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Gene: Hsd17b4 MGI:105089

Gene Summary

Name:

hydroxysteroid (17-beta) dehydrogenase 4

Synonyms:

Mfp-2, D-bifunctional protein, MFE-2, 17[b]-HSD, perMFE-2, MFP2, multifunctional protein 2

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
Viability Data

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	Allele	Zyg	Life Stage	P Value
enlarged heart	Hsd17b4^em1(IMPC)Tcp	HET	Late adult	0.00
small uterus	Hsd17b4^em1(IMPC)Tcp	HOM	Early adult	0.00
abnormal iris morphology	Hsd17b4^em1(IMPC)Tcp	HOM	Early adult	1.80×10^-05
abnormal tooth morphology	Hsd17b4^em1(IMPC)Tcp	HOM	Early adult	1.02×10^-06
abnormal spleen morphology	Hsd17b4^em1(IMPC)Tcp	HOM	Early adult	0.00
abnormal auditory brainstem response	Hsd17b4^em1(IMPC)Tcp	HOM	Early adult	0.0766
irregularly shaped pupil	Hsd17b4^em1(IMPC)Tcp	HOM	Early adult	4.13×10^-06
preweaning lethality, incomplete penetrance	Hsd17b4^em1(IMPC)Tcp	HOM	Early adult	0.00
decreased circulating aspartate transaminase level	Hsd17b4^em1(IMPC)Tcp	HET	Late adult	6.54×10^-05
cataract	Hsd17b4^em1(IMPC)Tcp	HOM	Early adult	5.89×10^-05
increased grip strength	Hsd17b4^em1(IMPC)Tcp	HET	Middle aged adult	1.58×10^-05
abnormal embryo size	Hsd17b4^em1(IMPC)Tcp	HOM	E18.5	0.00
small uterus	Hsd17b4^em1(IMPC)Tcp	HET	Late adult	0.00
limb grasping	Hsd17b4^em1(IMPC)Tcp	HOM	Early adult	1.41×10^-08
enlarged adrenal glands	Hsd17b4^em1(IMPC)Tcp	HOM	Early adult	0.00
enlarged urinary bladder	Hsd17b4^em1(IMPC)Tcp	HET	Late adult	0.00
abnormal seminal vesicle morphology	Hsd17b4^em1(IMPC)Tcp	HET	Late adult	0.00
abnormal sternum morphology	Hsd17b4^em1(IMPC)Tcp	HOM	Early adult	0.00
abnormal eye morphology	Hsd17b4^em1(IMPC)Tcp	HOM	Early adult	0.00
abnormal gait	Hsd17b4^em1(IMPC)Tcp	HOM	Early adult	1.41×10^-08

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lacZ Expression

Expression data not available

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 Whole Body Lateral Orientation

10 Images

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Histopathology

Images

17 Images

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Histopathology

Images

12 Images

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X-ray

XRay Images Skull Lateral Orientation

15 Images

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Eye Morphology

Images Ophthalmoscopy

177 Images

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Eye Morphology

Images Slit Lamp

25 Images

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X-ray

XRay Images Skull Lateral Orientation

10 Images

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Gross Morphology Embryo E18.5

Images

4 Images

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Gross Pathology and Tissue Collection

Images

15 Images

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X-ray

XRay Images Whole Body Lateral Orientation

15 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

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X-ray

XRay Images Whole Body Dorso Ventral

15 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

15 Images

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Combined SHIRPA and Dysmorphology

Images

1 Images

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Eye Morphology

Images Ophthalmoscopy

3 Images

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Gross Pathology and Tissue Collection

Images

7 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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Eye Morphology

Images Slit Lamp

4 Images

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MicroCT E18.5

Embryo reconstruction

6 Images

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Immunophenotyping

Panel B FCS file(s)

6 Images

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Immunophenotyping

Panel A FCS file(s)

6 Images

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Human diseases caused by Hsd17b4 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.

Human diseases associated with Hsd17b4 (2 diseases)
Human diseases predicted to be associated with Hsd17b4 (1226 diseases)

The table below shows human diseases associated to Hsd17b4 by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Perrault Syndrome 1		Gonadal dysgenesis, Cerebellar atrophy, Gait ataxia, Intention tremor, Short stature, Ataxia, Pri...	OMIM:233400
D-Bifunctional Protein Deficiency		Gliosis, Cerebellar atrophy, Bile duct proliferation, Corpus callosum atrophy, Failure to thrive,...	OMIM:261515

The table below shows human diseases predicted to be associated to Hsd17b4 by phenotypic similarity.

Disease	Matching phenotypes	Source
Congenital Cataracts, Facial Dysmorphism, And Neuropathy	Cerebral atrophy, Babinski sign, Peripheral hypomyelination, Axonal degeneration, Chorea, Microco...	OMIM:604168
Familial Infantile Bilateral Striatal Necrosis	Spastic tetraparesis, Gait ataxia, Rigidity, Ataxia, Dysphagia, Myoclonus, Atrophy/Degeneration i...	ORPHA:225154
Classic Galactosemia	Delayed puberty, Incoordination, Abnormal erythrocyte enzyme concentration or activity, Action tr...	ORPHA:79239
Behavioral Variant Of Frontotemporal Dementia	Frontotemporal cerebral atrophy, Inappropriate behavior, Irritability, Emotional blunting, Restri...	ORPHA:275864
Inherited Creutzfeldt-Jakob Disease	Amyloidosis of peripheral nerves, Spastic hemiparesis, Progressive extrapyramidal muscular rigidi...	ORPHA:282166
Ethanolaminosis	Cardiomegaly	OMIM:227150
Spastic Paraparesis-Deafness Syndrome	Impaired pain sensation, Gait disturbance, Short stature, Hemiplegia/hemiparesis, Ataxia, Hypogon...	ORPHA:2815
Neuropathy, Hereditary Motor And Sensory, Okinawa Type	Distal sensory impairment, Axonal degeneration, Fasciculations, Gliosis, Tetraplegia, Hyperlipide...	OMIM:604484
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7	Inappropriate behavior, Babinski sign, Neuronal loss in central nervous system, Astrocytosis, Myo...	OMIM:600795
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1	Tip-toe gait, Babinski sign, Difficulty walking, Distal sensory impairment, Axonal degeneration, ...	OMIM:302800
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia	Limb ataxia, Distal sensory impairment, Oculomotor apraxia, Axonal degeneration, Truncal ataxia, ...	OMIM:208920
Cardiomyopathy, Dilated, 1I	Cardiomegaly, Dilated cardiomyopathy, Elevated circulating creatine kinase concentration	OMIM:604765
Autosomal Recessive Spastic Paraplegia Type 46	Cerebellar atrophy, Corpus callosum atrophy, Ataxia, Babinski sign, Difficulty walking, Broad-bas...	ORPHA:320391
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness	Abnormal antihelix morphology, Hearing impairment, Short thumb, Chorioretinal coloboma, Cataract,...	OMIM:274205
Spastic Paraparesis And Deafness	Tremor, Short stature, Hypogonadism, Cataract, Spastic paraparesis	OMIM:312910
Sporadic Creutzfeldt-Jakob Disease	Cerebral atrophy, Babinski sign, Akinetic mutism, Abnormality of extrapyramidal motor function, N...	ORPHA:204
Progressive Non-Fluent Aphasia	Frontotemporal cerebral atrophy, Senile plaques, Apraxia, Depression, Abnormality of extrapyramid...	ORPHA:100070
Spinocerebellar Ataxia, Autosomal Recessive 16	Limb ataxia, Babinski sign, Truncal ataxia, Spasticity, Tremor, Cerebellar atrophy, Unsteady gait...	OMIM:615768
Charcot-Marie-Tooth Disease, Axonal, Type 2P	Tip-toe gait, Steppage gait, Distal sensory impairment, Axonal degeneration, Fasciculations, Impa...	OMIM:614436
Developmental And Epileptic Encephalopathy 40	Spasticity, Spastic tetraparesis, Intrauterine growth retardation, Cerebral cortical atrophy, Myo...	OMIM:617065
Homocystinuria Without Methylmalonic Aciduria	Cerebral cortical atrophy, Failure to thrive, Vomiting, Ataxia, Lethargy	ORPHA:622
Partial Chromosome Y Deletion	Male infertility, Abnormal spermatogenesis, Oligozoospermia, Decreased testicular size, Non-obstr...	ORPHA:1646
46,Xy Sex Reversal 3	Gonadal dysgenesis, Clitoral hypertrophy, Penoscrotal hypospadias, Exaggerated rugosity of the la...	OMIM:612965
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome	Anorexia, Irritability, Abnormal fear-induced behavior, Lower limb spasticity, Broad-based gait, ...	ORPHA:3077
Leukoencephalopathy With Vanishing White Matter 1	Optic atrophy, Premature ovarian insufficiency, Decreased circulating progesterone, Secondary ame...	OMIM:603896
Spermatogenic Failure 35	Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Absent sperm f...	OMIM:618341
Isochromosomy Yp	Male infertility, Azoospermia, Decreased testicular size, Ambiguous genitalia, Primary gonadal in...	ORPHA:98797
Spermatogenic Failure, X-Linked, 6	Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Abnormal male ...	OMIM:301101
Glut1 Deficiency Syndrome 1	Babinski sign, Paroxysmal dystonia, Spasticity, Hemiparesis, Ataxia, Myoclonus, Paralysis, Choreo...	OMIM:606777
Spermatogenic Failure 72	Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Reduced progre...	OMIM:619867
Spermatogenic Failure 34	Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Reduced sperm ...	OMIM:618153
Spermatogenic Failure 25	Male infertility, Decreased testicular size, Cryptozoospermia, Non-obstructive azoospermia, Sperm...	OMIM:617960
Autosomal Recessive Dopa-Responsive Dystonia	Bradykinesia, Irritability, Babinski sign, Generalized dystonia, Oculogyric crisis, Abnormality o...	ORPHA:101150
Spinocerebellar Ataxia 43	Limb ataxia, Distal sensory impairment, Cerebellar vermis atrophy, Tremor, Gait ataxia, Rigidity,...	OMIM:617018
Atypical Pantothenate Kinase-Associated Neurodegeneration	Chorea, Impulsivity, Limb dystonia, Rigidity, Dysphagia, Clumsiness, Optic atrophy, Irritability,...	ORPHA:216873
Autoimmune Polyendocrinopathy Type 1	Abnormal circulating calcium-phosphate regulating hormone concentration, Hypoparathyroidism, Adre...	ORPHA:3453
Spermatogenic Failure 20	Short sperm flagella, Male infertility, Absent sperm flagella, Coiled sperm flagella	OMIM:617593
Isochromosomy Yq	Male infertility, Azoospermia, Decreased testicular size, Varicocele, Ambiguous genitalia, Primar...	ORPHA:98798
Spermatogenic Failure, X-Linked, 5	Short sperm flagella, Male infertility, Reduced sperm motility, Reduced progressive sperm motilit...	OMIM:301099
Spermatogenic Failure 57	Decreased testicular size, Male infertility, Non-obstructive azoospermia, Spermatogenesis maturat...	OMIM:619528
Pupillary Membrane, Persistence Of	Developmental cataract, Persistent pupillary membrane, Megalocornea	OMIM:178900
Mitochondrial Complex I Deficiency, Nuclear Type 5	Optic atrophy, Irritability, Babinski sign, Episodic vomiting, Brain atrophy, Cerebellar atrophy,...	OMIM:618226
Classic Glucose Transporter Type 1 Deficiency Syndrome	Hypertonia, Apraxia, Chorea, Spasticity, Hemiparesis, Dystonia, Ataxia, Extrapyramidal dyskinesia...	ORPHA:71277
Spermatogenic Failure 33	Short sperm flagella, Male infertility, Reduced sperm motility, Absent sperm flagella, Irregularl...	OMIM:618152
Spermatogenic Failure 37	Short sperm flagella, Male infertility, Reduced sperm motility, Absent sperm flagella, Irregularl...	OMIM:618429
Spermatogenic Failure 18	Short sperm flagella, Male infertility, Reduced sperm motility, Absent sperm flagella, Irregularl...	OMIM:617576
Spermatogenic Failure 46	Short sperm flagella, Male infertility, Reduced sperm motility, Absent sperm flagella, Irregularl...	OMIM:619095
Spermatogenic Failure 27	Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Reduced sperm ...	OMIM:617965
Spermatogenic Failure 65	Short sperm flagella, Male infertility, Oligozoospermia, Abnormal sperm mid-piece morphology, Red...	OMIM:619712
Developmental And Epileptic Encephalopathy 92	Difficulty walking, Inability to walk, Spasticity, Dystonia, Ataxia, Myoclonus, Lethargy	OMIM:617829
Spermatogenic Failure 84	Short sperm flagella, Male infertility, Oligozoospermia, Reduced sperm motility, Reduced progress...	OMIM:620409
Acrodermatitis Enteropathica, Zinc-Deficiency Type	Irritability, Diarrhea, Emotional lability, Tremor, Decreased testicular size, Failure to thrive,...	OMIM:201100
Spermatogenic Failure 30	Male infertility, Azoospermia, Spermatogenesis maturation arrest, Cryptozoospermia, Cryptorchidism	OMIM:618110
Isolated Atp Synthase Deficiency	Optic atrophy, Tetraplegia, Cerebellar atrophy, Cerebral cortical atrophy, Hypothyroidism, Spasti...	ORPHA:254913
Dihydropyrimidine Dehydrogenase Deficiency	Cerebral atrophy, Optic atrophy, Hypertonia, Hyperactivity, Tetraplegia, Growth delay, Failure to...	OMIM:274270
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Rocker bottom foot, Delayed puberty, Abnormal female external genitalia morphology, Abnormal ovar...	ORPHA:95699
Spermatogenic Failure 63	Decreased testicular size, Male infertility, Oligozoospermia, Reduced progressive sperm motility	OMIM:619689
De Sanctis-Cacchione Syndrome	Cerebral atrophy, Optic atrophy, Global brain atrophy, Hypertonia, Babinski sign, Scissor gait, A...	OMIM:278800
Severe Canavan Disease	Optic atrophy, Irritability, Babinski sign, Inability to walk, Oral-pharyngeal dysphagia, Gastroe...	ORPHA:314911
Spinocerebellar Ataxia Type 32	Male infertility, Progressive cerebellar ataxia, Azoospermia, Cerebellar atrophy, Testicular atrophy	ORPHA:276183
Spermatogenic Failure 32	Male infertility, Sertoli cell-only phenotype, Non-obstructive azoospermia	OMIM:618115
Spermatogenic Failure 71	Male infertility, Sertoli cell-only phenotype, Non-obstructive azoospermia	OMIM:619831
Spermatogenic Failure 50	Decreased testicular size, Male infertility, Spermatogenesis maturation arrest, Azoospermia	OMIM:619145
4H Leukodystrophy	Optic atrophy, Delayed puberty, Decreased response to growth hormone stimulation test, Abnormalit...	ORPHA:289494
Charcot-Marie-Tooth Disease, Type 4C	Difficulty walking, Distal sensory impairment, Axonal degeneration, Abnormal cranial nerve morpho...	OMIM:601596
Charcot-Marie-Tooth Disease Type 2B1	Steppage gait, Distal sensory impairment, Inability to walk, Axonal degeneration, Sensory axonal ...	ORPHA:98856
Spermatogenic Failure 43	Male infertility, Absent sperm axoneme central pair complex, Reduced sperm motility, Coiled sperm...	OMIM:618751
Spermatogenic Failure 19	Short sperm flagella, Male infertility, Reduced sperm motility, Coiled sperm flagella, Absent spe...	OMIM:617592
Spermatogenic Failure 82	Short sperm flagella, Male infertility, Coiled sperm flagella, Reduced progressive sperm motility...	OMIM:620353
Spermatogenic Failure 49	Short sperm flagella, Male infertility, Reduced sperm motility, Coiled sperm flagella, Absent spe...	OMIM:619144
Spermatogenic Failure 45	Short sperm flagella, Male infertility, Reduced sperm motility, Coiled sperm flagella, Absent spe...	OMIM:619094
Anterior Segment Dysgenesis 8	Microphakia, Iris transillumination defect, Iridodonesis, Optic nerve dysplasia, Corneal stromal ...	OMIM:617319
Spermatogenic Failure 56	Short sperm flagella, Male infertility, Oligozoospermia, Reduced sperm motility, Reduced progress...	OMIM:619515
Spinocerebellar Ataxia 32	Azoospermia, Infertility, Cerebellar atrophy, Ataxia, Testicular atrophy	OMIM:613909
Intellectual Developmental Disorder, X-Linked, Syndromic 13	Bradykinesia, Spastic gait, Babinski sign, Apraxia, Juvenile cataract, Bruxism, Emotional labilit...	OMIM:300055
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome	Spastic gait, Episodic vomiting, Impaired vibratory sensation, Truncal ataxia, Dysdiadochokinesis...	OMIM:238970
Intellectual Developmental Disorder, X-Linked 12	Hyperkinetic movements, Depression, Cerebellar vermis hypoplasia, Gliosis, Tremor, Spasticity, Ga...	OMIM:300957
Charcot-Marie-Tooth Disease, Type 4A	Inability to walk by childhood/adolescence, Distal sensory impairment, Hypertrophic nerve changes...	OMIM:214400
Spermatogenic Failure, X-Linked, 3	Short sperm flagella, Male infertility, Oligozoospermia, Reduced sperm motility, Absent sperm fla...	OMIM:301059
Mitochondrial Complex I Deficiency, Nuclear Type 3	Episodic vomiting, Abnormality of extrapyramidal motor function, Dystonia, Ataxia, Abnormal pyram...	OMIM:618224
Ring Chromosome Y Syndrome	Ambiguous genitalia, male, Gonadal dysgenesis, Abnormal spermatogenesis, Bifid scrotum, Abnormali...	ORPHA:261529
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type)	Difficulty walking, Distal sensory impairment, Peripheral axonal neuropathy, Paralysis, Lethargy	OMIM:613710
Spinocerebellar Ataxia 37	Tremor, Cerebellar atrophy, Frequent falls, Unsteady gait, Ataxia, Dysphagia	OMIM:615945
Cach Syndrome	Gonadal dysgenesis, Atrophy/Degeneration affecting the brainstem, Cerebellar atrophy, Dysphagia, ...	ORPHA:135
Mitochondrial Dna Depletion Syndrome 18	Falls, Axonal degeneration, Tongue fasciculations, Clonus, Failure to thrive, Microcytic anemia	OMIM:618811
Spermatogenic Failure 54	Short sperm flagella, Male infertility, Abnormal sperm axoneme morphology, Tapered sperm head, Ol...	OMIM:619379
Ovarian Dysgenesis 6	Hypoplasia of the uterus, Hypergonadotropic hypogonadism	OMIM:618078
Diethylstilbestrol Syndrome	Hypoplasia of the uterus, Hypospadias, Abnormal testis morphology, Vaginal neoplasm, Abnormality ...	ORPHA:1916
Spermatogenic Failure 40	Short sperm flagella, Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, C...	OMIM:618664
Charcot-Marie-Tooth Disease, Dominant Intermediate B	Distal sensory impairment, Axonal degeneration, Decreased number of peripheral myelinated nerve f...	OMIM:606482
Spermatogenic Failure 80	Short sperm flagella, Male infertility, Oligozoospermia, Reduced progressive sperm motility, Abse...	OMIM:620222
Spermatogenic Failure 76	Short sperm flagella, Male infertility, Oligozoospermia, Reduced sperm motility, Irregularly shap...	OMIM:620084
Spermatogenic Failure 83	Altered location of the longitudinal column in the fibrous sheath, Male infertility, Reduced sper...	OMIM:620354
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome	Impaired proprioception, Truncal titubation, Abnormal peripheral nerve morphology by anatomical s...	ORPHA:88628
Sim1-Related Prader-Willi-Like Syndrome	Small pituitary gland, Hypogonadism, Hypothalamic luteinizing hormone-releasing hormone deficienc...	ORPHA:398079
Spermatogenic Failure 42	Short sperm flagella, Male infertility, Microcephalic sperm head, Tapered sperm head, Reduced spe...	OMIM:618745
Spinocerebellar Ataxia, Autosomal Recessive 24	Cataract, Spastic gait, Limb ataxia, Gait ataxia	OMIM:617133
Spermatogenic Failure 39	Short sperm flagella, Male infertility, Tapered sperm head, Oligozoospermia, Reduced sperm motili...	OMIM:618643
Optic Atrophy 3, Autosomal Dominant	Optic atrophy, Tremor, Hearing impairment, Cataract, Optic disc pallor	OMIM:165300
Charcot-Marie-Tooth Disease, Axonal, Type 2S	Steppage gait, Distal sensory impairment, Gait disturbance, Axonal degeneration	OMIM:616155
Methylmalonic Acidemia With Homocystinuria, Type Cbld	Anorexia, Failure to thrive, Lethargy, Gait disturbance	ORPHA:79283
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)	Babinski sign, Depression, Neuronal loss in central nervous system, Emotional lability, Tremor, C...	OMIM:615362
Pontocerebellar Hypoplasia, Type 6	Cerebral atrophy, Gastroesophageal reflux, Lower limb spasticity, Cerebellar vermis hypoplasia, A...	OMIM:611523
Spermatogenic Failure 58	Short sperm flagella, Male infertility, Oligozoospermia, Reduced progressive sperm motility, Immo...	OMIM:619585
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset	Limb ataxia, Oculomotor apraxia, Dysdiadochokinesis, Tremor, Cerebellar atrophy, Gait disturbance...	OMIM:617145
Hemochromatosis, Type 2A	Azoospermia, Infertility, Splenomegaly, Amenorrhea, Hypogonadotropic hypogonadism, Lethargy	OMIM:602390
Peroxisome Biogenesis Disorder 8B	Cerebellar atrophy, Gait ataxia, Corpus callosum atrophy, Rigidity, Ataxia, Dysphagia, Tip-toe ga...	OMIM:614877
Testicular Agenesis	Hypoplasia of the uterus, Abnormal vas deferens morphology, Urogenital sinus anomaly, Urethrovagi...	ORPHA:325124
Encephalopathy, Progressive, With Or Without Lipodystrophy	Cerebral atrophy, Hypertriglyceridemia, Hyperactivity, Neuronal loss in central nervous system, S...	OMIM:615924
1Q21.1 Microduplication Syndrome	Hypertonia, Hypospadias, Gastroesophageal reflux, Attention deficit hyperactivity disorder, Failu...	ORPHA:250994
Short Syndrome	Abnormal anterior chamber morphology, Abnormal zygomatic bone morphology, Abnormal dental enamel ...	ORPHA:3163
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency	Delayed puberty, Ambiguous genitalia, male, Absence of secondary sex characteristics, Precocious ...	ORPHA:90793
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism	Optic atrophy, Delayed puberty, Babinski sign, Spasticity, Tremor, Cerebellar atrophy, Cerebral c...	OMIM:607694
Spermatogenic Failure 47	Short sperm flagella, Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella	OMIM:619102
Deafness-Infertility Syndrome	Male infertility, Abnormal sperm head morphology, Abnormal spermatogenesis, Reduced sperm motilit...	OMIM:611102
Spastic Paraplegia 46, Autosomal Recessive	Cerebral atrophy, Spastic gait, Babinski sign, Lower limb spasticity, Ankle clonus, Upper limb dy...	OMIM:614409
Glycine Encephalopathy 1	Irritability, Hyperactivity, Impulsivity, Restlessness, Myoclonus, Lethargy, Aggressive behavior	OMIM:605899
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome	Decreased response to growth hormone stimulation test, Hyperkinetic movements, Depression, Gliosi...	ORPHA:457240
Sandhoff Disease, Adult Form	Fasciculations, Sensory axonal neuropathy, Spasticity, Tremor, Gait ataxia, Focal dystonia, Dysto...	ORPHA:309169
Cerebrotendinous Xanthomatosis	Chronic diarrhea, Cerebellar atrophy, Ataxia, Aggressive behavior, Optic atrophy, Babinski sign, ...	ORPHA:909
Alpha-Methylacyl-Coa Racemase Deficiency	Depression, Spasticity, Tremor, Hypergonadotropic hypogonadism, Intention tremor, Hemiparesis, At...	OMIM:614307
Iris Pigment Epithelium Anomalies	Iris cyst	OMIM:601616
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities	Intermittent diarrhea, Hyperactivity, Tremor, Limb dystonia, Obesity, Ataxia, Intrauterine growth...	OMIM:620270
Persistent Mullerian Duct Syndrome, Types I And Ii	Male infertility, Decreased cirrculating antimullerian hormone circulation, Bilateral cryptorchidism	OMIM:261550
Spermatogenic Failure 78	Male infertility, Tapered sperm head, Microcephalic sperm head	OMIM:620170
Leukoencephalopathy, Brain Calcifications, And Cysts	Abnormality of extrapyramidal motor function, Spasticity, Tremor, Gait disturbance, Dystonia, Ata...	OMIM:614561
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	Peripheral hypomyelination, Chorea, Microcornea, Intrauterine growth retardation, Intention tremo...	ORPHA:48431
Premature Ovarian Failure 3	Hypoplasia of the uterus	OMIM:608996
Spermatogenic Failure 73	Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest	OMIM:619878
Spermatogenic Failure 59	Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest	OMIM:619645
Spermatogenic Failure 60	Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest	OMIM:619646
Spermatogenic Failure 74	Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest	OMIM:619937
2Q24 Microdeletion Syndrome	Low-set, posteriorly rotated ears, Short philtrum, Abnormality iris morphology, Bullet-shaped dis...	ORPHA:1617
Spermatogenic Failure 62	Male infertility, Spermatocyte maturation arrest, Non-obstructive azoospermia	OMIM:619673
Spermatogenic Failure 61	Male infertility, Spermatocyte maturation arrest, Non-obstructive azoospermia	OMIM:619672
Spermatogenic Failure 88	Male infertility, Spermatocyte maturation arrest, Non-obstructive azoospermia	OMIM:620547
Mitochondrial Complex I Deficiency, Nuclear Type 6	Optic atrophy, Brain atrophy, Vomiting, Failure to thrive, Ataxia, Abnormal pyramidal sign, Letha...	OMIM:618228
X-Linked Corneal Dermoid	Corneal opacity, Abnormal pupil morphology	ORPHA:1661
Intellectual Developmental Disorder With Ocular Anomalies And Distinctive Facial Features	Optic atrophy, Sensorineural hearing impairment, Iris cyst	OMIM:620086
Mitochondrial Complex Iii Deficiency, Nuclear Type 2	Incoordination, Cerebellar atrophy, Gait apraxia, Gait ataxia, Ataxia, Dysphagia, Aggressive beha...	OMIM:615157
Spermatogenic Failure 11	Abnormal sperm morphology, Male infertility, Oligozoospermia, Reduced sperm motility	OMIM:615081
Spermatogenic Failure 10	Abnormal sperm morphology, Male infertility, Oligozoospermia, Reduced sperm motility	OMIM:614822
Spinocerebellar Ataxia Type 38	Difficulty walking, Tremor, Cerebellar atrophy, Gait ataxia, Somatic sensory dysfunction	ORPHA:423296
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome	Gonadal dysgenesis, Abnormal female external genitalia morphology, Male hypogonadism, Abnormal va...	ORPHA:168563
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2	Cerebral atrophy, Irritability, Generalized dystonia, Episodic vomiting, Pancytopenia, Diarrhea, ...	OMIM:618321
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm	Male infertility, Abnormal sperm morphology, Immotile sperm	OMIM:608653
Woolly Hair Nevus	Persistent pupillary membrane, Heterochromia iridis, Precocious puberty, Widely-spaced incisors, ...	ORPHA:79414
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia	Hypoplasia of the ovary, Decreased testicular size, Micropenis, Cryptorchidism, Hypoplasia of the...	OMIM:614841
Riboflavin Transporter Deficiency	Diabetes insipidus, Abnormal cranial nerve morphology, Cachexia, Tremor, Facial palsy, Cerebral c...	ORPHA:97229
Magel2-Related Prader-Willi-Like Syndrome	Small pituitary gland, Increased body weight, Impulsivity, Hypogonadism, Hypothalamic luteinizing...	ORPHA:398069
Supranuclear Palsy, Progressive, 1	Bradykinesia, Cerebral atrophy, Senile plaques, Akinesia, Irritability, Gait imbalance, Falls, Ax...	OMIM:601104
Charcot-Marie-Tooth Disease Type 1B	Hearing impairment, Decreased nerve conduction velocity, Abnormal pupil morphology	ORPHA:101082
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1	Gastroparesis, Parkinsonism with favorable response to dopaminergic medication, Impaired distal v...	OMIM:157640
Basal Ganglia Disease, Biotin-Thiamine Responsive	Chorea, Gait ataxia, Action tremor, Rigidity, Opisthotonus, Dysphagia, Irritability, Hypertonia, ...	OMIM:607483
Premature Ovarian Failure 7	Gonadal dysgenesis, Clitoral hypertrophy, Elevated circulating follicle stimulating hormone level...	OMIM:612964
Spermatogenic Failure 79	Male infertility, Oligozoospermia, Coiled sperm flagella, Reduced sperm motility	OMIM:620196
Disordered Steroidogenesis Due To Cytochrome P450 Oxidoreductase Deficiency	Increased circulating ACTH level, Ambiguous genitalia, Congenital adrenal hyperplasia	OMIM:613571
Spinocerebellar Ataxia, Autosomal Recessive 4	Babinski sign, Torticollis, Fasciculations, Peripheral axonal neuropathy, Spasticity, Tremor, Cer...	OMIM:607317
Mitochondrial Complex I Deficiency, Nuclear Type 39	Perimembranous ventricular septal defect, Hypospadias, Hypertrophic cardiomyopathy, Cardiomegaly,...	OMIM:620135
Testicular Regression Syndrome	Abnormal male internal genitalia morphology, Aplasia/Hypoplasia of the testes, Hypoplasia of peni...	ORPHA:983
Male Infertility Due To Acephalic Spermatozoa	Male infertility, Acephalic spermatozoa, Oligozoospermia, Abnormal sperm mid-piece morphology, Re...	ORPHA:529970
Spinocerebellar Ataxia Type 31	Spasticity, Tremor, Cerebellar atrophy, Gait ataxia, Impaired vibratory sensation	ORPHA:217012
Spermatogenic Failure 41	Short sperm flagella, Male infertility, Tapered sperm head, Oligozoospermia, Immotile sperm	OMIM:618670
Spermatogenic Failure 48	Male infertility, Oligozoospermia, Spermatogenesis maturation arrest, Azoospermia	OMIM:619108
Oculodentodigital Dysplasia, Autosomal Recessive	2-4 toe cutaneous syndactyly, Hypoplasia of the primary teeth, Dental crowding, Persistent pupill...	OMIM:257850
Migraine, Familial Hemiplegic, 1	Agitation, Tremor, Cerebellar atrophy, Hemiparesis, Ataxia, Hemiplegia	OMIM:141500
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome	Cardiomegaly, Hypoalbuminemia	ORPHA:88643
Lipoid Congenital Adrenal Hyperplasia	Adrenogenital syndrome, Hypospadias, Congenital adrenal hyperplasia	OMIM:201710
Spermatogenic Failure 36	Male infertility, Abnormal sperm morphology	OMIM:618420
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency	Irritability, Truncal ataxia, Failure to thrive, Head titubation, Dystonia, Ataxia, Myoclonus, Le...	OMIM:250620
Maternal Uniparental Disomy Of Chromosome 6	Clitoral hypertrophy, Increased serum testosterone level, Slender long bone, Cleft upper lip, Cle...	ORPHA:96181
Adrenomyeloneuropathy	Spastic gait, Babinski sign, Adrenocortical abnormality, Erectile dysfunction, Distal sensory imp...	ORPHA:139399
Spinocerebellar Ataxia 38	Limb ataxia, Cerebellar vermis atrophy, Atrophy/Degeneration affecting the brainstem, Peripheral ...	OMIM:615957
Pyruvate Dehydrogenase E1-Alpha Deficiency	Cerebral atrophy, Tremor, Episodic ataxia, Dystonia, Myoclonus, Small for gestational age, Choreo...	OMIM:312170
Mitochondrial Complex I Deficiency, Nuclear Type 4	Brain atrophy, Spasticity, Vomiting, Ataxia, Myoclonus, Lethargy	OMIM:618225
Regional Odontodysplasia	Yellow-brown discoloration of the teeth, Eruption failure, Abnormality of primary teeth, Short de...	ORPHA:83450
Spermatogenic Failure 7	Male infertility, Oligozoospermia, Immotile sperm, Reduced sperm motility	OMIM:612997
Spinocerebellar Ataxia, Autosomal Recessive 2	Limb ataxia, Cerebellar vermis atrophy, Gliosis, Incoordination, Tremor, Spasticity, Gait ataxia,...	OMIM:213200
Mayer-Rokitansky-Kuster-Hauser Syndrome	Abnormal female external genitalia morphology, Aplasia of the upper vagina, Multicystic kidney dy...	OMIM:277000
Mitochondrial Complex Iii Deficiency, Nuclear Type 8	Cerebral atrophy, Babinski sign, Global brain atrophy, Anemia, Atrophy/Degeneration affecting the...	OMIM:615838
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies	Optic atrophy, Astigmatism, Sandal gap, Conical tooth, Oligodontia, Microdontia, Persistence of p...	OMIM:618727
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Cerebral atrophy, Normochromic anemia, Gastroesophageal reflux, Growth delay, Failure to thrive, ...	OMIM:614857
Cataract 50 With Or Without Glaucoma	Cataract, Persistent pupillary membrane	OMIM:620253
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency	Ambiguous genitalia, male, Clitoral hypertrophy, Increased circulating androstenedione concentrat...	ORPHA:90791
Spinocerebellar Ataxia 48	Irritability, Babinski sign, Depression, Chorea, Cachexia, Tremor, Cerebellar atrophy, Gait ataxi...	OMIM:618093
Short Chain Acyl-Coa Dehydrogenase Deficiency	Optic atrophy, Hypertonia, Failure to thrive, Dystonia, Intrauterine growth retardation, Lethargy	ORPHA:26792
Spermatogenic Failure 1	Male infertility, Oligozoospermia, Cryptozoospermia	OMIM:258150
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1	Axonal degeneration, Diaphragmatic paralysis, Intrauterine growth retardation, Constipation, Fail...	OMIM:604320
Spastic Paraplegia 78, Autosomal Recessive	Bradykinesia, Babinski sign, Distal sensory impairment, Falls, Resting tremor, Peripheral axonal ...	OMIM:617225
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia	Hypoplasia of the uterus, Azoospermia, Decreased testicular size, Cryptorchidism, Micropenis, Hyp...	OMIM:614837
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type	Cerebral atrophy, Diarrhea, Megaloblastic anemia, Spasticity, Gait disturbance, Vomiting, Failure...	OMIM:250940
Spermatogenic Failure 86	Male infertility, Abnormal sperm head morphology, Acephalic spermatozoa, Acrosomal hypoplasia, Ru...	OMIM:620499
Martsolf Syndrome 2	Brain atrophy, Decreased body weight, Short stature, Developmental cataract, Cataract, Hypogonado...	OMIM:619420
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy	Difficulty walking, Inability to walk, Diabetes insipidus, Astrocytosis, Slender build	OMIM:611087
Otodental Syndrome	Odontoma, Long philtrum, Taurodontia, Agenesis of premolar, Carious teeth, High-frequency sensori...	ORPHA:2791
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type	Delayed puberty, Hypospadias, Hyperactivity, Cerebellar vermis atrophy, Emotional lability, Tremo...	OMIM:300354
Methylmalonic Acidemia With Homocystinuria	Failure to thrive, Lethargy, Gait disturbance	ORPHA:26
Spinocerebellar Ataxia 40	Pontocerebellar atrophy, Broad-based gait, Dysdiadochokinesis, Tremor, Gait ataxia, Intention tre...	OMIM:616053
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome	Cataract, Aplasia/Hypoplasia of the iris, Corneal opacity, Persistent pupillary membrane	ORPHA:1067
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type	Cerebral atrophy, Normocytic anemia, Hypertonia, Hyperkinetic movements, Megaloblastic anemia, Ga...	OMIM:236270
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency	Adrenal hyperplasia, Adrenogenital syndrome, Hypospadias, Elevated circulating 21-deoxycortisol c...	OMIM:201910
Familial Hyperaldosteronism Type I	Dexamethasone-suppressible primary hyperaldosteronism, Abnormal circulating renin, Secretory adre...	ORPHA:403
Hjv Or Hamp-Related Hemochromatosis	Abnormality of endocrine pancreas physiology, Impotence, Hypogonadism, Diabetes mellitus, Lethargy	ORPHA:79230
Spermatogenic Failure 5	Male infertility, Macrozoospermia, Multiflagellar spermatozoa	OMIM:243060
Microcephaly-Microcornea Syndrome, Seemanova Type	Microcornea, Progressive spasticity, Growth delay, Short stature, Hypogonadism, Cataract	ORPHA:2528
Spinocerebellar Ataxia Type 37	Falls, Cerebellar vermis atrophy, Dysdiadochokinesis, Truncal ataxia, Tremor, Myoclonus, Gait dis...	ORPHA:363710
Familial Hyperaldosteronism Type Ii	Abnormal circulating renin, Secretory adrenocortical adenoma, Adrenal hyperplasia, Glucocortocoid...	ORPHA:404
Charcot-Marie-Tooth Disease, Axonal, Type 2R	Inability to walk, Broad-based gait, Axonal degeneration, Peripheral axonal neuropathy, Vocal cor...	OMIM:615490
Wolfram Syndrome 1	Cerebral atrophy, Optic atrophy, Diabetes insipidus, Megaloblastic anemia, Tremor, Hypothyroidism...	OMIM:222300
Amyotrophic Lateral Sclerosis 4, Juvenile	Babinski sign, Difficulty walking, Axonal degeneration, Atrophy of the spinal cord, Diffuse axona...	OMIM:602433
Exfoliation Syndrome	Mydriasis, Phakodonesis, Iris hypoperfusion, Anisocoria, Pigment deposition in the trabecular mes...	OMIM:177650
46,Xy Sex Reversal 7	Streak ovary, Abnormal epididymis morphology, Gonadoblastoma, Hypoplasia of the fallopian tube, G...	OMIM:233420
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 1	Inferior cerebellar vermis hypoplasia, Broad-based gait, Cerebellar ataxia associated with quadru...	OMIM:224050
Cyclic Vomiting Syndrome	Anorexia, Vomiting, Nausea, Growth delay, Ataxia, Attention deficit hyperactivity disorder, Lethargy	OMIM:500007
Autosomal Dominant Spastic Ataxia Type 1	Spastic gait, Limb ataxia, Babinski sign, Difficulty walking, Hypertonia, Spastic dysarthria, Low...	ORPHA:251282
Spermatogenic Failure 12	Infertility, Abnormal male germ cell morphology, Azoospermia	OMIM:615413
Spinocerebellar Ataxia Type 12	Bradykinesia, Cerebral atrophy, Tremor by anatomical site, Poor fine motor coordination, Cerebell...	ORPHA:98762
Ovarian Dysgenesis 2	Streak ovary, Hypoplasia of the uterus, Hypergonadotropic hypogonadism	OMIM:300510
Spermatogenic Failure 22	Male infertility, Cryptozoospermia, Non-obstructive azoospermia	OMIM:617706
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6	Axonal degeneration, Peripheral axonal neuropathy, Diaphragmatic paralysis, Craniofacial dystonia...	OMIM:620011
Doors Syndrome	Aplasia/Hypoplasia of the phalanges of the 2nd toe, Broad alveolar ridges, Abnormal finger morpho...	ORPHA:79500
Fragile X Tremor/Ataxia Syndrome	Cerebellar atrophy, Impotence, Bowel incontinence, Gait ataxia, Action tremor, Impaired distal vi...	OMIM:300623
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions	Inappropriate behavior, Depression, Chorea, Tremor, Upper motor neuron dysfunction, Rigidity, Dys...	ORPHA:401901
Hypothyroidism, Congenital, Nongoitrous, 7	Reduced TSH response to thyrotrophin-releasing hormone stimulation test, Growth delay, Short stat...	OMIM:618573
Spinal And Bulbar Muscular Atrophy, X-Linked 1	Fasciculations, Tremor, Dysphagia, Decreased fertility, Testicular atrophy	OMIM:313200
Spermatogenic Failure 21	Acephalic spermatozoa, Male infertility, Reduced sperm motility	OMIM:617644
Spermatogenic Failure 16	Acephalic spermatozoa, Male infertility, Reduced sperm motility	OMIM:617187
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2	Global brain atrophy, Aplasia of the inferior half of the cerebellar vermis, Atrophy of the denta...	OMIM:610185
Proteus-Like Syndrome	Mandibular prognathia, Open bite, Heterochromia iridis, Cataract, Splenomegaly, Thymus hyperplasi...	ORPHA:2969
Auditory Neuropathy, Autosomal Dominant 1	Sensorineural hearing impairment, Abnormal auditory evoked potentials	OMIM:609129
Spermatogenic Failure 29	Male infertility, Immotile sperm, Non-obstructive azoospermia	OMIM:618091
Spermatogenic Failure 64	Male infertility, Oligozoospermia, Abnormal sperm head morphology, Reduced progressive sperm moti...	OMIM:619696
Intellectual Developmental Disorder, X-Linked, Syndromic 32	Cardiomegaly, Macroorchidism	OMIM:300886
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome	Abnormal circulating renin, Athetosis, Adrenal hyperplasia, Tinnitus, Hyperaldosteronism	ORPHA:369929
Ogden Syndrome	Cerebral atrophy, Postnatal growth retardation, Hypertonia, Torticollis, Shuffling gait, Cryptorc...	ORPHA:276432
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6	Bradykinesia, Chorea, Ataxia, Lethargy	OMIM:618683
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency	Adrenal hyperplasia, Ambiguous genitalia, Adrenogenital syndrome, Male pseudohermaphroditism	OMIM:202110
Ovarian Dysgenesis 7	Hypoplasia of the uterus, Elevated circulating luteinizing hormone level, Elevated circulating fo...	OMIM:618117
Hyperphenylalaninemia, Bh4-Deficient, B	Irritability, Hyperkinetic movements, Limb hypertonia, Tremor, Rigidity, Dystonia, Dysphagia, Cho...	OMIM:233910
Microphthalmia/Coloboma 10	Chorioretinal coloboma, Microcoria, Iris coloboma	OMIM:616428
Spermatogenic Failure 70	Male infertility, Reduced sperm motility, Oligozoospermia, Azoospermia	OMIM:619828
Citrullinemia Type Ii	Hypertriglyceridemia, Irritability, Decreased body mass index, Abnormal eating behavior, Diarrhea...	ORPHA:247585
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Optic atrophy, Anorexia, Anemia, Failure to thrive, Dystonia, Thrombocytopenia, Splenomegaly, Cho...	ORPHA:79312
Deafness, Autosomal Recessive 9	Sensorineural hearing impairment, Absent brainstem auditory responses	OMIM:601071
Hereditary Central Diabetes Insipidus	Polydipsia, Irritability, Diabetes insipidus, Diarrhea, Vomiting, Growth delay, Weight loss, Leth...	ORPHA:30925
Cofs Syndrome	Optic atrophy, Hypertonia, Intrauterine growth retardation, Cerebral cortical atrophy, Short stat...	ORPHA:1466
Spermatogenic Failure 31	Acephalic spermatozoa, Male infertility	OMIM:618112
Spermatogenic Failure 53	Male infertility, Tapered sperm head	OMIM:619258
Spermatogenic Failure 87	Male infertility, Ruffled acrosome	OMIM:620500
Spermatogenic Failure 26	Acephalic spermatozoa, Male infertility	OMIM:617961
Focal Cortical Dysplasia, Type Ii	Hemiparesis, Astrocytosis	OMIM:607341
Deafness, Autosomal Recessive 104	Prelingual sensorineural hearing impairment, Absent brainstem auditory responses	OMIM:616515
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Optic atrophy, Anemia, Chorea, Growth delay, Hemiplegia/hemiparesis, Dystonia, Thrombocytopenia, ...	ORPHA:289916
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome	Hypertonia, Anemia, Tremor, Gait disturbance, Cerebral cortical atrophy, Short stature, Type I di...	ORPHA:1192
Isolated Thyroid-Stimulating Hormone Deficiency	Decreased thyroid-stimulating hormone level, Depression, Clumsiness, Pituitary hypothyroidism, In...	ORPHA:90674
Laurence-Moon Syndrome	Hypoplasia of penis, Short stature, Obesity, Displacement of the urethral meatus, Ataxia, Type II...	ORPHA:2377
48,Xxyy Syndrome	Gastroesophageal reflux, Azoospermia, Hypoplasia of penis, Depression, Infertility, Tremor, Hyper...	ORPHA:10
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism	Optic atrophy, Cerebellar vermis atrophy, Dysdiadochokinesis, Tremor, Cerebellar atrophy, Spastic...	OMIM:614381
Early Myoclonic Encephalopathy	Lethargy, Dysphagia, Myoclonus	ORPHA:1935
Anterior Segment Dysgenesis 3	Abnormal iris vasculature, Axenfeld anomaly, Hypoplastic iris stroma, Rieger anomaly, Posterior e...	OMIM:601631
Charcot-Marie-Tooth Disease Type 1E	Steppage gait, Decreased nerve conduction velocity, Difficulty walking, Hammertoe, Gait imbalance...	ORPHA:90658
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome	Abnormality of the ovary, Gait disturbance, Decreased testicular size, Hypogonadism, Cataract	ORPHA:1875
Pyruvate Dehydrogenase Deficiency	Spasticity, Tremor, Cerebral palsy, Gait disturbance, Intrauterine growth retardation, Growth del...	ORPHA:765
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency	Agitation, Diarrhea, Emotional lability, Paraplegia, Vomiting, Nausea, Failure to thrive, Ataxia,...	ORPHA:927
Ataxia-Telangiectasia	Delayed puberty, Spasticity, Tremor, Abnormal testis morphology, Gait disturbance, Short stature,...	ORPHA:100
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency	Oculomotor apraxia, Cerebellar atrophy, Corpus callosum atrophy, Rigidity, Dysphagia, Hypogonadis...	ORPHA:412057
Perrault Syndrome 3	Hypergonadotropic hypogonadism, Elevated circulating follicle stimulating hormone level, Elevated...	OMIM:614129
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency	Premature pubarche, Penoscrotal hypospadias, Hypospadias, Impaired cortisol response to corticotr...	OMIM:201810
Ovarian Dysgenesis 5	Hypoplasia of the uterus, Elevated circulating luteinizing hormone level, Elevated circulating fo...	OMIM:617690
Acth-Independent Macronodular Adrenal Hyperplasia	Decreased circulating ACTH concentration, Macronodular adrenal hyperplasia, Adrenal hyperplasia, ...	OMIM:219080
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia	Azoospermia, Decreased circulating follicle stimulating hormone concentration, Decreased circulat...	OMIM:308700
Upper Limb Defect-Eye And Ear Abnormalities Syndrome	Abnormal antihelix morphology, Short metacarpal, Hearing impairment, Short thumb, Chorioretinal c...	ORPHA:2489
Autosomal Recessive Spastic Paraplegia Type 26	Babinski sign, Premature ovarian insufficiency, Impaired vibration sensation at ankles, Lower lim...	ORPHA:101006
Kennedy Disease	Erectile dysfunction, Gait disturbance, Type II diabetes mellitus, Decreased fertility, Testicula...	ORPHA:481
Spermatogenic Failure 44	Male infertility, Abnormal circulating testosterone concentration, Acephalic spermatozoa, Decreas...	OMIM:619044
Isolated Follicle Stimulating Hormone Deficiency	Delayed puberty, Male hypogonadism, Azoospermia, Oligozoospermia, Delayed menarche, Testicular at...	ORPHA:52901
Pelizaeus-Merzbacher Disease	Spastic paraplegia, Head titubation, Ataxia, Dysphagia, Optic atrophy, Writer's cramp, Broad-base...	OMIM:312080
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3	Cerebral atrophy, Premature ovarian insufficiency, Depression, Sensory axonal neuropathy, Sensory...	OMIM:609286
Anemia, Sideroblastic, And Spinocerebellar Ataxia	Positive Romberg sign, Cerebellar atrophy, Ataxia, Myoclonus, Intrauterine growth retardation, Ba...	OMIM:301310
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23	Waddling gait, Axonal degeneration	OMIM:618138
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect	Optic atrophy, Difficulty walking, Inability to walk, Oculogyric crisis, Tremor, Cerebellar atrop...	ORPHA:330050
Premature Ovarian Failure 13	Hypoplasia of the uterus, Elevated circulating follicle stimulating hormone level	OMIM:617442
Familial Peripheral Male-Limited Precocious Puberty	Male infertility, Long penis, Oligozoospermia, Precocious puberty, Attention deficit hyperactivit...	ORPHA:3000
Trisomy 9P	Clinodactyly of the 5th finger, Dental crowding, Non-midline cleft of the upper lip, Macrotia, Do...	ORPHA:236
Infantile Neuronal Ceroid Lipofuscinosis	Cerebral atrophy, Brain atrophy, Chorea, Tremor, Cerebellar atrophy, Myoclonus, Spasticity, Myocl...	ORPHA:79263
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome	Hyperinsulinemia, Secondary amenorrhea, Cerebellar atrophy, Hypergonadotropic hypogonadism, Decre...	ORPHA:3085
Spermatogenic Failure, X-Linked, 2	Male infertility, Spermatogenesis maturation arrest, Testicular atrophy, Azoospermia	OMIM:309120
Charcot-Marie-Tooth Disease, Type 4B1	Facial palsy, Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials	OMIM:601382
Autosomal Dominant Progressive External Ophthalmoplegia	Gastroparesis, Facial diplegia, Cerebellar atrophy, Gait ataxia, Rigidity, Ataxia, Dysphagia, Hyp...	ORPHA:254892
Morm Syndrome	Truncal obesity, Hyperactivity, Cataract, Micropenis, Aggressive behavior	ORPHA:75858
Distal Deletion 6P	Abnormal anterior chamber morphology, Orofacial cleft, Clinodactyly of the 5th finger, Short phil...	ORPHA:96125
Thiamine-Responsive Megaloblastic Anemia Syndrome	Optic atrophy, Anorexia, Diarrhea, Megaloblastic anemia, Short stature, Thrombocytopenia, Diabete...	ORPHA:49827
Kallmann Syndrome With Spastic Paraplegia	Decreased circulating follicle stimulating hormone concentration, Decreased circulating luteinizi...	OMIM:308750
Immunodeficiency 83, Susceptibility To Viral Infections	Hemiparesis, Gliosis, Lethargy	OMIM:613002
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A	Optic atrophy, Babinski sign, Steppage gait, Hypertonia, Distal sensory impairment, Spasticity, T...	OMIM:609260
Spermatogenic Failure 81	Male infertility, Oligozoospermia, Acrosomal hypoplasia, Reduced progressive sperm motility	OMIM:620277
Basal Ganglia Calcification, Idiopathic, 1	Bradykinesia, Depression, Chorea, Dysdiadochokinesis, Athetosis, Tremor, Gait disturbance, Cerebe...	OMIM:213600
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation	Obstructive azoospermia, Azoospermia, Abnormal spermatogenesis, Decreased testicular size, Non-ob...	ORPHA:399805
Cockayne Syndrome Type 1	Hypoplasia of the primary teeth, Ataxia, Anodontia, Delayed eruption of primary teeth, Widely spa...	ORPHA:90321
Perrault Syndrome 1	Gonadal dysgenesis, Cerebellar atrophy, Gait ataxia, Intention tremor, Short stature, Ataxia, Pri...	OMIM:233400
Familial Hyperaldosteronism Type Iii	Adrenal hyperplasia, Abnormal circulating renin, Tinnitus, Glucocortocoid-insensitive primary hyp...	ORPHA:251274
Spinocerebellar Ataxia 23	Limb ataxia, Babinski sign, Impaired distal proprioception, Neuronal loss in central nervous syst...	OMIM:610245
Alpha-Mannosidosis	Narrow palate, Chronic otitis media, Hepatomegaly, Widely spaced teeth, Craniofacial hyperostosis...	ORPHA:61
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies	Ectopic kidney, Unilateral renal agenesis, Azoospermia, Bicornuate uterus, Hypoplasia of the uterus	OMIM:601076
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia	Eyelid myoclonus, Pontocerebellar atrophy, Oculomotor apraxia, Incoordination, Tremor, Ataxia, Ch...	OMIM:618060
Perrault Syndrome 6	Streak ovary, Hypoplasia of the uterus	OMIM:617565
Lopes-Maciel-Rodan Syndrome	Bradykinesia, Cerebral atrophy, Agitation, Hypertonia, Cerebellar vermis atrophy, Spasticity, Tre...	OMIM:617435
Leukoencephalopathy With Vanishing White Matter 2	Optic atrophy, Premature ovarian insufficiency, Secondary amenorrhea, Spasticity, Unsteady gait, ...	OMIM:620312
Citrullinemia Type I	Torticollis, Gastroesophageal reflux, Spasticity, Vomiting, Failure to thrive, Ataxia, Ankle clon...	ORPHA:247525
Microcephaly-Brachydactyly-Kyphoscoliosis Syndrome	High, narrow palate, Low-set ears, Shuffling gait, Broad thumb, Macrotia, Broad hallux, Malar fla...	ORPHA:3433
Deafness-Infertility Syndrome	Male infertility, Azoospermia	ORPHA:94064
Spermatogenic Failure 52	Male infertility, Azoospermia	OMIM:619202
Spermatogenic Failure 4	Male infertility, Azoospermia	OMIM:270960
Spermatogenic Failure, Y-Linked, 2	Male infertility, Azoospermia	OMIM:415000
Spermatogenic Failure 23	Male infertility, Azoospermia	OMIM:617707
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency	Female external genitalia in individual with 46,XY karyotype, Abnormal female external genitalia ...	ORPHA:90790
Autosomal Recessive Spastic Paraplegia Type 44	Difficulty walking, Sensorineural hearing impairment, Abnormal auditory evoked potentials, Abnorm...	ORPHA:320401
Premature Ovarian Failure 6	Streak ovary, Hypoplasia of the uterus, Elevated circulating luteinizing hormone level, Elevated ...	OMIM:612310
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome	Agitation, Hyperinsulinemia, Tremor, Increased body weight, Hyperinsulinemic hypoglycemia, Pancre...	ORPHA:276608
Leukodystrophy, Hypomyelinating, 5	Delayed brainstem auditory evoked response conduction time, Truncal titubation, Intention tremor,...	OMIM:610532
Alexander Disease	Dysmetria, Ataxia, Microcoria	OMIM:203450
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency	Increased circulating androstenedione concentration, Clitoral hypertrophy, Precocious puberty in ...	OMIM:202010
Wagr Syndrome	Dysfunction of lateral corticospinal tracts, Short stature, Obesity, Displacement of the urethral...	ORPHA:893
Alagille Syndrome	Hypoplasia of the ulna, Delayed puberty, Protruding ear, Hepatomegaly, Clinodactyly of the 5th fi...	ORPHA:52
Hyperaldosteronism, Familial, Type I	Adrenal hyperplasia, Decreased circulating renin level, Adrenogenital syndrome, Hyperaldosteronism	OMIM:103900
Amyotrophy, Hereditary Neuralgic	Short stature, Peripheral axonal degeneration, Axonal degeneration	OMIM:162100
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities	Sensorineural hearing impairment, Abnormal auditory evoked potentials, Hypoplasia of the maxilla,...	OMIM:109120
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy	Narrow greater sciatic notch, Femoral bowing, Corneal opacity, Cupped ribs, Tibial bowing, Short ...	OMIM:608940
Hsd10 Disease	Frontotemporal cerebral atrophy, Optic atrophy, Postnatal growth retardation, Tremor, Gait distur...	ORPHA:391417
Spinocerebellar Ataxia Type 27	Limb ataxia, Akinesia, Difficulty walking, Depression, Truncal ataxia, Sensory axonal neuropathy,...	ORPHA:98764
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy	Optic atrophy, Abnormal auditory evoked potentials, Gait disturbance, Abnormal amplitude of patte...	OMIM:125250
Dystonia 11, Myoclonic	Torticollis, Writer's cramp, Depression, Tremor, Compulsive behaviors, Addictive alcohol use, Myo...	OMIM:159900
Premature Ovarian Failure 18	Hypoplasia of the ovary, Hypoplasia of the uterus, Elevated circulating luteinizing hormone level...	OMIM:619203
Insulinoma	Hyperinsulinemia, Abnormality of pain sensation, Neoplasm of the adrenal gland, Tremor, Increased...	ORPHA:97279
Behr Syndrome	Optic atrophy, Babinski sign, Cerebellar vermis atrophy, Truncal ataxia, Sensory axonal neuropath...	OMIM:210000
Spinocerebellar Ataxia 18	Babinski sign, Sensory axonal neuropathy, Dysdiadochokinesis, Tremor, Cerebellar atrophy, Progres...	OMIM:607458
Pigmented Nodular Adrenocortical Disease, Primary, 3	Adrenal hyperplasia, Increased circulating cortisol level	OMIM:614190
Spinocerebellar Ataxia 42	Spastic gait, Babinski sign, Impaired vibration sensation at ankles, Depression, Tremor, Cerebell...	OMIM:616795
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations	Broad finger, Astigmatism, High palate, Abnormal auditory evoked potentials, Abnormality of visua...	OMIM:617523
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis	Bradykinesia, Babinski sign, Depression, Tremor, Parkinsonism with favorable response to dopamine...	ORPHA:314632
Symptomatic Form Of Hfe-Related Hemochromatosis	Erectile dysfunction, Infertility, Decreased libido, Testicular atrophy, Hypothyroidism, Splenome...	ORPHA:465508
Pigmented Nodular Adrenocortical Disease, Primary, 4	Adrenal hyperplasia, Diabetes mellitus, Primary hypercortisolism, Increased circulating cortisol ...	OMIM:615830
Central Neurocytoma	Babinski sign, Depression, Ataxia, Pain insensitivity, Lethargy, Paresthesia	ORPHA:73256
Developmental And Epileptic Encephalopathy 41	Cerebral atrophy, Irritability, Babinski sign, Inability to walk, Spasticity, Tetraparesis, Lethargy	OMIM:617105
Autosomal Dominant Optic Atrophy, Classic Form	Optic atrophy, Macrocytic anemia, Temporal optic disc pallor, Atrophy/Degeneration affecting the ...	ORPHA:98673
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)	Cerebral atrophy, Hypertonia, Cerebral cortical neurodegeneration, Neuronal loss in central nervo...	OMIM:203700
Striatal Degeneration, Autosomal Dominant 1	Bradykinesia, Degeneration of the striatum, Dysdiadochokinesis, Tremor, Gait disturbance, Rigidit...	OMIM:609161
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3	Steppage gait, Distal sensory impairment, Peripheral axonal neuropathy, Tremor, Cerebellar atroph...	OMIM:618387
Tonne-Kalscheuer Syndrome	Blue irides, Hypospadias, Broad-based gait, Spasticity, Tremor, Decreased testicular size, Short ...	OMIM:300978
Dihydrolipoamide Dehydrogenase Deficiency	Dystonia, Ataxia, Lethargy	OMIM:246900
Dystonia-Parkinsonism-Hypermanganesemia Syndrome	Bradykinesia, Cerebral atrophy, Babinski sign, Oromandibular dystonia, Scissor gait, Spasticity, ...	ORPHA:521406
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness	Sensorineural hearing impairment, Facial palsy, High palate, Absent brainstem auditory responses,...	OMIM:617519
Spinocerebellar Ataxia, Autosomal Recessive 13	Inferior cerebellar vermis hypoplasia, Inability to walk, Dysdiadochokinesis, Tremor, Cerebellar ...	OMIM:614831
Ovarian Dysgenesis 9	Hypoplasia of the ovary, Hypoplasia of the uterus, Elevated circulating luteinizing hormone level...	OMIM:619665
Short Stature-Micrognathia Syndrome	Astigmatism, Penoscrotal hypospadias, Rhizomelia, Gastroesophageal reflux, Cerebellar atrophy, De...	OMIM:617164
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum	Inability to walk, Cerebellar vermis hypoplasia, Hyperactivity, Tremor, Cerebellar atrophy, Gait ...	OMIM:618090
46,Xx Sex Reversal 2	Hypoplasia of the uterus, Ovotestis, Azoospermia, Bifid scrotum, True hermaphroditism, Elevated c...	OMIM:278850
Hypogonadism, Male	Testicular atrophy, Male hypogonadism, Micropenis, Hypospadias	OMIM:241100
Neurodegeneration With Brain Iron Accumulation 7	Cerebral atrophy, Lower limb spasticity, Tremor, Cerebellar atrophy, Dystonia, Loss of ambulation...	OMIM:617916
Intellectual Developmental Disorder, X-Linked 104	Optic atrophy, Hyperactivity, Spasticity, Tremor, Cerebral cortical atrophy, Ataxia, Aggressive b...	OMIM:300983
Neuroectodermal Melanolysosomal Disease	Optic atrophy, Hypertonia, Spasticity, Subcortical cerebral atrophy, Tremor, Cerebral cortical at...	ORPHA:33445
Mohr-Tranebjaerg Syndrome	Optic atrophy, Postlingual sensorineural hearing impairment, Prelingual sensorineural hearing imp...	ORPHA:52368
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome	Spastic gait, Optic atrophy, Delayed puberty, Optic nerve hypoplasia, Peripheral axonal neuropath...	ORPHA:496790
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2	Growth delay, Sideroblastic anemia, Failure to thrive, Dysphagia, Lethargy	OMIM:613561
Isolated Ectopia Lentis	Mandibular prognathia, Ectopia lentis, Ectopia pupillae, Malar flattening, Cataract	ORPHA:1885
Parkinsonism-Dystonia 3, Childhood-Onset	Global brain atrophy, Hypertonia, Hyperkinetic movements, Depression, Chorea, Tremor, Cerebellar ...	OMIM:619738
Xeroderma Pigmentosum, Complementation Group G	Spasticity, Tremor, Growth delay, Ataxia, Cataract, Small for gestational age	OMIM:278780
46,Xy Sex Reversal 11	Abnormal internal genitalia, Aplasia of the uterus, Urogenital sinus anomaly, Elevated circulatin...	OMIM:273250
Vitamin B12-Unresponsive Methylmalonic Acidemia	Optic atrophy, Anemia, Macrocytic anemia, Paraparesis, Thrombocytopenia, Leukopenia, Ataxia, Chor...	ORPHA:27
Holocarboxylase Synthetase Deficiency	Anorexia, Irritability, Keratoconjunctivitis, Growth delay, Ataxia, Thrombocytopenia, Weight loss...	ORPHA:79242
Myopathy, Tubular Aggregate, 1	Abnormal pupil morphology	OMIM:160565
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome	Bradykinesia, Hypertonia, Difficulty walking, Truncal ataxia, Astrocytosis, Dysdiadochokinesis, P...	ORPHA:309854
46,Xy Sex Reversal 4	Gonadal dysgenesis, Hypoplastic labia majora, Hypergonadotropic hypogonadism, Increased blood ure...	OMIM:154230
Coenzyme Q10 Deficiency, Primary, 9	Lower limb spasticity, Tremor, Cerebellar atrophy, Impulsivity, Oppositional defiant disorder, At...	OMIM:619028
Amed Syndrome, Digenic	Anemia, Acute myeloid leukemia, Adrenal hypoplasia, Bone marrow hypocellularity, Thrombocytopenia...	OMIM:619151
Pandas	Anorexia, Irritability, Encopresis, Obsessive-compulsive trait, Abnormal fear-induced behavior, D...	ORPHA:66624
Myotonic Dystrophy 1	Cerebral atrophy, Obsessive-compulsive trait, Cholelithiasis, Facial diplegia, Dysphagia, Hypogon...	OMIM:160900
Epilepsy, Progressive Myoclonic 7	Tremor, Cerebellar atrophy, Ataxia, Myoclonus	OMIM:616187
Ectopia Lentis Et Pupillae	Iris transillumination defect, Persistent pupillary membrane, Ectopia lentis, Ectopia pupillae, C...	OMIM:225200
Aromatic L-Amino Acid Decarboxylase Deficiency	Irritability, Babinski sign, Torticollis, Gastroesophageal reflux, Tongue thrusting, Diarrhea, Em...	OMIM:608643
Impaired Intellectual Development, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome	Childhood-onset truncal obesity, Truncal obesity, Spasticity, Cataract, Micropenis	OMIM:610156
Satoyoshi Syndrome	Abnormal metaphysis morphology, Abnormal femur morphology, Abnormal hip bone morphology, Hypoplas...	ORPHA:3130
Segawa Syndrome, Autosomal Recessive	Abnormality of extrapyramidal motor function, Tremor, Parkinsonism with favorable response to dop...	OMIM:605407
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome	Cerebellar atrophy, Clumsiness, Optic atrophy, Babinski sign, Hypertonia, Difficulty walking, Imp...	ORPHA:137898
Spermatogenic Failure 77	Abnormal circulating luteinizing hormone concentration, Male infertility, Abnormal circulating te...	OMIM:620103
Propionic Acidemia	Cerebral atrophy, Anemia, Limb hypertonia, Pancytopenia, Vomiting, Constipation, Failure to thriv...	OMIM:606054
Central Diabetes Insipidus	Polydipsia, Anorexia, Diabetes insipidus, Depression, Diarrhea, Failure to thrive, Weight loss, L...	ORPHA:178029
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Hepatomegaly, Elevated circulating creatine kinase concentration, Hyperammonemia, Cardiomegaly, D...	OMIM:600649
Idiopathic Intracranial Hypertension	Abnormal emotion, Depression, Vomiting, Nausea, Papilledema, Obesity, Lethargy	ORPHA:238624
3-Methylglutaconic Aciduria, Type V	Optic atrophy, Postnatal growth retardation, Hypospadias, Decreased testicular size, Normochromic...	OMIM:610198
Dystonia 12	Bradykinesia, Torticollis, Depression, Emotional lability, Tremor, Dystonia, Unsteady gait, Dysph...	OMIM:128235
Pyruvate Dehydrogenase E3 Deficiency	Spasticity, Vomiting, Failure to thrive, Ataxia, Lethargy	ORPHA:2394
Spastic Ataxia 2, Autosomal Recessive	Cerebral atrophy, Babinski sign, Torticollis, Fasciculations, Spasticity, Tremor, Cerebellar atro...	OMIM:611302
Hypergonadotropic Hypogonadism-Cataract Syndrome	Delayed puberty, Absence of secondary sex characteristics, Hypergonadotropic hypogonadism, Second...	ORPHA:2410
46,Xx Ovotesticular Difference Of Sex Development	Abnormal male internal genitalia morphology, Hypospadias, Hypoplasia of penis, Abnormal scrotal r...	ORPHA:2138
Leydig Cell Hypoplasia	Testicular gonadoblastoma, Hypospadias, Abnormal vas deferens morphology, Breast aplasia, Hypopla...	ORPHA:755
Satoyoshi Syndrome	Mildly elevated creatine kinase, Hypoplasia of the uterus	OMIM:600705
Susac Syndrome	Somatic sensory dysfunction, Abnormal emotion, Upper motor neuron dysfunction, Gait ataxia, Apath...	ORPHA:838
Achalasia-Addisonianism-Alacrima Syndrome	Optic atrophy, Adrenocorticotropin receptor defect, Orthostatic hypotension, Abnormal autonomic n...	OMIM:231550
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development	Hearing impairment, Cleft upper lip, Cleft palate, Chorioretinal coloboma, Cataract, Iris coloboma	OMIM:120433
Dystonia 28, Childhood-Onset	Tip-toe gait, Astigmatism, Oromandibular dystonia, Torticollis, Retrocollis, Spasticity, Tremor, ...	OMIM:617284
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis	Irregular epiphyses, Sensorineural hearing impairment, Abnormal auditory evoked potentials, Irreg...	OMIM:619260
Methylcobalamin Deficiency Type Cble	Postnatal growth retardation, Macrocytic anemia, Pancytopenia, Increased mean corpuscular volume,...	ORPHA:2169
Peroxisome Biogenesis Disorder 5A (Zellweger)	Optic nerve dysplasia, Optic atrophy, Clitoral hypertrophy, Hypospadias, Small for gestational ag...	OMIM:614866
Syngap1-Related Developmental And Epileptic Encephalopathy	Obsessive-compulsive trait, Hypospadias, Abnormality of pain sensation, Tremor, Recurrent hand fl...	ORPHA:544254
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Narrow greater sciatic notch, Flared metaphysis, Short long bone, Corneal opacity, Cupped ribs, S...	ORPHA:85167
Woolly Hair	Cataract, Abnormal pupil morphology	ORPHA:170
Ciliary Dyskinesia, Primary, 50	Short sperm flagella, Male infertility, Reduced sperm motility, Reduced progressive sperm motilit...	OMIM:620356
Marinesco-Sjögren Syndrome	Optic atrophy, Hypertonia, External genital hypoplasia, Spasticity, Rigidity, Ataxia, Severe shor...	ORPHA:559
Oculocerebrorenal Syndrome Of Lowe	Chronic otitis media, Delayed puberty, Cheilitis, Abnormal circulating calcium-phosphate regulati...	ORPHA:534
Non-Specific Early-Onset Epileptic Encephalopathy	Cerebral atrophy, Optic atrophy, Difficulty walking, Gastroesophageal reflux, Limb hypertonia, Br...	ORPHA:442835
Typhoid	Gastrointestinal hemorrhage, Hypertonia, Diarrhea, Tremor, Constipation, Ataxia, Splenomegaly, Le...	ORPHA:99745
Multiple System Atrophy, Cerebellar Type	Bradykinesia, Limb ataxia, Female anorgasmia, Progressive cerebellar ataxia, Broad-based gait, De...	ORPHA:227510
Tay-Sachs Disease	Fasciculations, Incoordination, Decerebrate rigidity, Cerebellar atrophy, Dysphagia, Myoclonus, C...	ORPHA:845
Spinocerebellar Ataxia 7	Optic atrophy, Babinski sign, Progressive cerebellar ataxia, Abnormality of extrapyramidal motor ...	OMIM:164500
Combined Oxidative Phosphorylation Deficiency 54	Hypertonia, Tremor, Hypergonadotropic hypogonadism, Hemiparesis, Obesity, Primary amenorrhea, Imp...	OMIM:619737
Galactokinase Deficiency	Premature ovarian insufficiency, Hyperinsulinemia, Hypergonadotropic hypogonadism, Speech apraxia...	ORPHA:79237
Atypical Rett Syndrome	Pill-rolling tremor, Agitation, Restrictive behavior, Inability to walk, Tongue thrusting, Apraxi...	ORPHA:3095
Cockayne Syndrome A	Square pelvis bone, Hypoplastic iliac wing, Sensorineural hearing impairment, Abnormal pinna morp...	OMIM:216400
Autosomal Spastic Paraplegia Type 58	Fasciculations, Chorea, Cerebellar atrophy, Gait ataxia, Tip-toe gait, Babinski sign, Tremor, Sho...	ORPHA:397946
Amelogenesis Imperfecta	Fragile teeth, Widely spaced teeth, Abnormal permanent molar morphology, Yellow-brown discolorati...	ORPHA:88661
Male Infertility With Teratozoospermia Due To Single Gene Mutation	Abnormal sperm tail morphology, Abnormal spermatogenesis, Decreased testicular size, Globozoosper...	ORPHA:399808
Severe Neurodegenerative Syndrome With Lipodystrophy	Cerebral atrophy, Hypertriglyceridemia, Hyperinsulinemia, Hyperactivity, Neuronal loss in central...	ORPHA:363400
Neurodegeneration With Brain Iron Accumulation 8	Tremor, Cerebellar atrophy, Unsteady gait, Loss of ambulation, Ataxia, Dysmetria	OMIM:617917
Spinocerebellar Ataxia Type 14	Limb ataxia, Progressive cerebellar ataxia, Cerebellar vermis atrophy, Tremor, Gait ataxia, Rigid...	ORPHA:98763
Usher Syndrome Type 1	Abnormal dental enamel morphology, Abnormal cochlea morphology, Sensorineural hearing impairment,...	ORPHA:231169
Renpenning Syndrome	Abnormal thumb morphology, High, narrow palate, Clinodactyly of the 5th finger, Hypospadias, Shor...	ORPHA:3242
Cataract-Intellectual Disability-Hypogonadism Syndrome	Low-set, posteriorly rotated ears, Short philtrum, Tooth malposition, Abnormal antihelix morpholo...	ORPHA:1387
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia	Hypoplasia of the uterus, Hypogonadotropic hypogonadism	OMIM:614842
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome	Eyelid myoclonus, Difficulty walking, Inability to walk, Tremor, Waddling gait, Limb myoclonus, F...	ORPHA:2590
47,Xyy Syndrome	Male infertility, Dysgenesis of the cerebellar vermis, Hypospadias, Increased serum testosterone ...	ORPHA:8
Ravine Syndrome	Abnormal auditory evoked potentials, Ataxia	ORPHA:99852
Spastic Paraplegia 5A, Autosomal Recessive	Spastic gait, Optic atrophy, Babinski sign, Lower limb spasticity, Impaired distal proprioception...	OMIM:270800
Multifocal Atrial Tachycardia	Hypothyroidism, Cryptorchidism, Lethargy	ORPHA:3282
Cockayne Syndrome Type 3	Difficulty walking, Gastroesophageal reflux, Corneal ulceration, Brain atrophy, Astrocytosis, Mic...	ORPHA:90324
Multiple Epiphyseal Dysplasia, Beighton Type	Flattened humeral heads, Reduced proximal interphalangeal joint space, Flat capital femoral epiph...	ORPHA:166011
Dystonia-Deafness Syndrome 1	Generalized dystonia, Leg dystonia, Oculogyric crisis, Femoral retroversion, Sensorineural hearin...	OMIM:607371
Spinocerebellar Ataxia Type 42	Spastic gait, Babinski sign, Impaired vibration sensation at ankles, Depression, Atrophy/Degenera...	ORPHA:458803
Cataract-Microcornea Syndrome	Microcornea, Corneal dystrophy, Corneal opacity, Cataract, Iris coloboma	ORPHA:1377
Primary Unilateral Adrenal Hyperplasia	Adrenal hyperplasia, Decreased circulating renin level, Tinnitus, Glucocortocoid-insensitive prim...	ORPHA:231580
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
Renal Hypoplasia, Bilateral	Astigmatism, Anemia, Short stature, Failure to thrive, Growth delay, Small for gestational age, C...	ORPHA:97362
Spermatogenic Failure 38	Male infertility, Abnormal sperm head morphology, Abnormal axonemal organization of respiratory m...	OMIM:618433
Charcot-Marie-Tooth Disease, Type 4D	Decreased nerve conduction velocity, Hammertoe, Sensorineural hearing impairment, Abnormal audito...	OMIM:601455
Mitochondrial Complex I Deficiency, Nuclear Type 36	Cardiomegaly, Perimembranous ventricular septal defect, Hyperprolinemia, Hyperalaninemia	OMIM:619170
Axenfeld-Rieger Syndrome, Type 1	Decreased response to growth hormone stimulation test, Polycoria, Aniridia, Hypospadias, Short ph...	OMIM:180500
Intellectual Developmental Disorder, Autosomal Recessive 48	Inability to walk, Emotional lability, Tremor, Waddling gait, Inappropriate laughter, Self-mutila...	OMIM:616269
Carbamoyl Phosphate Synthetase I Deficiency, Hyperammonemia Due To	Irritability, Vomiting, Failure to thrive, Ataxia, Lethargy	OMIM:237300
Axenfeld-Rieger Syndrome, Type 3	Sensorineural hearing impairment, Microdontia, Hypoplasia of the iris, Posterior embryotoxon, Ect...	OMIM:602482
Spinocerebellar Ataxia With Epilepsy	Optic atrophy, Progressive cerebellar ataxia, Depression, Sensory axonal neuropathy, Dysdiadochok...	ORPHA:254881
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Spasticity, Neonatal death, Cataract, Cerebellar hypoplasia, Cryptorchidism, Optic disc pallor	OMIM:613730
Azoospermia, Obstructive, With Nephrolithiasis	Obstructive azoospermia, Male infertility, Spermatocele	OMIM:301060
Late-Onset Isolated Acth Deficiency	Anorexia, Normocytic anemia, Premature ovarian insufficiency, Hypoparathyroidism, Macrocytic anem...	ORPHA:199299
Hemiparkinsonism-Hemiatrophy Syndrome	Bradykinesia, Difficulty walking, Depression, Brain atrophy, Tremor, Hemiparesis, Dystonia, Parki...	ORPHA:306669
Epilepsy, Progressive Myoclonic, 1B	Babinski sign, Sensory axonal neuropathy, Tremor, Ataxia, Myoclonus, Dysmetria	OMIM:612437
Neurodegeneration With Brain Iron Accumulation 3	Bradykinesia, Babinski sign, Writer's cramp, Emotional lability, Chorea, Spasticity, Tremor, Blep...	OMIM:606159
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia	Optic atrophy, Abnormality of extrapyramidal motor function, Spasticity, Vomiting, Ataxia, Myoclo...	OMIM:614299
Mitochondrial Complex Iv Deficiency, Nuclear Type 2	Cerebral atrophy, Brain atrophy, Gliosis, Neuronal loss in central nervous system, Cerebellar atr...	OMIM:604377
Kallmann Syndrome	Decreased fertility, Breast hypoplasia, Delayed puberty, Erectile dysfunction, Anterior hypopitui...	ORPHA:478
Cataract 9, Multiple Types	Microcornea, Progressive cataract, Developmental cataract, Cataract, Iris coloboma	OMIM:604219
Combined Oxidative Phosphorylation Deficiency 2	Small for gestational age, Neonatal death, Lethargy	OMIM:610498
Iridocorneal Endothelial Syndrome	Polycoria, Iris nevus, Posterior synechiae of the anterior chamber, Corneal stromal edema, Iris a...	ORPHA:64734
Angelman Syndrome	Precocious puberty in females, Hyperactivity, Ataxia, Dysphagia, Myoclonus, Aggressive behavior, ...	ORPHA:72
Hyperinsulinism Due To Hnf1A Deficiency	Large for gestational age, Agitation, Maturity-onset diabetes of the young, Hyperinsulinemia, Mat...	ORPHA:324575
Megalocornea	Corneal arcus, Iris transillumination defect, Iridodonesis, Astigmatism, Mosaic corneal dystrophy...	OMIM:309300
Ataxia-Telangiectasia	Delayed puberty, Chronic diarrhea, Abnormal spermatogenesis, T lymphocytopenia, Female hypogonadi...	OMIM:208900
Spermatogenic Failure 15	Abnormal circulating luteinizing hormone concentration, Male infertility, Abnormal circulating fo...	OMIM:616950
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities	Inferior cerebellar vermis hypoplasia, Limb hypertonia, Fasciculations, Brain atrophy, Tremor, Ce...	OMIM:620327
Spinocerebellar Ataxia, Autosomal Recessive 31	Cerebral atrophy, Optic atrophy, Bruxism, Tremor, Growth delay, Dystonia, Ataxia, Dysphagia, Cere...	OMIM:619422
Duane Retraction Syndrome	Aniridia, Sensorineural hearing impairment, Abnormal pinna morphology, Everted lower lip vermilio...	ORPHA:233
Dentinogenesis Imperfecta	Fragile teeth, Grayish enamel, Yellow-brown discoloration of the teeth, Selective tooth agenesis,...	ORPHA:49042
Perrault Syndrome 4	Hypoplasia of the ovary, Bicornuate uterus, Gait ataxia, Cleft palate, Decreased serum estradiol,...	OMIM:615300
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency	Irritability, Hyperlipidemia, Short stature, Failure to thrive, Lethargy	ORPHA:2089
Warburg Micro Syndrome 3	Optic atrophy, Postnatal growth retardation, Inability to walk, Lower limb spasticity, Microcorne...	OMIM:614222
Cockayne Syndrome B	Square pelvis bone, Hypoplastic iliac wing, Sensorineural hearing impairment, Abnormal pinna morp...	OMIM:133540
Maternal Uniparental Disomy Of Chromosome 1	Hepatomegaly, Epiphyseal stippling, Pancytopenia, Hearing impairment, Downturned corners of mouth...	ORPHA:251009
Multiple System Atrophy, Parkinsonian Type	Bradykinesia, Female anorgasmia, Progressive cerebellar ataxia, Axial dystonia, Depression, Resti...	ORPHA:98933
Corneal Dystrophy, Posterior Polymorphous, 1	Abnormal corneal endothelium morphology, Band keratopathy, Iris atrophy, Corneal opacity, Abnorma...	OMIM:122000
Polyendocrine-Polyneuropathy Syndrome	Postnatal growth retardation, Decreased circulating follicle stimulating hormone concentration, D...	ORPHA:453533
Polyendocrine-Polyneuropathy Syndrome	Postnatal growth retardation, Anterior pituitary hypoplasia, Decreased testicular size, Central h...	OMIM:616113
Hec Syndrome	Developmental cataract, Abnormal pupil morphology, Vaginal hydrocele	ORPHA:2119
Parkinson Disease 2, Autosomal Recessive Juvenile	Bradykinesia, Cerebral atrophy, Pill-rolling tremor, Babinski sign, Resting tremor, Tremor, Shuff...	OMIM:600116
Posterior Polymorphous Corneal Dystrophy	Astigmatism, Chorioretinal degeneration, Corneal stromal edema, Corneal opacity, Abnormal Desceme...	ORPHA:98973
Oculofaciocardiodental Syndrome	Solitary median maxillary central incisor, Sensorineural hearing impairment, Flexion contracture ...	ORPHA:2712
Gaba-Transaminase Deficiency	Cerebellar hypoplasia, Lethargy	OMIM:613163
Normosmic Congenital Hypogonadotropic Hypogonadism	Delayed puberty, Absence of secondary sex characteristics, Breast hypoplasia, Hypoplasia of the u...	ORPHA:432
Congenital Disorder Of Glycosylation, Type Ig	Rhizomelia, Hypospadias, Small for gestational age, Failure to thrive, Small scrotum, Cryptorchid...	OMIM:607143
Hemochromatosis, Type 1	Increased circulating ferritin concentration, Hepatomegaly, Azoospermia, Cardiomyopathy, Increase...	OMIM:235200
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome	Disproportionate short-limb short stature, Hypoplasia of penis, Intrauterine growth retardation, ...	ORPHA:2772
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency	Large for gestational age, Agitation, Hyperinsulinemia, Diffuse pancreatic islet hyperplasia, Pol...	ORPHA:276575
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 8	Hemiparesis, Lethargy	OMIM:617900
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy	Optic atrophy, Babinski sign, Steppage gait, Hypertonia, Distal sensory impairment, Peripheral ax...	OMIM:616505
Progressive Supranuclear Palsy-Parkinsonism Syndrome	Bradykinesia, Falls, Depression, Tremor, Parkinsonism with favorable response to dopaminergic med...	ORPHA:240085
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease	Decreased circulating ACTH concentration, Macronodular adrenal hyperplasia, Primary hyperparathyr...	ORPHA:189427
Hypogonadism-Cataract Syndrome	Infertility, Elevated circulating follicle stimulating hormone level, Hypogonadism, Cataract, Mal...	OMIM:240950
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency	Large for gestational age, Agitation, Hyperinsulinemia, Maternal diabetes, Diffuse pancreatic isl...	ORPHA:276580
Multiple Endocrine Neoplasia Type 1	Hematemesis, Amenorrhea, Neoplasm of the pancreas, Adrenocortical abnormality, Pheochromocytoma, ...	ORPHA:652
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14	Postnatal growth retardation, Maturity-onset diabetes of the young, Truncal obesity, Poor fine mo...	ORPHA:96184
Spinocerebellar Ataxia 2	Oculomotor apraxia, Fasciculations, Cerebellar atrophy, Action tremor, Rigidity, Ataxia, Dysphagi...	OMIM:183090
Hyperaldosteronism, Familial, Type Iii	Adrenal hyperplasia, Decreased circulating renin level, Hyperaldosteronism	OMIM:613677
Optic Atrophy-Ataxia-Peripheral Neuropathy-Global Developmental Delay Syndrome	Optic atrophy, Clitoral hypertrophy, Hypertonia, Cerebellar vermis hypoplasia, Abnormal mitochond...	ORPHA:543470
Glycerol Kinase Deficiency	Hypertriglyceridemia, Episodic vomiting, Vomiting, Nausea, Short stature, Growth delay, Adrenocor...	OMIM:307030
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Diarrhea, Cachexia, Vomiting, Ataxia, Lethargy	ORPHA:42
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome	External genital hypoplasia, Obesity, Hypogonadism, Cataract, Cryptorchidism	ORPHA:363741
Megalocornea-Intellectual Disability Syndrome	Abnormal anterior chamber morphology, Iridodonesis, Astigmatism, Protruding ear, Short philtrum, ...	ORPHA:2479
Combined Oxidative Phosphorylation Defect Type 29	Global brain atrophy, Axonal degeneration, Optic neuropathy, Myoclonic spasms, Diffuse cerebellar...	ORPHA:478029
Infantile Spasms-Broad Thumbs Syndrome	Vaginal hernia, Broad thumb, Micrognathia, Cataract, EEG abnormality, Optic disc pallor	ORPHA:3173
Spondyloperipheral Dysplasia-Short Ulna Syndrome	Hypoplasia of the ulna, Type E brachydactyly, Irregular epiphyses, Delayed pubic bone ossificatio...	ORPHA:1856
Adult-Onset Autosomal Dominant Leukodystrophy	Spastic gait, Erectile dysfunction, Atrophy/Degeneration affecting the brainstem, Impaired distal...	ORPHA:99027
Progressive Supranuclear Palsy-Corticobasal Syndrome	Bradykinesia, Limb apraxia, Apraxia, Progressive extrapyramidal muscular rigidity, Parkinsonism w...	ORPHA:240103
Hyperphenylalaninemia, Bh4-Deficient, A	Bradykinesia, Irritability, Hypertonia, Limb hypertonia, Tremor, Rigidity, Dystonia, Ataxia, Dysp...	OMIM:261640
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability	Optic atrophy, Bilateral cleft palate, Sensorineural hearing impairment, Corneal opacity, Posteri...	ORPHA:1473
Seckel Syndrome 7	Abnormal carpal morphology, Clinodactyly of the 5th finger, Microtia, Short middle phalanx of the...	OMIM:614851
Microcephalic Primordial Dwarfism, Toriello Type	Abnormal epiphysis morphology, Abnormal rib morphology, Enamel hypoplasia, Downturned corners of ...	ORPHA:2643
Glycosylphosphatidylinositol Biosynthesis Defect 15	Optic atrophy, Inability to walk, Apraxia, Spasticity, Tremor, Cerebellar atrophy, Gait ataxia, C...	OMIM:617810
Congenital Bile Acid Synthesis Defect Type 4	Cholelithiasis, Depression, Tremor, Ataxia, Hematochezia, Hypogonadism, Type II diabetes mellitus...	ORPHA:79095
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism	Delayed puberty, Decreased response to growth hormone stimulation test, Short philtrum, Delayed e...	OMIM:615866
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements	Hyperkinetic movements, Torticollis, Chorea, Tremor, Dystonia, Ataxia	OMIM:618425
Combined Oxidative Phosphorylation Deficiency 29	Optic atrophy, Global brain atrophy, Axonal degeneration, Spasticity, Cerebellar atrophy, Optic n...	OMIM:616811
Progressive Supranuclear Palsy	Bradykinesia, Irritability, Falls, Depression, Neuronal loss in central nervous system, Gliosis, ...	ORPHA:683
Spermatogenic Failure 2	Abnormal circulating luteinizing hormone concentration, Male infertility, Abnormal circulating fo...	OMIM:108420
Usher Syndrome Type 3	Astigmatism, Sensorineural hearing impairment, Abnormal cochlea morphology, Iris hypopigmentation...	ORPHA:231183
Generalized Glucocorticoid Resistance Syndrome	Abnormal circulating testosterone concentration, Increased urinary cortisol level, Oligozoospermi...	ORPHA:786
Dentici-Novelli Neurodevelopmental Syndrome	Widely spaced teeth, Inability to walk, Hypsarrhythmia, Precocious puberty, Hearing impairment, M...	OMIM:619877
Adult-Onset Autosomal Recessive Cerebellar Ataxia	Limb ataxia, Progressive cerebellar ataxia, Ankle clonus, Fasciculations, Truncal ataxia, Cerebel...	ORPHA:284289
Glut1 Deficiency Syndrome 2	Cerebral atrophy, Irritability, Tremor, Reticulocytosis, Dystonia, Ataxia, Splenomegaly, Choreoat...	OMIM:612126
Optic Atrophy 8	Optic atrophy, Abnormality of pattern visual evoked potentials, Sensorineural hearing impairment,...	OMIM:616648
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Abnormal metaphysis morphology, Proximal placement of thumb, Short philtrum, Low-set ears, Abnorm...	ORPHA:93267
Trisomy X	Premature ovarian insufficiency, Secondary amenorrhea, Depression, Tremor, Precocious puberty, Co...	ORPHA:3375
Ciliary Dyskinesia, Primary, 51	Short sperm flagella, Male infertility, Oligozoospermia, Reduced sperm motility, Reduced progress...	OMIM:620438
Spastic Paraplegia 6, Autosomal Dominant	Spastic gait, Babinski sign, Lower limb spasticity, Impaired vibration sensation in the lower lim...	OMIM:600363
Hypermanganesemia With Dystonia 2	Bradykinesia, Tip-toe gait, Cerebral atrophy, Irritability, Babinski sign, Scissor gait, Inabilit...	OMIM:617013
Familial Dysautonomia	Optic atrophy, Corneal erosion, Orthostatic hypotension, Abnormal peritoneum morphology, Corneal ...	ORPHA:1764
Short Stature, Microcephaly, And Endocrine Dysfunction	Anemia, Apraxia, Broad-based gait, Truncal obesity, Cerebellar vermis atrophy, Dysdiadochokinesis...	OMIM:616541
Acth-Independent Macronodular Adrenal Hyperplasia 2	Increased urinary cortisol level, Macronodular adrenal hyperplasia, Decreased circulating ACTH co...	OMIM:615954
Lesch-Nyhan Syndrome	Abnormality of extrapyramidal motor function, Megaloblastic anemia, Spasticity, Vomiting, Short s...	OMIM:300322
Bilateral Parasagittal Parieto-Occipital Polymicrogyria	Spasticity, Aggressive behavior, Abnormal fear-induced behavior, Pseudobulbar paralysis	ORPHA:208441
Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness	Genu valgum, Narrow mouth, Epiphyseal dysplasia, Short phalanx of finger, Conductive hearing impa...	OMIM:132450
Autosomal Recessive Stickler Syndrome	Astigmatism, Genu valgum, Sensorineural hearing impairment, Abnormal epiphysis morphology, Epiphy...	ORPHA:250984
Autosomal Recessive Ataxia Due To Pex10 Deficiency	Limb ataxia, Mydriasis, Progressive cerebellar ataxia, Truncal ataxia, Type II diabetes mellitus,...	ORPHA:247815
Charcot-Marie-Tooth Disease Type 4C	Optic atrophy, Difficulty walking, Hammertoe, Inability to walk, Sensorineural hearing impairment...	ORPHA:99949
Hyperinsulinism Due To Ucp2 Deficiency	Large for gestational age, Agitation, Diffuse pancreatic islet hyperplasia, Polyphagia, Excessive...	ORPHA:276556
Spinocerebellar Ataxia, Autosomal Recessive 21	Limb ataxia, Distal sensory impairment, Impaired pain sensation, Cerebellar vermis atrophy, Spast...	OMIM:616719
Autosomal Recessive Cerebelloparenchymal Disorder Type 3	Oculomotor apraxia, Cerebellar vermis atrophy, Spasticity, Tremor, Cerebellar atrophy, Poor motor...	ORPHA:1170
46,Xy Partial Gonadal Dysgenesis	Delayed puberty, Abnormal labia morphology, Testicular gonadoblastoma, Gonadal dysgenesis, Clitor...	ORPHA:251510
Coenzyme Q10 Deficiency, Primary, 1	Anemia, Episodic vomiting, Pancytopenia, Right hemiplegia, Tremor, Cerebellar atrophy, Hypergonad...	OMIM:607426
Arthrogryposis, Distal, Type 2A	Rocker bottom foot, Flexion contracture of toe, Shoulder flexion contracture, Dental crowding, Ma...	OMIM:193700
Transcobalamin Ii Deficiency	Irritability, Anemia, Erythroid hypoplasia, Macrocytic anemia, Pancytopenia, Diarrhea, Reticulocy...	OMIM:275350
Neurodegeneration With Brain Iron Accumulation 4	Optic atrophy, Babinski sign, Oromandibular dystonia, Depression, Emotional lability, Abnormality...	OMIM:614298
Mitochondrial Complex I Deficiency, Nuclear Type 1	Babinski sign, Hypospadias, Tongue fasciculations, Spasticity, Cerebellar atrophy, Optic neuropat...	OMIM:252010
Charcot-Marie-Tooth Disease, Demyelinating, Type 1F	Distal sensory impairment, Tremor, Decreased number of peripheral myelinated nerve fibers, Dyspha...	OMIM:607734
Developmental Delay And Seizures With Or Without Movement Abnormalities	Bradykinesia, Chiari type I malformation, Tremor, Short stature, Rigidity, Dystonia, Ataxia	OMIM:617836
Medulloblastoma	Irritability, Cerebellar cyst, Progressive cerebellar ataxia, Cerebellar ataxia associated with q...	ORPHA:616
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia	Delayed puberty, Azoospermia, Secondary amenorrhea, Testicular microlithiasis, Decreased circulat...	OMIM:228300
Spermatogenic Failure 75	Male infertility, Spermatocyte maturation arrest, Elevated circulating follicle stimulating hormo...	OMIM:619949
Müllerian Aplasia And Hyperandrogenism	Increased serum testosterone level, Short philtrum, Abnormal vagina morphology, Abnormality of th...	ORPHA:247768
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome	Abnormal palate morphology, Genu valgum, Hypospadias, Hypoplasia of penis, Aplasia/Hypoplasia of ...	ORPHA:1381
X-Linked Recessive Ocular Albinism	Iris hypopigmentation, Astigmatism, Abnormal pupil morphology, Ocular albinism	ORPHA:54
Oculodentodigital Dysplasia	Broad alveolar ridges, Abnormal pinna morphology, Tooth agenesis, Ataxia, Clinodactyly, Taurodont...	ORPHA:2710
Myopathy, Mitochondrial, And Ataxia	Limb ataxia, Difficulty walking, Distal sensory impairment, Inability to walk, Depression, Trunca...	OMIM:617675
Fuchs Heterochromic Iridocyclitis	Anterior chamber inflammatory cells, Chorioretinal scar, Iris atrophy, Heterochromia iridis, Anis...	ORPHA:263479
Parkinson Disease 15, Autosomal Recessive Early-Onset	Bradykinesia, Babinski sign, Scissor gait, Lower limb spasticity, Abnormality of extrapyramidal m...	OMIM:260300
Oculopharyngeal Myopathy With Leukoencephalopathy 1	Cerebral atrophy, Tremor, Ataxia, Dysphagia	OMIM:618637
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy	Pontocerebellar atrophy, Inability to walk, Gastroesophageal reflux, Astrocytosis, Facial palsy, ...	ORPHA:258
Acromesomelic Dysplasia 3	Hypoplasia of the ulna, Fibular aplasia, Short finger, Radial deviation of finger, Tarsal synosto...	OMIM:609441
Spermatogenic Failure, X-Linked, 7	Male infertility, Multiflagellar spermatozoa, Reduced sperm motility, Globozoospermia, Excess res...	OMIM:301106
Microcephaly 10, Primary, Autosomal Recessive	Cerebral atrophy, Hypertonia, Gliosis, Spasticity, Cerebellar atrophy, Cerebellar hemisphere hypo...	OMIM:615095
Neurooculocardiogenitourinary Syndrome	Patent foramen ovale, Bilateral cryptorchidism, Cardiomegaly, Atrial septal defect, Ventricular s...	OMIM:618652
Meckel Syndrome 12	Rocker bottom foot, Low-set ears, Micrognathia, Antecubital pterygium, Bifid uvula, Vaginal atres...	OMIM:616258
Late-Infantile/Juvenile Krabbe Disease	Delayed brainstem auditory evoked response conduction time, Decreased nerve conduction velocity, ...	ORPHA:206443
Gm2 Gangliosidosis, Ab Variant	Cerebral atrophy, Inappropriate behavior, Postnatal growth retardation, Abnormal fear-induced beh...	ORPHA:309246
Intellectual Developmental Disorder With Hypotonia, Impaired Speech, And Dysmorphic Facies	Hypertonia, Astigmatism, Inability to walk, Tremor, Failure to thrive, Ataxia, Attention deficit ...	OMIM:619556
Cataract-Growth Hormone Deficiency-Sensory Neuropathy-Sensorineural Hearing Loss-Skeletal Dysplasia Syndrome	Prelingual sensorineural hearing impairment, Genu valgum, Decreased response to growth hormone st...	ORPHA:436174
Myoectodermal Gonadal Dysgenesis Syndrome	Gonadal dysgenesis, Thin vermilion border, Accessory spleen, Hypodontia, Sensorineural hearing im...	OMIM:618419
Attrv30M Amyloidosis	Cardiomegaly, Nephropathy, Cardiomyopathy, Abnormal renal physiology	ORPHA:85447
Subacute Inflammatory Demyelinating Polyneuropathy	Steppage gait, Difficulty walking, Distal sensory impairment, Positive Romberg sign, Tremor, Leuk...	ORPHA:206594
Thanatophoric Dysplasia, Glasgow Variant	Cataract, Neonatal death, Anemia, Hepatosplenomegaly	OMIM:273680
Beta-Propeller Protein-Associated Neurodegeneration	Bradykinesia, Optic atrophy, Cerebral atrophy, Tremor, Cerebellar atrophy, Rigidity, Dystonia, Pa...	ORPHA:329284
Unilateral Ocular Duplication	Microcornea, Cleft palate, Abnormal pupil morphology, Median cleft upper lip, Iris coloboma	ORPHA:3374
Proximal 16P11.2 Microduplication Syndrome	Decreased body mass index, Tremor, Compulsive behaviors, Bipolar affective disorder, Short statur...	ORPHA:370079
Cataract-Ataxia-Deafness Syndrome	Hypertonia, Tremor, Short stature, Developmental cataract, Ataxia	ORPHA:1368
Microphthalmia, Syndromic 9	Hypoplastic left atrium, Pelvic kidney, Truncus arteriosus, Ventricular septal defect, Bicornuate...	OMIM:601186
Spermatogenic Failure 85	Male infertility, Acephalic spermatozoa, Globozoospermia, Reduced progressive sperm motility, Coi...	OMIM:620490
Spastic Paraplegia 9B, Autosomal Recessive	Babinski sign, Tetraplegia, Tremor, Spasticity, Impaired distal vibration sensation, Gait disturb...	OMIM:616586
Spermatogenic Failure 28	Male infertility, Decreased testicular size, Elevated circulating follicle stimulating hormone le...	OMIM:618086
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism	Cataract, Hypogonadism	OMIM:254000
Myopathy With Extrapyramidal Signs	Optic atrophy, Difficulty walking, Hyperactivity, Peripheral axonal neuropathy, Chorea, Tremor, A...	OMIM:615673
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Large for gestational age, Agitation, Hyperinsulinemia, Diarrhea, Tremor, Increased body weight, ...	ORPHA:263455
Young-Onset Parkinson Disease	Bradykinesia, Agitation, Gait imbalance, Gastroparesis, Depression, Diarrhea, Spasticity, Tremor,...	ORPHA:2828
Oligodontia	Short dental root, Microdontia, Eclabion, Agenesis of maxillary lateral incisor, Taurodontia, Age...	ORPHA:99798
Zimmermann-Laband Syndrome	Supernumerary tooth, Hepatomegaly, Gingival fibromatosis, Anterior open-bite malocclusion, Hypodo...	ORPHA:3473
Cardiomyopathy, Familial Hypertrophic, 27	Ventricular septal hypertrophy, Concentric hypertrophic cardiomyopathy, Hypertrophic cardiomyopat...	OMIM:618052
48,Xxxy Syndrome	Irritability, Gastroesophageal reflux, Azoospermia, Hypoplasia of penis, Infertility, Tremor, Dec...	ORPHA:96263
Norrie Disease	Optic atrophy, Buphthalmos, Sensorineural hearing impairment, Corneal opacity, Hypoplasia of the ...	OMIM:310600
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5	Short stature, Gait imbalance, Lethargy	OMIM:618120
Gerstmann-Straussler Disease	Bradykinesia, Limb ataxia, Apraxia, Depression, Truncal ataxia, Emotional lability, Tremor, Cereb...	OMIM:137440
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures	Cerebral atrophy, Optic atrophy, Hypertonia, Limb hypertonia, Athetosis, Cerebellar atrophy, Trem...	OMIM:617710
Trisomy 13	Sensorineural hearing impairment, Long philtrum, Optic atrophy, Abnormal helix morphology, Postax...	ORPHA:3378
Microcoria, Congenital	Hypoplasia of the iris dilator muscle, Microcoria	OMIM:156600
Neovascular Glaucoma	Abnormal anterior chamber morphology, Corneal stromal edema, Rubeosis iridis, Conjunctival hypere...	ORPHA:94058
Wolf-Hirschhorn Syndrome	Sensorineural hearing impairment, Abnormal pinna morphology, Aplasia of the uterus, Biliary tract...	OMIM:194190
Carnitine Deficiency, Systemic Primary	Hepatomegaly, Dicarboxylic aciduria, Decreased circulating carnitine concentration, Cardiomyopath...	OMIM:212140
Corneal Dystrophy, Posterior Amorphous	Corneal dystrophy, Ectopia pupillae, Iris coloboma	OMIM:612868
Aromatase Deficiency	Male infertility, Macroorchidism, postpubertal, Hyperlipidemia, Enlarged polycystic ovaries, Hype...	ORPHA:91
Combined Oxidative Phosphorylation Deficiency 41	Cardiomegaly, Elevated circulating creatine kinase concentration	OMIM:618838
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency	Optic atrophy, Lower limb spasticity, Brain atrophy, Atrophy of the spinal cord, Upper motor neur...	ORPHA:395
Uruguay Faciocardiomusculoskeletal Syndrome	Left atrial enlargement, Ventricular hypertrophy, Cardiomyopathy, Elevated circulating creatine k...	OMIM:300280
Cri-Du-Chat Syndrome	Optic atrophy, Hypertonia, Difficulty walking, Hypospadias, Gastroesophageal reflux, Small for ge...	OMIM:123450
49,Xxxxy Syndrome	Irritability, Gastroesophageal reflux, Azoospermia, Hypoplasia of penis, Low frustration toleranc...	ORPHA:96264
Usher Syndrome Type 2	Abnormality of dental color, Abnormal dental enamel morphology, Sensorineural hearing impairment,...	ORPHA:231178
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome	Long philtrum, Hypospadias, Microcornea, 2-3 toe syndactyly, Precocious puberty, Sclerocornea, Ec...	OMIM:615877
Multiple Mitochondrial Dysfunctions Syndrome 1	Abnormality of extrapyramidal motor function, Spastic tetraparesis, Failure to thrive, Neonatal d...	OMIM:605711
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome	Delayed puberty, Decreased response to growth hormone stimulation test, Azoospermia, Hypergonadot...	ORPHA:280679
Aniridia 1	Corneal neovascularization, Aniridia, Corneal erosion, Optic nerve hypoplasia, Hypoplasia of the ...	OMIM:106210
Pseudopseudohypoparathyroidism	Short metatarsal, Delayed eruption of teeth, Short metacarpal, Pseudohypoparathyroidism, Enamel h...	OMIM:612463
Corneal Dystrophy, Posterior Polymorphous, 3	Keratoconus, Corneal dystrophy, Ectopia pupillae, Corneal guttata	OMIM:609141
Charcot-Marie-Tooth Disease Type 1F	Limb ataxia, Steppage gait, Decreased nerve conduction velocity, Inability to walk, Sensorineural...	ORPHA:101085
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome	Cataract, Obesity, Cryptorchidism, Hypogonadism	OMIM:601794
Thyroid Dyshormonogenesis 1	Constipation, Hypothyroidism, Growth delay, Goiter, Lethargy	OMIM:274400
Popliteal Pterygium Syndrome	Popliteal pterygium, Bifid scrotum, Cutaneous finger syndactyly, Cleft upper lip, Bifid uvula, Cl...	OMIM:119500
Microcephaly 20, Primary, Autosomal Recessive	Renal hypoplasia, Ureteral agenesis, Hypoplasia of the uterus, Vaginal atresia	OMIM:617914
Dilated Cardiomyopathy With Ataxia	Optic atrophy, Hypochromic microcytic anemia, Lower limb spasticity, Hypoplasia of penis, Atrophy...	ORPHA:66634
Mitochondrial Complex Iv Deficiency, Nuclear Type 20	Cardiomegaly, Hepatomegaly, Hyperalaninemia, Hyperprolinemia	OMIM:619064
Kufor-Rakeb Syndrome	Bradykinesia, Babinski sign, Hypertonia, Akinesia, Distal sensory impairment, Torticollis, Spasti...	OMIM:606693
Renal Cysts And Diabetes Syndrome	Elevated circulating creatinine concentration, Hypospadias, Unilateral renal agenesis, Hyperurice...	OMIM:137920
Combined Oxidative Phosphorylation Deficiency 52	Anorexia, Lethargy, Adrenal insufficiency	OMIM:619386
Vitamin B12-Responsive Methylmalonic Acidemia	Failure to thrive, Anemia, Lethargy	ORPHA:28
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency	Female external genitalia in individual with 46,XY karyotype, Ambiguous genitalia, male, Hypoplas...	ORPHA:90796
Benign Samaritan Congenital Myopathy	Fasciculations, Lethargy	ORPHA:324581
Flynn-Aird Syndrome	Carious teeth, Primary adrenal insufficiency, Ataxia, Type II diabetes mellitus, Abnormality of t...	ORPHA:2047
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia	Anorexia, Reticulocytosis, Short stature, Failure to thrive, Hepatosplenomegaly, Decreased mean c...	OMIM:611590
Corticobasal Syndrome	Bradykinesia, Akinesia, Limb apraxia, Oromotor apraxia, Progressive extrapyramidal muscular rigid...	ORPHA:454887
Tetraamelia Syndrome 1	Low-set ears, Hypoplasia of the fallopian tube, Hypoplastic pelvis, Asplenia, Cleft upper lip, Mi...	OMIM:273395
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Microcornea, Corneal opacity, Persistent pupillary membrane, Uveitis, Shallow anterior chamber, L...	OMIM:221900
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome	Difficulty walking, Progressive cerebellar ataxia, Depression, Dysdiadochokinesis, Tremor, Optic ...	ORPHA:502423
Spastic Paraplegia 9A, Autosomal Dominant	Spastic gait, Hoffmann sign, Babinski sign, Gastroesophageal reflux, Lower limb spasticity, Abnor...	OMIM:601162
Hirschsprung Disease-Ganglioneuroblastoma Syndrome	Aganglionic megacolon, Abnormal pupil morphology	ORPHA:2151
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2	Hypospadias, Gastroparesis, Tremor, Intrauterine growth retardation, Intention tremor, Growth del...	OMIM:614052
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract	Optic atrophy, Decreased nerve conduction velocity, Sensorineural hearing impairment, Subcapsular...	OMIM:612674
Lethal Infantile Mitochondrial Myopathy	Lethargy	ORPHA:254857
3-Hydroxy-3-Methylglutaric Aciduria	Anorexia, Anemia, Episodic vomiting, Spastic hemiparesis, Diarrhea, Spasticity, Leukocytosis, Leu...	ORPHA:20
Meningococcal Meningitis	Anorexia, Irritability, Projectile vomiting, Increased circulating procalcitonin concentration, P...	ORPHA:33475
Microphthalmia With Brain And Digit Anomalies	Proximal placement of thumb, Finger syndactyly, Sensorineural hearing impairment, Microcornea, Hi...	ORPHA:139471
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function	Pituitary dwarfism, Decreased thyroid-stimulating hormone level, Optic nerve hypoplasia, Thyroid ...	ORPHA:226307
Combined Oxidative Phosphorylation Deficiency 8	Cardiomegaly, Hypertrophic cardiomyopathy	OMIM:614096
Infantile Sialic Acid Storage Disease	Hepatomegaly, Nephrotic syndrome, Splenomegaly, Conjugated hyperbilirubinemia, Cardiomegaly	OMIM:269920
Pearson Marrow-Pancreas Syndrome	Anorexia, Steatorrhea, Anemia, Refractory sideroblastic anemia, Pancytopenia, Chronic diarrhea, R...	OMIM:557000
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia	Inability to walk, Hyperactivity, Brain atrophy, Spasticity, Tremor, Motor stereotypy, Self-injur...	OMIM:618718
Neurodegeneration And Seizures Due To Copper Transport Defect	Cerebral atrophy, Limb hypertonia, Glandular hypospadias, Cerebellar atrophy, Lethargy	OMIM:620306
Cerebral Creatine Deficiency Syndrome 2	Hypertonia, Episodic vomiting, Lower limb spasticity, Tremor, Paraparesis, Progressive extrapyram...	OMIM:612736
Autosomal Dominant Optic Atrophy Plus Syndrome	Optic atrophy, Temporal optic disc pallor, Sensorineural hearing impairment, Absent brainstem aud...	ORPHA:1215
Leukodystrophy, Hypomyelinating, 11	Spasticity, Tremor, Cerebellar atrophy, Failure to thrive, Ataxia, Myoclonus	OMIM:616494
Congenital Disorder Of Glycosylation, Type Ia	Premature ovarian insufficiency, Steatorrhea, Cerebellar vermis hypoplasia, Diarrhea, Tremor, Cer...	OMIM:212065
Warburg Micro Syndrome 2	Optic atrophy, Postnatal growth retardation, Global brain atrophy, Microcornea, Cataract, Develop...	OMIM:614225
Progeria-Short Stature-Pigmented Nevi Syndrome	Delayed puberty, Premature ovarian insufficiency, Neoplasm of the pancreas, Hypospadias, Episodic...	ORPHA:2959
Borjeson-Forssman-Lehmann Syndrome	Hypoplasia of penis, Cataract, Decreased testicular size, Short stature, Hypogonadism, Small scro...	ORPHA:127
Multiple Synostoses Syndrome 1	Radial deviation of finger, Proximal/middle symphalangism of 5th toe, Dislocated radial head, Sho...	OMIM:186500
Partial Androgen Insensitivity Syndrome	Clitoral hypertrophy, Increased circulating antimullerian hormone concentration, Aplasia of the u...	ORPHA:90797
Hypercalcemia, Infantile, 1	Vomiting, Failure to thrive, Weight loss, Decreased circulating parathyroid hormone level, Lethargy	OMIM:143880
Biotinidase Deficiency	Optic atrophy, Diarrhea, Vomiting, Diffuse cerebral atrophy, Ataxia, Splenomegaly, Diffuse cerebe...	OMIM:253260
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome	Spastic gait, Progressive cerebellar ataxia, Episodic vomiting, Impaired vibratory sensation, Clo...	ORPHA:415
Generalized Epilepsy With Febrile Seizures-Plus	Bradykinesia, Obsessive-compulsive trait, Incoordination, Generalized cerebral atrophy/hypoplasia...	ORPHA:36387
Sponastrime Dysplasia	Short long bone, Congenital aphakia, Short dental root, Microdontia, Metaphyseal irregularity, Fl...	ORPHA:93357
Congenital Myopathy 8	Cardiomegaly	OMIM:618654
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome	Bradykinesia, Cerebral atrophy, Hypertonia, Hemiballismus, Inability to walk, Gastroparesis, Trun...	OMIM:618877
Gm1 Gangliosidosis	Optic atrophy, Generalized dystonia, Gastroesophageal reflux, Abnormality of extrapyramidal motor...	ORPHA:354
N-Acetylglutamate Synthase Deficiency	Anorexia, Hypertonia, Vomiting, Failure to thrive, Lethargy, Aggressive behavior	OMIM:237310
Congenital Fibrosis Of Extraocular Muscles	Torticollis, Optic nerve hypoplasia, Finger aplasia, Anisocoria, Congenital sensorineural hearing...	ORPHA:45358
Leukodystrophy, Hypomyelinating, 6	Optic atrophy, Oculomotor apraxia, Spasticity, Tremor, Cerebellar atrophy, Short stature, Rigidit...	OMIM:612438
Osteopetrosis, Autosomal Recessive 5	Optic atrophy, Mydriasis, Hip subluxation, Hepatomegaly, Anemia, Hypochromic microcytic anemia, S...	OMIM:259720
Microspherophakia And/Or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma	Iridodonesis, Deep anterior chamber, Microspherophakia, High palate, Megalocornea, Abnormality of...	OMIM:251750
Angioedema, Hereditary, 1	Axonal degeneration, Diarrhea, Peripheral axonal neuropathy, Vomiting, Hypoesthesia	OMIM:106100
Estrogen Resistance Syndrome	Breast hypoplasia, Increased circulating gonadotropin level, Hypoplasia of the uterus, Enlarged p...	ORPHA:785
Complete Androgen Insensitivity Syndrome	Blind vagina, Female external genitalia in individual with 46,XY karyotype, Male infertility, Del...	ORPHA:99429
Estrogen Resistance	Polycystic ovaries, Hypoplasia of the uterus, Breast aplasia	OMIM:615363
Phacoanaphylactic Uveitis	Abnormal corneal endothelium morphology, Hypopyon, Corneal stromal edema, Posterior uveitis, Ante...	ORPHA:209959
Aarskog-Scott Syndrome	Delayed puberty, Bilateral cryptorchidism, Short stature, Failure to thrive, Elevated circulating...	OMIM:305400
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities	Hypertonia, Impaired tactile sensation, Brain atrophy, Tremor, Gait ataxia, Ataxia, Motor stereot...	OMIM:619092
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction	Narrow palate, Contracture of the proximal interphalangeal joint of the 4th finger, Decreased res...	OMIM:618223
Carnitine Palmitoyl Transferase 1A Deficiency	Hemiplegia/hemiparesis, Transient hyperlipidemia, Lethargy	ORPHA:156
Stickler Syndrome, Type Ii	High, narrow palate, Sensorineural hearing impairment, Arachnodactyly, Long fingers, Bifid uvula,...	OMIM:604841
Renal And Mullerian Duct Hypoplasia	Aplasia of the uterus, Anteriorly displaced urethral meatus, Renal hypoplasia, Horseshoe kidney, ...	OMIM:266810
Cushing Disease	Optic nerve compression, Decreased eosinophil count, Intra-oral hyperpigmentation, Increased urin...	ORPHA:96253
Hereditary Late-Onset Parkinson Disease	Bradykinesia, Agitation, Akinesia, Depression, Low frustration tolerance, Gliosis, Parkinsonism w...	ORPHA:411602
Linear Skin Defects With Multiple Congenital Anomalies 1	Clitoral hypertrophy, Hypoplasia of the uterus, Hypospadias, Ovotestis, Hearing impairment, Chord...	OMIM:309801
Dihydropyrimidinase Deficiency	Hyperactivity, Growth delay, Failure to thrive, Extrapyramidal dyskinesia, Abnormal pyramidal sig...	OMIM:222748
Maternal Uniparental Disomy Of Chromosome 4	Spastic gait, Optic atrophy, Chaddock reflex, Impaired proprioception, Postnatal growth retardati...	ORPHA:96180
Amyloidosis, Hereditary, Transthyretin-Related	Limb ataxia, Episodic vomiting, Diarrhea, Truncal ataxia, Peripheral axonal neuropathy, Paraplegi...	OMIM:105210
Deafness-Intellectual Disability Syndrome, Martin-Probst Type	Thick lower lip vermilion, Hypoplasia of penis, Pancytopenia, Sensorineural hearing impairment, B...	ORPHA:85321
Kufor-Rakeb Syndrome	Bradykinesia, Babinski sign, Hypertonia, Difficulty walking, Oculogyric crisis, Lingual dystonia,...	ORPHA:306674
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)	Cerebral atrophy, Hypospadias, Gastroesophageal reflux, Cerebellar atrophy, Growth delay, Failure...	OMIM:615471
Triploidy	Abnormality of the gallbladder, Hepatomegaly, Hypospadias, Low-set, posteriorly rotated ears, Hyp...	ORPHA:3376
Combined Oxidative Phosphorylation Deficiency 10	Hyperalaninemia, Hypertrophic cardiomyopathy, Pericardial effusion, Hyperammonemia, Cardiomegaly	OMIM:614702
Bone Marrow Failure Syndrome 5	Anemia, Erythroid hypoplasia, Short stature, Pure red cell aplasia, Growth delay, Hypogonadism, T...	OMIM:618165
Methylmalonic Aciduria And Homocystinuria, Cbld Type	Increased mean corpuscular volume, Megaloblastic anemia, Cerebral cortical atrophy, Dystonia, Spa...	OMIM:277410
Amoebiasis Due To Free-Living Amoebae	Irritability, Abnormality of the adrenal glands, Increased red blood cell count, Corneal ulcerati...	ORPHA:68
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome	Orthostatic hypotension, Short philtrum, Anisocoria, Hearing impairment, Downturned corners of mo...	OMIM:615510
Codas Syndrome	Delayed eruption of teeth, Abnormal dental enamel morphology, Sensorineural hearing impairment, A...	ORPHA:1458
Idiopathic Congenital Hypothyroidism	Constipation, Elevated circulating thyroid-stimulating hormone concentration, Lethargy, Decreased...	ORPHA:95717
Ectodermal Dysplasia-Syndactyly Syndrome 2	Cardiomegaly	OMIM:613576
Familial Thyroid Dyshormonogenesis	Elevated circulating thyroid-stimulating hormone concentration, Congenital hypothyroidism, Consti...	ORPHA:95716
Norrie Disease	Delayed puberty, Aplasia/Hypoplasia of the lens, Sensorineural hearing impairment, Corneal opacit...	ORPHA:649
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Fasting hyperinsulinemia, Diarrhea, Proportionate short stature, Vomiting, Failure to thrive, Int...	ORPHA:71212
Uveal Melanoma	Mydriasis, Inferior lens subluxation, Zonular cataract, Ciliary body melanoma, Iris melanoma	ORPHA:39044
Spermatogenic Failure 6	Male infertility, Globozoospermia, Decreased acrosin in sperm head	OMIM:102530
Maple Syrup Urine Disease, Type Ia	Vomiting, Hypertonia, Ataxia, Lethargy	OMIM:248600
Cushing Syndrome Due To Ectopic Acth Secretion	Pheochromocytoma, Adrenal hyperplasia, Pulmonary carcinoid tumor, Lymphopenia, Medullary thyroid ...	ORPHA:99889
Leukoencephalopathy With Calcifications And Cysts	Emotional lability, Spasticity, Tremor, Gait disturbance, Cerebellar dentate nucleus calcificatio...	ORPHA:542310
Febrile Infection-Related Epilepsy Syndrome	Lethargy	ORPHA:163703
Mogs-Cdg	Optic atrophy, Retrognathia, External genital hypoplasia, Hepatomegaly, Sensorineural hearing imp...	ORPHA:79330
Hereditary Bullous Dystrophy, Macular Type	External genital hypoplasia, Corneal opacity, Decreased testicular size, Short stature, Growth de...	ORPHA:1867
Peters-Plus Syndrome	Bilobate gallbladder, Square pelvis bone, Proximal placement of thumb, Hypoplastic labia majora, ...	OMIM:261540
Woodhouse-Sakati Syndrome	Elevated circulating thyroid-stimulating hormone concentration, Sensorineural hearing impairment,...	OMIM:241080
Micro Syndrome	Optic atrophy, Delayed puberty, Hypoplasia of penis, Cerebellar vermis hypoplasia, Microcornea, H...	ORPHA:2510
Dystonia 1, Torsion, Autosomal Dominant	Babinski sign, Hypertonia, Oromandibular dystonia, Inability to walk, Writer's cramp, Torticollis...	OMIM:128100
Hyperlysinuria With Hyperammonemia	Growth delay, Lethargy	OMIM:238750
Attrv122I Amyloidosis	Increased circulating NT-proBNP concentration, Cardiac amyloidosis, Restrictive cardiomyopathy, H...	ORPHA:85451
Cenani-Lenz Syndrome	Oligodactyly, Hip dislocation, Hypoplasia of the ulna, Hypoplasia of the radius, Abnormal metacar...	ORPHA:3258
Celiac Disease, Susceptibility To, 1	Delayed puberty, Postnatal growth retardation, Steatorrhea, Iron deficiency anemia, Macrocytic an...	OMIM:212750
Microphthalmia, Lenz Type	Orofacial cleft, Abnormal shoulder morphology, Clinodactyly of the 5th finger, Hypospadias, Low-s...	ORPHA:568
Galactosemia I	Premature ovarian insufficiency, Diarrhea, Hypergonadotropic hypogonadism, Vomiting, Failure to t...	OMIM:230400
Aromatic L-Amino Acid Decarboxylase Deficiency	Irritability, Babinski sign, Gastroesophageal reflux, Oculogyric crisis, Diarrhea, Limb hypertoni...	ORPHA:35708
Woodhouse-Sakati Syndrome	Delayed puberty, Decreased response to growth hormone stimulation test, Hypoplasia of the uterus,...	ORPHA:3464
Mitochondrial Complex Iv Deficiency, Nuclear Type 7	Ventricular hypertrophy, Hyperalaninemia, Hypertrophic cardiomyopathy, Hyperammonemia, Cardiomegaly	OMIM:619051
Trichothiodystrophy 3, Photosensitive	Hypertonia, Bilateral cryptorchidism, Short stature, Failure to thrive, Developmental cataract, L...	OMIM:616395
Oculocerebral Hypopigmentation Syndrome, Cross Type	Abnormal thumb morphology, Abnormal palate morphology, Anemia, Sensorineural hearing impairment, ...	ORPHA:2719
Neuhauser Syndrome	Corneal arcus, Iris transillumination defect, Iridodonesis, Genu valgum, Primary hypothyroidism, ...	OMIM:249310
Histiocytoid Cardiomyopathy	Optic atrophy, Corneal opacity, Congenital aphakia, Megalocornea, Vomiting, Failure to thrive, Ce...	ORPHA:137675
Hydatidiform Mole	Enlarged uterus	ORPHA:99927
Cleidocranial Dysplasia	Chronic otitis media, Glossoptosis, Sinusitis, Abnormal epiphysis morphology, Abnormal metacarpal...	ORPHA:1452
Scalp-Ear-Nipple Syndrome	Small earlobe, Microtia, Underdeveloped tragus, Broad thumb, Bifid uvula, Developmental cataract,...	OMIM:181270
Cerebrooculofacioskeletal Syndrome 2	Intrauterine growth retardation, Cataract, Growth delay, Developmental cataract, Small scrotum, M...	OMIM:610756
Kniest Dysplasia	Recurrent otitis media, Flared metaphysis, Splayed epiphyses, Delayed epiphyseal ossification, Ti...	OMIM:156550
Miller Fisher Syndrome	Mydriasis, Facial palsy, Anisocoria, Ataxia, EEG with generalized slow activity	ORPHA:98919
Neurodegeneration With Brain Iron Accumulation 5	Bradykinesia, Cerebral atrophy, Akinesia, Tremor, Cerebellar atrophy, Rigidity, Dystonia, Parkins...	OMIM:300894
Resistance To Thyrotropin-Releasing Hormone Syndrome	Reduced circulating prolactin concentration, Depression, Pituitary hypothyroidism, Thyroid hypopl...	ORPHA:99832
Parkinsonism-Dystonia 1, Infantile-Onset	Bradykinesia, Hypertonia, Hyperkinetic movements, Oromandibular dystonia, Oculogyric crisis, Gast...	OMIM:613135
Isolated Complex I Deficiency	Optic neuropathy, Vomiting, Failure to thrive, Ataxia, Intrauterine growth retardation, Diabetes ...	ORPHA:2609
Zellweger Syndrome	Abnormal chorioretinal morphology, Optic atrophy, Clitoral hypertrophy, Jaundice, Hepatomegaly, H...	ORPHA:912
Combined Oxidative Phosphorylation Deficiency 11	Stillbirth, Tongue fasciculations, Cerebral cortical atrophy, Neonatal death, Myoclonus, Lethargy	OMIM:614922
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies	Difficulty walking, Supernumerary nipple, 2-3 toe syndactyly, High palate, Overfolded helix, Low-...	OMIM:618653
Revesz Syndrome	Aplastic anemia, Macrocytic anemia, Broad-based gait, Megalocornea, Bone marrow hypocellularity, ...	OMIM:268130
Tetraamelia-Multiple Malformations Syndrome	Optic atrophy, Orofacial cleft, Microcornea, Microtia, Narrow mouth, Aplasia/Hypoplasia involving...	ORPHA:3301
X-Linked Intellectual Disability, Cabezas Type	Broad-based gait, Hyperactivity, Hypoplasia of penis, Cachexia, Tremor, Decreased testicular size...	ORPHA:85293
Autosomal Recessive Spastic Paraplegia Type 5A	Limb ataxia, Babinski sign, Lower limb spasticity, Truncal ataxia, Atrophy of the spinal cord, Ab...	ORPHA:100986
Spermatogenic Failure 14	Abnormal circulating luteinizing hormone concentration, Male infertility, Abnormal circulating te...	OMIM:615842
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis	Atrophy/Degeneration involving the spinal cord, Gastroparesis, Positive Romberg sign, Impaired di...	OMIM:607459
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2	Limb ataxia, Pontocerebellar atrophy, Impaired proprioception, Chronic axonal neuropathy, Oculomo...	OMIM:606002
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism	Postnatal growth retardation, Decreased response to growth hormone stimulation test, Decreased ci...	OMIM:300845
Cerebrotendinous Xanthomatosis	Cerebral atrophy, Xanthelasma, Babinski sign, Difficulty walking, Cholelithiasis, Diarrhea, Abnor...	OMIM:213700
Mucopolysaccharidosis Type 4	Abnormal metaphysis morphology, Grayish enamel, Genu valgum, Abnormal dental enamel morphology, C...	ORPHA:582
Methylmalonic Aciduria And Homocystinuria, Cblf Type	Anemia, Pancytopenia, Stomatitis, Incoordination, Megaloblastic anemia, Short stature, Failure to...	OMIM:277380
8Q21.11 Microdeletion Syndrome	Abnormal metacarpal morphology, Short philtrum, Hypoplasia of penis, Finger syndactyly, Low-set e...	ORPHA:284160
Oculo-Palato-Cerebral Syndrome	High, narrow palate, Macrotia, Cleft palate, Leukocoria, Cataract, Thickened helices, Short foot,...	ORPHA:2714
Parkinson Disease, Late-Onset	Bradykinesia, Substantia nigra gliosis, Depression, Neuronal loss in central nervous system, Rest...	OMIM:168600
Carnitine Palmitoyltransferase I Deficiency	Hepatomegaly, Dicarboxylic aciduria, Renal tubular acidosis, Transient hyperlipidemia, Elevated c...	OMIM:255120
Isovaleric Acidemia	Pancytopenia, Vomiting, Leukopenia, Thrombocytopenia, Lethargy	OMIM:243500
Bardet-Biedl Syndrome 1	Radial deviation of finger, Dental crowding, Biliary tract abnormality, Ataxia, Syndactyly, Hypog...	OMIM:209900
Short Syndrome	Astigmatism, Radial deviation of finger, Slender long bone, Delayed eruption of teeth, Hypodontia...	OMIM:269880
45,X/46,Xy Mixed Gonadal Dysgenesis	Delayed puberty, Ambiguous genitalia, male, Developmental glaucoma, Bifid scrotum, Hypospadias, A...	ORPHA:1772
Spinocerebellar Ataxia, Autosomal Recessive 30	Cerebral atrophy, Tremor, Cerebellar atrophy, Compulsive behaviors, Titubation, Ataxia, Unsteady ...	OMIM:619405
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Exercise-induced myoglobinuria, Hepatomegaly, Dicarboxylic aciduria, Decreased circulating carnit...	OMIM:201475
Wagro Syndrome	Hypoplastic female external genitalia, Agitation, Aniridia, Emotional lability, Low frustration t...	OMIM:612469
Steinert Myotonic Dystrophy	Facial diplegia, Impotence, Aggressive behavior, Decreased response to growth hormone stimulation...	ORPHA:273
Chromosome 16Q12 Duplication Syndrome	Cataract, Temporal optic disc pallor, Anisocoria	OMIM:619649
Marshall Syndrome	Small proximal tibial epiphyses, Sensorineural hearing impairment, Bifid uvula, Irregular femoral...	OMIM:154780
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease	Decreased nerve conduction velocity, Aganglionic megacolon, Torticollis, Short-segment aganglioni...	OMIM:609136
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1	Delayed puberty, Postnatal growth retardation, Steatorrhea, Cerebellar atrophy, Hypothyroidism, F...	OMIM:616263
Full Schwannomatosis	Peripheral schwannoma, Paresthesia, Fasciculations, Schwannoma, Cataract, Neoplasm of the anterio...	ORPHA:93921
Alobar Holoprosencephaly	Abnormality of the endocrine system, Limb dystonia, Dysphagia, Abnormal hypothalamus physiology, ...	ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly	Abnormality of the endocrine system, Limb dystonia, Dysphagia, Abnormal hypothalamus physiology, ...	ORPHA:93926
Lobar Holoprosencephaly	Abnormality of the endocrine system, Limb dystonia, Dysphagia, Abnormal hypothalamus physiology, ...	ORPHA:93924
Myhre Syndrome	Gingival cleft, Large iliac wing, Bifid uvula, Unilateral cleft lip, Hypogonadism, Abnormal epiph...	ORPHA:2588
Semilobar Holoprosencephaly	Abnormality of the endocrine system, Limb dystonia, Dysphagia, Abnormal hypothalamus physiology, ...	ORPHA:220386
Cochleosaccular Degeneration-Cataract Syndrome	Cataract, Cochlear degeneration, Ataxia, Progressive sensorineural hearing impairment	ORPHA:3233
Abcd Syndrome	Aganglionic megacolon, Total intestinal aganglionosis, Abnormal auditory evoked potentials, Heari...	OMIM:600501
Cowden Syndrome 5	Thyroiditis, High palate, Furrowed tongue, Narrow mouth, Intention tremor, Hypoplasia of the maxi...	OMIM:615108
3-Methylglutaconic Aciduria, Type Viib	Cerebral atrophy, Hyperkinetic movements, Rhizomelia, Spasticity, Tremor, Cerebellar atrophy, Zon...	OMIM:616271
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome	Optic atrophy, Difficulty walking, Oculomotor apraxia, Spasticity, Tremor, Cerebellar atrophy, Ga...	ORPHA:529665
Traboulsi Syndrome	Short finger, Retrognathia, Spherophakia, Phakodonesis, Iris atrophy, High palate, Arachnodactyly...	OMIM:601552
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of	Sutural cataract, Failure to thrive, Ataxia, Abnormal pyramidal sign, Lethargy	OMIM:201470
Diamond-Blackfan Anemia	Developmental glaucoma, Elevated red cell adenosine deaminase activity, Hypospadias, Normochromic...	ORPHA:124
Intellectual Developmental Disorder, X-Linked, Syndromic 35	Hypospadias, Gastroesophageal reflux, Tremor, Bilateral cryptorchidism, Gait ataxia, Decreased te...	OMIM:300998
Nance-Horan Syndrome	Supernumerary tooth, Protruding ear, Microcornea, Mandibular prognathia, Short metacarpal, Abnorm...	ORPHA:627
Cirrhotic Cardiomyopathy	Left atrial enlargement, Abnormal circulating B-type natriuretic peptide concentration, Hepatomeg...	ORPHA:57777
Mend Syndrome	2-3 toe syndactyly, High palate, Abnormal auditory evoked potentials, Low-set ears, Asymmetry of ...	ORPHA:401973
Familial Atrial Myxoma	Cardiomegaly, Bacterial endocarditis, Pulmonic valve myxoma, Cardiac myxoma	ORPHA:615
Congenital Disorder Of Glycosylation, Type Ij	Hypertonia, Tremor, Cataract, Cryptorchidism, Aggressive behavior	OMIM:608093
Combined Oxidative Phosphorylation Deficiency 32	Optic atrophy, Inability to walk, Gastroesophageal reflux, Spasticity, Tremor, Cerebellar atrophy...	OMIM:617664
Congenitally Uncorrected Transposition Of The Great Arteries	Abnormal ventriculoarterial connection, Hepatomegaly, Ventricular septal defect, Anomalous pulmon...	ORPHA:860
Parkinson Disease 14, Autosomal Recessive	Frontotemporal cerebral atrophy, Rigidity, Clumsiness, Aggressive behavior, Pill-rolling tremor, ...	OMIM:612953
Neurodegeneration With Brain Iron Accumulation 1	Hyperactivity, Rigidity, Ataxia, Dysphagia, Motor tics, Acanthocytosis, Optic atrophy, Babinski s...	OMIM:234200
Aceruloplasminemia	Limb ataxia, Akinesia, Hypochromic microcytic anemia, Abnormal pancreas morphology, Torticollis, ...	ORPHA:48818
Cowden Syndrome 6	Thyroiditis, High palate, Furrowed tongue, Narrow mouth, Intention tremor, Hypoplasia of the maxi...	OMIM:615109
Alexander Disease	Depression, Emotional lability, Chorea, Tetraplegia, Facial palsy, Tremor, Gait disturbance, Bowe...	ORPHA:58
Perry Syndrome	Bradykinesia, Inappropriate behavior, Akinesia, Depression, Tremor, Rigidity, Dystonia, Disinhibi...	OMIM:168605
1Q41Q42 Microdeletion Syndrome	Abnormality iris morphology, Hypergonadotropic hypogonadism, Hyposegmentation of neutrophil nucle...	ORPHA:250999
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Diarrhea, Vomiting, Failure to thrive, Thrombocytopenia, Leukopenia, Lethargy, Neutropenia	OMIM:251000
Hydrolethalus Syndrome 1	Stillbirth, Adrenal gland dysgenesis, Hypospadias, Accessory spleen, Upper limb undergrowth, Abno...	OMIM:236680
Mullerian Aplasia And Hyperandrogenism	Unilateral renal agenesis, Aplasia of the vagina, Abnormal external genitalia, Aplasia of the ute...	OMIM:158330
Cadds	Cholangitis, Sensorineural hearing impairment, Adrenal hypoplasia, Cholestasis, Micrognathia, Dys...	ORPHA:369942
Peters Plus Syndrome	Corneal opacity, Wide mouth, Long philtrum, Anterior chamber synechiae, Optic atrophy, Hypospadia...	ORPHA:709
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Cerebral atrophy, Optic atrophy, Stomatitis, Megaloblastic anemia, Atrophy of the spinal cord, Po...	ORPHA:79282
Parkinson Disease 1, Autosomal Dominant	Bradykinesia, Global brain atrophy, Depression, Resting tremor, Gliosis, Shuffling gait, Gait dis...	OMIM:168601
Thrombocytopenia-Absent Radius Syndrome	Sensorineural hearing impairment, Aplasia of the uterus, Broad thumb, Aplasia/hypoplasia of the h...	ORPHA:3320
19Q13.11 Microdeletion Syndrome	Retrognathia, Thin vermilion border, Clinodactyly of the 5th finger, Hypospadias, Solitary median...	ORPHA:217346
Mitochondrial Trifunctional Protein Deficiency	Tip-toe gait, Babinski sign, Hypoparathyroidism, Frequent falls, Failure to thrive in infancy, Le...	ORPHA:746
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Hypoparathyroidism, Cholelithiasis, Chronic active hepatitis, Keratoconjunctivitis, Asplenia, Fem...	OMIM:240300
Jaberi-Elahi Syndrome	Optic atrophy, Inability to walk, Broad-based gait, Appendicular spasticity, Dandy-Walker malform...	OMIM:617988
Methylmalonic Aciduria, Cbla Type	Anemia, Pancytopenia, Tremor, Vomiting, Failure to thrive, Thrombocytopenia, Lethargy, Neutropenia	OMIM:251100
Intellectual Developmental Disorder, X-Linked, Syndromic 17	Abnormality of adrenal physiology, Anisocoria	OMIM:300858
Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To	Irritability, Episodic ataxia, Vomiting, Failure to thrive, Ataxia, Lethargy	OMIM:311250
Atypical Progressive Supranuclear Palsy Syndrome	Bradykinesia, Inappropriate behavior, Oculomotor apraxia, Falls, Tremor by anatomical site, Freez...	ORPHA:99750
Hereditary Amyloidosis With Primary Renal Involvement	Intestinal obstruction, Male infertility, Gastrointestinal hemorrhage, Primary testicular failure...	ORPHA:85450
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Hypocalcemic seizures, Hypoparathyroidism, Unilateral renal agenesis, Hypocalcemia, Polycystic ki...	ORPHA:2237
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Dental crowding, Sensorineural hearing impairment, Iris atrophy, Bifid scrotum, Abnormal jaw morp...	ORPHA:261552
Spermatogenic Failure 9	Male infertility, Globozoospermia	OMIM:613958
Spermatogenic Failure 67	Male infertility, Globozoospermia	OMIM:619803
Spermatogenic Failure 68	Male infertility, Globozoospermia	OMIM:619805
Spermatogenic Failure 69	Male infertility, Globozoospermia	OMIM:619826
Spermatogenic Failure 66	Male infertility, Globozoospermia	OMIM:619799
Porphyria Due To Ala Dehydratase Deficiency	Agitation, Difficulty walking, Abnormal fear-induced behavior, Episodic vomiting, Depression, Dia...	ORPHA:100924
Choreoacanthocytosis	Socially inappropriate behavior, Hair-pulling, Hyperactivity, Head-banging, Chorea, Abnormal eryt...	ORPHA:2388
Trisomy 10P	Retrognathia, Orofacial cleft, Thin vermilion border, Rectovaginal fistula, EEG with burst suppre...	ORPHA:171929
Witteveen-Kolk Syndrome	Radial deviation of finger, Proximal placement of thumb, Sensorineural hearing impairment, Arachn...	OMIM:613406
Developmental Malformations-Deafness-Dystonia Syndrome	Orofacial cleft, Generalized dystonia, Femoral retroversion, Sensorineural hearing impairment, Ca...	ORPHA:79107
Xeroderma Pigmentosum, Complementation Group B	Optic atrophy, Cerebellar atrophy, Short stature, Ataxia, Hypogonadism, Cataract	OMIM:610651
Mevalonic Aciduria	Cerebral atrophy, Fluctuating splenomegaly, Anemia, Progressive cerebellar ataxia, Diarrhea, Cere...	OMIM:610377
Corneal Dystrophy, Posterior Polymorphous, 4	Ectopia pupillae	OMIM:618031
Riboflavin Deficiency	Lethargy	OMIM:615026
Treacher-Collins Syndrome	Retrognathia, Hypoplasia of penis, Microtia, Glossoptosis, Thyroid hypoplasia, Tooth agenesis, Wi...	ORPHA:861
Congenital Toxoplasmosis	Cardiomegaly, Hepatomegaly	ORPHA:858
Pseudohypoparathyroidism, Type Ia	Short finger, Elevated circulating parathyroid hormone level, Short metatarsal, Delayed eruption ...	OMIM:103580
Classic Progressive Supranuclear Palsy Syndrome	Bradykinesia, Akinesia, Gait imbalance, Falls, Progressive extrapyramidal muscular rigidity, Axia...	ORPHA:240071
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency	Vomiting, Failure to thrive, Opisthotonus, Lethargy	OMIM:210200
Superficial Siderosis	Abnormality of the vestibulocochlear nerve, Limb ataxia, Dysdiadochokinesis, Bilateral sensorineu...	ORPHA:247245
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Vomiting, Obesity, Small for gestational age, Increased circulating free fatty acid level, Overwe...	ORPHA:26793
Peroxisome Biogenesis Disorder 2A (Zellweger)	Optic nerve dysplasia, Clitoral hypertrophy, Jaundice, Hepatomegaly, Intrahepatic biliary dysgene...	OMIM:214110
Pediatric-Onset Graves Disease	Polydipsia, Irritability, Increased circulating T4 concentration, Increased circulating free T3, ...	ORPHA:525731
Trichinellosis	Irritability, Babinski sign, Facial palsy, Anisocoria, Conjunctival hyperemia, Nausea, Hemiparesi...	ORPHA:863
Harrod Syndrome	Protruding ear, Abnormal shoulder morphology, Hypospadias, High palate, Abnormal pelvic girdle bo...	ORPHA:2115
Persistent Hyperplastic Primary Vitreous	Microcornea, Corneal opacity, Persistent pupillary membrane, Shallow anterior chamber, Developmen...	ORPHA:91495
Pseudohypoparathyroidism, Type Ic	Elevated circulating thyroid-stimulating hormone concentration, Elevated circulating parathyroid ...	OMIM:612462
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Persistent pupillary membrane, Cleft upper lip, Cleft palate, Cataract, Buphthalmos, Peters anoma...	OMIM:613150
Citrullinemia, Classic	Irritability, Vomiting, Failure to thrive, Ataxia, Lethargy	OMIM:215700
Cowden Syndrome 1	Thyroiditis, High palate, Furrowed tongue, Narrow mouth, Intention tremor, Hypoplasia of the maxi...	OMIM:158350
Microphthalmia, Isolated, With Corectopia	Ectopia pupillae	OMIM:156900
Alpha-Mannosidosis, Adult Form	Pancytopenia, Depression, Clumsiness, Subcortical cerebral atrophy, Cerebellar atrophy, Corneal o...	ORPHA:309288
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18	Cerebral atrophy, Difficulty walking, Hyperkinetic movements, Inability to walk, Truncal ataxia, ...	OMIM:615356
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome	Abnormal atrioventricular valve morphology, Aortic valve stenosis, Mitral valve prolapse, Cardiom...	ORPHA:324410
Aniridia 2	Optic atrophy, Aniridia, Cataract, Lens subluxation, Iris coloboma	OMIM:617141
Lumbar Syndrome	Hypospadias, Vesicoureteral reflux, Bifid scrotum, Bifid uterus, Bladder exstrophy, Ambiguous gen...	ORPHA:83628
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Abnormality of the endocrine system, Premature thelarche, Ataxia, Dysphagia, Intrauterine growth ...	ORPHA:268261
Mitochondrial Dna Depletion Syndrome 20 (Mngie Type)	Cerebellar atrophy, Involuntary movements, Abnormal pyramidal sign, Dysphagia, Myoclonus, Catarac...	OMIM:619780
Leukoencephalopathy-Spondyloepimetaphyseal Dysplasia Syndrome	Cerebral atrophy, Tip-toe gait, Abnormal astrocyte morphology, Babinski sign, Tremor, Gait distur...	ORPHA:83629
Necrotizing Enterocolitis	Diarrhea, Bloody diarrhea, Leukocytosis, Vomiting, Thrombocytopenia, Peritonitis, Small for gesta...	ORPHA:391673
Brain Dopamine-Serotonin Vesicular Transport Disease	Hypertonia, Oculogyric crisis, Dysdiadochokinesis, Tremor, Shuffling gait, Spastic tetraparesis, ...	ORPHA:352649
Cockayne Syndrome	Delayed puberty, Cachexia, Cerebellar atrophy, Cerebellar dentate nucleus calcification, Action t...	ORPHA:191
Staphylococcal Necrotizing Pneumonia	Leukocytosis, Increased circulating procalcitonin concentration, Neutrophilia, Leukopenia, Addict...	ORPHA:36238
Neuraminidase Deficiency	Hepatomegaly, Cardiomyopathy, Urinary excretion of sialylated oligosaccharides, Splenomegaly, Pro...	OMIM:256550
Blepharophimosis, Ptosis, And Epicanthus Inversus	Microcornea, High palate, Increased circulating gonadotropin level, Hypoplasia of the uterus, Cup...	OMIM:110100
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Abnormality of extrapyramidal motor function, Megaloblastic anemia, Tremor, Cerebral cortical atr...	OMIM:277400
Multiple Mitochondrial Dysfunctions Syndrome 7	Irritability, Agitation, Hypertonia, Ankle clonus, Hyperactivity, Impulsivity, Exaggerated startl...	OMIM:620423
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Delayed puberty, Hyperactivity, Bifid scrotum, Cerebral palsy, Impulsivity, Head titubation, Atax...	OMIM:619475
Multiple System Atrophy 1, Susceptibility To	Bradykinesia, Babinski sign, Tremor, Iris atrophy, Impotence, Olivopontocerebellar atrophy, Rigid...	OMIM:146500
Oculocerebral Hypopigmentation Syndrome, Preus Type	Abnormal hip bone morphology, High palate, Hearing impairment, Arachnodactyly, Iris hypopigmentat...	ORPHA:2720
Ebola Hemorrhagic Fever	Gastrointestinal hemorrhage, Melena, Diarrhea, Vomiting, Nausea, Thrombocytopenia, Leukopenia, Dy...	ORPHA:319218
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Renal tubular epithelial necrosis, Hepatomegaly, Dicarboxylic aciduria, Myoglobinuria, Polycystic...	ORPHA:228308
Ataxia With Vitamin E Deficiency	Hypertonia, Dysdiadochokinesis, Tremor, Gait disturbance, Hemiplegia/hemiparesis, Dystonia, Ataxi...	ORPHA:96
Dyssegmental Dysplasia, Silverman-Handmaker Type	Pterygium, Short long bone, Narrow mouth, Bowing of the long bones, Micrognathia, Neonatal death,...	OMIM:224410
Combined Oxidative Phosphorylation Deficiency 33	Hepatomegaly, Cardiomyopathy, Elevated circulating creatine kinase concentration, Nephrotic syndr...	OMIM:617713
Classic Phenylketonuria	Hypertonia, Depression, Paraplegia, Tremor, Hemiplegia, Cataract, Growth delay, Attention deficit...	ORPHA:79254
Marburg Hemorrhagic Fever	Anorexia, Diarrhea, Neutrophilia in presence of infection, Dysesthesia, Abnormal lymphocyte morph...	ORPHA:99826
Glutaric Acidemia Type 3	Failure to thrive, Lethargy, Impulsivity	ORPHA:35706
2-Methylbutyryl-Coa Dehydrogenase Deficiency	Lethargy	OMIM:610006
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull	Testicular atrophy	OMIM:601163
Spinocerebellar Ataxia 8	Progressive cerebellar ataxia, Incoordination, Spasticity, Tremor, Cerebellar atrophy, Dysphagia,...	OMIM:608768
African Trypanosomiasis	Abnormality of the endocrine system, Fasciculations, Impotence, Abnormal growth hormone level, Sp...	ORPHA:3385
Leukodystrophy, Hypomyelinating, 13	Optic atrophy, Delayed brainstem auditory evoked response conduction time, Ataxia, Exaggerated st...	OMIM:616881
Evans Syndrome	Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, Autoimmune thr...	ORPHA:1959
Cardiac-Urogenital Syndrome	Enlarged kidney, Mesocardia, Aplasia of the uterus, Bifid scrotum, Coronary sinus enlargement, Dy...	OMIM:618280
Mayer-Rokitansky-Küster-Hauser Syndrome	Ectopic kidney, Unilateral renal agenesis, Endometriosis, Aplasia of the uterus, Ectopic ovary, P...	ORPHA:3109
Mosaic Variegated Aneuploidy Syndrome 1	Postnatal growth retardation, Hypospadias, Dandy-Walker malformation, Tetraplegia, Bifid scrotum,...	OMIM:257300
Congenital Bilateral Absence Of Vas Deferens	Absent vas deferens, Male infertility, Oligozoospermia, Obstructive azoospermia	ORPHA:48
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion	Gait imbalance, Tongue thrusting, Broad-based gait, Hyperactivity, Tremor, Recurrent hand flappin...	ORPHA:98794
Amoebic Keratitis	Abnormal anterior chamber morphology, Abnormal corneal epithelium morphology, Corneal ulceration,...	ORPHA:67043
Usher Syndrome	Astigmatism, Abnormality of dental color, Abnormal dental enamel morphology, Sensorineural hearin...	ORPHA:886
Congenital Tricuspid Valve Dysplasia	Tricuspid valve prolapse, Hepatomegaly, Abnormal tricuspid valve annulus morphology, Patent foram...	ORPHA:555874
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis	Rocker bottom foot, Decreased circulating androstenedione concentration, Clitoral hypertrophy, De...	OMIM:201750
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome	Atrophy/Degeneration involving the spinal cord, Gastroparesis, Depression, Positive Romberg sign,...	ORPHA:70595
Congenital Muscular Dystrophy With Cerebellar Involvement	Optic atrophy, Abnormality iris morphology, Optic nerve hypoplasia, Megalocornea, Cataract, Macro...	ORPHA:370959
Ectopia Pupillae	Ectopia pupillae	OMIM:129750
Intellectual Disability-Alacrima-Achalasia Syndrome	Deep philtrum, Anisocoria	ORPHA:289483
Weill-Marchesani Syndrome 2	Flexion contracture of toe, Short metacarpal, Broad metatarsal, Thickened helices, Broad ribs, Na...	OMIM:608328
3Q29 Microduplication Syndrome	Aniridia, Sandal gap, High palate, Abnormality of the dentition, Low-set ears, Camptodactyly of t...	ORPHA:251038
Severe Oculo-Renal-Cerebellar Syndrome	Optic atrophy, Sandal gap, Mandibular prognathia, Macrotia, Wide mouth, Cataract, Hypoplasia of t...	ORPHA:2715
Spermatogenic Failure 13	Abnormal circulating luteinizing hormone concentration, Male infertility, Abnormal circulating te...	OMIM:615841
Mulibrey Nanism	Cardiomegaly, Hepatomegaly, Myocardial fibrosis, Pericardial constriction	OMIM:253250
Timothy Syndrome	Hypocalcemia, Patent foramen ovale, Tetralogy of Fallot, Cardiomegaly, Ventricular septal defect	OMIM:601005
Cutis Marmorata Telangiectatica Congenita	Orofacial cleft, Finger syndactyly, Hypothyroidism, Short lower limbs, Micrognathia, Displacement...	ORPHA:1556
Weill-Marchesani Syndrome 4	Iridodonesis, Phakodonesis, Ectopia lentis, Shallow anterior chamber, Brachydactyly, Posterior sy...	OMIM:613195
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency	Ambiguous genitalia, male, Clitoral hypertrophy, Abnormal sex determination, Abnormal vagina morp...	ORPHA:168558
Adult Krabbe Disease	Delayed brainstem auditory evoked response conduction time, Broad-based gait, Gait disturbance, A...	ORPHA:206448
Familial Isolated Hypoparathyroidism	Abnormal circulating calcium-phosphate regulating hormone concentration, Hypoparathyroidism, Dela...	ORPHA:2238
Ophthalmoplegia, Familial Static	Anisocoria	OMIM:165000
Niemann-Pick Disease Type C	Chorea, Limb dystonia, Ataxia, Splenomegaly, Dysphagia, Myoclonus, Clumsiness, Aggressive behavio...	ORPHA:646
Otopalatodigital Syndrome Type 2	Developmental glaucoma, Abnormal pinna morphology, Glossoptosis, Flared iliac wing, Hypoplastic f...	ORPHA:90652
Scrub Typhus	Splenomegaly, Tremor, Lethargy	ORPHA:83317
Long-Olsen-Distelmaier Syndrome	Hyperammonemia, Secundum atrial septal defect, Cardiomegaly, Dilated cardiomyopathy, Ventricular ...	OMIM:620609
Fixed Subaortic Stenosis	Atrioventricular canal defect, Cardiomegaly, Bacterial endocarditis, Pulmonic stenosis, Abnormal ...	ORPHA:3092
Mietens Syndrome	Hypoplasia of the ulna, Hypoplasia of the radius, Abnormal fibula morphology, Clinodactyly of the...	ORPHA:2557
Chromosome 18Q Deletion Syndrome	Optic atrophy, Decreased response to growth hormone stimulation test, Hypospadias, Broad-based ga...	OMIM:601808
Spermatogenic Failure, X-Linked, 4	Male infertility, Azoospermia, Abnormal prolactin level, Elevated circulating follicle stimulatin...	OMIM:301077
Combined Oxidative Phosphorylation Deficiency 18	Macrocytic anemia, Increased mitochondrial number, Tremor, Intrauterine growth retardation, Hyper...	OMIM:615578
Osteopathia Striata-Cranial Sclerosis Syndrome	Abnormal metaphysis morphology, Retrognathia, High, narrow palate, Delayed eruption of teeth, Lar...	ORPHA:2780
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1	Decreased pineal volume, Hearing impairment, Bone marrow hypocellularity, Micrognathia, Hypoplasi...	OMIM:301108
Dyskeratosis Congenita, Autosomal Recessive 2	Growth delay, Thrombocytopenia, Testicular atrophy, Pancytopenia	OMIM:613987
Holocarboxylase Synthetase Deficiency	Irritability, Hypertonia, Vomiting, Thrombocytopenia, Lethargy	OMIM:253270
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency	Ambiguous genitalia, male, Clitoral hypertrophy, Abnormal sex determination, Abnormal vagina morp...	ORPHA:289548
Perry Syndrome	Depression, Abnormality of extrapyramidal motor function, Tremor, Parkinsonism, Weight loss, Apathy	ORPHA:178509
Pituitary Apoplexy	Mydriasis, Decreased response to growth hormone stimulation test, Central diabetes insipidus, Nor...	ORPHA:95613
Argininosuccinic Aciduria	Irritability, Vomiting, Failure to thrive, Ataxia, Lethargy	OMIM:207900
Anterior Segment Dysgenesis 7	Ocular anterior segment dysgenesis, Microcornea, Corneal opacity, Sclerocornea, Cataract, Buphtha...	OMIM:269400
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus	Short sperm flagella, Male infertility, Coiled sperm flagella	OMIM:620197
Hallermann-Streiff Syndrome	Everted lower lip vermilion, Narrow palate, Selective tooth agenesis, Metaphyseal widening, Malar...	OMIM:234100
Mucopolysaccharidosis, Type Iiib	Hepatomegaly, Asymmetric septal hypertrophy, Splenomegaly, Cardiomegaly, Heparan sulfate excretio...	OMIM:252920
Wars2-Related Combined Oxidative Phosphorylation Defect	Cerebral atrophy, Difficulty walking, Limb hypertonia, Cerebellar vermis hypoplasia, Athetosis, C...	ORPHA:572798
Oculoauricular Syndrome	Microphakia, Short mandibular rami, Ocular anterior segment dysgenesis, Iris cyst, Microcornea, C...	OMIM:612109
Autosomal Dominant Keratitis	Corneal neovascularization, Aniridia, Limbal stem cell deficiency, Microcornea, Abnormal corneal ...	ORPHA:2334
Cutis Marmorata Telangiectatica Congenita	Short lower limbs, Bowing of the legs, Leukocoria	OMIM:219250
Methylmalonic Acidemia With Homocystinuria Type Cblf	Stomatitis, Megaloblastic anemia, Growth delay, Failure to thrive, Intrauterine growth retardatio...	ORPHA:79284
Refsum Disease, Classic	Cardiomegaly, Elevated circulating phytanic acid concentration, Cardiomyopathy, Abnormal renal ph...	OMIM:266500
Spinocerebellar Ataxia Type 21	Akinesia, Progressive cerebellar ataxia, Abnormality of extrapyramidal motor function, Cerebellar...	ORPHA:98773
Xeroderma Pigmentosum	Optic atrophy, Pterygium, Abnormality of extrapyramidal motor function, Spasticity, Decreased tes...	ORPHA:910
Bickerstaff Brainstem Encephalitis	Mydriasis, Abnormal cranial nerve morphology, Facial palsy, Anisocoria, Abnormality of the autono...	ORPHA:79138
Migraine, Familial Hemiplegic, 2	Apraxia, Tremor, Cerebellar atrophy, Episodic ataxia, Gait ataxia, Nausea, Hemiparesis, Hemiplegi...	OMIM:602481
3Q29 Microdeletion Syndrome	Hypospadias, Gastroesophageal reflux, Depression, Bipolar affective disorder, Gait disturbance, A...	ORPHA:65286
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea	Gastroesophageal reflux, Chronic diarrhea, Leukocytosis, Vomiting, Failure to thrive, Hemiparesis...	OMIM:620233
Double Outlet Left Ventricle	Pulmonary valve atresia, Tricuspid atresia, Double outlet left ventricle, Ventricular septal defe...	ORPHA:3427
Crigler-Najjar Syndrome	Lethargy	ORPHA:205
Fanconi Anemia, Complementation Group A	Male infertility, Anemia, Pancytopenia, Reticulocytopenia, Hypergonadotropic hypogonadism, Short ...	OMIM:227650
Cardiomyopathy, Familial Hypertrophic, 4	Ventricular septal hypertrophy, Muscular ventricular septal defect, Hepatomegaly, Ventricular hyp...	OMIM:115197
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs	Ovotestis, Hypospadias, Low-set ears, Cleft palate, Adrenal gland agenesis, Cleft lip, Sex reversal	OMIM:611812
Floating-Harbor Syndrome	Abnormal anterior chamber morphology, Abnormal temper tantrums, Hypospadias, Gastroesophageal ref...	ORPHA:2044
Chronic Bilirubin Encephalopathy	Conjunctival icterus, Sensorineural hearing impairment, Abnormal auditory evoked potentials, Prol...	ORPHA:529808
Acute Bilirubin Encephalopathy	Conjunctival icterus, Sensorineural hearing impairment, Abnormal auditory evoked potentials, Prol...	ORPHA:529799
Oculodentodigital Dysplasia	Joint contracture of the 5th finger, Broad alveolar ridges, Abnormal pinna morphology, Microdonti...	OMIM:164200
Pseudo-Torch Syndrome 3	Cardiomegaly, Acute kidney injury, Increased circulating ferritin concentration, Proteinuria	OMIM:618886
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z	Fasciculations, Cerebellar atrophy, Impaired vibratory sensation, Tip-toe gait, Babinski sign, Hy...	ORPHA:466768
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome	Cerebral atrophy, Optic atrophy, Babinski sign, Depression, Atrophy/Degeneration affecting the br...	ORPHA:314404
Dysosteosclerosis	Short ribs, Broad femoral neck, Broad ribs, Absent paranasal sinuses, Optic atrophy, Abnormal met...	OMIM:224300
Methylmalonic Aciduria, Cblb Type	Anemia, Pancytopenia, Vomiting, Failure to thrive, Thrombocytopenia, Lethargy, Neutropenia	OMIM:251110
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Hypospadias, Hypertrophic cardiomyopathy, Hydronephrosis, Cardiomegaly, Ventricular septal defect...	OMIM:616897
Stromme Syndrome	Stillbirth, Preaxial polydactyly, Accessory spleen, Optic nerve hypoplasia, Microcornea, Low-set ...	OMIM:243605
Brachycephaly, Deafness, Cataract, Microstomia, And Impaired Intellectual Development	Rocker bottom foot, Long philtrum, Breast hypoplasia, Small scrotum, Microtia, Narrow mouth, Mega...	OMIM:601353
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Enlarged kidney, Hepatomegaly, Ureteral duplication, Elevated circulating creatinine concentratio...	OMIM:608836
Hydranencephaly	Postnatal growth retardation, Optic nerve hypoplasia, Cerebral cortical atrophy, Opisthotonus, In...	ORPHA:2177
Chromosome Xp11.3 Deletion Syndrome	Optic atrophy, Posterior subcapsular cataract, Short stature, Cataract, Cryptorchidism	OMIM:300578
Arterial Calcification, Generalized, Of Infancy, 2	Cardiomegaly, Nephrocalcinosis, Hypophosphatemic rickets, Right atrial enlargement	OMIM:614473
Frontorhiny	Low-set, posteriorly rotated ears, Diabetes insipidus, Hypoplastic frontal sinuses, Hypoplasia of...	ORPHA:391474
Oculopalatocerebral Syndrome	Cleft palate, Leukocoria	OMIM:257910
Gorlin Syndrome	Orofacial cleft, Odontogenic keratocysts of the jaw, Ovarian fibroma, Mandibular prognathia, Abno...	ORPHA:377
Dengue Fever	Gastrointestinal hemorrhage, Diarrhea, Thrombocytopenia, Leukopenia, Lethargy	ORPHA:99828
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency	Cerebral palsy, Vomiting, Failure to thrive, Opisthotonus, Lethargy	OMIM:210210
Werner Syndrome	Hypertriglyceridemia, Short stature, Elevated hemoglobin A1c, Hypogonadism, Cataract, Diabetes me...	OMIM:277700
Alpha-N-Acetylgalactosaminidase Deficiency	Cardiomegaly, Oligosacchariduria	ORPHA:3137
Knobloch Syndrome 1	Iris transillumination defect, Band keratopathy, Chorioretinal atrophy, Persistent pupillary memb...	OMIM:267750
Tsh-Secreting Pituitary Adenoma	Delayed puberty, Erectile dysfunction, Impotence, Female hypogonadism, Hypogonadism, Central adre...	ORPHA:91347
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome	Hematuria, Hypoparathyroidism, Aplasia of the vagina, Aplasia of the uterus, Uterus didelphys, Ne...	OMIM:146255
Craniotubular Dysplasia, Ikegawa Type	Optic atrophy, Mydriasis, Diaphyseal dysplasia, Thick lower lip vermilion, Optic nerve compressio...	OMIM:619727
Thrombocytopenia-Absent Radius Syndrome	Femoral bowing, Corneal opacity, Aplasia of the uterus, Broad thumb, Bilateral radial aplasia, Ab...	OMIM:274000
Lathosterolosis	Anisopoikilocytosis, Cerebellar cortical atrophy, Hypoplasia of penis, Microcornea, Cataract, Fai...	ORPHA:46059
Early-Onset Progressive Leukoencephalopathy-Central Nervous System Calcification-Deafness-Visual Impairment Syndrome	Hypochromic microcytic anemia, Absent brainstem auditory responses, Head titubation, Thrombocytop...	ORPHA:3240
Facial Spasm	Anisocoria	OMIM:134300
Nail-Patella Syndrome	Microphakia, Clinodactyly of the 5th finger, Patellar hypoplasia, Glenoid fossa hypoplasia, Kerat...	OMIM:161200
Biotinidase Deficiency	Optic atrophy, Optic neuropathy, Ataxia, Conjunctivitis, Spastic paraparesis, Lethargy	ORPHA:79241
Pseudohypoparathyroidism Type 1A	Irritability, Decreased response to growth hormone stimulation test, Reduced circulating prolacti...	ORPHA:79443
Rothmund-Thomson Syndrome, Type 2	Zonular cataract, Microdontia, Hypogonadism, Cryptorchidism, Short palm, Cataract, Small hand, Su...	OMIM:268400
Aniridia-Absent Patella Syndrome	Cataract, Aplasia/Hypoplasia of the patella, Cryptorchidism, Aniridia	ORPHA:1069
Legius Syndrome	Xanthelasma, Ovarian neoplasm, Chiari type I malformation, Hyperactivity, Acute monocytic leukemi...	ORPHA:137605
Meckel Syndrome	Pancreatic fibrosis, Abnormal chorioretinal morphology, Optic atrophy, Low-set, posteriorly rotat...	ORPHA:564
Codas Syndrome	Genu valgum, Proximal placement of thumb, Rectovaginal fistula, Squared iliac bones, Delayed erup...	OMIM:600373
Pseudohypoparathyroidism Type 1C	Irritability, Decreased response to growth hormone stimulation test, Elevated circulating parathy...	ORPHA:79444
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures	Agitation, Hypertonia, Truncal titubation, Limb hypertonia, Tremor, Cerebellar atrophy, Exaggerat...	OMIM:618056
Lysinuric Protein Intolerance	Hypertriglyceridemia, Decreased response to growth hormone stimulation test, Steatorrhea, Anemia,...	ORPHA:470
Alternating Hemiplegia Of Childhood	Oculomotor apraxia, Chorea, Impulsivity, Rigidity, Ataxia, Dysphagia, Aggressive behavior, Anorex...	ORPHA:2131
Cerebellofaciodental Syndrome	Taurodontia, Genu valgum, Clinodactyly of the 5th finger, Slender long bone, Low-set ears, Shorte...	OMIM:616202
Kanzaki Disease	Cerebral atrophy, Distal sensory impairment, Axonal degeneration, Peripheral axonal neuropathy, T...	OMIM:609242
Mitochondrial Complex I Deficiency, Nuclear Type 9	Neonatal death, Lethargy	OMIM:618232
Aniridia-Intellectual Disability Syndrome	Cataract, Optic nerve hypoplasia, Ectopia lentis, Aniridia	ORPHA:1068
Acrofrontofacionasal Dysostosis 1	Optic atrophy, Mixed hearing impairment, Acetabular dysplasia, Oligodontia, Mandibular prognathia...	OMIM:201180
Pseudo-Torch Syndrome 2	Cerebellar hypoplasia, Thrombocytopenia, Lethargy	OMIM:617397
Congenital Syphilis	Optic atrophy, Pancreatitis, Anemia, Lymphadenopathy, Tibial bowing, Chorioretinitis, Notched pri...	ORPHA:499009
Infantile Liver Failure Syndrome 2	Vomiting, Lethargy	OMIM:616483
Cantu Syndrome	Cardiomegaly, Bicuspid aortic valve, Pericardial effusion, Congenital hypertrophy of left ventricle	OMIM:239850
Orofaciodigital Syndrome Type 6	Cerebellar vermis hypoplasia, Tremor, Gait disturbance, Bilateral cryptorchidism, Short stature, ...	ORPHA:2754
Hsd10 Disease, Infantile Type	Cardiomegaly, Hyperammonemia, Abnormal concentration of acylcarnitine in the urine, Hypertrophic ...	ORPHA:391428
Early Infantile Epileptic Encephalopathy	Hyperactivity, Spasticity, Tremor, Cerebellar atrophy, Episodic ataxia, Precocious puberty, Failu...	ORPHA:1934
Hypothyroidism Due To Tsh Receptor Mutations	Elevated circulating thyroid-stimulating hormone concentration, Impaired sensitivity to thyroid s...	ORPHA:90673
Nephronophthisis 11	Hepatic fibrosis, Anemia, Anisocoria	OMIM:613550
Coronary Arterial Fistula	Atrial septal defect, Cardiomegaly, Bacterial endocarditis, Patent foramen ovale, Aortic valve st...	ORPHA:2041
Mowat-Wilson Syndrome	Widely spaced teeth, Aganglionic megacolon, Hypospadias, Recurrent otitis media, Tooth malpositio...	OMIM:235730
Charcot-Marie-Tooth Disease Type 4B2	Tip-toe gait, Optic atrophy, Difficulty walking, Developmental glaucoma, Inability to walk, Dista...	ORPHA:99956
Genetic Transient Congenital Hypothyroidism	Elevated circulating thyroid-stimulating hormone concentration, Thyroid hypoplasia, Constipation,...	ORPHA:226316
Bardet-Biedl Syndrome	Hypertriglyceridemia, Childhood-onset truncal obesity, Hypoplasia of penis, Hypoplasia of the ova...	ORPHA:110
Elsahy-Waters Syndrome	Bifid scrotum, Bifid uvula, Broad philtrum, Long philtrum, Impacted tooth, Agenesis of incisor, H...	OMIM:211380
Chédiak-Higashi Syndrome	Hypertriglyceridemia, Abnormal leukocyte morphology, Cerebellar atrophy, Spastic paraplegia, Atax...	ORPHA:167
Anterior Segment Dysgenesis 2	Aniridia, Microcornea, Corneal opacity, Congenital aphakia, Anterior segment of eye aplasia, Scle...	OMIM:610256
Autosomal Dominant Spastic Paraplegia Type 9A	Spastic gait, Babinski sign, Spastic dysarthria, Falls, Abnormality of pain sensation, Impaired v...	ORPHA:447753
Microphthalmia, Syndromic 3	Postnatal growth retardation, Hypospadias, Optic nerve hypoplasia, Anterior pituitary hypoplasia,...	OMIM:206900
Encephalitis Lethargica	Parkinsonism, Tremor, Lethargy, Bowel incontinence	ORPHA:83600
Microphthalmia, Syndromic 5	Optic nerve hypoplasia, Microcornea, Short stature, Cataract, Cryptorchidism, Micropenis, Ectopic...	OMIM:610125
Aorta Coarctation	Perimembranous ventricular septal defect, Cardiomegaly, Abnormal left ventricular outflow tract m...	ORPHA:1457
Familial Hypoaldosteronism	Diarrhea, Increased circulating renin level, Failure to thrive, Growth delay, Decreased circulati...	ORPHA:427
Orofaciodigital Syndrome Type 2	Cone-shaped epiphyses of the phalanges of the hand, Abnormal oral frenulum morphology, Tongue nod...	ORPHA:2751
Dyskeratosis Congenita	Neoplasm of the pancreas, Bone marrow hypocellularity, Splenomegaly, Taurodontia, Abnormality of ...	ORPHA:1775
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked	Absent vas deferens, Male infertility, Azoospermia	OMIM:300985
Vas Deferens, Congenital Bilateral Aplasia Of	Absent vas deferens, Male infertility, Azoospermia	OMIM:277180
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies	Corneal neovascularization, Astigmatism, Polycoria, Microcornea, Corneal opacity, Limb dystonia, ...	OMIM:175780
Chediak-Higashi Syndrome	Anemia, Hemophagocytosis, Ocular albinism, Tremor, Gait disturbance, Iris hypopigmentation, Leuko...	OMIM:214500
Iatrogenic Botulism	Mydriasis, Orthostatic hypotension	ORPHA:254509
Camurati-Engelmann Disease	Delayed puberty, Abnormal femur morphology, Leukopenia, Splenomegaly, Hypogonadism, Ataxia, Crani...	ORPHA:1328
Pyruvate Carboxylase Deficiency	Tip-toe gait, Anorexia, Abnormal temper tantrums, Tremor, Recurrent hand flapping, Compulsive beh...	ORPHA:3008
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1	Cerebral atrophy, Large for gestational age, Gastroesophageal reflux, Spasticity, Tremor, Cerebel...	OMIM:614080
Isolated Right Ventricular Hypoplasia	Muscular ventricular septal defect, Patent foramen ovale, Right atrial enlargement, Cardiomegaly,...	ORPHA:439
X-Linked Intellectual Disability, Snyder Type	Inability to walk, Hypospadias, Abnormality of the Leydig cells, Involuntary movements, Short sta...	ORPHA:3063
Danon Disease	Myocardial necrosis, Elevated circulating creatine kinase concentration, Hypertrophic cardiomyopa...	OMIM:300257
Aicardi-Goutières Syndrome	Developmental glaucoma, Neonatal alloimmune thrombocytopenia, Extrapyramidal muscular rigidity, I...	ORPHA:51
Hereditary Fructose Intolerance	Diarrhea, Vomiting, Nausea, Constipation, Growth delay, Cataract, Lethargy	ORPHA:469
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of	Vomiting, Lethargy	OMIM:201450
Von Hippel-Lindau Syndrome	Neoplasm of the pancreas, Pheochromocytoma, Polycythemia, Papillary cystadenoma of the epididymis...	OMIM:193300
Parkinson Disease 20, Early-Onset	Bradykinesia, Tremor, Shuffling gait, Gait disturbance, Involuntary movements, Cerebral cortical ...	OMIM:615530
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract	Cataract, Microcornea, Aniridia	OMIM:106230
Lacrimoauriculodentodigital Syndrome	Recurrent corneal erosions, Corneal neovascularization, Mixed hearing impairment, Limbal stem cel...	ORPHA:2363
Mitochondrial Trifunctional Protein Deficiency 1	Small for gestational age, Failure to thrive, Lethargy	OMIM:609015
Gabriele-De Vries Syndrome	Tip-toe gait, Tremor, Waddling gait, Dystonia, Attention deficit hyperactivity disorder, Cryptorc...	OMIM:617557
Glycogen Storage Disease Ii	Hepatomegaly, Urinary incontinence, Increased circulating NT-proBNP concentration, Elevated circu...	OMIM:232300
Infantile Krabbe Disease	Optic atrophy, Delayed brainstem auditory evoked response conduction time, Decreased nerve conduc...	ORPHA:206436
Coats Disease	Leukocoria	OMIM:300216
Bloom Syndrome	Premature ovarian insufficiency, Male infertility, Acute myeloid leukemia, Gastroesophageal reflu...	ORPHA:125
Carnitine-Acylcarnitine Translocase Deficiency	Irritability, Lethargy	OMIM:212138
Autosomal Dominant Optic Atrophy And Cataract	Optic atrophy, Somatic sensory dysfunction, Posterior subcapsular cataract, Posterior cortical ca...	ORPHA:67036
Primary Dystonia, Dyt2 Type	Difficulty walking, Torticollis, Torsion dystonia, Tremor, Blepharospasm, Limb dystonia, Involunt...	ORPHA:99657
Juvenile Glaucoma	Abnormal anterior chamber morphology, Temporal optic disc pallor, Abnormality iris morphology, Op...	ORPHA:98977
Cystic Fibrosis	Absent vas deferens, Male infertility, Steatorrhea, Decreased body mass index, Gastroesophageal r...	ORPHA:586
Roberts Syndrome	Clitoral hypertrophy, Radial deviation of finger, Proximal placement of thumb, Sandal gap, Abnorm...	ORPHA:3103
Idiopathic Pulmonary Hemosiderosis	Cardiomegaly, Hepatomegaly, Hepatosplenomegaly, Glomerulonephritis	ORPHA:99931
Autoimmune Polyendocrine Syndrome, Type Ii	Cirrhosis, Iron deficiency anemia, Band keratopathy, Keratoconjunctivitis, Asplenia, Hypothyroidi...	OMIM:269200
Aniridia And Absent Patella	Cataract, Aplasia/Hypoplasia of the patella, Aniridia	OMIM:106220
Arachnoid Cyst	Mydriasis, Inability to walk, Abnormality of the endocrine system, Facial palsy, Gait disturbance...	ORPHA:2356
Parkinson Disease 17	Bradykinesia, Akinesia, Resting tremor, Tremor, Rigidity, Parkinsonism	OMIM:614203
Ciliary Dyskinesia, Primary, 53	Situs inversus totalis, Perimembranous ventricular septal defect, Patent foramen ovale, Common at...	OMIM:620642
Hyperlysinemia	Tip-toe gait, Gastroesophageal reflux, Neck hypertonia, Hyperactivity, Tremor, Spastic tetrapares...	ORPHA:2203
Hypermanganesemia With Dystonia 1	Bradykinesia, Steppage gait, Abnormality of extrapyramidal motor function, Poor fine motor coordi...	OMIM:613280
Intestinal Botulism	Mydriasis	ORPHA:178481
Serotonin Syndrome	Mydriasis, Tremor, Abnormality of the autonomic nervous system	ORPHA:43116
Tick-Borne Encephalitis	Anorexia, Hyperkinetic movements, Abnormal glossopharyngeal nerve morphology, Depression, Abnorma...	ORPHA:297
Toxin-Mediated Infectious Botulism	Mydriasis	ORPHA:230800
Ciliary Dyskinesia, Primary, 45	Absent inner and outer dynein arms, Male infertility	OMIM:618801
Beckwith-Wiedemann Syndrome	Enlarged kidney, Hepatomegaly, Renal cortical cysts, Vesicoureteral reflux, Cardiomyopathy, Nephr...	OMIM:130650
Vascular Ehlers-Danlos Syndrome	Microdontia, Abnormal oral frenulum morphology, Cystocele, Hypospadias, Keratoconus, Abnormality ...	ORPHA:286
Coffin-Lowry Syndrome	Narrow palate, Protruding ear, Thick lower lip vermilion, Widely spaced teeth, Bifid sternum, Hyp...	OMIM:303600
Bosma Arhinia Microphthalmia Syndrome	Hypospadias, Dental malocclusion, Abnormal pinna morphology, Absent tragus, High palate, Atresia ...	OMIM:603457
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset	Hepatomegaly, Elevated circulating creatine kinase concentration, Hypertrophic cardiomyopathy, Le...	ORPHA:308552
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4	Mydriasis	OMIM:619365
Von Hippel-Lindau Disease	Neoplasm of the pancreas, Pancreatic endocrine tumor, Adrenal pheochromocytoma, Pancreatic islet ...	ORPHA:892
Dyskeratosis Congenita, X-Linked	Optic atrophy, Anemia, Hypospadias, Acute myeloid leukemia, Pancytopenia, Pterygium, Phimosis, De...	OMIM:305000
Gaucher Disease, Type Iiic	Hepatomegaly, Mitral valve calcification, Mitral stenosis, Splenomegaly, Aortic valve calcificati...	OMIM:231005
Ciliary Dyskinesia, Primary, 14	Male infertility, Abnormal axonemal organization of respiratory motile cilia, Reduced sperm motil...	OMIM:613807
Metachromatic Leukodystrophy	Tip-toe gait, Addictive behavior, Emotional lability, Incoordination, Decerebrate rigidity, Tremo...	ORPHA:512
Pierson Syndrome	Posterior lenticonus, Hypoplasia of the ciliary body, Microcoria, Hypoplasia of the iris, Rieger ...	OMIM:609049
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Microtia, Microdontia, Lymphopenia, Accessory spleen, Portal hypertension, Hip dysplasia, Catarac...	OMIM:620005
Yunis-Varon Syndrome	Rocker bottom foot, Clitoral hypertrophy, Broad secondary alveolar ridge, Abnormal finger morphol...	ORPHA:3472
Heterotaxy, Visceral, 1, X-Linked	Enlarged kidney, Pulmonic stenosis, Cardiomegaly, Right atrial isomerism, Transposition of the gr...	OMIM:306955
Acro-Renal-Ocular Syndrome	Sandal gap, Sensorineural hearing impairment, Short humerus, Hypoplasia of the ulna, Aganglionic ...	ORPHA:959
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2	Cardiomegaly, Pollakisuria, Elevated circulating creatine kinase concentration, Right ventricular...	ORPHA:268
Cholera	Diarrhea, Irritability, Lethargy, Vomiting	ORPHA:173
Dpagt1-Cdg	Optic atrophy, Emotional blunting, Global brain atrophy, Akinesia, Anemia, Inability to walk, Ast...	ORPHA:86309
1P36 Deletion Syndrome	Abnormal female external genitalia morphology, Hypoplasia of penis, Dysphagia, Hypogonadism, Opti...	ORPHA:1606
Townes-Brocks Syndrome 2	Hypospadias, Rectovaginal fistula, Vesicoureteral reflux, Bifid uterus, Crossed fused renal ectopia	OMIM:617466
Carnitine-Acylcarnitine Translocase Deficiency	Irritability, Lethargy	ORPHA:159
Neurofibromatosis Type 1	Delayed puberty, Spinal neurofibroma, Abnormality of the endocrine system, Pheochromocytoma, Corn...	ORPHA:636
Progeroid Short Stature With Pigmented Nevi	Delayed puberty, Premature ovarian insufficiency, Hypospadias, Vomiting, Short stature, Chordee, ...	OMIM:176690
Triosephosphate Isomerase Deficiency	Cerebral atrophy, Normocytic anemia, Chronic hemolytic anemia, Normochromic anemia, Macrocytic an...	OMIM:615512
Spondyloocular Syndrome	Femur fracture, Posterior subcapsular cataract, Sensorineural hearing impairment, Low-set ears, A...	OMIM:605822
Wound Botulism	Mydriasis	ORPHA:178475
Adult-Onset Dystonia-Parkinsonism	Frontotemporal cerebral atrophy, Bradykinesia, Depression, Generalized cerebral atrophy/hypoplasi...	ORPHA:199351
Fructose-1,6-Bisphosphatase Deficiency	Irritability, Lethargy	OMIM:229700
Infant Botulism	Chronic otitis media, Mydriasis, Keratoconjunctivitis sicca	ORPHA:178478
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome	External genital hypoplasia, Hypoplasia of penis, Tooth malposition, Bifid uvula, Cleft palate, F...	ORPHA:2250
Schinzel-Giedion Midface Retraction Syndrome	Tibial bowing, Opisthotonus, Small scrotum, Short distal phalanx of finger, Increased density of ...	OMIM:269150
Gabriele-De Vries Syndrome	Breast hypoplasia, Decreased response to growth hormone stimulation test, Astigmatism, Oral-phary...	ORPHA:506358
Limb-Mammary Syndrome	Protruding ear, Cleft hard palate, Clinodactyly of the 5th finger, Chronic irritative conjunctivi...	ORPHA:69085
Aortic Aneurysm, Familial Thoracic 6	Iris flocculi	OMIM:611788
Ciliary Dyskinesia, Primary, 34	Absent central microtubular pair morphology of respiratory motile cilia, Male infertility, Immoti...	OMIM:617091
Late-Onset Retinal Degeneration	Iris transillumination defect, Choroidal neovascularization, Chorioretinal atrophy, Iris atrophy,...	ORPHA:67042
Ciliary Dyskinesia, Primary, 18	Absent outer dynein arms, Male infertility, Immotile sperm, Absent inner dynein arms	OMIM:614874
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Delayed puberty, Gastroesophageal reflux, Tremor, Impulsivity, Speech apraxia, Slender build, Ata...	OMIM:300967
Histiocytosis-Lymphadenopathy Plus Syndrome	Decreased response to growth hormone stimulation test, Hepatomegaly, Azoospermia, Pancreatic hypo...	OMIM:602782
Retinoblastoma	Hypopyon, Heterochromia iridis, Cleft palate, Pineoblastoma, Leukocoria, Leukemia, Uveitis	ORPHA:790
Oeis Complex	Epispadias, Ambiguous genitalia, male, Hydroureter, Rectovaginal fistula, Vesicovaginal fistula, ...	OMIM:258040
Inhalational Botulism	Mydriasis	ORPHA:254504
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Abnormal fear-induced behavior, Hypospadias, Gastroesophageal reflux, Emotional lability, Hyperac...	ORPHA:353281
Congenital Disorder Of Glycosylation, Type It	Hepatomegaly, Elevated circulating creatine kinase concentration, Hydronephrosis, Cardiomegaly, D...	OMIM:614921
Neonatal Marfan Syndrome	Iridodonesis, High, narrow palate, Low-set ears, Megalocornea, Decreased testicular size, Arachno...	ORPHA:284979
Sickle Cell Disease	Hepatomegaly, Hematuria, Cholelithiasis, Splenomegaly, Cardiomegaly, Renal insufficiency	OMIM:603903
Botulism	Mydriasis	ORPHA:1267
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Cardiomegaly	OMIM:613320
Phocomelia, Schinzel Type	Hypoplasia of the radius, Fibular aplasia, Aplasia of the ulna, Abnormal tibia morphology, High, ...	ORPHA:2879
Beck-Fahrner Syndrome	Cardiomegaly, Ventricular septal defect	OMIM:618798
Foodborne Botulism	Mydriasis	ORPHA:228371
Craniofaciofrontodigital Syndrome	Cardiomegaly, Abnormal heart valve morphology, Aortic valve stenosis, Pericardial effusion, Bicus...	ORPHA:363705
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency	Oculomotor apraxia, Oculogyric crisis, Depression, Hyperactivity, Spasticity, Tremor, Frequent fa...	OMIM:612716
Paternal Uniparental Disomy Of Chromosome 6	Hepatomegaly, Ventricular septal defect, Precocious puberty, Cardiomegaly, Cryptorchidism, Labial...	ORPHA:96191
Cystinosis, Nephropathic	Cerebral atrophy, Recurrent corneal erosions, Male infertility, Polydipsia, Delayed puberty, Prim...	OMIM:219800
Meckel Syndrome 14	Retrognathia, Aplasia of the uterus, Postaxial hand polydactyly, Bowing of the long bones, Low-se...	OMIM:619879
Schwannomatosis, Vestibular	Posterior subcapsular cataract, Juvenile posterior subcapsular lenticular opacities, Peripheral s...	OMIM:101000
Pituitary Adenoma 4, Acth-Secreting	Abnormal fear-induced behavior, Emotional lability, Oligomenorrhea, Obesity, Pituitary adenoma, A...	OMIM:219090
Hypothyroidism, Congenital, Nongoitrous, 2	Elevated circulating thyroid-stimulating hormone concentration, Thyroid agenesis, Thyroid hypopla...	OMIM:218700
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus	Lacrimal gland aplasia, Short philtrum, Decreased circulating progesterone, Low-set ears, Lacrima...	ORPHA:572333
Wiedemann-Rautenstrauch Syndrome	Hypertriglyceridemia, Corneal opacity, Severe intrauterine growth retardation, Action tremor, Ata...	ORPHA:3455
Arterial Calcification, Generalized, Of Infancy, 1	Cardiomegaly, Dilated cardiomyopathy, Hypophosphatemic rickets, Renal artery stenosis	OMIM:208000
Mitochondrial Complex Iv Deficiency, Nuclear Type 5	Hypospadias, Cerebellar vermis hypoplasia, Truncal ataxia, Gliosis, Tremor, Spasticity, Vomiting,...	OMIM:220111
Collagenoma, Familial Cutaneous	Sensorineural hearing impairment, Primary testicular failure, Iris atrophy	OMIM:115250
Sandhoff Disease	Hepatomegaly, Urinary incontinence, Increased urinary N-acetylglucosamine-rich oligosaccharide le...	OMIM:268800
Paroxysmal Nocturnal Hemoglobinuria	Anemia, Conjunctival icterus, Pancytopenia, Abnormal erythrocyte enzyme concentration or activity...	ORPHA:447
Familial Aortic Dissection	Cardiomegaly	ORPHA:229
Townes-Brocks Syndrome	Delayed puberty, Abnormal vagina morphology, Hypoplasia of penis, Absent toe, Abnormal pinna morp...	ORPHA:857
Retinoblastoma	Cleft palate, Pinealoma, Leukemia, Leukocoria	OMIM:180200
Fucosidosis	Cardiomegaly, Mucopolysacchariduria, Hepatomegaly	ORPHA:349
Complete Atrioventricular Septal Defect	Displacement of the papillary muscles, Hepatomegaly, Primum atrial septal defect, Right ventricul...	ORPHA:1329
3-Methylglutaconic Aciduria, Type Viii	Cerebral atrophy, Hypertonia, Tremor, Clonus, Growth delay, Failure to thrive, Neonatal death, Dy...	OMIM:617248
Ulna And Fibula, Absence Of, With Severe Limb Deficiency	Aplasia/hypoplasia of the femur, Carpal bone aplasia, Aplasia/Hypoplasia of the phalanges of the ...	OMIM:276820
Coffin-Siris Syndrome 1	Retrognathia, Clitoral hypertrophy, Sandal gap, Dislocated radial head, Abnormal pinna morphology...	OMIM:135900
Williams Syndrome	Hypoplasia of penis, Corneal opacity, Attention deficit hyperactivity disorder, Ataxia, Depressio...	ORPHA:904
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Hyperactivity, Impulsivity, Intrauterine growth retardation, Aggressive behavior, Hypospadias, Co...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Hyperactivity, Impulsivity, Intrauterine growth retardation, Aggressive behavior, Hypospadias, Co...	ORPHA:353277
Otopalatodigital Syndrome, Type Ii	Rocker bottom foot, Femoral bowing, Short ribs, Tibial bowing, Short metacarpal, Broad thumb, Hyp...	OMIM:304120
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To	Lethargy, Episodic vomiting	OMIM:615751
Exstrophy-Epispadias Complex	Penoscrotal transposition, Epispadias, Urinary incontinence, Bifid penis, Vesicoureteral reflux, ...	ORPHA:322
Developmental And Epileptic Encephalopathy 95	Cardiomegaly, Cryptorchidism, Hepatomegaly	OMIM:618143
Chromosome 17Q12 Deletion Syndrome	Retrognathia, Aplasia of the vagina, Upper limb undergrowth, Mandibular prognathia, Aplasia of th...	OMIM:614527
Lethal Congenital Contracture Syndrome 10	Cardiomegaly, Overriding aorta, Ventricular septal defect, Hypoplasia of the thymus	OMIM:617022
Lacrimoauriculodentodigital Syndrome 1	Recurrent corneal erosions, Mixed hearing impairment, Limbal stem cell deficiency, Microtia, Micr...	OMIM:149730
Posterior Urethral Valve	Postnatal growth retardation, Lethargy	ORPHA:93110
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome	Anemia, Gait disturbance, Bilateral cryptorchidism, Short stature, Hypogonadism, Cataract	ORPHA:3042
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy	Cardiomegaly, 3-Methylglutaconic aciduria, Cardiomyopathy	OMIM:619259
Neurooculorenal Syndrome	Mixed hearing impairment, Decreased circulating ACTH concentration, Short hallux, Sensorineural h...	OMIM:620305
Exercise-Induced Malignant Hyperthermia	Vomiting, Nausea, Ataxia, Thrombocytopenia, Lethargy	ORPHA:466650
Roberts-Sc Phocomelia Syndrome	Clitoral hypertrophy, Radial deviation of finger, Abnormal pinna morphology, Corneal opacity, Bil...	OMIM:268300
Naxos Disease	Right ventricular cardiomyopathy, Abnormal morphology of right ventricular trabeculae, Abnormal h...	OMIM:601214
Smooth Muscle Dysfunction Syndrome	Mydriasis, Cryptorchidism	OMIM:613834
Neu-Laxova Syndrome 1	Rocker bottom foot, Radial deviation of finger, Swollen lip, Clinodactyly, Pterygium, Camptodacty...	OMIM:256520
Abetalipoproteinemia	Decreased HDL cholesterol concentration, Hepatomegaly, Hypotriglyceridemia, Hyperbilirubinemia, A...	ORPHA:14
Alzahrani-Kuwahara Syndrome	Tip-toe gait, Long philtrum, Astigmatism, Hypospadias, Hypodontia, Narrow philtrum, Low-set ears,...	OMIM:619268
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Renal salt wasting, Hyperkalemia, Clitoral hypertrophy, Premature pubarche, Precocious puberty in...	ORPHA:90794
Autoinflammatory Disease, Systemic, With Vasculitis	Hepatomegaly, Elevated circulating C-reactive protein concentration, Congenital hydrocele, Paroti...	OMIM:620376
Floating-Harbor Syndrome	Hypospadias, Glandular hypospadias, Short stature, Varicocele, Epididymal cyst, Cryptorchidism, A...	OMIM:136140
Plague	Mydriasis, Hepatomegaly, Glossitis, Lymphadenitis, Hearing impairment, Conjunctival hyperemia, Un...	ORPHA:707
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Bicuspid aortic valve, Patent foramen ovale, Mitral valve prolapse, Left ventricular hypertrophy,...	OMIM:245600
Glycogen Storage Disease Of Heart, Lethal Congenital	Enlarged kidney, Cardiomyopathy, Hypertrophic cardiomyopathy, Pericardial effusion, Cardiomegaly,...	OMIM:261740
Liver Disease, Severe Congenital	Left atrial enlargement, Hypoproteinemia, Biliary hyperplasia, Hyperammonemia, Splenomegaly, Card...	OMIM:619991
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Intrauterine growth retardation, Failure to thrive, Lethargy	OMIM:617156
Gaucher Disease, Perinatal Lethal	Cardiomegaly, Hepatomegaly, Hepatosplenomegaly, Splenomegaly	OMIM:608013
Cantú Syndrome	Cardiomegaly, Abnormal heart valve morphology, Hypertrophic cardiomyopathy	ORPHA:1517
Cirrhosis, Familial	Lethargy	OMIM:215600
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland	Male infertility, Parathyroid agenesis, Congenital hypoparathyroidism	ORPHA:2239
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment	Cardiomegaly, Partial atrioventricular canal defect, Secundum atrial septal defect, Bicuspid aort...	OMIM:620066
Ulbright-Hodes Syndrome	Clitoral hypertrophy, Abnormal pinna morphology, Short ribs, Short metacarpal, Abnormal forearm b...	ORPHA:3404
Beckwith-Wiedemann Syndrome	Enlarged kidney, Hepatomegaly, Ureteral duplication, Abnormal pancreas morphology, Congenital meg...	ORPHA:116
Charge Syndrome	Delayed puberty, Mixed hearing impairment, Sensorineural hearing impairment, Microtia, Absent tib...	OMIM:214800
Pineoblastoma	Paralysis, Papilledema, Pinealoma, Lethargy	ORPHA:251909
Diphallia	Penoscrotal transposition, Epispadias, Bifid penis, Hypospadias, Ectopic scrotum, Abnormal sperma...	ORPHA:227
Lethal Acantholytic Erosive Disorder	Cardiomegaly, Cardiomyopathy	ORPHA:158687
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2	Mydriasis, Sensorineural hearing impairment, Peritonitis	OMIM:619351
Mucolipidosis Ii Alpha/Beta	Enlarged kidney, Hepatomegaly, Increased serum beta-hexosaminidase, Hypertrophic cardiomyopathy, ...	OMIM:252500
Ogden Syndrome	Left atrial enlargement, Perimembranous ventricular septal defect, Enlarged kidney, Cardiomegaly,...	OMIM:300855
Familial Thoracic Aortic Aneurysm And Aortic Dissection	Abnormality iris morphology, Arachnodactyly, Retrognathia, High, narrow palate	ORPHA:91387
Alström Syndrome	Hypertriglyceridemia, Precocious puberty in females, Primary hypothyroidism, Incoordination, Hype...	ORPHA:64
Interatrial Communication	Atrial septal defect, Sinus venosus atrial septal defect, Primum atrial septal defect, Secundum a...	ORPHA:1478
Townes-Brocks Syndrome 1	Clinodactyly of the 5th toe, Sensorineural hearing impairment, Microtia, Bifid scrotum, Broad thu...	OMIM:107480
Noonan Syndrome 1	Postnatal growth retardation, Male infertility, Juvenile myelomonocytic leukemia, Hypospadias, Am...	OMIM:163950
Ciliary Dyskinesia, Primary, 1	Abnormal cornea morphology, Male infertility, Absent outer dynein arms, Asplenia	OMIM:244400
Scorpion Envenomation	Mydriasis, Tremor, Acute pancreatitis, Ataxia	ORPHA:466677
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe	Bifid sternum	OMIM:140850
Fructose Intolerance, Hereditary	Gastrointestinal hemorrhage, Vomiting, Nausea, Failure to thrive, Lethargy	OMIM:229600
Mucopolysaccharidosis Type 3	Abnormal aortic valve morphology, Hepatomegaly, Mucopolysacchariduria, Abnormal mitral valve morp...	ORPHA:581
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies	Aplasia of the vagina, Aplasia of the uterus, Hydronephrosis, Urethral atresia, Absent external g...	OMIM:271520
Fucosidosis	Hepatomegaly, Glycopeptiduria, Splenomegaly, Cardiomegaly, Oligosacchariduria	OMIM:230000
Retinitis Pigmentosa 97	Iris atrophy	OMIM:620422
Truncus Arteriosus	Transposition of the great arteries, Abnormal heart valve morphology, Truncus arteriosus, Hypopla...	ORPHA:3384
Fanconi Anemia, Complementation Group L	Anemia, Microtia, Aplasia of the uterus, Low-set ears, Bone marrow hypocellularity, Micrognathia,...	OMIM:614083
Lethal Omphalocele-Cleft Palate Syndrome	Retrognathia, Cleft soft palate, Bifid uvula, Bifid uterus, Cleft palate, Unilateral cleft lip	ORPHA:2736
Sotos Syndrome	Cerebral atrophy, Astigmatism, Aggressive behavior, Hypospadias, Gastroesophageal reflux, Cerebel...	ORPHA:821
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	Abnormal metaphysis morphology, Long philtrum, Hypoplasia of penis, Abnormal pelvis bone ossifica...	ORPHA:93271
Pallister-Killian Syndrome	Aplasia of the uterus, Everted lower lip vermilion, Bifid uvula, Wide mouth, Small scrotum, Long ...	OMIM:601803
Cocaine Intoxication	Mydriasis, Tremor	ORPHA:90068
Tubulointerstitial Nephritis And Uveitis Syndrome	Normocytic anemia, Reduced hematocrit, Choroidal neovascularization, Iris nevus, Normochromic ane...	ORPHA:91500
Congenital Tracheomalacia	Abnormal heart morphology, Tetralogy of Fallot, Partial anomalous pulmonary venous return, Cardio...	ORPHA:95430
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome	Cardiomegaly	ORPHA:2463
Glycogen Storage Disease Due To Acid Maltase Deficiency	Hepatomegaly, Elevated circulating creatine kinase concentration, Hypertrophic cardiomyopathy, Le...	ORPHA:365
Pontocerebellar Hypoplasia Type 7	Gonadal dysgenesis, Clitoral hypertrophy, Abnormal scrotal rugation, Aplasia of the uterus, Micro...	ORPHA:284339
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Hepatomegaly, Ventricular hypertrophy, Unconjugated hyperbilirubinemia, Hepatosplenomegaly, Cardi...	OMIM:618278
Okamoto Syndrome	Polydactyly, Astigmatism, Abnormal helix morphology, Open bite, Exaggerated median tongue furrow,...	ORPHA:2729
Absence Of The Pulmonary Artery	Patent foramen ovale, Truncus arteriosus, Abnormal heart morphology, Tetralogy of Fallot, Cardiom...	ORPHA:980
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity	Cardiomegaly, Patent foramen ovale, Cryptorchidism	OMIM:620371
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome	Supernumerary nipple, Short lingual frenulum, High palate, Bifid uterus, Wide mouth, Syndactyly, ...	ORPHA:1521
Familial Idiopathic Dilatation Of The Right Atrium	Hepatomegaly, Atrial septal dilatation, Right atrial enlargement, Right ventricular hypertrophy, ...	ORPHA:1677
Cystic Fibrosis	Male infertility, Steatorrhea, Diarrhea, Meconium ileus, Failure to thrive, Hepatosplenomegaly, E...	OMIM:219700
Proteasome-Associated Autoinflammatory Syndrome 1	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hepatomegaly, Elevated circulating...	OMIM:256040
Bohring-Opitz Syndrome	Annular pancreas, Cholelithiasis, Cardiomegaly, Urinary retention, Abnormal cardiac septum morpho...	ORPHA:97297
Ehlers-Danlos Syndrome, Vascular Type	Thin vermilion border, Osteolytic defects of the phalanges of the hand, Anemia, Uterine rupture, ...	OMIM:130050
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome	Clinodactyly of the 5th finger, Aplasia of the vagina, Optic nerve hypoplasia, Aplasia of the ute...	ORPHA:457284
Tropical Endomyocardial Fibrosis	Left atrial enlargement, Endocardial fibrosis, Hepatomegaly, Right ventricular cardiomyopathy, Re...	ORPHA:75565
Osteoporosis-Pseudoglioma Syndrome	Tibial bowing, Iris atrophy, Absent anterior chamber of the eye, Metaphyseal widening, Cataract	OMIM:259770
Alpha-N-Acetylgalactosaminidase Deficiency Type 2	Cardiomegaly	ORPHA:79280
Congenital Total Pulmonary Venous Return Anomaly	Infracardiac total anomalous pulmonary venous connection, Atrial situs ambiguous, Transposition o...	ORPHA:99125
Eisenmenger Syndrome	Hypochromic microcytic anemia, Iron deficiency anemia, Increased mean corpuscular volume, Letharg...	ORPHA:97214
Craniorachischisis	Bifid sternum	ORPHA:63260
D-Bifunctional Protein Deficiency	Gliosis, Cerebellar atrophy, Bile duct proliferation, Corpus callosum atrophy, Failure to thrive,...	OMIM:261515
Glycine Encephalopathy	Lethargy	ORPHA:407
Loeys-Dietz Syndrome	Orofacial cleft, High palate, Camptodactyly of finger, Arachnodactyly, Bifid uvula, Micrognathia,...	ORPHA:60030
Generalized Arterial Calcification Of Infancy	Hypophosphatemic rickets, Ventricular hypertrophy, Medullary nephrocalcinosis, Pericardial effusi...	ORPHA:51608
Singleton-Merten Syndrome 1	Mitral valve calcification, Aortic valve stenosis, Aortic valve calcification, Cardiomegaly, Subv...	OMIM:182250

Histopathology

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

Phenotype	Allele	Zygosity	Life Stage
Eye - MPATH pathological entity term cataract	Hsd17b4^em1(IMPC)Tcp	HOM	Early adult
Testis - MPATH pathological process term hypoplasia	Hsd17b4^em1(IMPC)Tcp	HOM	Early adult
Epididymis - MPATH pathological process term aspermia	Hsd17b4^em1(IMPC)Tcp	HOM	Early adult
Eye - MPATH pathological process term dysplasia	Hsd17b4^em1(IMPC)Tcp	HOM	Early adult
Ovary - MPATH pathological process term follicular atresia	Hsd17b4^em1(IMPC)Tcp	HOM	Early adult

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Hsd17b4.

No publications found that use IMPC mice or data for Hsd17b4.

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MGI Allele	Allele Type	Produced
Hsd17b4^{tm40163(L1L2_gt1)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors
Hsd17b4^em1(IMPC)Tcp	Indel	Mice, Tissue

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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