, Multiple Types
Cerulean cataract, Retinal detachment, Microcornea, Cortical pulverulent cataract, Iris coloboma,... OMIM:610202
Ceroid Lipofuscinosis, Neuronal, 10
Neuronal loss in central nervous system, Ataxia, Cerebral atrophy, Rod-cone dystrophy, Rigidity, ... OMIM:610127
Retinitis Pigmentosa 9
Rod-cone dystrophy, Macular edema, Cataract, Macular atrophy, Bone spicule pigmentation of the re... OMIM:180104
Deafness, Autosomal Recessive 9
Sensorineural hearing impairment, Absent brainstem auditory responses, Absence of acoustic reflex OMIM:601071
Stickler Syndrome Type 2
Corneal opacity, Retinopathy, Retinal detachment, Cataract, Abnormal vitreous humor morphology ORPHA:90654
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Retinal detachment, Retinal dystrophy, Iris coloboma, Cataract, Macular atrophy, Chorioretinal co... OMIM:212550
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Decreased thyroid-stimulating hormone level, Hyperthyroidism, Periodic paralysis, Tachycardia, Tr... OMIM:613239
Cowden Syndrome 5
Hydrocele testis, Hyperthyroidism, Ovarian cyst, Intention tremor, Hypothyroidism, Hearing impair... OMIM:615108
Familial Thyroid Dyshormonogenesis
Sensorineural hearing impairment, Thyroid defect in oxidation and organification of iodide, Decre... ORPHA:95716
Tsh-Secreting Pituitary Adenoma
Supraventricular arrhythmia, Impotence, Central adrenal insufficiency, Decreased fertility in mal... ORPHA:91347
Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy
Abnormal calcium-phosphate regulating hormone level, Precocious puberty, Hyperthyroidism, Abnorma... ORPHA:457059
Immunodeficiency 15A
Decreased proportion of CD8-positive T cells, Cutaneous abscess, Decreased proportion of CD4-posi... OMIM:618204
Cowden Syndrome 6
Hydrocele testis, Hyperthyroidism, Ovarian cyst, Intention tremor, Hypothyroidism, Hearing impair... OMIM:615109
Jeavons Syndrome
EEG with focal spikes, EEG with photoparoxysmal response, EEG with hyperventilation-induced epile... ORPHA:139431
Bothnia Retinal Dystrophy
Increased OCT-measured foveal thickness, Retinal degeneration, Macular degeneration, Abnormal fov... ORPHA:85128
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive
Motor stereotypy, Involuntary movements, Spasticity OMIM:617820
Charcot-Marie-Tooth Disease, Demyelinating, Type 1H
Distal sensory impairment, Macular degeneration OMIM:619764
Spermatogenic Failure 30
Azoospermia, Cryptozoospermia OMIM:618110
Mohr-Tranebjaerg Syndrome
Sensorineural hearing impairment, Absent brainstem auditory responses, Postlingual sensorineural ... ORPHA:52368
Vitreoretinal Degeneration, Snowflake Type
Retinal detachment, Optically empty vitreous, Cataract, Snowflake vitreoretinal degeneration, Cor... OMIM:193230
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Hyperactivity ORPHA:436151
Neurodevelopmental Disorder With Hypotonia And Autistic Features With Or Without Hyperkinetic Movements
Stereotypical hand wringing, Chorea OMIM:618760
Thyroid Dyshormonogenesis 3
Increased T3/T4 ratio, Goiter, Compensated hypothyroidism, Thyroid carcinoma OMIM:274700
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome
Progressive cerebellar ataxia, Spinocerebellar atrophy, Impaired vibration sensation in the lower... ORPHA:95433
Hyperprolinemia, Type I
Motor stereotypy, Ataxia OMIM:239500
Autosomal Dominant Optic Atrophy Plus Syndrome
Sensorineural hearing impairment, Absent brainstem auditory responses, Ataxia, Temporal optic dis... ORPHA:1215
Macular Dystrophy, Vitelliform, 2
Cystoid macular degeneration, Macular dystrophy, Subretinal fluid OMIM:153700
Chromosome 3Q29 Deletion Syndrome
Motor stereotypy, Failure to thrive, Small for gestational age, Gait ataxia, Macrotia, Low-set ea... OMIM:609425
Usher Syndrome, Type Iv
Sensorineural hearing impairment, Retinal degeneration, Retinal atrophy, Bone spicule pigmentatio... OMIM:618144
Permanent Congenital Hypothyroidism
Thyroid dysgenesis, Goiter, Tetraplegia, Hypothyroidism ORPHA:226292
Metaphyseal Dysplasia, Anetoderma, And Optic Atrophy
Optic atrophy, Cranial nerve compression, Macular atrophy OMIM:250450
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Distal sensory impairment, Abnormal auditory evoked po... OMIM:601382
Graves Disease, Susceptibility To, 1
Decreased thyroid-stimulating hormone level, Graves disease, Increased circulating free T3, Weigh... OMIM:275000
Retinitis Pigmentosa 48
Rod-cone dystrophy, Macular degeneration OMIM:613827
Severe Intellectual Disability-Progressive Postnatal Microcephaly-Midline Stereotypic Hand Movements Syndrome
Hyperkinetic movements, Stereotypical hand wringing ORPHA:397933
Spermatogenic Failure 3
Male infertility, Reduced sperm motility OMIM:606766
Spermatogenic Failure, Y-Linked, 1
Male infertility, Reduced sperm motility OMIM:400042
Spermatogenic Failure 55
Male infertility, Reduced sperm motility OMIM:619380
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Ataxia, Optic atrophy, Gait disturbance, Spasticity, Abnormal auditory evoked potentials, Progres... OMIM:125250
Hypocalcemia, Autosomal Dominant 2
Postnatal growth retardation OMIM:615361
Adult Krabbe Disease
Hemiplegia, Broad-based gait, Ataxia, Clumsiness, Acroparesthesia, EEG abnormality, Hoffmann sign... ORPHA:206448
Myopia, High, With Cataract And Vitreoretinal Degeneration
Retinal detachment, Lens subluxation, Cataract, Peripheral vitreoretinal degeneration OMIM:614292
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Motor stereotypy, Ataxia, Bradykinesia, Resting tremor, Intention tremor, Myoclonus, Parkinsonism... OMIM:619725
Growth Retardation, Small And Puffy Hands And Feet, And Eczema
Postnatal growth retardation, Intrauterine growth retardation OMIM:233810
Cochleosaccular Degeneration-Cataract Syndrome
Ataxia, Cochlear degeneration, Progressive sensorineural hearing impairment ORPHA:3233
Retinitis Pigmentosa 70
Optic disc pallor, Retinal degeneration, Rod-cone dystrophy OMIM:615922
Macular Degeneration, Age-Related, 3
Decreased nerve conduction velocity, Macular degeneration, Distal sensory impairment, Choroidal n... OMIM:608895
Hsd10 Disease, Infantile Type
Loss of ambulation, Cerebral atrophy, Retinal degeneration, Poor coordination, Rod-cone dystrophy... ORPHA:391428
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Sensorineural hearing impairment, Ataxia, Cerebral atrophy, Brain atrophy, Retinal degeneration, ... OMIM:619260
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Hyperthyroidism, Periodic paralysis, Palpitations, Tachycardia, Weight loss, Goiter OMIM:188580
Huntington Disease-Like 3
Broad-based gait, Cerebral cortical atrophy, Extrapyramidal muscular rigidity, Extrapyramidal dys... ORPHA:157946
Late-Onset Retinal Degeneration
Sub-RPE deposits, Retinopathy, Retinal degeneration, Rod-cone dystrophy OMIM:605670
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia
Motor stereotypy, Babinski sign, Spasticity OMIM:612069
Macular Degeneration, Early-Onset
Choroidal neovascularization, Macular degeneration OMIM:616118
Spinocerebellar Ataxia, Autosomal Recessive 3
Hearing impairment, Cochlear degeneration, Ataxia OMIM:271250
Microphthalmia, Isolated 5
Foveoschisis, Cystoid macular edema, Abnormal foveal morphology, Rod-cone dystrophy, Optic disc d... OMIM:611040
Late Infantile Neuronal Ceroid Lipofuscinosis
Motor stereotypy, EEG with photoparoxysmal response, Ataxia, Cortical myoclonus, Inability to wal... ORPHA:168491
Autosomal Recessive Spastic Paraplegia Type 44
Sensorineural hearing impairment, Abnormality of somatosensory evoked potentials, Ataxia, Abnorma... ORPHA:320401
Maffucci Syndrome
Pituitary adenoma, Ovarian neoplasm, Parathyroid adenoma, Cerebral palsy, Neoplasm of the adrenal... ORPHA:163634
Thyroid Hormone Resistance, Generalized, Autosomal Dominant
Goiter, Increased circulating free T3, Impaired sensitivity to thyroid hormone OMIM:188570
Thyroid Cancer, Nonmedullary, 1
Goiter, Papillary thyroid carcinoma, Non-medullary thyroid carcinoma OMIM:188550
Exudative Vitreoretinopathy 4
Subcapsular cataract, Exudative vitreoretinopathy, Vitreous hemorrhage, Posterior vitreous detach... OMIM:601813
Retinitis Pigmentosa 37
Cystoid macular degeneration, Cataract, Pigmentary retinopathy, Rod-cone dystrophy OMIM:611131
Intellectual Developmental Disorder And Retinitis Pigmentosa
Peripapillary atrophy, Optic disc pallor, Cataract, Macular degeneration OMIM:618195
X-Linked Neurodegenerative Syndrome, Bertini Type
Ataxia, Macular degeneration ORPHA:85334
Familial Male-Limited Precocious Puberty
Precocious puberty, Oligospermia, Long penis, Male infertility, Macroorchidism ORPHA:3000
Stargardt Disease 4
Macular degeneration, Retinal flecks OMIM:603786
Ectopia Lentis Et Pupillae
Retinal detachment, Cataract, Ectopia lentis, Persistent pupillary membrane OMIM:225200
47,Xyy Syndrome
Increased serum testosterone level, Low-set ears, Congenital stationary night blindness, Cryptorc... ORPHA:8
Flynn-Aird Syndrome
Ataxia, Increased bone mineral density, Rod-cone dystrophy, Osteoporosis, Cataract, Increased bon... OMIM:136300
Baker-Gordon Syndrome
Motor stereotypy, Ataxia, Hyperkinetic movements, Choreoathetosis, Involuntary movements OMIM:618218
Severe Neurodevelopmental Disorder With Feeding Difficulties-Stereotypic Hand Movement-Bilateral Cataract
Failure to thrive, Cerebral atrophy, Stereotypical hand wringing, Spasticity, Hypsarrhythmia ORPHA:500545
Intellectual Developmental Disorder, X-Linked 101
Optic atrophy, Hyperactivity OMIM:300928
Cholestasis With Gallstone, Ataxia, And Visual Disturbance
Optic atrophy, Cholelithiasis, Ataxia, Retinal degeneration OMIM:214980
Cowden Syndrome 1
Hydrocele testis, Hyperthyroidism, Ovarian cyst, Intention tremor, Hypothyroidism, Hearing impair... OMIM:158350
Autosomal Recessive Non-Syndromic Intellectual Disability
Motor stereotypy, Cerebral atrophy, EEG with focal epileptiform discharges, Chorea, EEG with gene... ORPHA:88616
Cataract, Microcephaly, Failure To Thrive, Kyphoscoliosis Syndrome
Failure to thrive, Cataract, Arthrogryposis multiplex congenita, Small for gestational age OMIM:212540
Microcephaly, Seizures, And Developmental Delay
Ataxia, Hyperactivity OMIM:613402
Macular Dystrophy, Retinal, 3
Macular drusen, Retinal pigment epithelial atrophy OMIM:608850
Dentici-Novelli Neurodevelopmental Syndrome
Motor stereotypy, Hypertonia, Precocious puberty, Inability to walk, Hypsarrhythmia, Macrotia, Si... OMIM:619877
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Retinopathy, Microcornea, Optic atrophy, Optic disc pallor, Cataract, Macular atrophy OMIM:616171
Retinal Degeneration And Epilepsy
Retinal degeneration OMIM:267740
Cataract-Microcornea Syndrome
Corneal opacity, Microcornea, Iris coloboma, Cataract, Corneal dystrophy ORPHA:1377
Spermatogenic Failure 10
Infertility, Abnormal sperm morphology OMIM:614822
Retinitis Pigmentosa 31
Attenuation of retinal blood vessels, Rod-cone dystrophy, Retinal pigment epithelial atrophy OMIM:609923
Familial Papillary Or Follicular Thyroid Carcinoma
Follicular thyroid carcinoma, Goiter, Papillary thyroid carcinoma, Nodular goiter ORPHA:319487
Thyroid Dyshormonogenesis 5
Hypothyroidism, Goiter OMIM:274900
Thyroid Dyshormonogenesis 4
Hypothyroidism, Goiter OMIM:274800
Cone-Rod Dystrophy 22
Perifoveal ring of hyperautofluorescence, Absent foveal reflex, Hypoautofluorescent retinal lesio... OMIM:619531
Microspherophakia With Hernia
Microspherophakia, Superior lens subluxation, Retinal detachment, Inguinal hernia OMIM:157150
Spermatogenic Failure 36
Male infertility, Abnormal sperm morphology OMIM:618420
Senior-Loken Syndrome
Ataxia, Abnormality of retinal pigmentation, Abnormality of bone mineral density, Retinal dystrop... ORPHA:3156
Retinitis Pigmentosa 33
Rod-cone dystrophy, Attenuation of retinal blood vessels, Retinal pigment epithelial atrophy, Opt... OMIM:610359
Retinal Cone Dystrophy 1
Bull's eye maculopathy, Retinal degeneration, Cone/cone-rod dystrophy OMIM:180020
Leber Congenital Amaurosis 2
Absent foveal reflex, Attenuation of retinal blood vessels, Pigmentary retinopathy, Fundus atroph... OMIM:204100
Late-Infantile/Juvenile Krabbe Disease
Hemiplegia, EEG with persistent abnormal rhythmic activity, Ataxia, Upper motor neuron dysfunctio... ORPHA:206443
Retinitis Pigmentosa 38
Optic disc pallor, Peripheral retinal atrophy, Rod-cone dystrophy, Macular atrophy OMIM:613862
Lead Poisoning
Infertility, Poor gross motor coordination, Decreased male libido, Poor fine motor coordination, ... ORPHA:330015
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Motor stereotypy, Decreased response to growth hormone stimulation test, Micropenis, Hyperkinetic... ORPHA:457240
Pontocerebellar Hypoplasia, Type 11
Motor stereotypy, Broad-based gait, Ataxia, Decreased body weight, Inability to walk, Limb ataxia... OMIM:617695
Brunet-Wagner Neurodevelopmental Syndrome
Optic atrophy, Motor stereotypy, Cerebral atrophy, Cerebellar atrophy OMIM:619690
Immunodeficiency 48
Failure to thrive, Absence of CD8-positive T cells, Splenomegaly OMIM:269840
Autosomal Dominant Progressive External Ophthalmoplegia
Facial diplegia, Ataxia, Tremor, Cogwheel rigidity, Reduced left ventricular ejection fraction, A... ORPHA:254892
Thyroid Dyshormonogenesis 2A
Hypothyroidism, Thyroid defect in oxidation and organification of iodide, Goiter OMIM:274500
Pediatric-Onset Graves Disease
Failure to thrive, Graves disease, Sinus tachycardia, Increased circulating free T3, Palpitations... ORPHA:525731
Stargardt Macular Degeneration, Absent Or Hypoplastic Corpus Callosum, Mental Retardation, And Dysmorphic Facial Features
Large earlobe, Sensorineural hearing impairment, Macular degeneration OMIM:612948
Retinitis Pigmentosa 11
Perifoveal ring of hyperautofluorescence, Rod-cone dystrophy, Macular degeneration, Macular edema... OMIM:600138
Oculorenocerebellar Syndrome
Spastic diplegia, Choreoathetosis, Retinal degeneration OMIM:257970
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Retinal degeneration OMIM:251700
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
Cone-Rod Dystrophy 5
Macular degeneration OMIM:600977
Mitochondrial Dna Depletion Syndrome 14 (Cardioencephalomyopathic Type)
Sensorineural hearing impairment, Hypertonia, Retinal degeneration, Opisthotonus, Hypertrophic ca... OMIM:616896
Macular Degeneration, Age-Related, 15
Macular degeneration OMIM:615591
Ogden Syndrome
Torticollis, Hypertonia, Cryptorchidism, Cerebral atrophy, Arrhythmia, Cardiogenic shock, Shuffli... ORPHA:276432
Macular Degeneration, X-Linked Atrophic
Macular degeneration OMIM:300834
Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability
Gait disturbance, Cataract, Tip-toe gait, Increased adipose tissue OMIM:617404
Developmental And Epileptic Encephalopathy 26
Stereotypical hand wringing OMIM:616056
Functioning Gonadotropic Adenoma
Impotence, Ovarian cyst, Central diabetes insipidus, Enlarged polycystic ovaries, Pituitary gonad... ORPHA:91348
Anterior Segment Dysgenesis 8
Microphakia, Ectopia pupillae, Uveal ectropion, Optic nerve dysplasia, Hypoplasia of the iris, Ca... OMIM:617319
Bardet-Biedl Syndrome 1
Gait imbalance, Ataxia, Retinal degeneration, Attenuation of retinal blood vessels, Retinal dystr... OMIM:209900
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay
Cataract, Developmental cataract OMIM:613076
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities
Motor stereotypy, Stereotypical hand wringing, Chorea, Gait ataxia, Spasticity OMIM:618917
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Abnormality of retinal pigmentation, Retinal detachment, Retinal dystrophy, Optic disc pallor, Ca... OMIM:251270
Bardet-Biedl Syndrome 17
Retinal degeneration, Rod-cone dystrophy, Poor coordination, Micropenis, Macular atrophy, Cone/co... OMIM:615994
Aceruloplasminemia
Torticollis, Ataxia, Blepharospasm, Retinal degeneration, Chorea, Cogwheel rigidity, Diabetes mel... OMIM:604290
Leber Congenital Amaurosis With Early-Onset Deafness
Retinal degeneration OMIM:617879
Adrenal Hypoplasia, Congenital
Adrenal insufficiency, Failure to thrive, Decreased circulating aldosterone level, Precocious pub... OMIM:300200
Anaplastic Thyroid Carcinoma
Anaplastic thyroid carcinoma, Weight loss, Nodular goiter, Goiter, Vocal cord paralysis ORPHA:142
Adult-Onset Autosomal Recessive Cerebellar Ataxia
Progressive cerebellar ataxia, Limb ataxia, Dysmetria, Intention tremor, Ankle clonus, Macular de... ORPHA:284289
Myxedema
Hypothyroidism, Elevated circulating thyroid-stimulating hormone concentration, Paresthesia, Goiter OMIM:255900
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Sensorineural hearing impairment, Absent brainstem auditory responses, EEG abnormality, Choreoath... OMIM:617519
Retinopathy, Pericentral Pigmentary, Dominant
Retinopathy, Attenuation of retinal blood vessels, Pigmentary retinopathy, Retinal dystrophy, Ret... OMIM:180210
Refsum Disease, Classic
Sensorineural hearing impairment, Ataxia, Retinal degeneration, Rod-cone dystrophy, Arrhythmia, S... OMIM:266500
Goiter, Multinodular 1, With Or Without Sertoli-Leydig Cell Tumors
Euthyroid multinodular goiter, Papillary thyroid carcinoma OMIM:138800
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Large fleshy ears, Hypertonia, Ataxia, Motor stereotypy, Brain atrophy, Overfolded helix, Myoclon... OMIM:619092
Thyroid Cancer, Nonmedullary, 4
Goiter, Non-medullary thyroid carcinoma OMIM:616534
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Hyperthyroidism, Small for gestational age, Activating thyroid-stimulating hormone receptor defec... ORPHA:424
Leber Congenital Amaurosis 8
Chorioretinal atrophy, Nummular pigmentation of the fundus, Pigmentary retinopathy, Choriocapilla... OMIM:613835
Foxg1 Syndrome
Motor stereotypy, Decreased body weight, Inability to walk, Myoclonus, Hyperkinetic movements, St... ORPHA:561854
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Gait disturbance, Inability to walk, Hyperactivity, Dysmetria OMIM:618090
Ectodermal Dysplasia, Hypohidrotic, With Hypothyroidism And Agenesis Of The Corpus Callosum
Primary hypothyroidism, Goiter OMIM:225040
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Abnormal sperm tail morphology, Non-obstructive azoospermia, Globozoospermia, Abnormal spermatoge... ORPHA:399808
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia
Nodular goiter, Goiter, Papillary thyroid carcinoma ORPHA:97290
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Attention deficit hyperactivity disorder, Hyperactivity OMIM:617182
Aceruloplasminemia
Torticollis, Ataxia, Abnormal pancreas morphology, Blepharospasm, Retinal degeneration, Limb atax... ORPHA:48818
Optic Atrophy 8
Sensorineural hearing impairment, Prolonged somatosensory evoked potentials, Mitral regurgitation... OMIM:616648
48,Xxyy Syndrome
Motor stereotypy, Infertility, Ataxia, Type II diabetes mellitus, Hypoplasia of penis, Hypergonad... ORPHA:10
Retinitis Pigmentosa 4
Cataract, Pigmentary retinopathy, Rod-cone dystrophy OMIM:613731
Mccune-Albright Syndrome
Increased serum testosterone level, Precocious puberty, Abnormal endocrine physiology, Abnormalit... ORPHA:562
Combined Immunodeficiency, X-Linked
Decreased proportion of CD8-positive T cells, Decreased proportion of CD4-positive helper T cells OMIM:312863
Leukoencephalopathy With Dystonia And Motor Neuropathy
Torticollis, Hypergonadotropic hypogonadism, Intention tremor, Abnormal motor neuron morphology, ... OMIM:613724
Autism Spectrum Disorder Due To Auts2 Deficiency
Motor stereotypy, Hypertonia, Cryptorchidism, Small for gestational age, Cerebral palsy, Spastici... ORPHA:352490
Deiodinase, iodothyronine, type I
Goiter, Euthyroid hyperthyroxinemia OMIM:147892
Thyroid Hormone Plasma Membrane Transport Defect
Goiter, Euthyroid hyperthyroxinemia OMIM:188560
Intellectual Developmental Disorder, Autosomal Recessive 73
Recurrent hand flapping, Poor coordination, Gait ataxia, Low-set ears, Posteriorly rotated ears OMIM:619717
Smith-Magenis Syndrome
Motor stereotypy, Abnormality of the thyroid gland, EEG abnormality, Increased body weight, Retin... OMIM:182290
Growth Hormone Deficiency, Isolated Partial
Postnatal growth retardation, Short stature OMIM:615925
Cataract 9, Multiple Types
Progressive cataract, Microcornea, Iris coloboma, Cataract, Developmental cataract OMIM:604219
Glutaric Aciduria Iii
Failure to thrive, Goiter, Hypertension, Hyperthyroidism OMIM:231690
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7
Motor stereotypy, Myoclonus, Babinski sign, Rigidity OMIM:600795
Silver-Russell Syndrome Due To 11P15 Microduplication
Severe intrauterine growth retardation, Failure to thrive, Short stature, Small for gestational a... ORPHA:231144
Charcot-Marie-Tooth Disease Type 1F
Sensorineural hearing impairment, Absent brainstem auditory responses, Cervical spinal cord atrop... ORPHA:101085
Retinal Dystrophy And Obesity
Retinal detachment, Retinal dystrophy, Retinal pigment epithelial atrophy, Obesity, Peripapillary... OMIM:616188
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Motor stereotypy, Inability to walk, EEG abnormality, Brain atrophy, Tremor, Spasticity, Low-set ... OMIM:618718
Pyruvate Dehydrogenase E2 Deficiency
Choreoathetosis, Oculomotor apraxia, Ataxia, Jerky head movements OMIM:245348
Alstrom Syndrome
Hyperinsulinemia, Congestive heart failure, Decreased response to growth hormone stimulation test... OMIM:203800
Severe Intellectual Disability And Progressive Spastic Paraplegia
Motor stereotypy, Cerebral cortical atrophy, Babinski sign, Spastic dysarthria, Difficulty walkin... ORPHA:280763
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Corneal opacity, Retinal detachment, Posterior embryotoxon, Optic atrophy, Iris coloboma, Catarac... ORPHA:1473
Chromosome Xq21 Deletion Syndrome
Conductive hearing impairment, Choroideremia, Chorioretinal atrophy, Incomplete partition of the ... OMIM:303110
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Decreased circulating T4 concentration, Congenital hypothyroidism, Large for gestational age, Ele... ORPHA:226313
Rhabdomyosarcoma, Embryonal, 2
Ovarian thecoma, Multinodular goiter, Thyroid nodule, Goiter OMIM:180295
Central Areolar Choroidal Dystrophy
Perifoveal ring of hyperautofluorescence, Full-thickness macular hole, Absent retinal pigment epi... ORPHA:75377
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Optic atrophy, Cataract, Retinal dysplasia, Flexion contracture OMIM:613154
Usher Syndrome Type 1
Sensorineural hearing impairment, Ataxia, Cerebral cortical atrophy, Vestibular hypofunction, Iri... ORPHA:231169
Exudative Vitreoretinopathy 1
Subcapsular cataract, Exudative vitreoretinopathy, Vitreous hemorrhage, Posterior vitreous detach... OMIM:133780
Xq21 Microdeletion Syndrome
Sensorineural hearing impairment, Stapes ankylosis, Conductive hearing impairment, Ataxia, Choroi... ORPHA:1435
Intellectual Developmental Disorder With Cardiac Arrhythmia
Sick sinus syndrome, Arrhythmia, Retinal degeneration, Bradycardia OMIM:617173
Leber Congenital Amaurosis 9
Retinal pigment epithelial mottling, Macular coloboma, Attenuation of retinal blood vessels, Opti... OMIM:608553
Achondrogenesis Type 2
Abnormal bone ossification, Lens subluxation, Delayed proximal femoral epiphyseal ossification, R... ORPHA:93296
Familial Gestational Hyperthyroidism
Hyperthyroidism, Hand tremor, Activating thyroid-stimulating hormone receptor defect, Weight loss... ORPHA:99819
8p23.1 deletion syndrome
Hyperactivity, Congenital diaphragmatic hernia DECIPHER:39
Central Retinal Vein Occlusion
Cystoid macular edema, Macular degeneration, Papilledema, Macular edema, Retinal neovascularizati... ORPHA:411527
Charcot-Marie-Tooth Disease, Type 4C
Axonal degeneration, Decreased motor nerve conduction velocity, Facial palsy, Distal sensory impa... OMIM:601596
Spinocerebellar Ataxia 32
Infertility, Testicular atrophy, Ataxia, Cerebellar atrophy, Azoospermia OMIM:613909
Ciliary Dyskinesia, Primary, 41
Infertility, Immotile sperm, Recurrent otitis media OMIM:618449
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Non-obstructive azoospermia, Decreased testicular size, Abnormal spermatogenesis, Azoospermia, In... ORPHA:399805
Autism, Susceptibility To, 3
Motor stereotypy OMIM:608049
Retinitis Pigmentosa 13
Cystoid macular edema, Retinal degeneration, Rod-cone dystrophy, Hypopigmentation of the fundus OMIM:600059
Cone-Rod Dystrophy 11
Macular atrophy, Bull's eye maculopathy, Macular degeneration, Cone/cone-rod dystrophy OMIM:610381
Spinocerebellar Ataxia Type 32
Testicular atrophy, Progressive cerebellar ataxia, Male infertility, Cerebellar atrophy, Azoospermia ORPHA:276183
Spastic Paraplegia 15, Autosomal Recessive
Ataxia, Retinal degeneration, Macular degeneration, Babinski sign, Spastic paraplegia, Paraplegia... OMIM:270700
Developmental And Epileptic Encephalopathy 43
Attention deficit hyperactivity disorder, Ataxia, Hyperactivity OMIM:617113
Intellectual Disability-Cataracts-Kyphosis Syndrome
Failure to thrive, Iris coloboma, Cataract, Elbow flexion contracture, Knee flexion contracture ORPHA:171860
Isolated Thyroid-Stimulating Hormone Deficiency
Decreased thyroid-stimulating hormone level, Failure to thrive, Decreased circulating T4 concentr... ORPHA:90674
Sporadic Adult-Onset Ataxia Of Unknown Etiology
Ataxia, Akinesia, Abnormal autonomic nervous system physiology, Resting tremor, Intention tremor,... ORPHA:247234
Branchiootorenal Syndrome 1
Sensorineural hearing impairment, Conductive hearing impairment, Euthyroid goiter, Microtia, Dila... OMIM:113650
Dihydropyrimidine Dehydrogenase Deficiency
Optic atrophy, Failure to thrive, Hyperactivity OMIM:274270
New-Onset Refractory Status Epilepticus
EEG with spike-wave complexes, EEG with generalized epileptiform discharges, EEG with frontal epi... ORPHA:363558
Intellectual Developmental Disorder, Autosomal Dominant 7
Motor stereotypy, Abnormal pinna morphology, Cerebral cortical atrophy, Ataxia, Small for gestati... OMIM:614104
Exfoliation Syndrome
Lens subluxation, Anisocoria, Mydriasis, Pseudoexfoliation, Cataract, Phakodonesis, Pigment depos... OMIM:177650
Leber Congenital Amaurosis 1
Sensorineural hearing impairment, Attenuation of retinal blood vessels, Pigmentary retinopathy, F... OMIM:204000
Pick Disease Of Brain
Motor stereotypy OMIM:172700
Best Vitelliform Macular Dystrophy
Cystoid macular degeneration, Choroideremia ORPHA:1243
Multiple Endocrine Neoplasia Type 1
Increased serum serotonin, Pituitary growth hormone cell adenoma, Thymoma, Melena, Impotence, Int... ORPHA:652
Intellectual Developmental Disorder, Autosomal Dominant 67
Attention deficit hyperactivity disorder, Hyperactivity, Astigmatism OMIM:619927
Peroxisome Biogenesis Disorder 8B
Failure to thrive, Ataxia, Dysmetria, Retinal dystrophy, Optic atrophy, Cataract OMIM:614877
Exudative Vitreoretinopathy 2, X-Linked
Exudative vitreoretinopathy, Shallow anterior chamber, Peripheral retinal avascularization, Falci... OMIM:305390
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features
Motor stereotypy, Speech apraxia OMIM:613670
Intellectual Developmental Disorder, X-Linked 104
Optic atrophy, Ataxia, Hyperactivity OMIM:300983
Familial Drusen
Perifoveal ring of hyperautofluorescence, Granular macular appearance, Abnormality of retinal pig... ORPHA:75376
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome
Failure to thrive, Abnormality of the ear, EEG abnormality, Oromotor apraxia, Hypothyroidism, Hyp...