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Gene: Slc30a4 MGI:1345282

Gene Summary

Name:

solute carrier family 30 (zinc transporter), member 4

Synonyms:

Znt4

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
small adrenal glands	Slc30a4^em1(IMPC)Tcp	HOM	Late adult	0.00
abnormal skin morphology	Slc30a4^em1(IMPC)Tcp	HOM	Early adult	0.00
short tibia	Slc30a4^em1(IMPC)Tcp	HOM	Early adult	4.65×10^-13
short tibia	Slc30a4^em1(IMPC)Tcp	HOM	Late adult	6.21×10^-07
enlarged kidney	Slc30a4^em1(IMPC)Tcp	HOM	Early adult	0.00
increased grip strength	Slc30a4^em1(IMPC)Tcp	HOM	Late adult	6.08×10^-06
cataract	Slc30a4^em1(IMPC)Tcp	HOM	Early adult	2.70×10^-05
abnormal ovary morphology	Slc30a4^em1(IMPC)Tcp	HOM	Late adult	0.00
small thymus	Slc30a4^em1(IMPC)Tcp	HOM	Late adult	0.00
decreased grip strength	Slc30a4^em1(IMPC)Tcp	HOM	Early adult	1.58×10^-05
tremors	Slc30a4^em1(IMPC)Tcp	HOM	Late adult	7.59×10^-06

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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.

Eye Morphology

Images Slit Lamp

123 Images

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Gross Pathology and Tissue Collection

Images

9 Images

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Eye Morphology

Images Ophthalmoscopy

147 Images

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Eye Morphology

Images Ophthalmoscopy

92 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

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X-ray

XRay Images Skull Lateral Orientation

10 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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Histopathology

Images

11 Images

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Gross Pathology and Tissue Collection

Images

8 Images

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X-ray

XRay Images Skull Lateral Orientation

10 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

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Eye Morphology

Images Slit Lamp

9 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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Human diseases caused by Slc30a4 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 Slc30a4 (0 diseases)
Human diseases predicted to be associated with Slc30a4 (1613 diseases)

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Slc30a4 by phenotypic similarity.

Disease	Matching phenotypes	Source
Syndactyly Type 4	1-5 finger syndactyly, Toe syndactyly, Camptodactyly of finger, 6 metacarpals, Hand polydactyly, ...	ORPHA:93405
Optic Atrophy 2	Tremor, Dysdiadochokinesis, Babinski sign, Absent Achilles reflex	OMIM:311050
Erythrokeratodermia Variabilis	Alopecia, Cataract, Skin rash, Short stature, Hypermelanotic macule, Corneal opacity, Abnormal ha...	ORPHA:317
Polycystic Kidney Disease 5	Stage 5 chronic kidney disease, Hepatosplenomegaly, Polycystic kidney dysplasia, Reduced renal co...	OMIM:617610
Acromesomelic Dysplasia 2C	Hypoplasia of the ulna, Shortening of all middle phalanges of the fingers, Radial bowing, Cuboida...	OMIM:201250
Congenital Ichthyosiform Erythroderma	Alopecia, Short stature, Keratitis, Pruritus, Corneal erosion, Hypohidrosis, Palmoplantar keratod...	ORPHA:79394
Acromesomelic Dysplasia 2A	Hypoplasia of the ulna, Short humerus, Short femur, Aplasia/Hypoplasia of the patella, Postaxial ...	OMIM:200700
Episodic Ataxia, Type 1	Incoordination, Tremor, Babinski sign, Slurred speech, Episodic ataxia, Spastic gait	OMIM:160120
Chondrodysplasia Punctata, Tibia-Metacarpal Type	Micromelia, Epiphyseal stippling, Short long bone, Short 3rd metacarpal, Limb undergrowth, Short ...	OMIM:118651
Osebold-Remondini Syndrome	Dysplastic distal radial epiphyses, Broad toe, Hypoplasia of the ulna, Tarsal synostosis, Type A ...	OMIM:112910
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3	Tremor, Slurred speech, Ataxia, Cerebellar ataxia associated with quadrupedal gait	OMIM:613227
Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis	Tremor, Spastic paraplegia, Pes cavus, Palmoplantar hyperkeratosis	OMIM:309560
Acromesomelic Dysplasia, Grebe Type	Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Brachydactyly, Tarsal synostosis, Micr...	ORPHA:2098
Primary Orthostatic Tremor	Tremor, Abnormality of extrapyramidal motor function	ORPHA:238606
Acrodermatitis Enteropathica, Zinc-Deficiency Type	Perianal erythema, Short stature, Ataxia, Tremor, Paronychia, Dry skin, Decreased serum zinc, Alo...	OMIM:201100
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome	Syndactyly, Hand oligodactyly, Tibial bowing, Foot oligodactyly, Short tibia, Fibular aplasia	OMIM:246570
Cataract 35	Cataract	OMIM:609376
Cataract 36	Cataract	OMIM:613887
Hereditary Hyperferritinemia-Cataract Syndrome	Cataract	ORPHA:163
Cataract 29	Cataract	OMIM:115800
Langer Mesomelic Dysplasia	Hypoplasia of the ulna, Radial bowing, Micrognathia, Hypoplasia of the radius, Short femoral neck...	OMIM:249700
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly	Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication	OMIM:188740
Fibular Hemimelia	Bowing of the legs, Structural foot deformity, Tibial bowing, Increased laxity of ankles, Foot ol...	ORPHA:93323
Hypertrophic Neuropathy And Cataract	Cataract	OMIM:239900
Endove Syndrome, Limb-Only Type	Short middle phalanx of the 2nd finger, Fibular hypoplasia, Disproportionate shortening of the ti...	OMIM:619217
Primary Dystonia, Dyt27 Type	Axial dystonia, Writer's cramp, Upper limb postural tremor, Focal dystonia, Limb dystonia, Oroman...	ORPHA:464440
Acheiropody	Carpal bone aplasia, Short humerus, Peromelia, Aplasia of the phalanges of the hand, Aplasia of t...	OMIM:200500
Graham Little-Piccardi-Lassueur Syndrome	Sparse scalp hair, Alopecia, Sparse axillary hair, Pruritus, Sparse pubic hair, Perifollicular hy...	ORPHA:505
Dystonia 27	Torticollis, Postural tremor, Writer's cramp, Limb dystonia, Oromandibular dystonia, Laryngeal dy...	OMIM:616411
Leri-Weill Dyschondrosteosis	Hypoplasia of the ulna, Radial bowing, Abnormal femoral neck morphology, Dorsal subluxation of ul...	OMIM:127300
Hidrotic Ectodermal Dysplasia	Slow-growing nails, Palmoplantar hyperkeratosis, Absent pubic hair, Sparse hair, Hyperkeratotic p...	ORPHA:189
Cataract And Congenital Ichthyosis	Cataract	OMIM:212400
Congenital Megacalycosis	Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne...	ORPHA:93109
Spinocerebellar Ataxia Type 15/16	Ataxia, Upper limb postural tremor, Gait ataxia, Head tremor, Tremor by anatomical site, Action t...	ORPHA:98769
Tremor, Hereditary Essential, 6	Postural tremor, Kinetic tremor, Head tremor, Vocal tremor	OMIM:618866
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness	Short thumb, Cataract	OMIM:274205
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development	Hypoplasia of the ulna, Short femur, Absent thumb, Cryptorchidism, Fibular hypoplasia, Aplasia/Hy...	OMIM:612447
Tremor, Hereditary Essential, 5	Kinetic tremor, Tongue tremor, Postural tremor, Intention tremor	OMIM:616736
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive	Keratoconus, Alopecia, Decreased circulating ceruloplasmin concentration, Decreased circulating c...	OMIM:242150
Intellectual Developmental Disorder With Poor Growth And With Or Without Seizures Or Ataxia	Aggressive behavior, Developmental cataract, Increased LDL cholesterol concentration, Gait ataxia...	OMIM:618808
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type	Short tibia, Hypoplasia of the radius, Pseudoarthrosis	OMIM:156230
Zinc Deficiency, Transient Neonatal	Decreased serum zinc, Alopecia, Eczema	OMIM:608118
Episodic Ataxia With Slurred Speech	Tremor, Slurred speech, Gait ataxia	ORPHA:401953
Lethal Faciocardiomelic Dysplasia	Microretrognathia, Hypoplasia of the ulna, Sandal gap, Radial club hand, Short thumb, Hypoplasia ...	ORPHA:1972
Gómez-López-Hernández Syndrome	Short stature, Ataxia, Corneal opacity, Impaired pain sensation, Low-set ears, Alopecia of scalp,...	ORPHA:1532
Odonto-Onycho Dysplasia-Alopecia Syndrome	Alopecia, Abnormal fingernail morphology, Sparse eyebrow, Hypoplastic toenails, Palmoplantar kera...	ORPHA:2722
Ichthyosis, Hystrix-Like, With Deafness	Sparse scalp hair, Sparse eyelashes, Absent eyelashes, Scarring alopecia of scalp, Sensorineural ...	OMIM:602540
Léri-Weill Dyschondrosteosis	Micromelia, Abnormal tibia morphology, Abnormal carpal morphology, Abnormal femur morphology, Tib...	ORPHA:240
Bardet-Biedl Syndrome 18	Renal insufficiency, Cataract, Stage 5 chronic kidney disease, Brachydactyly	OMIM:615995
Spastic Paraparesis And Deafness	Tremor, Hypogonadism, Spastic paraparesis	OMIM:312910
Spinocerebellar Ataxia 43	Ataxia, Tremor, Rigidity, Limb ataxia, Gait ataxia, Pes cavus	OMIM:617018
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form	Recurrent skin infections, Decreased serum iron, Corneal erosion, Dysphagia, Growth delay, Decrea...	ORPHA:89842
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome	Alopecia, Small for gestational age, Decreased response to growth hormone stimulation test, Ataxi...	ORPHA:3363
Disordered Steroidogenesis Due To Cytochrome P450 Oxidoreductase Deficiency	Ambiguous genitalia, Congenital adrenal hyperplasia, Increased circulating ACTH level	OMIM:613571
Kerion Celsi	Alopecia, Recurrent cutaneous abscess formation, Inflammatory abnormality of the skin, Recurrent ...	ORPHA:499
Alpha-N-Acetylgalactosaminidase Deficiency Type 3	Hepatomegaly, Cataract	ORPHA:79281
Gollop-Wolfgang Complex	Hand monodactyly, Bifid femur, Aplasia/Hypoplasia of the ulna, Ectrodactyly, Aplasia/Hypoplasia o...	ORPHA:1986
Leukoencephalopathy, Brain Calcifications, And Cysts	Ataxia, Tremor, Abnormal pyramidal sign, Abnormality of extrapyramidal motor function, Dystonia, ...	OMIM:614561
Immunodeficiency, Common Variable, 6	Hepatomegaly, Glomerulonephritis, Stage 5 chronic kidney disease, Mesangial Immune complex deposi...	OMIM:613496
Oliver-Mcfarlane Syndrome	Alopecia, Severe short stature, Small for gestational age, Decreased response to growth hormone s...	OMIM:275400
Primary Dystonia, Dyt13 Type	Torticollis, Generalized dystonia, Postural tremor, Involuntary movements, Dystonia, Torsion dyst...	ORPHA:98807
Mesomelic Dysplasia, Savarirayan Type	Abnormal foot morphology, Talipes equinovalgus, Hip dislocation, Mesomelia, Short tibia, Dislocat...	OMIM:605274
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7	Tremor, Pes cavus, Vocal cord paresis, Vocal cord paralysis	OMIM:158580
L-Ferritin Deficiency	Decreased circulating ferritin concentration, Restless legs, Alopecia	OMIM:615604
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis	Alopecia, Cataract, Sparse eyelashes, Elevated circulating creatine kinase concentration, Sparse ...	OMIM:615704
Corneal Dystrophy, Groenouw Type I	Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy, Granular corneal dystrophy	OMIM:121900
Slc39A8-Cdg	Failure to thrive in infancy, Abnormal blood zinc concentration, Short stature, Inability to walk...	ORPHA:468699
Acrocapitofemoral Dysplasia	Micromelia, Short proximal phalanx of thumb, Coxa vara, Hypoplastic iliac wing, Short palm, Short...	OMIM:607778
Dystonia 3, Torsion, X-Linked	Tremor, Chorea, Torsion dystonia, Myoclonus, Parkinsonism with favorable response to dopaminergic...	OMIM:314250
Spinocerebellar Ataxia 20	Postural tremor, Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Palatal tremor, Action tremor	OMIM:608687
Tremor, Hereditary Essential, 1	Postural tremor, Hand tremor, Action tremor	OMIM:190300
Bathing Suit Ichthyosis	Alopecia, Parakeratosis, Impaired temperature sensation, Palmoplantar hyperkeratosis, Hypohidrosi...	ORPHA:100976
Flynn-Aird Syndrome	Alopecia, Cataract, Ataxia, Hyperkeratosis, Progressive sensorineural hearing impairment, Alopeci...	OMIM:136300
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome	Sparse scalp hair, Abnormal eyelash morphology, Melanocytic nevus, Periodontitis, Sparse body hai...	ORPHA:1008
Parkinson Disease 15, Autosomal Recessive Early-Onset	Lower limb spasticity, Parkinsonism, Tremor, Rigidity, Babinski sign, Scissor gait, Bradykinesia,...	OMIM:260300
Hypotrichosis Simplex	Sparse scalp hair, Alopecia, Sparse eyelashes, Sparse eyebrow, Sparse hair, Sparse body hair	ORPHA:55654
Perifolliculitis Capitis Abscedens Et Suffodiens, Familial	Alopecia, Perifolliculitis, Alopecia of scalp	OMIM:260910
Alopecia Areata 1	Trachyonychia, Alopecia totalis, Nail pits, Patchy alopecia, Alopecia universalis	OMIM:104000
Ectodermal Dysplasia-Blindness Syndrome	Cataract, Abnormal fingernail morphology, Short stature, Corneal dystrophy, Sclerocornea, Skin ul...	ORPHA:1806
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss	Tremor, Abnormal foot morphology, Decreased patellar reflex, Absent patellar reflexes	OMIM:614369
Hypotrichosis 4	Sparse scalp hair, Alopecia, Sparse eyelashes, Sparse eyebrow, Uncombable hair, Sparse body hair	OMIM:146550
Alopecia Universalis Congenita	Absent eyebrow, Absent eyelashes, Absent pubic hair, Absent axillary hair, Alopecia universalis	OMIM:203655
Lipoid Congenital Adrenal Hyperplasia	Hypospadias, Congenital adrenal hyperplasia, Adrenogenital syndrome	OMIM:201710
Tietz Syndrome	Hypopigmentation of hair, White eyebrow, Abnormality of skin pigmentation, Abnormal anterior cham...	ORPHA:42665
Spinal Muscular Atrophy, Jokela Type	Pes planus, Tremor, Calf muscle hypertrophy, Hammertoe, Fasciculations, Pes cavus	OMIM:615048
Cataract 42	Cataract, Developmental cataract	OMIM:115900
Alopecia Areata 2	Alopecia of scalp, Patchy alopecia, Alopecia totalis, Alopecia universalis	OMIM:610753
Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy	Alopecia, Diffuse palmoplantar hyperkeratosis, Onychogryposis of toenails, Alopecia of scalp, Hyp...	OMIM:617294
Trichothiodystrophy 1, Photosensitive	Brittle hair, Protruding ear, Microcornea, Sparse hair, Tiger tail banding, Trichoschisis, Short ...	OMIM:601675
Dyskinesia With Orofacial Involvement, Autosomal Recessive	Tremor, Myoclonus, Dystonia, Frequent falls, Hypothyroidism	OMIM:619647
Segawa Syndrome, Autosomal Recessive	Parkinsonism, Tremor, Rigidity, Gait ataxia, Abnormality of extrapyramidal motor function, Myoclo...	OMIM:605407
Olmsted Syndrome 1	Subungual hyperkeratosis, Parakeratosis, Corneal opacity, Pruritus, Hyperparakeratosis, Periorifi...	OMIM:614594
Moynahan Syndrome	Alopecia, Short stature, Cachexia, Sensorineural hearing impairment, Hyperkeratosis, Sparse hair	ORPHA:2574
Candidiasis, Familial, 1	Alopecia, Chronic mucocutaneous candidiasis	OMIM:114580
Neutropenia, Severe Congenital, 9, Autosomal Dominant	Splenomegaly, Cataract, 3-Methylglutaconic aciduria	OMIM:619813
Palmoplantar Keratoderma And Congenital Alopecia 2	Alopecia totalis, Palmoplantar hyperkeratosis, Facial erythema, Developmental cataract, Hyperkera...	OMIM:212360
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation	Tremor, Spasticity, Babinski sign, Ataxia	OMIM:611105
Pili Torti-Onychodysplasia Syndrome	Absent eyebrow, Alopecia, Brittle hair, Abnormal pinna morphology, Eczema, Congenital onychodystr...	ORPHA:2890
Hypotrichosis 11	Sparse or absent eyelashes, Alopecia universalis, Absent axillary hair, Sparse hair, Aplasia/Hypo...	OMIM:615059
Lamellar Ichthyosis	Short stature, Pruritus, Lack of skin elasticity, Hyperkeratosis, Sparse hair, Abnormal helix mor...	ORPHA:313
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay	Tremor, Ataxia	OMIM:213000
Spinocerebellar Degeneration-Corneal Dystrophy Syndrome	Progressive cerebellar ataxia, Ataxia, Corneal dystrophy, Corneal opacity	ORPHA:3177
Dystonia, Dopa-Responsive	Resting tremor, Torticollis, Incoordination, Postural tremor, Writer's cramp, Babinski sign, Park...	OMIM:128230
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions	Ataxia, Parkinsonism, Tremor, Rigidity, Chorea, Myoclonus, Dystonia, Upper motor neuron dysfunction	ORPHA:401901
X-Linked Dominant Chondrodysplasia Punctata	Cataract, Abnormal pinna morphology, Sparse eyelashes, Abnormal hair pattern, Short stature, Spar...	ORPHA:35173
Myoclonus, Familial, 1	Ataxia, Myoclonus, Action myoclonus, Frequent falls, Action tremor	OMIM:614937
Spinocerebellar Ataxia 40	Ataxia, Tremor, Dysmetria, Gait ataxia, Ankle clonus, Dysdiadochokinesis, Spastic paraparesis, In...	OMIM:616053
Spastic Paraparesis-Deafness Syndrome	Cataract, Short stature, Ataxia, Impaired pain sensation, Sensorineural hearing impairment, Gait ...	ORPHA:2815
Tibial Hemimelia	Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Knee flexion contracture, Increased...	ORPHA:93322
Ichthyosis With Confetti	Short stature, Pruritus, Erythroderma, Palmoplantar hyperkeratosis, Hypoplastic nipples, Scaling ...	OMIM:609165
Nephronophthisis 16	Renal insufficiency, Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Nephronophthisi...	OMIM:615382
Alopecia Universalis	Absent eyelashes, Absent eyebrow, Patchy alopecia, Alopecia universalis	ORPHA:701
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome	Alopecia, Severe short stature, Hyperpigmentation of the skin, Hypopigmented skin patches, Protru...	ORPHA:2251
Laurin-Sandrow Syndrome	Syndactyly, Absent radius, Patellar aplasia, Short foot, Hand polydactyly, Triphalangeal thumb, B...	OMIM:135750
Classic Mycosis Fungoides	Alopecia, Skin rash, Eczema, Pruritus, Erythema, Hypopigmented skin patches, Skin ulcer, Hyperker...	ORPHA:2584
Spinocerebellar Ataxia, Autosomal Recessive 16	Tremor, Babinski sign, Limb ataxia, Ankle clonus, Hypogonadism, Truncal ataxia, Spasticity	OMIM:615768
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Hypoplasia of the ulna, Short digit, Metaphyseal spurs, Postaxial polydactyly, Metaphyseal wideni...	OMIM:613091
Clouston Syndrome	Alopecia, Brittle hair, Sparse eyelashes, Alopecia totalis, Slow-growing hair, Short stature, Spa...	OMIM:129500
Sandhoff Disease, Adult Form	Tremor, Focal dystonia, Gait ataxia, Fasciculations, Dystonia, Spasticity	ORPHA:309169
Peeling Skin Syndrome 1	Brittle hair, Short stature, Pruritus, Onycholysis, Palmoplantar hyperhidrosis, Nail dystrophy, E...	OMIM:270300
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements	Torticollis, Ataxia, Tremor, Chorea, Hyperkinetic movements, Dystonia	OMIM:618425
Epidermolysis Bullosa Simplex With Mottled Pigmentation	Alopecia, Plantar hyperkeratosis, Mixed hypo- and hyperpigmentation of the skin, Hypermelanotic m...	ORPHA:79397
Ectodermal Dysplasia 6, Hair/Nail Type	Sparse hair, Alopecia, Thin toenail, Dystrophic toenail	OMIM:614928
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy	Small for gestational age, Conjugated hyperbilirubinemia, Postnatal growth retardation, Sensorine...	OMIM:617093
Thumb Deformity And Alopecia	Alopecia, Short stature, Increased groin pigmentation with raindrop depigmentation	OMIM:188150
Aldh18A1-Related De Barsy Syndrome	Cataract	ORPHA:35664
Absence Deformity Of Leg-Cataract Syndrome	Cataract, Abnormality of the lower limb, Abnormal femur morphology, Abnormal epiphysis morphology...	ORPHA:2310
Flynn-Aird Syndrome	Alopecia, Cataract, Ataxia, Cachexia, Impaired pain sensation, Primary adrenal insufficiency, Ski...	ORPHA:2047
Ichthyosis, Congenital, Autosomal Recessive 11	Curly hair, Brittle hair, Sparse eyelashes, Corneal opacity, Curly eyelashes, Pruritus, Sparse ey...	OMIM:602400
Hepatorenocardiac Degenerative Fibrosis	Renal cyst, Hepatosplenomegaly, Tubular luminal dilatation, Renal interstitial fibrosis, Reduced ...	OMIM:619902
Orofaciodigital Syndrome Type 10	Radial deviation of the hand, Duplication of thumb phalanx, Tarsal synostosis, Micrognathia, Shor...	ORPHA:2756
Spinocerebellar Ataxia, Autosomal Recessive 4	Torticollis, Ataxia, Tremor, Babinski sign, Abnormal pyramidal sign, Gait ataxia, Myoclonus, Fasc...	OMIM:607317
Dystonia 11, Myoclonic	Tremor, Torticollis, Writer's cramp, Myoclonus	OMIM:159900
Spinocerebellar Ataxia Type 20	Isometric tremor, Ataxia, Kinetic tremor, Upper limb postural tremor, Abnormal pyramidal sign, Ga...	ORPHA:101110
N-Acetylaspartate Deficiency	Broad-based gait, Short stature, Unsteady gait, Truncal ataxia, Decreased body weight, Abnormal r...	OMIM:614063
Winchester Syndrome	Corneal opacity, Hirsutism	OMIM:277950
X-Linked Intellectual Disability, Stocco Dos Santos Type	Hyperactivity, Cataract, Short stature, Small for gestational age, Hirsutism	ORPHA:85288
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia	Sparse scalp hair, Alopecia, Abnormal fingernail morphology, Ectopia lentis, Hypoplastic toenails...	ORPHA:2325
Parkinsonism With Spasticity, X-Linked	Resting tremor, Parkinsonism, Babinski sign, Cogwheel rigidity, Bradykinesia, Spasticity	OMIM:300911
Tibial Aplasia-Ectrodactyly Syndrome	Finger syndactyly, Short femur, Preaxial hand polydactyly, Postaxial hand polydactyly, Split hand...	ORPHA:3329
Corneal Dystrophy-Perceptive Deafness Syndrome	Sensorineural hearing impairment, Corneal opacity, Corneal dystrophy	ORPHA:1490
Parkinsonism-Dystonia 1, Infantile-Onset	Dystonia, Parkinsonism, Oculogyric crisis, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Cog...	OMIM:613135
Bullous Dystrophy, Hereditary Macular Type	Severe short stature, Hyperpigmentation of the skin, Alopecia totalis, Abnormality of the nail	OMIM:302000
Chromosome 17P13.3, Telomeric, Duplication Syndrome	Contracture of the proximal interphalangeal joint of the 3rd finger, Short metacarpal, Brachydact...	OMIM:612576
Galactosemia Ii	Cataract, Galactosuria	OMIM:230200
Familial Reactive Perforating Collagenosis	Perifolliculitis, Inflammatory abnormality of the skin, Abnormal pinna morphology, Maculopapular ...	ORPHA:79147
Spinocerebellar Ataxia Type 31	Tremor, Spasticity, Gait ataxia	ORPHA:217012
Trichomegaly	Cataract	OMIM:190330
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia	Alopecia, Abnormal fingernail morphology, Abnormal hair morphology, Hypohidrosis, Fine hair, Abno...	ORPHA:248
Alopecia Totalis	Alopecia, Alopecia of scalp	ORPHA:700
Dyskinesia, Limb And Orofacial, Infantile-Onset	Tremor, Chorea, Hyperkinetic movements, Hemiballismus, Frequent falls	OMIM:616921
X-Linked Agammaglobulinemia	Recurrent cutaneous abscess formation, Alopecia, Sinusitis, Osteomyelitis, Skin rash, Short statu...	ORPHA:47
Cataract-Microcornea Syndrome	Cataract, Corneal opacity, Corneal dystrophy, Microcornea, Iris coloboma	ORPHA:1377
Blount Disease	Abnormality of the knee, Abnormality of the proximal tibial epiphysis, Abnormal tibial metaphysis...	ORPHA:2768
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome	Alopecia, Cataract, Corneal opacity, Hypopigmentation of hair, Aplasia/Hypoplasia of the iris, Pe...	ORPHA:1067
Phenylketonuria	Maternal hyperphenylalaninemia, Hyperactivity, Cataract, Eczema, Aggressive behavior, Hyperphenyl...	OMIM:261600
Alopecia-Intellectual Disability Syndrome 1	Alopecia, Alopecia universalis	OMIM:203650
Gonadoblastoma	Gonadal dysgenesis with female appearance, male, Gonadal calcification, Dysgerminoma, Increased s...	ORPHA:206484
Growth Delay-Intellectual Disability-Hepatopathy Syndrome	Sensorineural hearing impairment, Growth delay, Decreased serum zinc, Esophagitis, Intrauterine g...	ORPHA:541423
Pigmented Nodular Adrenocortical Disease, Primary, 3	Increased circulating cortisol level, Adrenal hyperplasia	OMIM:614190
Parc Syndrome	Absent eyelashes, Absent eyebrow, Alopecia	OMIM:600331
Intellectual Developmental Disorder, X-Linked, Syndromic, Armfield Type	Short foot, Abnormal hand morphology, Cataract, Small hand	OMIM:300261
Spinocerebellar Ataxia 37	Tremor, Frequent falls, Ataxia	OMIM:615945
Alopecia, Congenital	Sparse hair, Alopecia	OMIM:300042
Griscelli Syndrome, Type 1	Accumulation of melanosomes in melanocytes, White eyelashes, White eyebrow, Silver-gray hair, Lar...	OMIM:214450
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant	Alopecia, Cataract, Sparse eyelashes, Keratitis, Scarring alopecia of scalp, Sparse eyebrow, Faci...	OMIM:612843
Tremor, Hereditary Essential, 4	Postural tremor, Action tremor	OMIM:614782
Griscelli Syndrome, Type 3	Silver-gray hair, Large clumps of pigment irregularly distributed along hair shaft, White eyelashes	OMIM:609227
Satoyoshi Syndrome	Abnormality of the knee, Tapered finger, Nephrogenic diabetes insipidus, Abnormality of the humer...	ORPHA:3130
Chromosome 3Q29 Deletion Syndrome	Hyperactivity, Failure to thrive, Posteriorly rotated ears, Small for gestational age, Aggressive...	OMIM:609425
Epidermolysis Bullosa Simplex 5D, Generalized Intermediate, Autosomal Recessive	Pruritus, Alopecia, Plantar hyperkeratosis, Nail dystrophy	OMIM:616487
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy	Broad-based gait, Short stature, Hand tremor, Gait ataxia, Dysphagia, Recurrent hand flapping, Ab...	OMIM:617862
Orofaciodigital Syndrome Viii	Syndactyly, Short tibia, Polydactyly	OMIM:300484
Renal Dysplasia	Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure...	ORPHA:93108
Quinquaud Folliculitis Decalvans	Recurrent skin infections, Pustule, Scarring alopecia of scalp, Abnormal hair morphology, Erythem...	ORPHA:346
Galactosialidosis	Corneal opacity, Hearing impairment	ORPHA:351
Meckel Syndrome, Type 8	Polydactyly, Talipes equinovarus, Polycystic kidney dysplasia, Hyperechogenic kidneys, Enlarged k...	OMIM:613885
Sézary Syndrome	Alopecia, Pruritus, Tremor, Palmoplantar keratoderma, Nail dystrophy, Erythroderma, Irregular hyp...	ORPHA:3162
Rhizomelic Chondrodysplasia Punctata, Type 1	Alopecia, Severe short stature, Rhizomelia, Sensorineural hearing impairment, Elevated circulatin...	OMIM:215100
Hereditary Bullous Dystrophy, Macular Type	Alopecia, Cataract, Congenital abnormal hair pattern, Pneumonia, Short stature, Corneal opacity, ...	ORPHA:1867
Nephronophthisis 2	Absence of renal corticomedullary differentiation, Stage 5 chronic kidney disease, Chronic tubulo...	OMIM:602088
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Splenomegaly, Hepatomegaly, Enlarged kidney	OMIM:615285
Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome	Sparse scalp hair, Alopecia, Short stature, Sparse eyebrow, Hypothyroidism, Fine hair, Hypohidros...	ORPHA:1882
Aa Amyloidosis	Hepatomegaly, Proteinuria, Abnormality of the kidney, Chronic kidney disease, Nephrotic syndrome,...	ORPHA:85445
Hyperaldosteronism, Familial, Type I	Adrenal hyperplasia, Hyperaldosteronism, Adrenogenital syndrome, Decreased circulating renin level	OMIM:103900
Classic Phenylketonuria	Hypopigmentation of hair, Cataract, Eczema, Tremor, Lack of skin elasticity, Growth delay, Self-i...	ORPHA:79254
Spastic Ataxia 2, Autosomal Recessive	Spastic ataxia, Torticollis, Tremor, Head titubation, Babinski sign, Dysmetria, Gait ataxia, Ankl...	OMIM:611302
Holocarboxylase Synthetase Deficiency	Alopecia, Ataxia, Eczema, Anorexia, Hyperammonemia, Keratoconjunctivitis, Weight loss, Growth del...	ORPHA:79242
Netherton Syndrome	Sparse scalp hair, Skin rash, Eczema, Sparse eyelashes, Short stature, Sparse eyebrow, Abnormal h...	ORPHA:634
Parkinson Disease 13, Autosomal Dominant, Susceptibility To	Tremor, Parkinsonism with favorable response to dopaminergic medication, Rigidity, Bradykinesia	OMIM:610297
Keratoderma Hereditarium Mutilans	Alopecia, Sensorineural hearing impairment, Honeycomb palmoplantar hyperkeratosis, Self-injurious...	ORPHA:494
Chromosome 15Q11-Q13 Duplication Syndrome	Restrictive behavior, Unsteady gait, Truncal ataxia, Abnormal repetitive mannerisms, Inflexible a...	OMIM:608636
Epilepsy, Progressive Myoclonic, 1B	Ataxia, Tremor, Babinski sign, Dysmetria, Myoclonus	OMIM:612437
Spondyloepimetaphyseal Dysplasia, Missouri Type	Knee osteoarthritis, Flared metaphysis, Flattened epiphysis, Tibial bowing, Femoral bowing, Small...	ORPHA:93356
Hyperzincemia With Functional Zinc Depletion	Increased serum zinc, Skin rash	OMIM:601979
Trichodysplasia-Xeroderma Syndrome	Sparse scalp hair, Alopecia, Brittle hair, Sparse eyebrow, Sparse body hair, Coarse hair, Trichod...	ORPHA:3361
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige	Psoriasiform dermatitis, Recurrent skin infections, Eosinophilic infiltration of the esophagus, A...	OMIM:615508
Pityriasis Rubra Pilaris	Subungual hyperkeratosis, Eczema, Pruritus, Pustule, Palmoplantar keratoderma, Erythroderma, Irre...	ORPHA:2897
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay	Cataract, Developmental cataract	OMIM:613076
Chondrodysplasia Punctata 2, X-Linked Dominant	Cataract, Abnormal pinna morphology, Sparse eyelashes, Rhizomelia, Sparse eyebrow, Postnatal grow...	OMIM:302960
Severe Combined Immunodeficiency Due To Foxn1 Deficiency	Ridged nail, Nail pits, Congenital alopecia totalis	ORPHA:169095
Cataract-Nephropathy-Encephalopathy Syndrome	Renal tubular dysfunction, Cataract	ORPHA:1380
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome	Aplasia/Hypoplasia of the thumb, Patellar aplasia, Abnormal fibula morphology, Aplasia/Hypoplasia...	ORPHA:988
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome	Fused labia minora, Micrognathia, Ambiguous genitalia, female, Deformed humerus, Abnormality of t...	ORPHA:2975
Autosomal Dominant Epidermolytic Ichthyosis	Skin ulcer, Weight loss, Hyperkeratosis, Palmoplantar keratoderma, Erythroderma, Conjunctival ham...	ORPHA:312
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus	Tremor, Kinetic tremor	OMIM:611808
Acrofacial Dysostosis Syndrome Of Rodriguez	11 pairs of ribs, Overlapping toe, Micrognathia, Fibular hypoplasia, Talipes equinovarus, Triphal...	OMIM:201170
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly	Aplasia of the ulna, Split hand, Bifid femur, Hand monodactyly, Absent tibia, Foot monodactyly	OMIM:228250
Alopecia-Intellectual Disability-Hypergonadotropic Hypogonadism Syndrome	Alopecia totalis	ORPHA:1014
Netherton Syndrome	Sparse scalp hair, Parakeratosis, Brittle hair, Recurrent skin infections, Allergic rhinitis, Ecz...	OMIM:256500
Hyperphenylalaninemia, Bh4-Deficient, D	Tremor, Hypertonia	OMIM:264070
Alopecia, Familial Focal	Patchy alopecia	OMIM:104110
Alopecia-Intellectual Disability Syndrome 3	Alopecia universalis	OMIM:613930
Alopecia-Intellectual Disability Syndrome 2	Alopecia universalis	OMIM:610422
Alopecia, Androgenetic, 1	Alopecia	OMIM:109200
Spinocerebellar Ataxia 38	Ataxia, Tremor, Limb ataxia, Gait ataxia, Myoclonus	OMIM:615957
Macrosomia-Microphthalmia-Cleft Palate Syndrome	Microcornea, Corneal opacity, Large for gestational age	ORPHA:2432
Omenn Syndrome	Alopecia, Pneumonia, Pruritus, Thyroiditis, Dry skin, Erythroderma, Failure to thrive, Hypothyroi...	ORPHA:39041
Spinocerebellar Ataxia Type 14	Tremor, Rigidity, Limb ataxia, Gait ataxia, Progressive cerebellar ataxia, Myoclonus, Hyporeflexi...	ORPHA:98763
Ichthyosis, Congenital, Autosomal Recessive 1	Alopecia, Parakeratosis, Palmoplantar hyperkeratosis, Nail dystrophy, Nail dysplasia, Erythroderm...	OMIM:242300
Acrodermatitis Enteropathica	Ridged nail, Abnormal eyebrow morphology, Alopecia, Short stature, Anorexia, Pustule, Paronychia,...	ORPHA:37
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Alopecia, Cataract, Cachexia, Anorexia, Xerostomia, Hypokalemia, Paresthesia, Hypocalcemia, Nail ...	OMIM:175500
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement	Tremor, Chorea, Frequent falls, Hemiballismus	ORPHA:494526
Incontinentia Pigmenti	Uveitis, Hyperhidrosis, Abnormality of skin pigmentation, Abnormal toenail morphology, Infectious...	ORPHA:464
Spinal Muscular Atrophy, Late-Onset, Finkel Type	Tremor, Fasciculations	OMIM:182980
Inflammatory Skin And Bowel Disease, Neonatal, 1	Perianal erythema, Pustule, Paronychia, Otitis externa, Perioral erythema, Erythroderma, Failure ...	OMIM:614328
Pseudoprogeria Syndrome	Absent eyebrow, Alopecia, Short stature, Absent eyelashes, Sparse eyebrow, Growth delay, Decrease...	ORPHA:2985
Copper Deficiency, Familial Benign	Curly hair, Decreased circulating copper concentration, Seborrheic dermatitis, Early balding, Fai...	OMIM:121270
Spinocerebellar Ataxia 18	Tremor, Babinski sign, Dysmetria, Dysdiadochokinesis, Progressive gait ataxia, Pes cavus	OMIM:607458
Split-Hand/Foot Malformation With Long Bone Deficiency 1	Short hallux, Aplasia of the 3rd finger, Patellar aplasia, Split hand, Hand monodactyly, Split fo...	OMIM:119100
Intellectual Developmental Disorder, Autosomal Recessive 58	Short stature, Aggressive behavior, Pica, Choreoathetosis, Self-injurious behavior, Abnormal repe...	OMIM:617270
Adult Neuronal Ceroid Lipofuscinosis	Ataxia, Tremor, Abnormal pyramidal sign, Clumsiness, Abnormality of extrapyramidal motor function...	ORPHA:79262
Alopecia-Intellectual Disability Syndrome	Sparse scalp hair, Alopecia, Short stature, Growth delay, Macrotia, Sparse body hair, Aplasia/Hyp...	ORPHA:2850
46,Xx Testicular Difference Of Sex Development	Ambiguous genitalia, Male hypogonadism, Decreased testicular size, Polycystic ovaries	ORPHA:393
Atypical Pantothenate Kinase-Associated Neurodegeneration	Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Focal dystonia, Clumsiness, Limb...	ORPHA:216873
Autosomal Dominant Spastic Ataxia Type 1	Spastic ataxia, Lower limb spasticity, Tremor, Babinski sign, Spastic paraplegia, Limb ataxia, Le...	ORPHA:251282
Fibrodysplasia Ossificans Progressiva	Alopecia, Failure to thrive, Hearing impairment	ORPHA:337
Intellectual Developmental Disorder, X-Linked 72	Hyperactivity, Abnormal repetitive mannerisms, Short stature	OMIM:300271
Renpenning Syndrome	Abnormal hairshaft morphology, Alopecia, Severe short stature, Cataract, Cachexia, Sensorineural ...	ORPHA:3242
Acromesomelic Dysplasia 2B	Short metacarpal, Rhizomelia, Deformed tarsal bones, Talipes equinovalgus, Absent toe, Short meta...	OMIM:228900
Thanatophoric Dysplasia, Glasgow Variant	Cataract, Micromelia, Hepatosplenomegaly	OMIM:273680
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly	Congenital hip dislocation, Abnormal finger flexion crease, Aplasia/Hypoplasia of the 5th finger,...	OMIM:228930
Albinism, Oculocutaneous, Type Iii	Red hair, Partial albinism, Albinism	OMIM:203290
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency	Ambiguous genitalia, Male pseudohermaphroditism, Adrenal hyperplasia, Adrenogenital syndrome	OMIM:202110
Smith-Magenis syndrome	Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation, Short stature	DECIPHER:8
Chromosome 2Q37 Deletion Syndrome	Hyperactivity, Pain insensitivity, Short stature, Eczema, Highly arched eyebrow, Aggressive behav...	OMIM:600430
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities	Hyperactivity, Broad-based gait, Aggressive behavior, Tremor, Small nail, Abnormal repetitive man...	OMIM:619470
Ichthyosis Prematurity Syndrome	Allergic rhinitis, Pruritus, Follicular hyperkeratosis, Erythroderma, Alopecia of scalp, Hyperpig...	OMIM:608649
Corneal Dystrophy, Endothelial, X-Linked	Corneal opacity, Corneal dystrophy, Band keratopathy	OMIM:300779
Weismann-Netter Syndrome	Bowing of the long bones, Abnormal morphology of ulna, Abnormality of the thyroid gland, Abnormal...	ORPHA:3344
Waardenburg Syndrome, Type 2F	Hypermelanotic macule, Congenital sensorineural hearing impairment, Sensorineural hearing impairm...	OMIM:619947
Alopecia-Intellectual Disability Syndrome 4	Bilateral cryptorchidism, Alopecia, Agitation, Erythroderma	OMIM:618840
Parkinson Disease 11, Autosomal Dominant, Susceptibility To	Rigidity, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Bradyk...	OMIM:607688
Corneal Dystrophy, Posterior Polymorphous, 2	Corneal opacity, Corneal dystrophy	OMIM:609140
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures	Dystonia, Ataxia, Aggressive behavior, Chorea, Falls, Inappropriate laughter, Bruxism, Abnormal r...	OMIM:619150
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome	Hypogonadism, Abnormality of the ovary, Decreased testicular size	ORPHA:1875
Cataract 9, Multiple Types	Progressive cataract, Cataract, Developmental cataract, Microcornea, Iris coloboma	OMIM:604219
Fraxe Intellectual Disability	Hyperactivity, Short stature, Impulsivity, Aggressive behavior, Prominent ear helix, Stereotypica...	ORPHA:100973
Cataract 47	Microcornea, Cataract, Glycosuria	OMIM:612018
Asperger Syndrome, Susceptibility To, 1	Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines	OMIM:608638
Asperger Syndrome, Susceptibility To, 2	Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines	OMIM:608631
Autism, Susceptibility To, X-Linked 3	Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines	OMIM:300496
Autism, Susceptibility To, X-Linked 1	Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines	OMIM:300425
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome	Recurrent skin infections, Decreased serum iron, Overweight, Repetitive compulsive behavior, Abno...	ORPHA:391372
Obesity Due To Prohormone Convertase I Deficiency	Hypopigmentation of the skin, Decreased response to growth hormone stimulation test, Gonadotropin...	ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency	Hypopigmentation of the skin, Decreased response to growth hormone stimulation test, Gonadotropin...	ORPHA:71526
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor	Nephroblastoma, Enlarged kidney, Micrognathia	OMIM:618272
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures	Ataxia, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder	OMIM:618709
Dystonia-Parkinsonism-Hypermanganesemia Syndrome	Parkinsonism, Tremor, Babinski sign, Scissor gait, Ankle clonus, Bradykinesia, Dystonia, Oromandi...	ORPHA:521406
Palmoplantar Keratoderma And Congenital Alopecia 1	Alopecia, Brittle hair, Plantar hyperkeratosis, Epidermal hyperkeratosis, Sparse eyebrow, Leukony...	OMIM:104100
Cronkhite-Canada Syndrome	Alopecia, Generalized hyperpigmentation, Abnormal fingernail morphology, Cataract, Anorexia, Cach...	ORPHA:2930
Megalocornea	Iridodonesis, Cataract, Mosaic corneal dystrophy, Deep anterior chamber, Iris transillumination d...	OMIM:309300
Acromesomelic Dysplasia 3	Short phalanx of finger, Hypoplasia of the ulna, Elevated circulating luteinizing hormone level, ...	OMIM:609441
Lichen Planopilaris	Alopecia, Abnormal fingernail morphology, Pruritus, Hepatitis, Skin ulcer, Hypopigmented skin pat...	ORPHA:525
Progressive Supranuclear Palsy-Corticobasal Syndrome	Involuntary movements, Limb apraxia, Tremor, Rigidity, Abnormal pyramidal sign, Hand clenching, F...	ORPHA:240103
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections	Alopecia, Osteomyelitis, Recurrent skin infections, Eczema, Pruritus, Recurrent pneumonia, Bronch...	OMIM:618282
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13	Hypopigmentation of the skin, Hyperactivity, Hypopigmentation of hair, Ataxia, Broad-based gait, ...	ORPHA:411515
Spinocerebellar Ataxia Type 12	Ataxia, Parkinsonism, Postural tremor, Action tremor, Abnormal pyramidal sign, Bradykinesia, Poor...	ORPHA:98762
Autism Spectrum Disorder Due To Auts2 Deficiency	Hyperactivity, Small for gestational age, Eczema, Highly arched eyebrow, Short stature, Cryptorch...	ORPHA:352490
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency	Bifid scrotum, Decreased circulating cortisol level, Bilateral cryptorchidism, Blind vagina, Ambi...	ORPHA:90793
Parkinson-Dementia Syndrome	Tremor, Abnormal pyramidal sign, Rigidity, Parkinsonism	OMIM:260540
Autism	Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines	OMIM:209850
Autism, Susceptibility To, 8	Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines	OMIM:607373
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities	Tremor, Ataxia, Bilateral coxa valga, Limb dystonia	OMIM:620270
Autosomal Recessive Cutis Laxa Type 2A	Ataxia, Thick hair, Corneal opacity, Postnatal growth retardation, Inability to walk, Excessive w...	ORPHA:357058
Parkinson Disease 2, Autosomal Recessive Juvenile	Parkinsonism, Tremor, Rigidity, Bradykinesia, Dystonia	OMIM:600116
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2	Short palm, Ataxia, Tremor, Small hand, Dysmetria, Gait ataxia, Short foot, Dysdiadochokinesis, T...	OMIM:610185
Hyperprolinemia, Type I	Hyperactivity, Ataxia, Aggressive behavior, Hyperprolinemia, Abnormal repetitive mannerisms	OMIM:239500
Split-Hand With Congenital Nystagmus, Fundal Changes, And Cataracts	Split hand, Cataract, Split foot, Hand monodactyly	OMIM:183800
Piebald Trait-Neurologic Defects Syndrome	Abnormal eyebrow morphology, Hypopigmentation of hair, Ataxia, Abnormal eyelash morphology, Senso...	ORPHA:2885
Gomez-Lopez-Hernandez Syndrome	Hyperactivity, Alopecia, Posteriorly rotated ears, Decreased response to growth hormone stimulati...	OMIM:601853
Woolly Hair	Hypopigmentation of hair, Brittle hair, Slow-growing hair, Cataract, Abnormality of hair texture,...	ORPHA:170
Rhizomelic Chondrodysplasia Punctata	Alopecia, Cataract, Rhizomelia, Short stature, Growth delay, Dry skin, Sparse body hair	ORPHA:177
Galactosemia Iv	Cataract	OMIM:618881
Pili Torti	Abnormal eyebrow morphology, Alopecia, Brittle hair, Abnormality of hair texture, Abnormality of ...	ORPHA:2889
Monilethrix	Abnormal eyebrow morphology, Brittle hair, Slow-growing hair, Cataract, Abnormal eyelash morpholo...	ORPHA:573
Ectodermal Dysplasia 4, Hair/Nail Type	Absent eyebrow, Alopecia, Brittle hair, Absent eyelashes, Onycholysis, Nail dystrophy, Sparse bod...	OMIM:602032
Hereditary Sensory And Autonomic Neuropathy Type 1	Pain insensitivity, Osteomyelitis, Impaired temperature sensation, Inability to walk, Penetrating...	ORPHA:36386
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis	Postural tremor, Tremor, Rigidity, Babinski sign, Bradykinesia, Myoclonus, Dystonia, Parkinsonism...	ORPHA:314632
Insensitivity To Pain, Congenital, With Anhidrosis	Sparse scalp hair, Hyperactivity, Osteomyelitis, Anhidrosis, Pain insensitivity, Keratitis, Corne...	OMIM:256800
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency	Alopecia, Postural tremor, Iridocyclitis, Unsteady gait, Impaired proprioception, Truncal ataxia,...	ORPHA:412057
Encephalopathy, Progressive, With Or Without Lipodystrophy	Ataxia, Tremor, Abnormal pyramidal sign, Tetraparesis, Myoclonus, Dystonia, Spasticity	OMIM:615924
Epilepsy, Progressive Myoclonic 7	Tremor, Ataxia, Myoclonus	OMIM:616187
Intellectual Developmental Disorder With Hypertelorism And Distinctive Facies	Posteriorly rotated ears, Thin eyebrow, Low-set ears, High anterior hairline, Recurrent hand flap...	OMIM:618147
Intellectual Developmental Disorder With Autism And Speech Delay	Inability to walk, Abnormal repetitive mannerisms	OMIM:606053
Orofaciodigital Syndrome Iv	Toe syndactyly, Postaxial polydactyly, Micrognathia, Hand polydactyly, Foot polydactyly, Short fi...	OMIM:258860
Intellectual Developmental Disorder, Autosomal Recessive 39	Hyperactivity, Short stature, Aggressive behavior, Anteverted ears, Synophrys, Macrotia, Abnormal...	OMIM:615541
Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination	Failure to thrive, Abnormal repetitive mannerisms, Difficulty walking, Cataract	OMIM:617393
Hurler-Scheie Syndrome	Short stature, Corneal opacity, Sensorineural hearing impairment, Rhinitis, Generalized hirsutism	ORPHA:93476
Mucolipidosis Type Iii	Hearing abnormality, Acne, Short stature, Corneal opacity	ORPHA:577
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form	Recurrent skin infections, Glomerulonephritis, Corneal erosion, Gastrointestinal inflammation, Gr...	ORPHA:79408
Crandall Syndrome	Alopecia, Brittle hair, Sensorineural hearing impairment, Fine hair, Sparse body hair, Abnormal t...	ORPHA:202
Intellectual Developmental Disorder, Autosomal Dominant 7	Hyperactivity, Abnormal pinna morphology, Small for gestational age, Failure to thrive in infancy...	OMIM:614104
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Psoriasiform dermatitis, Failure to thrive in infancy, Eczema, Thyroiditis, Erythroderma, Patchy ...	OMIM:606367
Dystonia 28, Childhood-Onset	Torticollis, Tremor, Myoclonus, Retrocollis, Dystonia, Oromandibular dystonia, Spasticity, Laryng...	OMIM:617284
Alopecia-Contractures-Dwarfism Mental Retardation Syndrome	Large fleshy ears, Severe postnatal growth retardation, Alopecia, Severe short stature	OMIM:203550
Cortisone Reductase Deficiency 1	Alopecia, Acne, Obesity, Hirsutism	OMIM:604931
Mesomelic Dysplasia, Savarirayan Type	Broad tibial metaphyses, Bowing of the long bones, Glenoid fossa hypoplasia, Hip dislocation, Hig...	ORPHA:85170
Spastic Paraplegia 6, Autosomal Dominant	Lower limb spasticity, Clonus, Tremor, Babinski sign, Spastic paraplegia, Pes cavus, Spastic gait	OMIM:600363
Hypoalphalipoproteinemia, Primary, 2	Corneal arcus, Cataract	OMIM:618463
Metaphyseal Dysplasia, Braun-Tinschert Type	Broad tibial metaphyses, Tibial bowing, Humerus varus, Exostoses of the ulna, Sclerosis of middle...	ORPHA:85188
Foxg1 Syndrome	Dystonia, Short stature, Inability to walk, Bruxism, Choreoathetosis, Severe postnatal growth ret...	ORPHA:561854
Pontocerebellar Hypoplasia, Type 11	Decreased body weight, Broad-based gait, Short stature, Ataxia, Inability to walk, Limb ataxia, S...	OMIM:617695
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features	Failure to thrive in infancy, Aggressive behavior, Obesity, Self-injurious behavior, Compulsive b...	OMIM:613670
Short Syndrome	Alopecia, Severe short stature, Corneal opacity, Posterior embryotoxon, Sensorineural hearing imp...	ORPHA:3163
Bilateral Striopallidodentate Calcinosis	Intrauterine growth retardation, Corneal opacity	ORPHA:1980
Pachyonychia Congenita	Alopecia, Angular cheilitis, Ear pain, Paronychia, Onychogryposis of toenails, Linear arrays of m...	ORPHA:2309
Neuropathy, Hereditary Sensory, Type Iic	Short stature, Impaired distal proprioception, Hypoesthesia, Impaired distal vibration sensation,...	OMIM:614213
Primary Dystonia, Dyt2 Type	Torticollis, Generalized dystonia, Involuntary movements, Tremor, Torsion dystonia, Blepharospasm...	ORPHA:99657
Lysinuric Protein Intolerance	Hyperalaninemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterole...	ORPHA:470
Slc35A2-Cdg	Camptodactyly of finger, Spastic tetraparesis, Coxa valga, Precocious puberty, Metatarsus adductu...	ORPHA:356961
Larsen-Like Osseous Dysplasia-Short Stature Syndrome	Low-set, posteriorly rotated ears, Intrauterine growth retardation, Short stature, Corneal opacity	ORPHA:2370
Neuroectodermal Melanolysosomal Disease	Hypopigmentation of hair, Generalized hyperpigmentation, Ataxia, Tremor, Premature graying of hai...	ORPHA:33445
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency	Adrenal hyperplasia, Hypospadias, Adrenogenital syndrome	OMIM:201910
Spondyloperipheral Dysplasia-Short Ulna Syndrome	Hypoplasia of the ulna, Cataract, Broad hallux, Talipes, Short metatarsal, Flattened epiphysis, I...	ORPHA:1856
Corticobasal Syndrome	Speech apraxia, Dystonia, Parkinsonism, Limb apraxia, Involuntary movements, Tremor, Oromotor apr...	ORPHA:454887
Smith-Magenis Syndrome	Hyperactivity, Hypertriglyceridemia, Short stature, Impaired pain sensation, Synophrys, Self hugg...	OMIM:182290
Dystonia 13, Torsion, Autosomal Dominant	Torticollis, Writer's cramp, Tremor, Torsion dystonia, Blepharospasm, Limb dystonia, Oromandibula...	OMIM:607671
Johnson Neuroectodermal Syndrome	Absent eyebrow, Alopecia, Severe short stature, Absent eyelashes, Protruding ear, Hypohidrosis, M...	ORPHA:2316
Nicolaides-Baraitser Syndrome	Alopecia, Severe short stature, Eczema, Curly eyelashes, Highly arched eyebrow, Abnormal hair pat...	ORPHA:3051
Autoimmune Polyendocrinopathy Type 1	Hypoparathyroidism, Alopecia, Adrenal hyperplasia, Abnormal fingernail morphology, Cataract, Prim...	ORPHA:3453
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Short humerus, Proximal placement of thumb, Absent radius, Urethral atresia, Hand polydactyly, Hy...	OMIM:314390
Eiken Syndrome	Absence of the sacrum, Epiphyseal dysplasia, Abnormal acetabulum morphology, Abnormal fingertip m...	ORPHA:79106
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities	Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder	OMIM:617787
Ophthalmomandibulomelic Dysplasia	Radial bowing, Coxa valga, Fibular hypoplasia, Lateral humeral condyle aplasia, Opacification of ...	OMIM:164900
Ifap Syndrome 1, With Or Without Bresheck Syndrome	Atrichia, Scaling skin, Periungual erythema, Neonatal death, Dystrophic fingernails, Absent eyebr...	OMIM:308205
Keratoderma Hereditarium Mutilans With Ichthyosis	Alopecia, Scaling skin on fingertip, Parakeratosis, Sensorineural hearing impairment, Palmoplanta...	ORPHA:79395
Multiple Epiphyseal Dysplasia, Beighton Type	Abnormal metacarpophalangeal joint morphology, Abnormality of tibial epiphyses, Cataract, Abnorma...	ORPHA:166011
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature	Hyperactivity, Short stature, Highly arched eyebrow, Aggressive behavior, Tremor, Sensorineural h...	OMIM:618342
Congenital Disorder Of Glycosylation, Type Ig	Short humerus, Short femur, Rhizomelia, Sandal gap, Small scrotum, Hypospadias, Cryptorchidism, H...	OMIM:607143
Laurin-Sandrow Syndrome	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Talipes, Tarsal synostosis, A...	ORPHA:2378
Ichthyosis, Congenital, Autosomal Recessive 6	Parakeratosis, Hypohidrosis, Hyperkeratosis, Palmoplantar keratoderma, Scaling skin, Erythroderma...	OMIM:612281
Waardenburg Syndrome, Type 2B	Premature graying of hair, Sensorineural hearing impairment, White forelock, Heterochromia iridis	OMIM:600193
Autosomal Recessive Palmoplantar Keratoderma And Congenital Alopecia	Cataract, Alopecia totalis, Lack of skin elasticity, Palmoplantar keratoderma, Nail dystrophy	ORPHA:1366
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency	Bifid scrotum, Adrenal hyperplasia, Hypospadias, Scrotal hypospadias, Cryptorchidism, Male pseudo...	OMIM:201810
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Renal dysplasia, Hepatomegaly, Ureteral duplication, Cataract, Renal insufficiency, Long toe, Lon...	OMIM:608836
Prolidase Deficiency	Abnormality of retinal pigmentation, Abnormal fingernail morphology, Pruritus, Crusting erythemat...	ORPHA:742
Incontinentia Pigmenti	Ridged nail, Uveitis, Abnormality of skin pigmentation, Coarse hair, Pallor, Sparse hair, Atrophi...	OMIM:308300
Cdkl5-Deficiency Disorder	Impaired pain sensation, Synophrys, Growth delay, Gait disturbance, Inappropriate laughter, Diffi...	ORPHA:505652
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome	Hypoplasia of penis, Aplasia/Hypoplasia of the lens, Cataract, Hypospadias, Genu valgum	ORPHA:1381
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques	Anhidrosis, Alopecia, Abnormal fingernail morphology, Sensorineural hearing impairment, Erythema,...	ORPHA:659
Trichohepatoenteric Syndrome 2	Brittle hair, Small for gestational age, Decreased serum iron, Chronic hepatitis, Colitis, Uncomb...	OMIM:614602
2Q23.1 Microdeletion Syndrome	Hyperactivity, Short stature, Ataxia, Highly arched eyebrow, Cryptorchidism, Synophrys, Paroxysma...	ORPHA:228402
Basal Ganglia Calcification, Idiopathic, 1	Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Bradykinesia, Athetosis, Dysdiad...	OMIM:213600
Hepatic Adenomas, Familial	Maturity-onset diabetes of the young, Polycystic ovaries	OMIM:142330
Femoral-Facial Syndrome	Short femur, Micrognathia, Renal hypoplasia/aplasia, Long penis, Abnormal localization of kidney,...	ORPHA:1988
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset	Hypergonadotropic hypogonadism, Ataxia, Tremor, Abnormal pyramidal sign, Dysmetria, Gait ataxia, ...	OMIM:617145
Microphthalmia With Limb Anomalies	Micrognathia, Tibial bowing, Camptodactyly of 2nd-5th fingers, Foot oligodactyly, Clinodactyly of...	ORPHA:1106
Spinocerebellar Ataxia 34	Ataxia, Epidermal hyperkeratosis, Limb ataxia, Gait ataxia, Dysdiadochokinesis, Erythroderma, Int...	OMIM:133190
Radio-Tartaglia Syndrome	Tremor, Synophrys, Low anterior hairline, Conductive hearing impairment, Abnormal repetitive mann...	OMIM:619312
Juvenile Sialidosis Type 2	Cataract, Ataxia, Corneal opacity, Dysmetria, Dysphagia, Low-set ears, Generalized hypertrichosis...	ORPHA:93399
Anterior Segment Dysgenesis 8	Iridodonesis, Cataract, Ectopia lentis, Uveal ectropion, Hypoplasia of the iris, Iris transillumi...	OMIM:617319
Transketolase Deficiency	Cataract, Proportionate short stature, Seborrheic dermatitis, Elevated circulating ribitol concen...	ORPHA:488618
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy	Ridged nail, Alopecia, Nail dystrophy, Nail pits	OMIM:601705
Biotinidase Deficiency	Alopecia, Skin rash, Recurrent skin infections, Ataxia, Seborrheic dermatitis, Sensorineural hear...	OMIM:253260
Spondyloepiphyseal Dysplasia, Kondo-Fu Type	Waddling gait, Cataract, Small for gestational age, Posteriorly rotated ears, Short stature, Decr...	OMIM:618392
Ichthyosis, Congenital, Autosomal Recessive 2	Anhidrosis, Alopecia, Thin nail, Abnormal hair morphology, Erythema, Hypohidrosis, Growth delay, ...	OMIM:242100
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Alopecia, Glomerulonephritis, Eczema, Hepatitis, Arthritis, Erythroderma, Failure to thrive, Hypo...	OMIM:304790
Systemic Lupus Erythematosus 17	Alopecia, Chorea, Optic neuritis, Malar rash, Myelitis	OMIM:301080
Yemenite Deaf-Blind Hypopigmentation Syndrome	Patchy hypo- and hyperpigmentation, Microcornea, Numerous pigmented freckles, White forelock, Sev...	OMIM:601706
Monilethrix	Alopecia, Brittle hair, Abnormality of hair texture, Perifollicular hyperkeratosis, Nail dystroph...	OMIM:158000
Chilblain Lupus	Inflammatory abnormality of the skin, Skin rash, Discoid lupus rash, Skin ulcer, Hyperkeratosis, ...	ORPHA:90280
Christianson Syndrome	Dystonia, Cachexia, Truncal ataxia, Gait ataxia, Inappropriate laughter, Dysphagia, Macrotia, Abn...	ORPHA:85278
Dermoids Of Cornea	Corneal opacity	OMIM:304730
Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness	Epiphyseal dysplasia, Cataract, Coxa valga, Genu valgum, Short phalanx of finger, Brachydactyly	OMIM:132450
Epilepsy, Familial Adult Myoclonic, 4	Tremor, Myoclonus	OMIM:615127
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Fused labia majora, Decreased circulating cortisol level, Adrenal hyperplasia, Decreased circulat...	ORPHA:95699
Cataract 11, Multiple Types	Cataract, Developmental cataract	OMIM:610623
Chorea, Remitting, With Nystagmus And Cataract	Cataract	OMIM:601372
Endocrine-Cerebroosteodysplasia	Syndactyly, Bowed forearm bones, Ulnar deviation of the hand, Hypospadias, Sandal gap, Micromelia...	OMIM:612651
Congenital Disorder Of Glycosylation, Type If	Ataxia, Dry skin, Hyperkeratosis, Scaling skin, Erythroderma, Failure to thrive	OMIM:609180
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency	Hypopigmentation of hair, Short stature, Partial albinism	ORPHA:90023
Spinocerebellar Ataxia Type 37	Tremor, Cogwheel rigidity, Dysdiadochokinesis, Myoclonus, Truncal ataxia, Limb dysmetria	ORPHA:363710
Intellectual Developmental Disorder, X-Linked 109	Hyperactivity, Short stature, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agita...	OMIM:309548
Mucous Membrane Pemphigoid	Corneal opacity	ORPHA:46486
Adrenoleukodystrophy	Alopecia, Primary adrenal insufficiency, Limb ataxia, Attention deficit hyperactivity disorder, T...	OMIM:300100
Ectodermal Dysplasia-Syndactyly Syndrome 1	Sparse scalp hair, Alopecia, Sparse eyelashes, Absent facial hair, Hypoplastic toenails, Coarse h...	OMIM:613573
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome	Renal malrotation, Multicystic kidney dysplasia, Cataract, Long foot, Abnormal thumb morphology, ...	ORPHA:500095
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Hypoparathyroidism, Atrophic gastritis, Chronic active hepatitis, Alopecia, Cataract, Iridocyclit...	OMIM:240300
Congenital Lethal Erythroderma	Congenital exfoliative erythroderma, Failure to thrive, Hypoalbuminemia, Dry skin	ORPHA:1954
Glaucoma 3, Primary Congenital, D	Corneal opacity, Primary congenital glaucoma, Ectopia lentis	OMIM:613086
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Bifid scrotum, Hypoplastic pubic ramus, Proximal placement of thumb, Micrognathia, Short metatars...	OMIM:609945
Congenital Disorder Of Glycosylation, Type Iq	Cataract, Eczema, Dry skin, Cutis laxa, Abnormality of skin pigmentation, Hyperkeratosis, Low-set...	OMIM:612379
Stuve-Wiedemann Syndrome 1	Micrognathia, Femoral bowing, Tibial bowing, Knee flexion contracture, Short tibia, Short phalanx...	OMIM:601559
Upper Limb Defect-Eye And Ear Abnormalities Syndrome	Short thumb, Short metacarpal, Cataract	ORPHA:2489
Microphthalmia, Isolated, With Coloboma 3	Cataract, Iris coloboma	OMIM:610092
Familial Hyperaldosteronism Type Ii	Adrenal hyperplasia, Glucocortocoid-insensitive primary hyperaldosteronism, Abnormal circulating ...	ORPHA:404
Harlequin Ichthyosis	Cataract, Hearing abnormality, Hyperkeratosis, Self-injurious behavior, Erythroderma	ORPHA:457
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome	Hypopigmentation of hair, Short stature, Albinism, Pallor, Hypopigmentation of the skin	ORPHA:2786
Trichothiodystrophy	Ridged nail, Congenital exfoliative erythroderma, Brittle hair, Protruding ear, Gait ataxia, Micr...	ORPHA:33364
Chilblain Lupus 1	Abnormality of the nail, Chilblains, Skin ulcer	OMIM:610448
Baralle-Macken Syndrome	Cataract, Inability to walk, Hirsutism, Obesity, Dystonia, Cafe-au-lait spot, Striae distensae	OMIM:619255
Sialidosis Type 2	Short stature, Corneal opacity, Ataxia, Tremor, Hearing impairment	ORPHA:87876
Ectodermal Dysplasia 15, Hypohidrotic/Hair Type	Sparse scalp hair, Sparse eyelashes, Eczema, Slow-growing hair, Pruritus, Hypohidrosis, Palmoplan...	OMIM:618535
Hypotrichosis Simplex Of The Scalp	Abnormal eyebrow morphology, Sparse scalp hair, Parakeratosis, Allergic rhinitis, Absent facial h...	ORPHA:90368
Exfoliation Syndrome	Cataract, Abnormal lens morphology, Anisocoria, Pseudoexfoliation, Pigment deposition in the trab...	OMIM:177650
Prader-Willi Syndrome Due To Imprinting Mutation	Hypopigmentation of the skin, Hypopigmentation of hair, Short stature, Obesity, Polyphagia, Iris ...	ORPHA:177910
Dermatitis, Atopic	Keratoconus, Cataract, Recurrent skin infections, Allergic rhinitis, Eczema, Pruritus, Atopic der...	OMIM:603165
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type	Hyperactivity, Short stature, Hirsutism, Bruxism	OMIM:300434
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency	Decreased circulating cortisol level, Ambiguous genitalia, female, Increased circulating renin le...	ORPHA:90791
Developmental And Epileptic Encephalopathy 58	Inability to walk, Abnormal repetitive mannerisms	OMIM:617830
Epidermolytic Hyperkeratosis 2	Palmoplantar hyperkeratosis, Hyperkeratosis, Cobblestone-like hyperkeratosis, Palmoplantar kerato...	OMIM:620150
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Hepatomegaly, Renal insufficiency, Absence of renal corticomedullary differentiation, Splenomegal...	OMIM:263200
Congenital Heart Defect-Round Face-Developmental Delay Syndrome	Hypopigmentation of hair, Generalized hyperpigmentation, Short stature	ORPHA:1355
Syndromic Recessive X-Linked Ichthyosis	Short stature, Corneal opacity, Cryptorchidism, Hypohidrosis, Hyperkeratosis, Attention deficit h...	ORPHA:281090
Recessive X-Linked Ichthyosis	Cryptorchidism, Hypohidrosis, Hyperkeratosis, Attention deficit hyperactivity disorder, Opacifica...	ORPHA:461
Bent Bone Dysplasia Syndrome 2	Hepatomegaly, Ulnar deviation of the hand, Bowed humerus, Ulnar bowing, Femoral bowing, Short ste...	OMIM:620076
Aniridia And Absent Patella	Aniridia, Cataract, Aplasia/Hypoplasia of the patella	OMIM:106220
Hypohidrotic Ectodermal Dysplasia	Abnormal hair quantity, Sinusitis, Slow-growing hair, Eczema, Xerostomia, Dry skin, Hypohidrosis,...	ORPHA:238468
Mietens Syndrome	Hypoplasia of the ulna, Cataract, Corneal opacity, Talipes, Sclerocornea, Coxa valga, Metatarsus ...	ORPHA:2557
Mucoepithelial Dysplasia, Hereditary	Alopecia, Cataract, Pneumonia, Recurrent pneumonia, Chronic mucocutaneous candidiasis, Keratoconj...	OMIM:158310
Brunet-Wagner Neurodevelopmental Syndrome	Abnormal repetitive mannerisms, Self-injurious behavior, Low anterior hairline, Thin eyebrow	OMIM:619690
Hypomelanosis Of Ito	Macular hypopigmented whorls, streaks, and patches, Alopecia, Cataract, Iris coloboma	OMIM:300337
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome	Low-set, posteriorly rotated ears, Alopecia, Severe short stature, Moderate postnatal growth reta...	ORPHA:1005
Microcephalic Osteodysplastic Dysplasia, Saul-Wilson Type	Cataract, Hypoplasia of the odontoid process, Small hand, Cone-shaped epiphyses of the phalanges ...	ORPHA:85172
Acheiropodia	Short humerus, Aplasia of the ulna, Absent radius, Absent hand, Upper limb phocomelia, Abnormal e...	ORPHA:931
Autosomal Dominant Polycystic Kidney Disease	Renal insufficiency, Recurrent urinary tract infections, Chronic kidney disease, Stage 5 chronic ...	ORPHA:730
Hereditary Mucoepithelial Dysplasia	Alopecia, Cataract, Corneal dystrophy, Fine hair, Hyperkeratosis, Sparse hair	ORPHA:1839
Cystinosis	Short stature, Corneal opacity, Hypothyroidism, Hypokalemia, Gait disturbance, Hypophosphatemia, ...	ORPHA:213
Genetic Hyperferritinemia Without Iron Overload	Cataract, Increased circulating ferritin concentration, Abnormal serum iron concentration, Elevat...	ORPHA:254704
Robin Sequence With Cleft Mandible And Limb Anomalies	Proximal placement of thumb, Micrognathia, Clinodactyly of the 5th finger, Short tibia, Short pha...	OMIM:268305
Chanarin-Dorfman Syndrome	Alopecia, Ataxia, Sensorineural hearing impairment, Microtia, Subcapsular cataract	OMIM:275630
Neurodevelopmental Disorder With Hypotonia And Impaired Expressive Language And With Or Without Seizures	Abnormal repetitive mannerisms, Agitation, Aggressive behavior	OMIM:617171
Dystonia 12	Torticollis, Parkinsonism, Tremor, Bradykinesia, Dystonia	OMIM:128235
Waardenburg Syndrome Type 2	Hypopigmentation of hair, Sensorineural hearing impairment, Hypopigmented skin patches, Premature...	ORPHA:895
Diaphanospondylodysostosis	Nephrogenic rest, Micrognathia, Missing ribs, Nephroblastomatosis, Horseshoe kidney, Narrow pelvi...	OMIM:608022
Parkinson Disease 7, Autosomal Recessive Early-Onset	Resting tremor, Postural tremor, Rigidity, Leg dystonia, Blepharospasm, Bradykinesia, Parkinsonis...	OMIM:606324
Generalized Pustular Psoriasis	Hyponatremia, Elevated circulating C-reactive protein concentration, Pustule, Overweight, Cheilit...	ORPHA:247353
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly	Hepatomegaly, Cataract, Proteinuria, Glomerulonephritis, Rhizomelia, Short iliac bones, Metaphyse...	OMIM:614376
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive	Inability to walk, Self-injurious behavior, Abnormal repetitive mannerisms, Dystonia	OMIM:617820
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome	Precocious puberty, Aplasia of the phalanges of the 3rd toe, Hypergonadotropic hypogonadism, Poly...	ORPHA:2229
Immunodeficiency, Common Variable, 12, With Autoimmunity	Atrophic gastritis, Alopecia, Recurrent skin infections, Recurrent pneumonia, Pyoderma gangrenosu...	OMIM:616576
Hyperphenylalaninemia, Bh4-Deficient, C	Tremor, Choreoathetosis, Hypertonia, Myoclonus, Dystonia	OMIM:261630
Congenital Rubella Syndrome	Abnormality of retinal pigmentation, Cataract, Skin rash, Short stature, Corneal opacity, Sensori...	ORPHA:290
Griscelli Syndrome, Type 2	Accumulation of melanosomes in melanocytes, Silver-gray hair, Hypopigmentation of the skin, Melan...	OMIM:607624
Glut1 Deficiency Syndrome 2	Hemolytic anemia, Reticulocytosis, Ataxia, Tremor, Splenomegaly, Choreoathetosis, Dystonia	OMIM:612126
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)	Ataxia, Tremor, Babinski sign, Gait ataxia, Abnormality of extrapyramidal motor function, Myoclonus	OMIM:615362
Angelman Syndrome Due To A Point Mutation	Hypopigmentation of hair, Broad-based gait, Ataxia, Abnormal eating behavior, Tongue thrusting, O...	ORPHA:411511
Epilepsy, Familial Adult Myoclonic, 5	Tremor, Myoclonus	OMIM:615400
Bresek Syndrome	Alopecia, Cryptorchidism, Protruding ear, Growth delay, Low-set ears, Neonatal death, Intrauterin...	ORPHA:85284
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency	Hypoplasia of the vagina, Clitoral hypertrophy, Increased circulating androstenedione concentrati...	OMIM:202010
Albinism, Oculocutaneous, Type Iv	Hypopigmentation of hair, Blue irides, Albinism	OMIM:606574
Rapp-Hodgkin Syndrome	Sparse eyelashes, Slow-growing hair, Supernumerary nipple, Short stature, Sparse eyebrow, Dry ski...	OMIM:129400
Renal-Hepatic-Pancreatic Dysplasia 2	Hepatomegaly, Femoral bowing, Talipes equinovarus, Cystic renal dysplasia, Enlarged kidney	OMIM:615415
Woolly Hair Nevus	Curly hair, Patchy hypopigmentation of hair, Fine hair, Persistent pupillary membrane, Woolly sca...	ORPHA:79414
Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement	Torticollis, Upper limb postural tremor, Hand tremor, Blepharospasm, Myoclonus, Limb dystonia, Or...	ORPHA:420485
Familial Hyperaldosteronism Type I	Adrenal hyperplasia, Dexamethasone-suppressible primary hyperaldosteronism, Abnormal circulating ...	ORPHA:403
Senior-Loken Syndrome	Cataract, Chronic kidney disease, Stage 5 chronic kidney disease, Cone-shaped epiphysis, Nephrono...	ORPHA:3156
Intellectual Developmental Disorder, Autosomal Dominant 52	Hyperactivity, Small for gestational age, Asymmetry of the ears, Bilateral cryptorchidism, Crypto...	OMIM:617796
Chronic Actinic Dermatitis	Late onset atopic dermatitis, Progressive hyperpigmentation, Eczema, Allergic rhinitis, Pruritus,...	ORPHA:330064
Cri-Du-Chat Syndrome	Overfriendliness, Hyperactivity, Cataract, Abnormal pinna morphology, Small for gestational age, ...	OMIM:123450
Proliferating Trichilemmal Cyst	Sparse scalp hair, Skin ulcer	ORPHA:492
Gm1 Gangliosidosis	Failure to thrive, Generalized dystonia, Short stature, Ataxia, Dystonia, Corneal opacity, Tremor...	ORPHA:354
Bjornstad Syndrome	Anhidrosis, Alopecia, Brittle hair, Dry hair, Sensorineural hearing impairment, Coarse hair, Hair...	OMIM:262000
Tyrosinemia Type 2	Ataxia, Corneal opacity, Tremor, Hyperhidrosis, Hyperkeratosis, Palmoplantar keratoderma, Abnorma...	ORPHA:28378
Waardenburg Syndrome, Type 4A	White eyelashes, White eyebrow, Ataxia, Sensorineural hearing impairment, Blue irides, Hypopigmen...	OMIM:277580
4Q21 Microdeletion Syndrome	Tremor, Synophrys, Growth delay, Self-injurious behavior, Long eyelashes, Low-set ears, Intrauter...	ORPHA:238750
Kid Syndrome	Angular cheilitis, Posterior blepharitis, Scarring alopecia of scalp, Prelingual sensorineural he...	ORPHA:477
Spinocerebellar Ataxia 48	Ataxia, Parkinsonism, Tremor, Chorea, Babinski sign, Dysmetria, Gait ataxia, Dystonia	OMIM:618093
Lopes-Maciel-Rodan Syndrome	Tremor, Abnormal pyramidal sign, Small hand, Bradykinesia, Ankle clonus, Short foot, Hypertonia, ...	OMIM:617435
Dilution, Pigmentary	Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation	OMIM:126070
Microcephaly-Micromelia Syndrome	Micromelia, Micrognathia, Absent thumb, Absent radius, Missing ribs, Humeroradial synostosis, For...	OMIM:251230
Squalene Synthase Deficiency	Posteriorly rotated ears, Failure to thrive in infancy, Increased circulating farnesol concentrat...	OMIM:618156
Developmental And Epileptic Encephalopathy 64	Paroxysmal dystonia, Dystonia, Highly arched eyebrow, Sparse eyebrow, Inability to walk, Chorea, ...	OMIM:618004
Parkinson Disease 17	Resting tremor, Parkinsonism, Tremor, Rigidity, Bradykinesia	OMIM:614203
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia	Hyperactivity, Tremor, Inability to walk, Self-injurious behavior, Low-set ears, Bruxism, Abnorma...	OMIM:618718
Alpha-Heavy Chain Disease	Growth delay, Alopecia, Hypocalcemia	ORPHA:100025
Multiple Epiphyseal Dysplasia, Lowry Type	Epiphyseal dysplasia, Brachydactyly, Rhizomelia, Micrognathia, Delayed epiphyseal ossification, F...	ORPHA:166016
Immunodeficiency 58	Recurrent cutaneous abscess formation, Psoriasiform lesion, Eczema, Allergic rhinitis, Seborrheic...	OMIM:618131
Isolated Agammaglobulinemia	Recurrent cutaneous abscess formation, Sinusitis, Skin rash, Pneumonia, Short stature, Skin ulcer...	ORPHA:229717
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability	Cataract, Corneal opacity, Sensorineural hearing impairment, Posterior embryotoxon, Iris coloboma	ORPHA:1473
Intellectual Developmental Disorder, X-Linked, Syndromic 13	Resting tremor, Dystonia, Ataxia, Parkinsonism, Micrognathia, Tremor, Babinski sign, Spastic para...	OMIM:300055
Dystonia 24	Torticollis, Limb tremor, Blepharospasm, Arm dystonia, Head tremor, Oromandibular dystonia	OMIM:615034
Hemiparkinsonism-Hemiatrophy Syndrome	Parkinsonism, Tremor, Hemiparesis, Bradykinesia, Hemiatrophy, Dystonia	ORPHA:306669
Congenital Anomalies Of Kidney And Urinary Tract 3	Multicystic kidney dysplasia, Ectopic kidney, Renal hypoplasia, Vesicoureteral reflux, Hydronephr...	OMIM:618270
Reticular Dysgenesis	Skin rash, Skin ulcer, Weight loss, Chronic otitis media, Failure to thrive, Hearing impairment	ORPHA:33355
Porphyria Cutanea Tarda	Facial hypertrichosis, Alopecia, Hyperpigmentation in sun-exposed areas, Onycholysis	OMIM:176100
Familial Benign Copper Deficiency	Early balding, Decreased circulating copper concentration, Acne, Short stature	ORPHA:1551
Alport Syndrome 2, Autosomal Recessive	Renal insufficiency, Cataract, Proteinuria, Glomerular basement membrane lamellation, Corneal ero...	OMIM:203780
Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome	Congenital alopecia totalis, Sparse eyebrow, Unsteady gait, Dry skin, Absent pubic hair, Cutis la...	ORPHA:2269
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome	Enlarged polycystic ovaries, Enlarged kidney	ORPHA:90301
Sialidosis Type 1	Cataract, Short stature, Ataxia, Corneal opacity, Tremor, Sensorineural hearing impairment, Hyper...	ORPHA:812
Pseudopelade Of Brocq	Sparse scalp hair, Alopecia, Recurrent skin infections, Abnormal hair morphology, Cheilitis, Abno...	ORPHA:129
Congenital Sialidosis Type 2	Cataract, Ataxia, Corneal opacity, Dysmetria, Developmental cataract, Low-set ears, Generalized h...	ORPHA:93400
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism	Cataract	OMIM:254000
Morquio Syndrome C	Severe short stature, Corneal opacity	OMIM:252300
Porphyria Cutanea Tarda	Recurrent bacterial skin infections, Viral hepatitis, Decreased circulating hepcidin concentratio...	ORPHA:101330
Spinocerebellar Ataxia 7	Tremor, Chorea, Babinski sign, Dysmetria, Progressive cerebellar ataxia, Abnormality of extrapyra...	OMIM:164500
Buerger Disease	Paresthesia, Skin ulcer, Hyperhidrosis	ORPHA:36258
Mucopolysaccharidosis-Plus Syndrome	Hepatomegaly, Proteinuria, Splenomegaly, Metaphyseal widening, Clubbing, Nephrotic syndrome, Foca...	OMIM:617303
Polyendocrine-Polyneuropathy Syndrome	Alopecia, Ataxia, Anterior pituitary hypoplasia, Postnatal growth retardation, Central hypothyroi...	ORPHA:453533
Ataxia-Telangiectasia	Hypopigmentation of hair, Short stature, Ataxia, Tremor, Polycystic ovaries, Premature graying of...	ORPHA:100
Pachydermoperiostosis	Abnormal hair quantity, Osteomyelitis, Acne, Abnormal fingernail morphology, Elevated circulating...	ORPHA:2796
Stickler Syndrome Type 2	Sensorineural hearing impairment, Cataract, Corneal opacity	ORPHA:90654
Erythroderma, Lethal Congenital	Congenital exfoliative erythroderma, Failure to thrive, Hypoalbuminemia	OMIM:227090
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	Redundant neck skin, Posteriorly rotated ears, Small for gestational age, Elevated circulating cr...	OMIM:301056
Smith-Magenis Syndrome	Hypertriglyceridemia, Failure to thrive in infancy, Short stature, Impaired pain sensation, Hypot...	ORPHA:819
Free Sialic Acid Storage Disease	Ataxia, Failure to thrive in infancy, Skin ulcer, Abnormality of skin pigmentation, Athetosis, Ga...	ORPHA:834
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3	Ataxia, Tremor, Dysmetria, Gait ataxia, Hammertoe, Pes cavus	OMIM:618387
Baker-Gordon Syndrome	Ataxia, Inability to walk, Choreoathetosis, Self-injurious behavior, Dystonia, Abnormal repetitiv...	OMIM:618218
Microtriplication 11Q24.1	Attached earlobe, Keratoconus, Posteriorly rotated ears, Short stature, Synophrys, Hyperlipidemia...	ORPHA:289522
Neuropathy, Hereditary Sensory And Autonomic, Type Ic	Anhidrosis, Osteomyelitis, Impaired pain sensation, Dysesthesia, Impaired vibration sensation in ...	OMIM:613640
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Microretrognathia, Rhizomelia, Postaxial polydactyly, Squared iliac bones, Preaxial polydactyly, ...	OMIM:616300
Thyrotoxic Periodic Paralysis, Susceptibility To, 2	Decreased thyroid-stimulating hormone level, Increased circulating free T4 concentration, Hyperth...	OMIM:613239
Mal De Meleda	Inflammatory abnormality of the skin, Superficial dermal perivascular inflammatory infiltrate, No...	ORPHA:87503
Albinism, Oculocutaneous, Type Ib	Hypopigmentation of hair, Hypopigmentation of the skin, Albinism	OMIM:606952
Alstrom Syndrome	Decreased HDL cholesterol concentration, Alopecia, Chronic active hepatitis, Hypertriglyceridemia...	OMIM:203800
Cortical Dysplasia, Complex, With Other Brain Malformations 2	Self-injurious behavior, Abnormal repetitive mannerisms, Intrauterine growth retardation	OMIM:615282
Keratosis Follicularis Spinulosa Decalvans, X-Linked	Sparse eyelashes, Corneal dystrophy, Keratitis, Scarring alopecia of scalp, Sparse eyebrow, Facia...	OMIM:308800
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia	Brachydactyly, Aplasia/Hypoplasia of the fibula, Split foot, Short phalanx of finger, Fibular apl...	OMIM:113310
Cutis Laxa, Autosomal Recessive, Type Iiia	Cataract, Short stature, Cryptorchidism, Macrotia, Low plasma citrulline, Hyperammonemia, Cutis l...	OMIM:219150
Atelosteogenesis Type Iii	Absent humerus, Epiphyseal stippling of the humerus, Micrognathia, Short tubular bones of the han...	ORPHA:56305
Kury-Isidor Syndrome	Alopecia, Growth delay, Astigmatism, Attention deficit hyperactivity disorder, Low-set ears, Recu...	OMIM:619762
Hijazi-Reis Syndrome	Postnatal growth retardation, Astigmatism, Gait disturbance, Hyperbilirubinemia, Abnormal repetit...	OMIM:301094
Thrombocytopenia-Absent Radius Syndrome	Finger syndactyly, Abnormality of the kidney, Tibial torsion, Micrognathia, Absent radius, Aplasi...	ORPHA:3320
Menkes Disease	Alopecia, Brittle hair, Decreased circulating ceruloplasmin concentration, Short stature, Cutis l...	OMIM:309400
Familial Hemophagocytic Lymphohistiocytosis	Hypertriglyceridemia, Maculopapular exanthema, Skin rash, Increased circulating ferritin concentr...	ORPHA:540
Maternal Uniparental Disomy Of Chromosome 6	Clitoral hypertrophy, Hydrocele testis, Slender long bone, Increased serum testosterone level, Co...	ORPHA:96181
Huppke-Brendel Syndrome	Decreased circulating ceruloplasmin concentration, Decreased circulating copper concentration, In...	OMIM:614482
Acrogeria	Short stature, Skin ulcer, Fine hair, Excessive wrinkled skin, Irregular hyperpigmentation	ORPHA:2500
Hjv Or Hamp-Related Hemochromatosis	Generalized hyperpigmentation, Increased circulating ferritin concentration, Elevated transferrin...	ORPHA:79230
Hypotrichosis 5	Alopecia, Sparse eyelashes, Abnormal sweat gland morphology, Hearing abnormality, Absent pubic ha...	OMIM:612841
Griscelli Syndrome Type 3	Hypopigmentation of hair, Partial albinism, Iris hypopigmentation	ORPHA:79478
Zellweger-Like Syndrome Without Peroxisomal Anomalies	Alopecia, Brittle hair, Short stature, Intrauterine growth retardation, Failure to thrive, Hyperp...	ORPHA:50812
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development	Hematuria, Cataract, Iris coloboma	OMIM:120433
Spinocerebellar Ataxia, Autosomal Recessive 21	Tremor, Splenomegaly, Limb ataxia, Gait ataxia, Talipes equinovarus, Spasticity, Frequent falls	OMIM:616719
De Barsy Syndrome	Cataract, Short stature, Corneal opacity, Postnatal growth retardation, Cryptorchidism, Cutis lax...	ORPHA:2962
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome	Adrenal hyperplasia, Cerebral palsy, Spastic paraplegia, Abnormal circulating renin, Athetosis, H...	ORPHA:369929
X-Linked Sideroblastic Anemia	Hyperpigmentation of the skin, Pallor, Abnormality of iron homeostasis	ORPHA:75563
Srd5A3-Cdg	Cataract, Ataxia, Decreased response to growth hormone stimulation test, Hearing impairment, Abno...	ORPHA:324737
Tetragametic Chimerism	Bifid scrotum, Blood group antigen abnormality, True hermaphroditism, Ovotestis, Cryptorchidism, ...	ORPHA:199310
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome	Failure to thrive, Broad-based gait, Posteriorly rotated ears, Underdeveloped superior crus of an...	ORPHA:369950
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome	Prominent ear helix, Synophrys, Inability to walk, Low anterior hairline, Large earlobe, Long eye...	ORPHA:411986
Spinocerebellar Ataxia 23	Tremor, Babinski sign, Limb ataxia, Dysmetria, Gait ataxia	OMIM:610245
Neuropathy, Hereditary Sensory And Autonomic, Type Ia	Foot osteomyelitis, Osteomyelitis, Cataract, Impaired distal proprioception, Sensorineural hearin...	OMIM:162400
4H Leukodystrophy	Dystonia, Hypogonadotropic hypogonadism, Abnormality of thyroid physiology, Decreased response to...	ORPHA:289494
Xeroderma Pigmentosum, Complementation Group G	Tremor, Pes cavus, Spasticity, Ataxia	OMIM:278780
Epidermolysis Bullosa, Junctional 1A, Intermediate	Plantar hyperkeratosis, Patchy alopecia, Nail dystrophy, Fragile nails, Palmar hyperhidrosis	OMIM:226650
Severe Intellectual Disability And Progressive Spastic Paraplegia	Waddling gait, Short stature, Overweight, Difficulty walking, Dystonia, Abnormal repetitive manne...	ORPHA:280763
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Alopecia, Failure to thrive, Psoriasiform lesion, Erythroderma	ORPHA:169154
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency	Tremor, Talipes cavus equinovarus, Abnormal pyramidal sign, Progressive cerebellar ataxia, Myoclo...	ORPHA:139485
Dyskeratosis Congenita	White hair, Hyperhidrosis, Premature graying of hair, Periodontitis, Skin vesicle, Sparse hair, A...	ORPHA:1775
Orofaciodigital Syndrome Ix	Short tibia, Toe syndactyly, Hand polydactyly, Camptodactyly	OMIM:258865
Iris Pigment Layer, Cleavage Of	Cataract	OMIM:147610
Hemifacial Atrophy, Progressive	Microtia, Ataxia, Patchy alopecia, Poliosis	OMIM:141300
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly	Mirror image foot polydactyly, Preaxial foot polydactyly, Patellar hypoplasia, Popliteal pterygiu...	OMIM:119800
Non-Epidermolytic Palmoplantar Keratoderma	Pruritus, Diffuse palmoplantar hyperkeratosis, Erythema, Skin ulcer	ORPHA:2337
Xeroderma Pigmentosum	Conjunctival telangiectasia, Pterygium, Alopecia, Short stature, Hypermelanotic macule, Ataxia, C...	ORPHA:910
Galloway-Mowat Syndrome 6	Short stature, Decreased response to growth hormone stimulation test, Hypothyroidism, Growth dela...	OMIM:618347
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development	Cataract, Corneal opacity, Aggressive behavior, Myopic astigmatism, Protruding ear, Microcornea, ...	OMIM:152950
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Myositis, Abnormal blood ion concentration, Tubulointerstitial nephritis, Colitis, Hypoalbuminemi...	ORPHA:37042
Autosomal Spastic Paraplegia Type 58	Spastic ataxia, Torticollis, Clonus, Tremor, Chorea, Babinski sign, Abnormal pyramidal sign, Dysm...	ORPHA:397946
Shukla-Vernon Syndrome	Broad-based gait, Impulsivity, Aggressive behavior, Attention deficit hyperactivity disorder, Spa...	OMIM:301029
Spinocerebellar Ataxia, Autosomal Recessive 2	Incoordination, Ataxia, Tremor, Dysmetria, Gait ataxia, Limb ataxia, Spasticity, Pes cavus	OMIM:213200
Spinal And Bulbar Muscular Atrophy, X-Linked 1	Tremor, Calf muscle hypertrophy, Testicular atrophy, Fasciculations	OMIM:313200
Acrodysostosis 2 With Or Without Hormone Resistance	Hyperactivity, Cryptorchidism, Blue irides, Obesity, Congenital hypothyroidism, Red hair, Mild sh...	OMIM:614613
Usher Syndrome Type 3	Cataract, Ataxia, Sensorineural hearing impairment, Abnormal cochlea morphology, Astigmatism, Ves...	ORPHA:231183
Griscelli Syndrome Type 1	Partial albinism, Ataxia, Hyperlipidemia, White hair, Premature graying of hair, Iris hypopigment...	ORPHA:79476
Celiac Disease, Susceptibility To, 1	Alopecia, Short stature, Eczema, Ataxia, Postnatal growth retardation, Thyroiditis, Weight loss, ...	OMIM:212750
Cataract 50 With Or Without Glaucoma	Cataract, Persistent pupillary membrane	OMIM:620253
Pemphigus Foliaceus	Psoriasiform dermatitis, Acantholysis, Pruritus, Pustule, Crusting erythematous dermatitis, Eryth...	ORPHA:79481
Vogt-Koyanagi-Harada Disease	Abnormal eyebrow morphology, Sparse scalp hair, Cataract, Short stature, Poliosis, Abnormal eyela...	ORPHA:3437
Dracunculiasis	Recurrent cutaneous abscess formation, Skin rash, Pruritus, Skin ulcer, Arthritis	ORPHA:231
Mucolipidosis Ii Alpha/Beta	Cardiomegaly, Micrognathia, Metaphyseal widening, Megalocornea, Hepatomegaly, Hypoplasia of the o...	OMIM:252500
Piebaldism	Hypopigmentation of hair, White eyelashes, White eyebrow, Ataxia, Synophrys, Piebaldism, Hypopigm...	ORPHA:2884
Giant Cell Arteritis	Pericarditis, Alopecia, Ataxia, Anorexia, Vertigo, Skin ulcer, Weight loss, Hyperhidrosis, Arthri...	ORPHA:397
Mandibulofacial Dysostosis With Macroblepharon And Macrostomia	Posteriorly rotated ears, Corneal opacity, Keratitis, Synophrys, Microtia, Conjunctivitis, Recurr...	OMIM:602562
Neutral Lipid Storage Disease With Ichthyosis	Alopecia, Hypertriglyceridemia, Short stature, Ataxia, Sensorineural hearing impairment, Obesity,...	ORPHA:98907
Acth-Independent Macronodular Adrenal Hyperplasia	Adrenal hyperplasia, Decreased circulating ACTH concentration, Increased circulating cortisol lev...	OMIM:219080
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Cataract, Low anterior hairline, Elevated circulating creatine kinase concentration, Corneal opacity	OMIM:613153
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion	Hyperactivity, Hypopigmentation of hair, Ataxia, Broad-based gait, Abnormal eating behavior, Trem...	ORPHA:98794
Harel-Yoon Syndrome	Corneal opacity, Ataxia, Inability to walk, Developmental cataract, Dystonia	OMIM:617183
Rodrigues Blindness	Short stature, Sclerocornea, Fine hair, Protruding ear, Microcornea, Sparse hair	OMIM:268320
Chromosome 5P13 Duplication Syndrome	Posteriorly rotated ears, Small for gestational age, Low posterior hairline, Self-injurious behav...	OMIM:613174
Congenital Disorder Of Glycosylation, Type Im	Alopecia, Inflammatory abnormality of the skin, Sparse eyelashes, Increased circulating free fatt...	OMIM:610768
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta	Chronic oral candidiasis, Pneumonia, Anorexia, Recurrent pneumonia, Hepatitis, Otitis media, Eryt...	ORPHA:169160
Fucosidosis	Generalized hyperkeratosis, Corneal opacity, Hyperhidrosis, Failure to thrive, Hypothyroidism, Ab...	ORPHA:349
Developmental And Epileptic Encephalopathy 107	Abnormal repetitive mannerisms	OMIM:620033
Waardenburg Syndrome, Type 2A	White eyelashes, White eyebrow, Partial albinism, Albinism, Sensorineural hearing impairment, Syn...	OMIM:193510
Oculocutaneous Albinism, Type Viii	Iris transillumination defect, Hypopigmentation of hair, Hypopigmentation of the skin	OMIM:619165
Spinocerebellar Degeneration And Corneal Dystrophy	Corneal stromal edema, Ataxia, Corneal dystrophy, Opacification of the corneal stroma	OMIM:271310
Dyskeratosis Congenita, Autosomal Dominant 3	Alopecia, Short stature, Ataxia, Reticulated skin pigmentation, Cryptorchidism, Fine hair, Premat...	OMIM:613990
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type	Hypoplasia of the ulna, Abnormal morphology of ulna, Micromelia, Abnormal tibia morphology, Fibul...	ORPHA:2634
Elejalde Neuroectodermal Melanolysosomal Syndrome	Accumulation of melanosomes in melanocytes, Ataxia, Silver-gray hair, Melanin pigment aggregation...	OMIM:256710
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency	Ataxia, Tremor, Choreoathetosis, Dystonia, Oculomotor apraxia, Spasticity	OMIM:612716
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form	Alopecia, Recurrent skin infections, Hyperpigmentation of the skin, Corneal opacity, Erythema, De...	ORPHA:79396
Drug Reaction With Eosinophilia And Systemic Symptoms	Skin rash, Pustule, Myocarditis, Erythema, Hepatitis, Thyroiditis, Weight loss, Tubulointerstitia...	ORPHA:139402
Leprosy	Absent eyebrow, Alopecia, Impaired temperature sensation, Dysesthesia, Dissociated sensory loss, ...	ORPHA:548
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma	Alopecia, Sparse eyelashes, Acantholysis, Sparse eyebrow, Palmoplantar hyperkeratosis, Palmoplant...	OMIM:605676
Neurodegeneration With Brain Iron Accumulation 7	Lower limb spasticity, Ataxia, Tremor, Dysmetria, Dystonia, Pes cavus	OMIM:617916
Intellectual Developmental Disorder, Autosomal Dominant 34	Curly hair, Broad-based gait, Synophrys, Coarse hair, Bruxism, Abnormal repetitive mannerisms, He...	OMIM:616351
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract	Microcornea, Cataract, Aniridia	OMIM:106230
Coffin-Siris Syndrome 7	Sparse scalp hair, Hyperactivity, Hypoplastic fifth toenail, Posteriorly rotated ears, Severe tem...	OMIM:618027
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities	Cryptorchidism, Chorea, Inability to walk, Gait ataxia, Self-injurious behavior, Compulsive behav...	OMIM:618917
Hyperparathyroidism, Transient Neonatal	Short femur, Metaphyseal spurs, Unilateral renal agenesis, Femoral bowing, Short long bone, Short...	OMIM:618188
Congenital Varicella Syndrome	Cataract, Micromelia	ORPHA:291
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome	Alopecia, Highly arched eyebrow, Synophrys, Palmoplantar hyperkeratosis, Protruding ear, Hypohidr...	ORPHA:3253
Dyskeratosis Congenita, Autosomal Recessive 6	Alopecia, Ataxia, Abnormality of skin pigmentation, Nail dystrophy, Sparse hair, Intrauterine gro...	OMIM:616353
Atelis Syndrome 1	Cataract, Glue ear, Eczema, Bronchiectasis, Cafe-au-lait spot, Microtia, Attention deficit hypera...	OMIM:620184
Alpha-Mannosidosis	Cataract, Corneal opacity, Arthritis, Abnormal helix morphology, Chronic otitis media, Macrotia, ...	ORPHA:61
Monosomy 18P	Alopecia, Generalized dystonia, Short stature, Low posterior hairline, Protruding ear, Abnormal a...	ORPHA:1598
Neurodegeneration With Brain Iron Accumulation 3	Ataxia, Writer's cramp, Parkinsonism, Tremor, Rigidity, Chorea, Babinski sign, Choreoathetosis, B...	OMIM:606159
Olmsted Syndrome 2	Parakeratosis, Pruritus, Perioral hyperkeratosis, Cheilitis, Palmoplantar hyperkeratosis, Hyperke...	OMIM:619208
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma	Conjunctival telangiectasia, Alopecia, Hypermelanotic macule, Multinodular goiter, Dry skin, Palm...	OMIM:618373
Ichthyosis, Congenital, Autosomal Recessive 10	Hyperkeratosis, Orthokeratotic hyperkeratosis, Palmoplantar keratoderma, Erythroderma	OMIM:615024
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome	Alopecia, Short stature, Melanocytic nevus, Central adrenal insufficiency, Small pituitary gland,...	OMIM:612079
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type	Curly hair, Failure to thrive, Short stature, Ataxia, Aggressive behavior, Self-injurious behavio...	OMIM:300986
Potocki-Lupski Syndrome	Hyperactivity, Small for gestational age, Short stature, Oral-pharyngeal dysphagia, Hypothyroidis...	OMIM:610883
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type	Hypopigmentation of hair, Generalized dystonia, Ataxia, Inability to walk, Chorea, Dysphagia, Fai...	ORPHA:70472
Bangstad Syndrome	Ataxia, Abnormality of the parathyroid gland, Hyperinsulinemia, Polycystic ovaries, Deviation of ...	ORPHA:1227
Aicardi-Goutieres Syndrome 6	Hemolytic anemia, Rigidity, Splenomegaly, Tremor, Dystonia, Thrombocytopenia	OMIM:615010
Waardenburg Syndrome, Type 4B	White eyelashes, White eyebrow, Sensorineural hearing impairment, Blue irides, Hypopigmented skin...	OMIM:613265
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures	Tremor, Chorea, Gait ataxia, Myoclonus, Truncal ataxia	OMIM:618587
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia	Foot osteomyelitis, Impaired pain sensation, Skin ulcer, Gait disturbance, Acral ulceration	ORPHA:139578
Mandibuloacral Dysplasia With Type A Lipodystrophy	Abnormal eyebrow morphology, Alopecia, Cataract, Short stature, Absent eyelashes, Hyperlipidemia,...	ORPHA:90153
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome	Short stature, Decreased response to growth hormone stimulation test, Overweight, Tremor, Self-mu...	ORPHA:457240
Cataract 10, Multiple Types	Nuclear cataract, Zonular cataract, Posterior Y-sutural cataract, Developmental cataract	OMIM:600881
Intellectual Developmental Disorder, Autosomal Dominant 48	Hyperactivity, Eczema, Highly arched eyebrow, Sensorineural hearing impairment, Recurrent pneumon...	OMIM:617751
Cataract 21, Multiple Types	Corneal opacity, Cerulean cataract, Microcornea, Cortical pulverulent cataract, Peters anomaly, I...	OMIM:610202
X-Linked Parkinsonism-Spasticity Syndrome	Resting tremor, Babinski sign, Scissor gait, Cogwheel rigidity, Bradykinesia, Ankle clonus, Spast...	ORPHA:363654
Alpha-Methylacyl-Coa Racemase Deficiency	Hypergonadotropic hypogonadism, Ataxia, Tremor, Hemiparesis, Spasticity, Intention tremor	OMIM:614307
Generalized Epilepsy With Febrile Seizures-Plus	Pes planus, Incoordination, Ataxia, Tremor, Poor fine motor coordination, Bradykinesia, Limited k...	ORPHA:36387
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor	Bulging epiphyses, Bowing of the long bones, Rickets of the lower limbs, Delayed epiphyseal ossif...	OMIM:600785
Idiopathic Trachyonychia	Ridged nail, Thin nail, Concave nail, Atopic dermatitis, Nail pits, Patchy alopecia, Nail dystrop...	ORPHA:79153
Epidermolytic Hyperkeratosis 1	Scaling skin, Palmoplantar hyperkeratosis, Erythroderma	OMIM:113800
Faciocardiomelic Dysplasia, Lethal	Hypoplasia of the ulna, Radial deviation of the hand, Talipes, Micrognathia, Short thumb, Hypopla...	OMIM:227270
Neurodegeneration With Brain Iron Accumulation 8	Tremor, Ataxia, Dysmetria	OMIM:617917
19Q13.11 Microdeletion Syndrome	Cataract, Hearing impairment, Supernumerary nipple, Cachexia, Cryptorchidism, Dry skin, Fine hair...	ORPHA:217346
Neurodegeneration And Seizures Due To Copper Transport Defect	Short femur, Glandular hypospadias, Talipes equinovarus, Short tibia, Limb hypertonia	OMIM:620306
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency	Alopecia, Acute hyperammonemia, Seborrheic dermatitis, Hyperammonemia, Opisthotonus, Hyperleucine...	OMIM:210210
Immunodeficiency 107, Susceptibility To Invasive Staphylococcus Aureus Infection	Chronic furunculosis, Pyoderma gangrenosum, Cutaneous abscess	OMIM:619986
Björnstad Syndrome	Alopecia, Sensorineural hearing impairment, Brittle hair	ORPHA:123
Monomelic Amyotrophy	Tremor, Fasciculations	ORPHA:65684
Adams-Oliver Syndrome 2	Alopecia, Low anterior hairline, Protruding ear, Developmental cataract, Small nail, Low-set ears	OMIM:614219
Laurence-Moon Syndrome	Finger syndactyly, Renal insufficiency, Hypoplasia of penis, Cataract, Hand polydactyly, Displace...	ORPHA:2377
Progeria-Short Stature-Pigmented Nevi Syndrome	Neoplasm of the pancreas, Alopecia, Cataract, Small for gestational age, Short stature, Broad-bas...	ORPHA:2959
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities	Ataxia, Tremor, Gait ataxia, Large fleshy ears, Impaired tactile sensation, Low-set ears, Overfol...	OMIM:619092
Juvenile Hyaline Fibromatosis	Abnormal hair morphology, Skin ulcer	ORPHA:2028
Bazex-Dupre-Christol Syndrome	Hyperpigmentation of the skin, Eczema, Trichorrhexis nodosa, Atopic dermatitis, Hypohidrosis, Coa...	OMIM:301845
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Absent gallbladder, Postaxial polydactyly, Micrognathia, Septate vagina, Preaxial polydactyly, Hy...	OMIM:617925
Lattice Corneal Dystrophy Type I	Subepithelial corneal opacities, Corneal opacity, Central opacification of the cornea, Corneal sc...	ORPHA:98964
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy	Tremor, Ataxia	OMIM:619099
Ectodermal Dysplasia-Skin Fragility Syndrome	Chapped lip, Recurrent skin infections, Short stature, Pruritus, Recurrent pneumonia, Cheilitis, ...	ORPHA:158668
Ichthyosis, Congenital, Autosomal Recessive 9	Orthokeratosis, Hyperkeratosis, Hypohidrosis, Erythroderma	OMIM:615023
Oculocerebral Hypopigmentation Syndrome, Cross Type	Hypopigmentation of hair, Cataract, Short stature, Ataxia, Corneal opacity, Cryptorchidism, Senso...	ORPHA:2719
Congenital Disorder Of Glycosylation, Type Iia	Thick eyebrow, Failure to thrive, Posteriorly rotated ears, Short stature, Aggressive behavior, P...	OMIM:212066
Jaberi-Elahi Syndrome	Broad-based gait, Brittle hair, Sparse eyelashes, Cataract, Sparse eyebrow, Tremor, Inability to ...	OMIM:617988
Developmental Delay And Seizures With Or Without Movement Abnormalities	Ataxia, Tremor, Rigidity, Bradykinesia, Dystonia	OMIM:617836
Werner Syndrome	Sparse scalp hair, Abnormality of retinal pigmentation, Cataract, Short stature, Abnormal hair wh...	ORPHA:902
Schöpf-Schulz-Passarge Syndrome	Alopecia, Ovarian neoplasm, Palmoplantar keratoderma, Sparse hair, Aplasia/Hypoplasia of the eyebrow	ORPHA:50944
Omenn Syndrome	Alopecia, Pneumonia, Hypoplasia of the thymus, Erythroderma, Failure to thrive, Hypoproteinemia	OMIM:603554
Tangier Disease	Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ...	OMIM:205400
Sanjad-Sakati Syndrome	Low-set, posteriorly rotated ears, Hypoparathyroidism, Short stature, Corneal opacity, External e...	ORPHA:2323
X-Linked Dystonia-Parkinsonism	Resting tremor, Chorea, Torsion dystonia, Hand tremor, Focal dystonia, Blepharospasm, Bradykinesi...	ORPHA:53351
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly	Thick eyebrow, Pain insensitivity, Aggressive behavior, Tremor, Synophrys, Low anterior hairline,...	OMIM:617061
Marie Unna Hereditary Hypotrichosis	Sparse scalp hair, Alopecia, Sparse or absent eyelashes, Coarse hair, Aplasia/Hypoplasia of the e...	ORPHA:444
Tibial Hemimelia	Absent tibia	OMIM:275220
Burkitt Lymphoma	Decreased proportion of CD4-positive helper T cells, Abnormality of the spleen, Abnormality of th...	ORPHA:543
Brooke-Spiegler Syndrome	Skin appendage neoplasm, Salivary gland neoplasm, Abnormality of the auditory canal, Skin ulcer, ...	ORPHA:79493
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Eczema, Elevated circulating creatine kinase concentration, Lymphadenitis, Growth delay, Inflamma...	OMIM:615895
Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome	Alopecia, Posteriorly rotated ears, Supernumerary nipple, Sensorineural hearing impairment, Protr...	ORPHA:3224
Olmsted Syndrome, X-Linked	Subungual hyperkeratosis, Parakeratosis, Alopecia totalis, Posterior blepharitis, Palmoplantar hy...	OMIM:300918
Rauch-Steindl Syndrome	Attached earlobe, Hyperactivity, Short stature, Highly arched eyebrow, Aggressive behavior, Promi...	OMIM:619695
Nasopalpebral Lipoma-Coloboma Syndrome	Cataract, Corneal opacity, Abnormality of cartilage of external ear, Abnormal eyelash morphology,...	ORPHA:2399
Megalocornea-Intellectual Disability Syndrome	Iridodonesis, Short stature, Ataxia, Hypothyroidism, Sensorineural hearing impairment, Protruding...	ORPHA:2479
Lipoid Proteinosis Of Urbach And Wiethe	Hyperkeratosis, Patchy alopecia, Aggressive behavior	OMIM:247100
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant	Recurrent bacterial skin infections, Sparse eyelashes, Trichiasis, Keratitis, Sparse eyebrow, Sen...	OMIM:148210
Parkinsonism-Dystonia 2, Infantile-Onset	Incoordination, Ataxia, Oculogyric crisis, Parkinsonism, Tremor, Dysdiadochokinesis, Dystonia	OMIM:618049
Cerebral Creatine Deficiency Syndrome 2	Lower limb spasticity, Ataxia, Tremor, Rigidity, Paraparesis, Hypertonia, Myoclonus, Progressive ...	OMIM:612736
Pigmented Nodular Adrenocortical Disease, Primary, 4	Primary hypercortisolism, Diabetes mellitus, Increased circulating cortisol level, Adrenal hyperp...	OMIM:615830
Albinism, Oculocutaneous, Type Ii	Hypopigmentation of hair, Freckles in sun-exposed areas, Albinism, Blue irides, Red hair, Hypopig...	OMIM:203200
Developmental Delay, Language Impairment, And Ocular Abnormalities	Hyperactivity, Short stature, Impulsivity, Aggressive behavior, Myopic astigmatism, Developmental...	OMIM:620141
Xq28 (MECP2) duplication	Inability to walk, Macrotia, Gait ataxia, Dysphagia, Failure to thrive, Abnormal repetitive manne...	DECIPHER:45
Waardenburg Syndrome Type 1	Hypopigmentation of hair, White eyelashes, White eyebrow, Abnormal hair morphology, Congenital se...	ORPHA:894
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome	Alopecia, Brittle hair, Abnormal pinna morphology, Short stature, Abnormality of the anterior pit...	ORPHA:75389
Cutis Laxa, Autosomal Dominant 3	Corneal opacity, Postnatal growth retardation, Cutis laxa, Protruding ear, Developmental cataract...	OMIM:616603
Mucopolysaccharidosis Type 3	Synophrys, Coarse hair, Otitis media, Aspiration pneumonia, Thickened helices, Conductive hearing...	ORPHA:581
Parkinsonism-Dystonia 3, Childhood-Onset	Ataxia, Parkinsonism, Tremor, Chorea, Hypertonia, Hyperkinetic movements, Dystonia, Action tremor	OMIM:619738
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome	Alopecia, Short stature, Iris coloboma	ORPHA:88630
Mucolipidosis Iv	Corneal opacity, Opacification of the corneal stroma, Dystonia	OMIM:252650
Gracile Syndrome	Increased serum pyruvate, Increased circulating ferritin concentration, Increased serum iron, Int...	OMIM:603358
Cerebrooculofacioskeletal Syndrome 2	Cataract, Small for gestational age, Developmental cataract, Growth delay, Sparse hair, Intrauter...	OMIM:610756
Dentici-Novelli Neurodevelopmental Syndrome	Cataract, Inability to walk, Macrotia, Abnormal repetitive mannerisms, Hearing impairment	OMIM:619877
Ameloonychohypohidrotic Syndrome	Hypohidrosis, Onycholysis, Dry skin, Seborrheic dermatitis	OMIM:104570
Cataract 1, Multiple Types	Microcornea, Posterior subcapsular cataract, Nuclear cataract, Pulverulent cataract	OMIM:116200
Anterior Segment Dysgenesis 7	Cataract, Corneal opacity, Sclerocornea, Microcornea, Buphthalmos, Anterior synechiae of the ante...	OMIM:269400
Adult Syndrome	Sparse scalp hair, Alopecia, Absent nipple, Skin ulcer, Fine hair, Nail pits, Melanocytic nevus, ...	ORPHA:978
Distal Duplication 6P	Abnormal hair quantity, Cataract, Short stature, Abnormal eyelash morphology, Aplasia/Hypoplasia ...	ORPHA:1745
Spinocerebellar Ataxia, Autosomal Recessive 31	Dystonia, Ataxia, Tremor, Bruxism, Growth delay, Choreoathetosis, Bilateral sensorineural hearing...	OMIM:619422
Hereditary Acrokeratotic Poikiloderma	Short stature, Eczema, Pustule, Erythema, Xerostomia, Hypopigmented skin patches, Skin ulcer, Ker...	ORPHA:2907
Takayasu Arteritis	Increased inflammatory response, Anorexia, Skin ulcer, Weight loss, Hyperhidrosis, Arthritis, Inf...	ORPHA:3287
Atypical Rett Syndrome	Dystonia, Involuntary movements, Tremor, Limb myoclonus, Small hand, Gait ataxia, Pill-rolling tr...	ORPHA:3095
Craniosynostosis With Fibular Aplasia	Cryptorchidism, Fibular aplasia	OMIM:218550
Brittle Cornea Syndrome 1	Keratoconus, Keratoglobus, Abnormal cornea morphology, Decreased corneal thickness, Palmoplantar ...	OMIM:229200
Kaposiform Lymphangiomatosis	Abnormal ischium morphology, Abnormal pelvis bone morphology, Abnormal humerus morphology, Spleno...	ORPHA:464329
Mitochondrial Complex Iii Deficiency, Nuclear Type 2	Resting tremor, Incoordination, Ataxia, Dystonia, Tremor, Paraparesis, Babinski sign, Gait apraxi...	OMIM:615157
Cataract-Growth Hormone Deficiency-Sensory Neuropathy-Sensorineural Hearing Loss-Skeletal Dysplasia Syndrome	Cataract, Short stature, Decreased response to growth hormone stimulation test, Sensorineural hea...	ORPHA:436174
Hemolytic Anemia Due To Glutathione Reductase Deficiency	Cataract	OMIM:618660
Trichohepatoenteric Syndrome 1	Curly hair, Brittle hair, Small for gestational age, Short stature, Fine hair, Cafe-au-lait spot,...	OMIM:222470
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome	Ataxia, Glomerulonephritis, Synophrys, Fine hair, Growth delay, Head tremor, Abnormal repetitive ...	OMIM:619428
Thiel-Behnke Corneal Dystrophy	Subepithelial corneal opacities, Astigmatism, Central corneal dystrophy, Recurrent corneal erosio...	ORPHA:98960
Cardiofaciocutaneous Syndrome 4	Absent eyebrow, Curly hair, Cataract, Sparse eyelashes, Decreased response to growth hormone stim...	OMIM:615280
Ectodermal Dysplasia 7, Hair/Nail Type	Sparse scalp hair, Alopecia, Brittle hair, Sparse eyelashes, Abnormal sweat gland morphology, Spa...	OMIM:614929
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency	Endometrial carcinoma, Decreased circulating cortisol level, Adrenal hyperplasia, Male pseudoherm...	ORPHA:90790
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome	Highly arched eyebrow, Inability to walk, Sensorineural hearing impairment, Self-injurious behavi...	ORPHA:457351
Multiple Sulfatase Deficiency	Abnormality of retinal pigmentation, Cataract, Short stature, Corneal opacity, Sensorineural hear...	ORPHA:585
Prolidase Deficiency	Eczema, Recurrent pneumonia, Crusting erythematous dermatitis, Skin ulcer, Low posterior hairline...	OMIM:170100
Ovarian Fibrothecoma	Ovarian fibroma, Abnormal circulating hormone concentration, Abnormal endometrium morphology, Gon...	ORPHA:314478
Leigh Syndrome	Alopecia, Failure to thrive, Ataxia, Eczema, Dystonia, Cataract, Sensorineural hearing impairment...	ORPHA:506
Dent Disease 1	Bowing of the legs, Delayed epiphyseal ossification, Femoral bowing, Nephrocalcinosis, Tibial bow...	OMIM:300009
Developmental Delay, Behavioral Abnormalities, And Neuropsychiatric Disorders	Overweight, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder	OMIM:620065
Hemochromatosis, Type 4	Cataract, Increased circulating ferritin concentration, Osteoarthritis, Elevated transferrin satu...	OMIM:606069
Infantile Neuronal Ceroid Lipofuscinosis	Ataxia, Tremor, Chorea, Dysmetria, Clumsiness, Poor fine motor coordination, Myoclonus, Myoclonic...	ORPHA:79263
46,Xx Ovotesticular Difference Of Sex Development	Bifid scrotum, Abnormal male internal genitalia morphology, Hypoplasia of penis, Small scrotum, H...	ORPHA:2138
46,Xy Complete Gonadal Dysgenesis	Male pseudohermaphroditism, Hypogonadotropic hypogonadism, Testicular dysgenesis, Polycystic ovaries	ORPHA:242
Erythrokeratodermia Variabilis Et Progressiva 1	Generalized hyperkeratosis, Patchy palmoplantar hyperkeratosis, Erythroderma	OMIM:133200
Ritscher-Schinzel Syndrome 4	Curly hair, Short stature, Ataxia, Impulsivity, Aggressive behavior, Cryptorchidism, Chorea, Athe...	OMIM:619435
Blepharophimosis-Impaired Intellectual Development Syndrome	Sparse scalp hair, Posteriorly rotated ears, Sparse eyelashes, Highly arched eyebrow, Sparse eyeb...	OMIM:619293
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Uveitis, Hyperconvex fingernails, Conjunctivitis, Sparse hair, Abnormality of the nail, Absent ey...	ORPHA:2273
Oculocerebrocutaneous Syndrome	Alopecia, Abnormal fingernail morphology, Corneal opacity, External ear malformation, Cryptorchid...	ORPHA:1647
Intellectual Developmental Disorder, Fra12A Type	Hyperkeratosis, Erythroderma	OMIM:136630
Familial Hyperaldosteronism Type Iii	Glucocortocoid-insensitive primary hyperaldosteronism, Adrenal hyperplasia, Dexamethasone-suppres...	ORPHA:251274
Uncombable Hair Syndrome	Abnormal hair morphology, White hair, Coarse hair, Patchy alopecia, Trichodysplasia, Woolly hair	ORPHA:1410
Coenzyme Q10 Deficiency, Primary, 9	Lower limb spasticity, Ataxia, Tremor, Dysmetria, Myoclonus	OMIM:619028
Omodysplasia 2	Short humerus, Hypospadias, Micrognathia, Cryptorchidism, Uterus didelphys, Fibular hypoplasia, H...	OMIM:164745
Short Stature, Developmental Delay, And Congenital Heart Defects	Proportionate short stature, Uveitis, Developmental cataract, Self-injurious behavior, Attention ...	OMIM:617044
Autosomal Recessive Stickler Syndrome	Epiphyseal dysplasia, Cataract, Micrognathia, Genu valgum, Astigmatism, Abnormal epiphysis morpho...	ORPHA:250984
White-Sutton Syndrome	Waddling gait, Hyperactivity, Posteriorly rotated ears, Short stature, Aggressive behavior, Senso...	OMIM:616364
Centrifugal Lipodystrophy	Alopecia, Inflammatory abnormality of the skin, Lymphadenitis, Erythema, Scaling skin	ORPHA:90156
Hatipoglu Immunodeficiency Syndrome	Anhidrosis, Failure to thrive, Eczema, Proportionate short stature, Hyperpigmented/hypopigmented ...	OMIM:620331
Waardenburg-Shah Syndrome	Abnormal eyebrow morphology, Hypopigmentation of hair, White eyelashes, White eyebrow, Abnormalit...	ORPHA:897
Juvenile Dermatomyositis	Calcinosis, Myositis, Pericarditis, Skin rash, Alopecia, Elevated circulating creatine kinase con...	ORPHA:93672
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type	Pes planus, Sandal gap, Hypospadias, Tremor, Cryptorchidism, Small hand, Gait ataxia, Short foot,...	OMIM:300354
Hyperaldosteronism, Familial, Type Iii	Adrenal hyperplasia, Hyperaldosteronism, Decreased circulating renin level	OMIM:613677
Spondyloepimetaphyseal Dysplasia, Missouri Type	Radial bowing, Rhizomelia, Ulnar bowing, Flared metaphysis, Coxa vara, Tibial bowing, Femoral bow...	OMIM:602111
Omodysplasia 1	Short humerus, Rhizomelia, Increased fibular diameter, Micrognathia, Limited knee flexion, Crypto...	OMIM:258315
Johanson-Blizzard Syndrome	Alopecia, Short stature, Abnormal hair pattern, Sensorineural hearing impairment, Intrauterine gr...	ORPHA:2315
Fraser-Like Syndrome	Ovarian cyst, Contracture of the proximal interphalangeal joint of the 2nd finger, Overlapping toe	OMIM:229230
Ichthyosis, Congenital, Autosomal Recessive 5	Parakeratosis, Palmoplantar keratoderma, Erythroderma, Orthokeratosis, White scaling skin	OMIM:604777
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Alopecia, Parakeratosis, Sparse eyelashes, Thick hair, Pruritus, Sparse eyebrow, Orthokeratosis, ...	OMIM:607626
Kufor-Rakeb Syndrome	Torticollis, Ataxia, Parkinsonism, Tremor, Rigidity, Paraparesis, Babinski sign, Spastic parapleg...	OMIM:606693
Ablepharon Macrostomia Syndrome	Absent eyebrow, Corneal opacity, Redundant skin, Abnormal hair pattern, Absent eyelashes, Corneal...	ORPHA:920
Acromelic Frontonasal Dysostosis	Syndactyly, Cryptorchidism, Preaxial polydactyly, Preaxial foot polydactyly, Patellar hypoplasia,...	OMIM:603671
Aniridia 2	Aniridia, Iris coloboma, Cataract, Lens subluxation	OMIM:617141
Fibular Dimelia-Diplopodia Syndrome	Absent tibia	ORPHA:1757
Coats Disease	Aplasia/Hypoplasia of the iris, Cataract, Abnormal anterior chamber morphology	ORPHA:190
Bardet-Biedl Syndrome 9	Syndactyly, Renal insufficiency, Cataract, Postaxial polydactyly, Postaxial hand polydactyly, Pos...	OMIM:615986
Epidermolysis Bullosa Dystrophica, Autosomal Recessive	Alopecia, Cataract, Corneal scarring, Growth delay, Conjunctivitis, Nail dystrophy, Nail dysplasi...	OMIM:226600
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Pancreatic fibrosis, Preaxial hand polydactyly, Postaxial hand polydactyly, Disproportionate shor...	OMIM:263520
Autosomal Dominant Hypocalcemia	Alopecia, Abnormal fingernail morphology, Eczema, Writer's cramp, Hyperphosphatemia, Paresthesia,...	ORPHA:428
Cataract-Ataxia-Deafness Syndrome	Tremor, Hypertonia, Ataxia	ORPHA:1368
Familial Dysautonomia	Hyponatremia, Ataxia, Corneal opacity, Impaired pain sensation, Abnormal pupil morphology, Cornea...	ORPHA:1764
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy	Inability to walk, Myopic astigmatism, Long eyelashes, Bilateral conductive hearing impairment, L...	OMIM:617802
Ataxia With Vitamin E Deficiency	Diabetes mellitus, Ataxia, Tremor, Hemiplegia/hemiparesis, Abnormal pyramidal sign, Dysmetria, Dy...	ORPHA:96
Autosomal Dominant Hyper-Ige Syndrome	Osteomyelitis, Skin rash, Eczema, Pruritus, Abnormal hair morphology, Paronychia, Skin ulcer, Ski...	ORPHA:2314
Acute Radiation Syndrome	Inflammatory abnormality of the skin, Cataract, Vertigo, Skin ulcer, Hyperkeratosis, Interstitial...	ORPHA:454831
Hemochromatosis, Neonatal	Increased circulating ferritin concentration, Increased serum iron, Abnormality of iron homeostas...	OMIM:231100
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7	Restlessness, Aggressive behavior, Inappropriate behavior, Disinhibition, Gait disturbance, Dysto...	OMIM:600795
Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type	Subungual hyperkeratosis, Eczema, Trichorrhexis nodosa, Scarring alopecia of scalp, Hypoplastic s...	OMIM:617337
Corneal Dystrophy And Perceptive Deafness	Sensorineural hearing impairment, Corneal dystrophy, Opacification of the corneal stroma	OMIM:217400
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome	Cataract, Corneal opacity, Cryptorchidism, Gait ataxia, Delayed puberty, Spastic gait	ORPHA:496790
Hypophosphatemic Rickets, X-Linked Recessive	Renal insufficiency, Bulging epiphyses, Enlargement of the ankles, Bowing of the legs, Delayed ep...	OMIM:300554
Syndromic Diarrhea	Hypopigmentation of hair, Brittle hair, Gastritis, Small for gestational age, Short stature, Cafe...	ORPHA:84064
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant	Cryptorchidism, Corneal opacity, Developmental cataract	OMIM:618815
Progressive Supranuclear Palsy-Parkinsonism Syndrome	Tremor, Rigidity, Bradykinesia, Dystonia, Parkinsonism with favorable response to dopaminergic me...	ORPHA:240085
Zellweger Syndrome	Posterior embryotoxon, Cataract, Short stature, Corneal opacity, External ear malformation, Crypt...	ORPHA:912
Rothmund-Thomson Syndrome, Type 2	Absent eyebrow, Alopecia, Sparse scalp hair, Underfolded helix, Sparse eyelashes, Small for gesta...	OMIM:268400
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome	Hyponatremia, Alopecia, Psoriasiform dermatitis, Decreased circulating cortisol level, Decreased ...	ORPHA:293978
Aceruloplasminemia	Abnormality of retinal pigmentation, Torticollis, Decreased circulating ceruloplasmin concentrati...	ORPHA:48818
Immunodeficiency 85 And Autoimmunity	Failure to thrive in infancy, Eczema, Oligoarthritis, Growth delay, Erythroderma	OMIM:619510
Beta-Propeller Protein-Associated Neurodegeneration	Dystonia, Parkinsonism, Tremor, Rigidity, Bradykinesia, Spastic paraparesis	ORPHA:329284
Autoimmune Lymphoproliferative Syndrome, Type Iii	Alopecia, Elevated circulating C-reactive protein concentration, Arthritis, Membranous nephropath...	OMIM:615559
Bullous Diffuse Cutaneous Mastocytosis	Pruritus, Profuse pigmented skin lesions, Erythroderma	ORPHA:280785
Dermatoosteolysis, Kirghizian Type	Keratitis, Osteoarthritis, Skin ulcer, Dystrophic fingernails, Abnormality of the nail, Dystrophi...	ORPHA:1657
Alazami Syndrome	Abnormal eating behavior, Sparse eyebrow, Postnatal growth retardation, Low-set ears, Abnormal re...	ORPHA:319671
Ovarian Fibroma	Gonadal calcification, Ovarian fibroma, Abnormality of the ovary	ORPHA:314473
Ermine Phenotype	Hypopigmentation of hair, Short stature, Sensorineural hearing impairment, Ocular albinism, Hypop...	ORPHA:999
Acth-Independent Macronodular Adrenal Hyperplasia 2	Increased urinary cortisol level, Decreased circulating ACTH concentration, Macronodular adrenal ...	OMIM:615954
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities	Highly arched eyebrow, Aggressive behavior, Scissor gait, Dysmetria, Growth delay, Attention defi...	OMIM:619121
Dystonia 2, Torsion, Autosomal Recessive	Tremor, Torticollis, Blepharospasm, Torsion dystonia	OMIM:224500
Neuropathy, Hereditary Sensory And Autonomic, Type Viii	Impaired vibratory sensation, Pain insensitivity, Recurrent skin infections, Impaired temperature...	OMIM:616488
X-Linked Corneal Dermoid	Abnormal pupil morphology, Corneal opacity	ORPHA:1661
Aniridia-Intellectual Disability Syndrome	Aniridia, Cataract, Ectopia lentis	ORPHA:1068
Ichthyosis, X-Linked	Testicular neoplasm, Cryptorchidism, Hypohidrosis, Palmoplantar keratoderma, Opacification of the...	OMIM:308100
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism	Dystonia, Ataxia, Hypogonadotropic hypogonadism, Postural tremor, Tremor, Babinski sign, Dysmetri...	OMIM:607694
Developmental And Epileptic Encephalopathy 6B	Ataxia, Inability to walk, Chorea, Choreoathetosis, Dystonia, Abnormal repetitive mannerisms	OMIM:619317
Dent Disease	Enlarged epiphyses, Bowing of the legs, Delayed epiphyseal ossification, Nephrocalcinosis, Aminoa...	ORPHA:1652
Acrofacial Dysostosis, Rodríguez Type	Microretrognathia, Finger syndactyly, Hand oligodactyly, Fibular hypoplasia, Abnormal pelvic gird...	ORPHA:1788
Hemochromatosis, Type 3	Increased circulating ferritin concentration, Elevated transferrin saturation, Arthritis, Increas...	OMIM:604250
Agel Amyloidosis	Cataract, Ataxia, Pruritus, Xerostomia, Cutis laxa, Keratoconjunctivitis sicca, Corneal ulceratio...	ORPHA:85448
Keutel Syndrome	Alopecia, Short stature, Recurrent sinusitis, Recurrent otitis media, Hearing impairment	ORPHA:85202
Deaf Blind Hypopigmentation Syndrome, Yemenite Type	Hypopigmentation of hair, Sensorineural hearing impairment, Hypopigmented skin patches, Microcorn...	ORPHA:3214
Hyperphenylalaninemia, Bh4-Deficient, A	Ataxia, Parkinsonism, Tremor, Rigidity, Choreoathetosis, Bradykinesia, Hypertonia, Dystonia, Limb...	OMIM:261640
Inverted Duplicated Chromosome 15 Syndrome	Low-set, posteriorly rotated ears, Hyperactivity, Aggressive behavior, Cryptorchidism, Synophrys,...	ORPHA:3306
Autoimmune Polyendocrine Syndrome, Type Ii	Alopecia, Hyperthyroidism, Cataract, Band keratopathy, Primary adrenal insufficiency, Hepatitis, ...	OMIM:269200
Behavioral Variant Of Frontotemporal Dementia	Restrictive behavior, Collectionism, Restlessness, Aggressive behavior, Inappropriate behavior, D...	ORPHA:275864
Nail-Patella Syndrome	Glenoid fossa hypoplasia, Patellar hypoplasia, Microcornea, Hypoplasia of first ribs, Iliac horns...	OMIM:161200
H Syndrome	Hallux valgus, Pes planus, Abnormality of the kidney, Hepatosplenomegaly, Corneal arcus, Camptoda...	ORPHA:168569
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome	Dystonia, Parkinsonism, Tremor, Rigidity, Head titubation, Gait ataxia, Choreoathetosis, Bradykin...	OMIM:618877
Developmental And Epileptic Encephalopathy 66	Broad-based gait, Cryptorchidism, Synophrys, Astigmatism, Abnormal repetitive mannerisms	OMIM:618067
Mandibulofacial Dysostosis With Alopecia	Alopecia, Sparse eyelashes, Cupped ear, Protruding ear, Microtia, Low-set ears, Conductive hearin...	OMIM:616367
Developmental And Epileptic Encephalopathy 32	Tremor, Ataxia, Myoclonus	OMIM:616366
Obesity And Hypopigmentation	Red hair, Polyphagia, Obesity	OMIM:620195
Ectopia Lentis Et Pupillae	Cataract, Ectopia lentis, Iris transillumination defect, Ectopia pupillae, Persistent pupillary m...	OMIM:225200
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly	Pain insensitivity, Highly arched eyebrow, Aggressive behavior, Attention deficit hyperactivity d...	OMIM:618825
Kdm5C-Related Syndromic X-Linked Intellectual Disability	Short stature, Aggressive behavior, Cryptorchidism, Protruding ear, Patchy alopecia, Multiple caf...	ORPHA:85279
Schimmelpenning-Feuerstein-Mims Syndrome	Alopecia, Short stature, Corneal opacity, Growth delay, Hypophosphatemic rickets, Hypopigmentatio...	OMIM:163200
Orofaciodigital Syndrome Type 2	Finger syndactyly, Broad hallux, Micrognathia, Short tibia, Adactyly, Broad first metatarsal, Pos...	ORPHA:2751
Peters Anomaly	Central opacification of the cornea, Developmental glaucoma, Anterior synechiae of the anterior c...	ORPHA:708
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies	Posteriorly rotated ears, Short stature, Corneal dystrophy, Patchy alopecia, Low-set ears, Sparse...	OMIM:617763
Lowry-Maclean Syndrome	Corneal opacity, Bilateral cryptorchidism, Developmental glaucoma, Growth delay, Low-set ears, Ge...	ORPHA:2409
Beta-Thalassemia	Hepatitis, Skin ulcer, Pallor, Abnormality of iron homeostasis, Cholelithiasis	ORPHA:848
Anemia, Sideroblastic, 2, Pyridoxine-Refractory	Increased circulating ferritin concentration, Elevated transferrin saturation	OMIM:205950
Limb-Mammary Syndrome	Alopecia, Psoriasiform dermatitis, Chronic irritative conjunctivitis, Absent nipple, Sparse eyebr...	ORPHA:69085
Intellectual Developmental Disorder, X-Linked 98	Hyperactivity, Failure to thrive, Ataxia, Aggressive behavior, Postnatal growth retardation, Buli...	OMIM:300912
Brittle Cornea Syndrome 2	Keratoconus, Flat cornea, Sclerocornea, Keratoglobus, Gait disturbance, Decreased corneal thickne...	OMIM:614170
2Q37 Microdeletion Syndrome	Sparse scalp hair, Short stature, Eczema, Supernumerary nipple, Highly arched eyebrow, Sparse eye...	ORPHA:1001
Bartsocas-Papas Syndrome	Corneal opacity, Alopecia totalis, Hypoplastic toenails, Sparse or absent eyelashes, Popliteal pt...	ORPHA:1234
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1	Redundant skin, Seborrheic dermatitis, Erythema, Palmoplantar hyperkeratosis, Hyperhidrosis, Arth...	OMIM:259100
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom	Eczema, Highly arched eyebrow, Congenital sensorineural hearing impairment, Sensorineural hearing...	ORPHA:500159
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1	Incoordination, Tremor, Paraparesis, Achilles tendon contracture, Babinski sign, Dysmetria, Hand ...	OMIM:302800
Osteoporosis-Pseudoglioma Syndrome	Loss of ambulation, Short stature, Waddling gait, Corneal opacity	ORPHA:2788
Vitamin D-Dependent Rickets, Type 2A	Growth delay, Alopecia universalis, Secondary hyperparathyroidism, Hypophosphatemia, Difficulty w...	OMIM:277440
Autoimmune Polyendocrinopathy Type 2	Hypoparathyroidism, Alopecia, Primary adrenal insufficiency, Hypopigmented skin patches, Graves d...	ORPHA:3143
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type	Decreased body weight, Pain insensitivity, Ataxia, Cryptorchidism, Repetitive compulsive behavior...	OMIM:300260
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome	Absent eyebrow, Alopecia, Sparse scalp hair, Sparse eyelashes, Aggressive behavior, Bilateral cry...	ORPHA:544488
Paternal Uniparental Disomy Of Chromosome 1	Membranoproliferative glomerulonephritis, Proteinuria, Enlarged kidney, Macroscopic hematuria	ORPHA:251004
Parkinson Disease 14, Autosomal Recessive	Eyelid apraxia, Axial dystonia, Resting tremor, Parkinsonism, Upper limb postural tremor, Tremor,...	OMIM:612953
Acrocephalopolydactylous Dysplasia	Hepatomegaly, Micromelia, Postaxial hand polydactyly, Cystic renal dysplasia, Enlarged kidney	OMIM:200995
Hypermanganesemia With Dystonia 2	Generalized dystonia, Dystonia, Parkinsonism, Tremor, Achilles tendon contracture, Babinski sign,...	OMIM:617013
Microphthalmia With Limb Anomalies	Toe syndactyly, Unilateral cryptorchidism, Sandal gap, Capitate-hamate fusion, 2-3 toe cutaneous ...	OMIM:206920
Wagro Syndrome	Cataract, Corneal opacity, Aggressive behavior, Obesity, Agitation, Compulsive behaviors, Low-set...	OMIM:612469
Hypocalcemic Vitamin D-Resistant Rickets	Alopecia, Hyperparathyroidism, Short stature, Gait disturbance, Hypocalcemia, Hypophosphatemia	ORPHA:93160
Abnormal Hair, Joint Laxity, And Developmental Delay	Alopecia, Impulsivity, Aggressive behavior, Fragile nails, Small nail, Recurrent otitis media, Pi...	OMIM:261990
Satoyoshi Syndrome	Alopecia, Short stature, Mildly elevated creatine kinase, Alopecia universalis	OMIM:600705
Distal Xq28 Microduplication Syndrome	Short stature, Impulsivity, Aggressive behavior, Self-biting, Microtia, Stereotypical body rockin...	ORPHA:293939
Autosomal Recessive Cerebelloparenchymal Disorder Type 3	Pes planus, Ataxia, Poor motor coordination, Tremor, Dysmetria, Gait ataxia, Oculomotor apraxia, ...	ORPHA:1170
Reynolds Syndrome	Skin rash, Pruritus, Xerostomia, Skin ulcer, Arthritis, Keratoconjunctivitis sicca, Dysphagia, Ir...	ORPHA:779
Oculomaxillofacial Dysostosis	Short stature, Corneal opacity, Abnormal eyelash morphology, Sparse or absent eyelashes, Aplasia/...	ORPHA:1794
Intellectual Developmental Disorder, Autosomal Dominant 54	Anhidrosis, Small for gestational age, Eczema, Thin nail, Aggressive behavior, Short stature, Ata...	OMIM:617799
Brain Dopamine-Serotonin Vesicular Transport Disease	Dystonia, Ataxia, Parkinsonism, Abnormality of coordination, Spastic tetraparesis, Tremor, Oculog...	ORPHA:352649
Syngap1-Related Developmental And Epileptic Encephalopathy	Ataxia, Abnormal eating behavior, Anteverted ears, Tremor, Macrotia, Obsessive-compulsive trait, ...	ORPHA:544254
Pilarowski-Bjornsson Syndrome	Postnatal growth retardation, Long eyelashes, Abnormal repetitive mannerisms, Broad eyebrow, Derm...	OMIM:617682
Intellectual Developmental Disorder, Autosomal Dominant 45	Hyperactivity, Skin rash, Slender build, Chorea, Attention deficit hyperactivity disorder, Recurr...	OMIM:617600
Intellectual Disability-Autism-Speech Apraxia-Craniofacial Dysmorphism Syndrome	Postnatal growth retardation, Abnormal repetitive mannerisms, Thick eyebrow, Dermal translucency	ORPHA:529965
Fish-Eye Disease	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased VLDL cholesterol concent...	OMIM:136120
Intellectual Developmental Disorder With Autism And Dysmorphic Facies	Astigmatism, Attention deficit hyperactivity disorder, Compulsive behaviors, Low-set ears, Recurr...	OMIM:620021
Wilson Disease	Aggressive behavior, Pruritus, Hypersexuality, Hepatitis, Increased body weight, Weight loss, Art...	ORPHA:905
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency	Acute hyperammonemia, Ataxia, Hyperglutaminemia, Hyperammonemia, Agitation, Hyperalaninemia, Fail...	ORPHA:927
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia	Incoordination, Ataxia, Tremor, Cryptorchidism, Abnormal pyramidal sign, Eyelid myoclonus, Oculom...	OMIM:618060
Atypical Progressive Supranuclear Palsy Syndrome	Speech apraxia, Extrapyramidal muscular rigidity, Parkinsonism, Tremor, Rigidity, Abnormal pyrami...	ORPHA:99750
Ichthyosis, Congenital, Autosomal Recessive 7	Palmoplantar keratoderma, Erythroderma	OMIM:615022
Infantile Myofibromatosis	Neoplasm of the pancreas, Hypercalcemia, Abnormal hair morphology, Skin ulcer, Irregular hyperpig...	ORPHA:2591
Autosomal Dominant Keratitis	Cataract, Keratitis, Abnormal corneal limbus morphology, Microcornea, Hypoplastic iris stroma, Op...	ORPHA:2334
Gapo Syndrome	Keratoconus, Alopecia, Sparse eyelashes, Redundant skin, Sparse eyebrow, Protruding ear, Growth d...	OMIM:230740
Rothmund-Thomson Syndrome	Calcinosis, Plantar hyperkeratosis, Juvenile cataract, Skin rash, Sparse eyelashes, Alopecia tota...	ORPHA:2909
Hemochromatosis, Type 5	Increased circulating ferritin concentration, Elevated transferrin saturation, Abnormal circulati...	OMIM:615517
Lymphoid Interstitial Pneumonia	Hepatomegaly, Keratoconjunctivitis sicca, Clubbing, Enlarged kidney	ORPHA:79128
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency	Cerebral palsy, Oculogyric crisis, Tremor, Rigidity, Bradykinesia, Dystonia, Limb hypertonia	ORPHA:70594
Cataract 3, Multiple Types	Nuclear pulverulent cataract, Sutural cataract, Cerulean cataract, Developmental cataract	OMIM:601547
Acro-Renal-Ocular Syndrome	Microcornea, Triphalangeal thumb, Vesicoureteral reflux, Iris coloboma, Hypoplasia of the ulna, F...	ORPHA:959
Rothmund-Thomson Syndrome Type 1	Calcinosis, Hypopigmentation of the skin, Plantar hyperkeratosis, Small for gestational age, Alop...	ORPHA:221008
Leukodystrophy, Hypomyelinating, 11	Tremor, Spasticity, Ataxia, Myoclonus	OMIM:616494
Osteofibrous Dysplasia, Susceptibility To	Pseudoarthrosis, Fibular hypoplasia	OMIM:607278
Neonatal Hemochromatosis	Increased circulating ferritin concentration, Increased serum iron	ORPHA:446
Tbck-Related Intellectual Disability Syndrome	Thick eyebrow, Hyperthyroidism, Corneal opacity, Eczema, Decreased response to growth hormone sti...	ORPHA:488632
Intellectual Developmental Disorder, Autosomal Dominant 51	Failure to thrive, Unilateral cryptorchidism, Aggressive behavior, Cryptorchidism, Fixated intere...	OMIM:617788
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15	Hypopigmentation of hair, Broad-based gait, Tongue thrusting, Gait imbalance, Dysphagia, Hypopigm...	ORPHA:98795
Leukodystrophy, Hypomyelinating, 6	Ataxia, Tremor, Rigidity, Choreoathetosis, Dystonia, Oculomotor apraxia, Spasticity	OMIM:612438
Mucolipidosis Type Iv	Abnormality of retinal pigmentation, Ataxia, Corneal opacity, Palmoplantar keratoderma, Gait dist...	ORPHA:578
Combined Immunodeficiency Due To Dock8 Deficiency	Recurrent bacterial skin infections, Pneumonia, Atopic dermatitis, Skin ulcer, Recurrent sinusiti...	ORPHA:217390
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne	Acne, Elevated circulating C-reactive protein concentration, Pyoderma gangrenosum, Sterile arthri...	OMIM:604416
Hemihyperplasia-Multiple Lipomatosis Syndrome	Macrodactyly, 2-4 toe syndactyly, Foot polydactyly, Nephroblastoma, Enlarged kidney	ORPHA:276280
Gorlin-Chaudhry-Moss Syndrome	Short stature, Sclerocornea, Low anterior hairline, Coarse hair, Astigmatism, Conductive hearing ...	ORPHA:2095
Denys-Drash Syndrome	Diffuse mesangial sclerosis, Stage 5 chronic kidney disease, Nephrotic syndrome, Focal segmental ...	OMIM:194080
Alg9-Cdg	Microretrognathia, Hypoplasia of the bladder, Hepatomegaly, Ulnar deviation of the hand, Rhizomel...	ORPHA:79328
Hyperkeratosis Lenticularis Perstans	Pruritus, Hyperkeratosis lenticularis perstans, Skin ulcer	ORPHA:409
Generalized Glucocorticoid Resistance Syndrome	Increased urinary cortisol level, Adrenal hyperplasia, Precocious puberty, Increased circulating ...	ORPHA:786
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	External genital hypoplasia, Micrognathia, Tibial bowing, Hypoplastic iliac wing, Small proximal ...	ORPHA:96334
Hoyeraal-Hreidarsson Syndrome	Sparse scalp hair, Generalized hyperpigmentation, Short stature, Ataxia, Premature graying of hai...	ORPHA:3322
Oculocerebrorenal Syndrome Of Lowe	Hyperparathyroidism, Hypoammonemia, Abnormal pupil morphology, Protruding ear, Lentiglobus, Perio...	ORPHA:534
Angelman Syndrome	Keratoconus, Hypopigmentation of the skin, Hyperactivity, Fair hair, Ataxia, Broad-based gait, Ag...	ORPHA:72
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia	Aplasia/Hypoplasia of the thumb, Short humerus, Absent radius, Ulnar bowing, Split hand, Mesomeli...	OMIM:171480
Cerebral Arteriopathy, Autosomal Recessive, With Subcortical Infarcts And Leukoencephalopathy	Alopecia, Ataxia, Gait apraxia, Dysmetria, Gait disturbance	OMIM:600142
Diffuse Cutaneous Mastocytosis	Pruritus, Scaling skin, Mixed hypo- and hyperpigmentation of the skin, Erythroderma	ORPHA:79456
Biotinidase Deficiency	Alopecia, Skin rash, Ataxia, Sensorineural hearing impairment, Hyperammonemia, Conjunctivitis, Ec...	ORPHA:79241
Bare Lymphocyte Syndrome, Type I	Ectopia lentis, Bronchiectasis, Skin ulcer, Chronic otitis media, Chronic sinusitis	OMIM:604571
Developmental And Epileptic Encephalopathy 30	Abnormal repetitive mannerisms	OMIM:616341
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome	Hyperactivity, Short stature, Aggressive behavior, Synophrys, Macrotia, Abnormal repetitive manne...	ORPHA:391307
Immunodeficiency, Common Variable, 10	Trachyonychia, Psoriasiform dermatitis, Decreased response to growth hormone stimulation test, Al...	OMIM:615577
Leishmaniasis	Anorexia, Skin ulcer, Weight loss, Rhinitis, Hypoalbuminemia, Pallor	ORPHA:507
Trichothiodystrophy 3, Photosensitive	Brittle hair, Short stature, Cataract, Bilateral cryptorchidism, Developmental cataract, Low-set ...	OMIM:616395
Hyperphenylalaninemia, Bh4-Deficient, B	Tremor, Rigidity, Choreoathetosis, Hyperkinetic movements, Dystonia, Limb hypertonia	OMIM:233910
Schimke Immuno-Osseous Dysplasia	Small for gestational age, Abnormality of thyroid physiology, Short stature, Minimal change glome...	ORPHA:1830
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1	Microcornea, Cataract	OMIM:619082
Weill-Marchesani Syndrome	Short thumb, Brachydactyly, Cataract, Ectopia lentis	ORPHA:3449
Phelan-Mcdermid Syndrome	Broad-based gait, Aggressive behavior, Hypoplastic toenails, Toenail dysplasia, Impaired pain sen...	OMIM:606232
Dahlberg-Borer-Newcomer Syndrome	Hypoparathyroidism, Cataract, Short stature, Hypohidrosis, Hypocalcemia, Anonychia, Hypothyroidis...	ORPHA:1563
Chronic Mucocutaneous Candidiasis	Skin rash, Abnormal fingernail morphology, Pruritus, Erythema, Cheilitis, Hepatitis, Skin ulcer, ...	ORPHA:1334
Dominant Beta-Thalassemia	Hypoparathyroidism, Failure to thrive in infancy, Skin ulcer, Chronic hepatitis, Growth delay, Ad...	ORPHA:231226
Den Hoed-De Boer-Voisin Syndrome	Thick eyebrow, Posteriorly rotated ears, Ataxia, Overweight, Tremor, Widow's peak, Inability to w...	OMIM:619229
Alpha-Mannosidosis, Adult Form	Mixed hearing impairment, Cataract, Ataxia, Pneumonia, Corneal opacity	ORPHA:309288
Anterior Segment Dysgenesis 2	Cataract, Corneal opacity, Sclerocornea, Microcornea, Posterior synechiae of the anterior chamber...	OMIM:610256
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome	Absent eyebrow, Alopecia, Membranoproliferative glomerulonephritis, Sparse eyelashes, Sparse scal...	OMIM:137940
Glycogen Storage Disease Ia	Hepatomegaly, Proteinuria, Nephrolithiasis, Focal segmental glomerulosclerosis, Enlarged kidney, ...	OMIM:232200
Juvenile Neuronal Ceroid Lipofuscinosis	Hyperhidrosis, Pigmentary retinopathy, Aspiration pneumonia, Dysphagia, Loss of ambulation, Abnor...	ORPHA:79264
Bainbridge-Ropers Syndrome	Failure to thrive, Posteriorly rotated ears, Highly arched eyebrow, Supernumerary nipple, Cryptor...	OMIM:615485
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease	Alopecia, Striae distensae, Acne, Pituitary adenoma, Primary hyperparathyroidism, Hyperlipidemia,...	ORPHA:189427
Cystathioninuria	Tremor, Talipes equinovarus	ORPHA:212
Dyrk1A-Related Intellectual Disability Syndrome	Hyperactivity, Failure to thrive, Small for gestational age, Eczema, Anterior pituitary hypoplasi...	ORPHA:464306
Hydrolethalus Syndrome 1	Accessory spleen, Hypospadias, Micrognathia, Bifid uterus, Preaxial hand polydactyly, Postaxial h...	OMIM:236680
Macs Syndrome	Alopecia, Short stature, Redundant skin, Sparse eyebrow, Cryptorchidism, Bronchiectasis, Cutis la...	OMIM:613075
Pgm3-Cdg	Mild neurosensory hearing impairment, Membranoproliferative glomerulonephritis, Osteomyelitis, Ec...	ORPHA:443811
Gyrate Atrophy Of Choroid And Retina	Cataract, Abnormal hair morphology, Hyperornithinemia, Subcapsular cataract, Hearing impairment	ORPHA:414
Cochleosaccular Degeneration-Cataract Syndrome	Progressive sensorineural hearing impairment, Cataract, Ataxia, Cochlear degeneration	ORPHA:3233
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities	Hyperactivity, Posteriorly rotated ears, Ataxia, Aggressive behavior, Obesity, Compulsive behavio...	OMIM:618430
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism	Hypogonadotropic hypogonadism, Ataxia, Tremor, Abnormal pyramidal sign, Hip dislocation, Dysmetri...	OMIM:614381
Mixed Connective Tissue Disease	Myositis, Pericarditis, Skin rash, Gastritis, Alopecia, Myocarditis, Xerostomia, Arthritis, Kerat...	ORPHA:809
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures	Ataxia, Impulsivity, Aggressive behavior, Inability to walk, Tongue thrusting, Gait ataxia, Chore...	OMIM:619580
Mucopolysaccharidosis, Type Vii	Thick eyebrow, Severe short stature, Short stature, Corneal opacity, Postnatal growth retardation...	OMIM:253220
Congenital Disorder Of Deglycosylation 1	Restlessness, Anhidrosis, Pain insensitivity, Corneal opacity, Elevated circulating alpha-fetopro...	OMIM:615273
Hemochromatosis, Type 1	Alopecia, Increased circulating ferritin concentration, Increased serum iron, Testicular atrophy,...	OMIM:235200
Gapo Syndrome	Keratoconus, Alopecia, Sparse eyelashes, Short stature, Sparse eyebrow, Early balding, Hypopigmen...	ORPHA:2067
Gm1-Gangliosidosis, Type Iii	Opacification of the corneal stroma, Short stature, Ataxia, Dystonia	OMIM:230650
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2	Hyperhidrosis, Acne, Hypoalbuminemia, Seborrheic dermatitis	OMIM:614441
Griscelli Syndrome Type 2	Hypopigmentation of hair, Partial albinism, Hyperlipidemia, Premature graying of hair, Petechiae,...	ORPHA:79477
Coffin-Siris Syndrome 6	Posteriorly rotated ears, Short stature, Tics, Low-set ears, Attention deficit hyperactivity diso...	OMIM:617808
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures	Hyperactivity, Aggressive behavior, Attention deficit hyperactivity disorder, Mild short stature,...	OMIM:620292
Ane Syndrome	Alopecia, Short stature, Anterior pituitary hypoplasia, Decreased response to growth hormone stim...	ORPHA:157954
Systemic Sclerosis	Pericarditis, Osteomyelitis, Recurrent skin infections, Glomerulonephritis, Alopecia, Elevated ci...	ORPHA:90291
Renal-Hepatic-Pancreatic Dysplasia 1	Hepatomegaly, Renal insufficiency, Splenomegaly, Stage 5 chronic kidney disease, Ureteral atresia...	OMIM:208540
Cockayne Syndrome B	Dry hair, Tremor, Abnormality of skin pigmentation, Microcornea, Hypoplasia of the iris, Sparse h...	OMIM:133540
Rett Syndrome	Increased serum pyruvate, Inability to walk, Hyperammonemia, Agitation, Cholecystitis, Gait distu...	ORPHA:778
Osteosclerosis With Ichthyosis And Fractures	Femoral bowing, Cortical thickening of long bone diaphyses, Tibial bowing	OMIM:166740
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair	Decreased circulating cortisol level, Decreased response to growth hormone stimulation test, Adre...	OMIM:609734
Behr Syndrome	Ataxia, Tremor, Achilles tendon contracture, Babinski sign, Dysmetria, Progressive spasticity, Tr...	OMIM:210000
Mucopolysaccharidosis Type 1	Sinusitis, Short stature, Corneal opacity, Sensorineural hearing impairment, Low anterior hairlin...	ORPHA:579
Dystonia-Deafness Syndrome 1	Generalized dystonia, Small for gestational age, Oculogyric crisis, Cataract, Sensorineural heari...	OMIM:607371
Autism, Susceptibility To, X-Linked 2	Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines	OMIM:300495
Glycogen Storage Disease Ib	Hepatomegaly, Proteinuria, Splenomegaly, Nephrolithiasis, Focal segmental glomerulosclerosis, Enl...	OMIM:232220
Amoebic Keratitis	Iris atrophy, Cataract, Abnormal corneal epithelium morphology, Abnormal anterior chamber morphol...	ORPHA:67043
21Q22.11Q22.12 Microdeletion Syndrome	Hyperactivity, Failure to thrive in infancy, Short stature, Postnatal growth retardation, Tongue ...	ORPHA:261323
Wiedemann-Steiner Syndrome	Hyperactivity, Short stature, Decreased response to growth hormone stimulation test, Rhizomelia, ...	ORPHA:319182
Multicentric Carpotarsal Osteolysis Syndrome	Inability to walk, Corneal opacity	OMIM:166300
Cutis Laxa, Autosomal Recessive, Type Iiib	Cataract, Posteriorly rotated ears, Prominent ear helix, Cryptorchidism, Developmental glaucoma, ...	OMIM:614438
Dystonia 1, Torsion, Autosomal Dominant	Torticollis, Generalized dystonia, Writer's cramp, Tremor, Babinski sign, Torsion dystonia, Absen...	OMIM:128100
Cataract 5, Multiple Types	Pulverulent cataract, Nuclear cataract, Lamellar cataract, Anterior polar cataract, Zonular cataract	OMIM:116800
Agammaglobulinemia 9, Autosomal Recessive	Failure to thrive, Sensorineural hearing impairment, Eczematoid dermatitis, Seborrheic dermatitis	OMIM:619693
Primary Unilateral Adrenal Hyperplasia	Glucocortocoid-insensitive primary hyperaldosteronism, Adrenal hyperplasia, Decreased circulating...	ORPHA:231580
Müllerian Aplasia And Hyperandrogenism	Hypoplasia of the uterus, Increased serum testosterone level, Abnormal vagina morphology, Abnorma...	ORPHA:247768
Ifap Syndrome 2	Cataract, Angular cheilitis, Keratitis, Posterior blepharitis, Keratoconjunctivitis sicca, Nail d...	OMIM:619016
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome	Alopecia, Cryptorchidism, Fine hair, Low-set ears, Intrauterine growth retardation	ORPHA:228390
48,Xxyy Syndrome	Ataxia, Tremor, Cryptorchidism, Obesity, Attention deficit hyperactivity disorder, Chronic otitis...	ORPHA:10
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia	Hypogonadotropic hypogonadism, Decreased circulating dihydrotestosterone concentration, Decreased...	OMIM:228300
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion	Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Impaired te...	ORPHA:98793
Scalp-Ear-Nipple Syndrome	Underdeveloped antitragus, Anteverted ears, Protruding ear, Anisocoria, Sparse hair, Small earlob...	OMIM:181270
Relapsing Polychondritis	Episcleritis, Pericarditis, Alopecia, Cataract, Chondritis of pinna, Keratitis, Myocarditis, Sens...	ORPHA:728
Brachyolmia Type 1, Toledo Type	Childhood-onset short-trunk short stature, Gait disturbance, Disproportionate short-trunk short s...	OMIM:271630
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features	Hyperactivity, Broad-based gait, Ataxia, Highly arched eyebrow, Tongue thrusting, Pica, Unsteady ...	OMIM:617865
Hemochromatosis, Type 2B	Increased circulating ferritin concentration, Elevated transferrin saturation, Increased serum ir...	OMIM:613313
Brittle Cornea Syndrome	Corneal dystrophy, Sensorineural hearing impairment, Corneal erosion, Abnormality of hair pigment...	ORPHA:90354
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2	Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Impaired te...	ORPHA:177904
Sympathetic Ophthalmia	Alopecia, Cataract, Poliosis, Erythema, Anterior chamber cells, Posterior synechiae of the anteri...	ORPHA:79098
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome	Absent eyebrow, Alopecia, Short stature, Absent eyelashes, Cryptorchidism, Cafe-au-lait spot, Low...	ORPHA:166035
Hypophosphatemic Rickets, X-Linked Dominant	Shortening of the talar neck, Bowing of the legs, Trapezoidal distal femoral condyles, Femoral bo...	OMIM:307800
Thrombocytopenia-Absent Radius Syndrome	Ureteral duplication, Edema of the dorsum of feet, Micrognathia, Femoral bowing, Abnormal shoulde...	OMIM:274000
Corneal Dystrophy, Reis-Bucklers Type	Corneal erosion, Corneal opacity, Corneal dystrophy, Opacification of the corneal stroma	OMIM:608470
Short Stature, Microcephaly, And Endocrine Dysfunction	Broad-based gait, Cataract, Short stature, Ataxia, Cryptorchidism, Sensorineural hearing impairme...	OMIM:616541
Congenital Hereditary Endothelial Dystrophy Type Ii	Increased corneal thickness, Corneal opacity, Abnormal Descemet membrane morphology, Sensorineura...	ORPHA:293603
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1	Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Impaired te...	ORPHA:177901
Helsmoortel-Van Der Aa Syndrome	Pes planus, Recurrent urinary tract infections, Sandal gap, Broad hallux, Tapered finger, Small h...	OMIM:615873
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15	Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Impaired te...	ORPHA:98754
Livedoid Vasculopathy	Superficial dermal perivascular inflammatory infiltrate, Recurrent skin infections, Hyperpigmente...	ORPHA:542643
Bleeding Disorder, Platelet-Type, 21	Alopecia, Psoriasiform dermatitis, Eczema	OMIM:617443
Monosomy 22	Low-set, posteriorly rotated ears, Aplasia of the thymus, Seborrheic dermatitis, Synophrys, Hyper...	ORPHA:96123
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate	Sparse eyelashes, Hyperconvex nail, Supernumerary nipple, Absent eyelashes, Patchy alopecia, Conj...	OMIM:106260
Symptomatic Form Of Hfe-Related Hemochromatosis	Increased circulating ferritin concentration, Elevated transferrin saturation, Hypothyroidism, We...	ORPHA:465508
Neuropathy, Hereditary Sensory And Autonomic, Type V	Impaired vibratory sensation, Anhidrosis, Pain insensitivity, Osteomyelitis, Impaired temperature...	OMIM:608654
Aniridia-Absent Patella Syndrome	Aniridia, Cataract, Aplasia/Hypoplasia of the patella	ORPHA:1069
Atopic Keratoconjunctivitis	Corneal opacity, Keratitis, Loss of eyelashes, Keratoconjunctivitis sicca, Chemosis, Dry skin, Bl...	ORPHA:163934
Neurodevelopmental Disorder With Hypotonia, Impaired Language, And Dysmorphic Features	Supernumerary nipple, Impaired pain sensation, Gait ataxia, Low-set ears, Abnormal repetitive man...	OMIM:616579
22Q11.2 Deletion Syndrome	Hypoplasia of the thymus, Hypocalcemia, Conductive hearing impairment, Chronic otitis media, Smal...	ORPHA:567
Cervical Hypertrichosis-Peripheral Neuropathy Syndrome	Osteomyelitis, Generalized hirsutism, Skin ulcer	ORPHA:2218
Papa Syndrome	Increased inflammatory response, Myositis, Acne, Pustule, Skin ulcer, Arthritis, Crohn's disease	ORPHA:69126
Spinocerebellar Ataxia 42	Spastic ataxia, Ataxia, Tremor, Babinski sign, Abnormal pyramidal sign, Spastic gait	OMIM:616795
Proximal Myotonic Myopathy	Cataract	ORPHA:606
8Q21.11 Microdeletion Syndrome	Cataract, Corneal opacity, Eczema, Hearing impairment, Sclerocornea, Cryptorchidism, Low-set ears...	ORPHA:284160
Spinocerebellar Ataxia 8	Incoordination, Tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia, Spasticity	OMIM:608768
Idiopathic Hypereosinophilic Syndrome	Inflammatory abnormality of the skin, Somatic sensory dysfunction, Eczema, Cholangitis, Pruritus,...	ORPHA:3260
Ermine Phenotype	White eyelashes, White eyebrow, Albinism, Sensorineural hearing impairment, White hair, Spotty hy...	OMIM:227010
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome	Dystonia, Ataxia, Elevated circulating creatine kinase concentration, Sparse eyebrow, Recurrent p...	ORPHA:496641
Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter	Broad-based gait, Gait ataxia, Prominent antihelix, Difficulty walking, Dystonia, Abnormal repeti...	OMIM:617807
Cenani-Lenz Syndrome	Hypoplasia of the ulna, Finger syndactyly, Cataract, Toe syndactyly, Micromelia, Renal hypoplasia...	ORPHA:3258
Bardet-Biedl Syndrome 1	Syndactyly, Diabetes mellitus, Ataxia, Postaxial polydactyly, Nephrogenic diabetes insipidus, Pos...	OMIM:209900
Bilateral Generalized Polymicrogyria	Short stature, Oculogyric crisis, Oral-pharyngeal dysphagia, Growth delay, Self-injurious behavio...	ORPHA:208447
Acquired Hypertrichosis Lanuginosa	Abnormal eyebrow morphology, Hypopigmentation of hair, Ovarian neoplasm, Fine hair, Weight loss, ...	ORPHA:2221
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects	Alopecia, Parakeratosis, Short stature, Elevated 8-dehydrocholesterol, Elevated 8(9)-cholestenol,...	OMIM:308050
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome	Lower limb spasticity, Resting tremor, Parkinsonism, Tremor, Macroorchidism	ORPHA:3077
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Impaired Intellectual Development	Cataract, Band keratopathy, Impaired renal tubular reabsorption of bicarbonate, Bicarbonate-wasti...	OMIM:604278
Kniest Dysplasia	Hip contracture, Cataract, Rhizomelia, Dumbbell-shaped long bone, Delayed epiphyseal ossification...	OMIM:156550
Spinocerebellar Ataxia Type 27	Tremor, Hand tremor, Limb ataxia, Gait ataxia, Truncal ataxia, Pes cavus	ORPHA:98764
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome	Hypoplastic fifth toenail, Ataxia, Supernumerary nipple, Aggressive behavior, Unsteady gait, Asti...	ORPHA:457279
Mandibuloacral Dysplasia	Alopecia, Hypertriglyceridemia, Increased circulating free fatty acid level, Postnatal growth ret...	ORPHA:2457
Piebald Trait With Neurologic Defects	White forelock, Absent pigmentation of the ventral chest, Ataxia, Hearing impairment	OMIM:172850
Fusariosis	Fasciitis, Sinusitis, Maculopapular exanthema, Myositis, Pneumonia, Osteomyelitis, Keratitis, Per...	ORPHA:228119
Hemochromatosis, Type 2A	Arthritis, Increased serum iron, Increased circulating ferritin concentration, Hyperpigmentation ...	OMIM:602390
7Q11.23 Microduplication Syndrome	Dysmetria, Chronic otitis media, Abnormal repetitive mannerisms, Low-set, posteriorly rotated ear...	ORPHA:96121
Intellectual Developmental Disorder, Autosomal Recessive 38	Hyperactivity, Aggressive behavior, Unsteady gait, Blue irides, Recurrent hand flapping, Self-mut...	OMIM:615516
Saul-Wilson Syndrome	Enlarged epiphyses, Short metacarpal, Cataract, Pseudoepiphyses of the metacarpals, Micrognathia,...	OMIM:618150
Acro-Renal-Mandibular Syndrome	Hypoplasia of the ulna, Finger syndactyly, Hypoplastic scapulae, Micrognathia, Split hand, Hypopl...	ORPHA:958
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome	Hypercalcemia, Aggressive behavior, Tremor, Synophrys, Gait ataxia, Compulsive behaviors, Attenti...	ORPHA:476126
Snijders Blok-Campeau Syndrome	Broad-based gait, Unsteady gait, Astigmatism, Attention deficit hyperactivity disorder, Low-set e...	OMIM:618205
Pitt-Hopkins Syndrome	Hyperconvex nail, Supernumerary nipple, Cryptorchidism, Cupped ear, Gait ataxia, Self-injurious b...	OMIM:610954
Koolen-De Vries Syndrome	Hypopigmentation of hair, Cataract, Short stature, Abnormality of hair texture, Cryptorchidism, P...	ORPHA:96169
Bartsocas-Papas Syndrome 2	Corneal opacity, Antecubital pterygium, Popliteal pterygium, Low-set ears, Overfolded helix, Axil...	OMIM:619339
Cerebral Creatine Deficiency Syndrome 1	Broad-based gait, Short stature, Aggressive behavior, Underfolded superior helices, Elevated circ...	OMIM:300352
X-Linked Endothelial Corneal Dystrophy	Abnormal corneal endothelium morphology, Nuclear cataract, Corneal opacity, Band keratopathy	ORPHA:293621
Oculocerebrocutaneous Syndrome	Cryptorchidism, Alopecia	OMIM:164180
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Synophrys, Protruding ear, Abnormality of skin pigmentation, Tics, Otitis media, Compulsive behav...	OMIM:619475
Keratitis, Hereditary	Keratitis, Opacification of the corneal stroma	OMIM:148190
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia	Dystonia, Ataxia, Tremor, Chorea, Limb ataxia, Gait ataxia, Truncal ataxia, Oculomotor apraxia, P...	OMIM:208920
Hypermanganesemia With Dystonia 1	Dystonia, Parkinsonism, Tremor, Rigidity, Bradykinesia, Poor fine motor coordination, Abnormality...	OMIM:613280
Lamb-Shaffer Syndrome	Hyperactivity, Mild postnatal growth retardation, Ataxia, Abnormal temper tantrums, Abnormal repe...	ORPHA:530983
Dentatorubral Pallidoluysian Atrophy	Ataxia, Involuntary movements, Dyssynergia, Dysmetria, Gait ataxia, Choreoathetosis, Limb ataxia,...	ORPHA:101
9P13 Microdeletion Syndrome	Short stature, Hyperconvex nail, Highly arched eyebrow, Abnormality of cartilage of external ear,...	ORPHA:324313
Microphthalmia With Brain And Digit Anomalies	Cataract, Sclerocornea, Cryptorchidism, Sensorineural hearing impairment, Microcornea, Nail dyspl...	ORPHA:139471
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome	Abnormal eyebrow morphology, Alopecia, Streak ovary, Sparse facial hair, Sparse eyebrow, Cryptorc...	ORPHA:2232
Duane-Radial Ray Syndrome	Preaxial polydactyly, Shoulder dislocation, Triphalangeal thumb, Vesicoureteral reflux, Iris colo...	OMIM:607323
Blindness-Scoliosis-Arachnodactyly Syndrome	Cataract, Arachnodactyly, Lens subluxation, Microphakia	ORPHA:171844
Intellectual Developmental Disorder With Autistic Features And Language Delay, With Or Without Seizures	Spastic ataxia, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder	OMIM:618906
Intellectual Developmental Disorder, Autosomal Dominant 1	Short stature, Ataxia, Highly arched eyebrow, Aggressive behavior, Postnatal growth retardation, ...	OMIM:156200
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Melanonychia, Abnormality of retinal pigmentation, Severe short stature, Cataract, Abnormal eyela...	ORPHA:2526
Immunodeficiency 103, Susceptibility To Fungal Infections	Deep dermatophytosis, Decreased serum iron, Chronic oral candidiasis	OMIM:212050
Hurler-Scheie Syndrome	Growth delay, Short stature, Hirsutism, Corneal opacity	OMIM:607015
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type	Restlessness, Hyperactivity, Failure to thrive, Short stature, Pain insensitivity, Aggressive beh...	OMIM:300534
Polyarteritis Nodosa	Pericarditis, Elevated circulating C-reactive protein concentration, Erythema, Skin ulcer, Weight...	ORPHA:767
Neurofibromatosis Type 1	Abnormal hair quantity, Abnormality of retinal pigmentation, Generalized hyperpigmentation, Short...	ORPHA:636
Keratoendotheliitis Fugax Hereditaria	Keratitis, Conjunctival hyperemia, Opacification of the corneal stroma	OMIM:148200
Optic Atrophy 11	Hyperactivity, Short stature, Ataxia, Gait apraxia, Dysmetria, Athetosis, Stereotypical body rock...	OMIM:617302
Microscopic Polyangiitis	Episcleritis, Increased inflammatory response, Pericarditis, Sinusitis, Skin rash, Peritonitis, E...	ORPHA:727
Limbal Stem Cell Deficiency	Opacification of the corneal epithelium, Generalized opacification of the cornea, Keratitis, Corn...	ORPHA:171673
Leiomyomatosis, Diffuse, With Alport Syndrome	Renal insufficiency, Cataract, Glomerular basement membrane lamellation, Proteinuria, Thickened g...	OMIM:308940
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities	Failure to thrive, Short stature, Highly arched eyebrow, Low anterior hairline, Low posterior hai...	OMIM:615802
Limited Cutaneous Systemic Sclerosis	Abnormality of skin pigmentation, Hypopigmented skin patches, Skin ulcer, Dysphagia	ORPHA:220402
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Failure to thrive, Superficial dermal perivascular inflammatory infiltrate, Parakeratosis, Eczema...	ORPHA:83617
Acrorenal-Mandibular Syndrome	Hypoplasia of the ulna, Absent nipple, Toe syndactyly, Hypoplastic scapulae, Micrognathia, Missin...	OMIM:200980
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome	Broad eyebrow, Broad-based gait, Corneal opacity, Corneal dystrophy, Aggressive behavior, Sparse ...	ORPHA:495875
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency	Alopecia, Decreased circulating cortisol level, Acne, Short stature, Hyperpigmentation of the ski...	ORPHA:90795
Charcot-Marie-Tooth Disease Type 4B2	Cataract, Tremor, Inability to walk, Sensorineural hearing impairment, Developmental glaucoma, Pe...	ORPHA:99956
Dyskeratosis Congenita, X-Linked	Ridged nail, Split nail, Alopecia, Cataract, Sparse eyelashes, Short stature, Ataxia, Reticulated...	OMIM:305000
Walker-Warburg Syndrome	Cataract, Posteriorly rotated ears, Corneal opacity, Cryptorchidism, Protruding ear, Microcornea,...	ORPHA:899
Cutaneous Telangiectasia And Cancer Syndrome, Familial	Ridged nail, Alopecia, Yellow nails, Onycholysis, Nail dystrophy, Sparse lateral eyebrow	OMIM:614564
Epidermolysis Bullosa, Lethal Acantholytic	Alopecia totalis, Acantholysis, Absent fingernail, Neonatal death, Anonychia, Alopecia universalis	OMIM:609638
Myopia 28, Autosomal Recessive	Cataract	OMIM:619781
Norrie Disease	Cataract, Corneal opacity, Aggressive behavior, Sensorineural hearing impairment, Leukocoria, Hyp...	OMIM:310600
Dermatofibrosarcoma Protuberans	Erythema, Skin ulcer	ORPHA:31112
Cataract 20, Multiple Types	Lamellar cataract, Membranous cataract, Sutural cataract, Cortical cataract	OMIM:116100
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Corneal opacity, Synophrys, Cafe-au-lait spot, Thin eyebrow, Small nail, Intrauterine growth reta...	ORPHA:364577
Adams-Oliver Syndrome	Alopecia, Cataract, Aplastic/hypoplastic toenail, Absent fingernail, Sparse hair, Failure to thri...	ORPHA:974
Cornea Plana 2, Autosomal Recessive	Flat cornea, Corneal opacity, Sclerocornea, Corneal arcus, Decreased corneal thickness	OMIM:217300
Parkinson Disease 21	Tremor, Rigidity, Parkinsonism, Bradykinesia	OMIM:616361
Necrobiosis Lipoidica	Inflammatory abnormality of the skin, Erythema, Skin ulcer	ORPHA:542592
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language	Inability to walk, Abnormal repetitive mannerisms, Low-set ears	OMIM:613443
Koolen-De Vries Syndrome Due To A Point Mutation	Decreased response to growth hormone stimulation test, Protruding ear, Pineal cyst, Hypothyroidis...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Decreased response to growth hormone stimulation test, Protruding ear, Pineal cyst, Hypothyroidis...	ORPHA:363958
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Proteinuria, Heparan sulfate excretion in urine, Hepatosplenomegaly, Nephrotic syndrome, Heavy pr...	ORPHA:505248
Igg4-Related Kidney Disease	Renal insufficiency, Proteinuria, Renal interstitial immunoglobulin deposits, Urinary bladder inf...	ORPHA:449395
Obesity, Hyperphagia, And Developmental Delay	Abnormal repetitive mannerisms, Polyphagia, Obesity	OMIM:613886
Epidermodysplasia Verruciformis	Recurrent skin infections, Seborrheic dermatitis, Pustule, Hypopigmented skin patches, Multiple c...	ORPHA:302
Rothmund-Thomson Syndrome Type 2	Calcinosis, Plantar hyperkeratosis, Small for gestational age, Alopecia totalis, Short stature, H...	ORPHA:221016
Phocomelia, Schinzel Type	Bowing of the long bones, Radial bowing, Hypoplasia of penis, Talipes, Micromelia, Micrognathia, ...	ORPHA:2879
Insulin-Resistance Syndrome Type B	Alopecia, Enlarged ovaries, Skin rash, Pneumonia, Abnormality of body weight, Abnormal circulatin...	ORPHA:2298
Symptomatic Form Of Fragile X Syndrome In Female Carriers	Hyperactivity, Hyperthyroidism, Aggressive behavior, Hypothyroidism, Macrotia, Self-injurious beh...	ORPHA:449291
Pachyonychia Congenita 2	Sparse scalp hair, Dry hair, Subungual hyperkeratosis, Angular cheilitis, Sparse eyebrow, Palmopl...	OMIM:167210
Ichthyosis With Alopecia, Eclabium, Ectropion, And Mental Retardation	Alopecia	OMIM:242510
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs	Sex reversal, Adrenal gland agenesis, Hypospadias, Ovotestis	OMIM:611812
Kleine-Levin Syndrome	Abnormal eating behavior, Repetitive compulsive behavior, Sweet craving, Hypersexuality, Hyperhid...	ORPHA:33543
Beta-Thalassemia Major	Hypoparathyroidism, Failure to thrive in infancy, Skin ulcer, Growth delay, Adrenal insufficiency...	ORPHA:231214
Peroxisome Biogenesis Disorder 10B	Nephrocalcinosis, Neurogenic bladder, Cataract	OMIM:617370
Pick Disease Of Brain	Abnormal repetitive mannerisms, Polyphagia, Inappropriate laughter, Disinhibition	OMIM:172700
Late Infantile Neuronal Ceroid Lipofuscinosis	Hyperactivity, Ataxia, Aggressive behavior, Inability to walk, Astigmatism, Gait disturbance, Obs...	ORPHA:168491
Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Due To Copper Metabolism Defect	Steppage gait, Abnormal circulating creatine kinase concentration, Impaired vibration sensation i...	ORPHA:521411
Intellectual Developmental Disorder, Autosomal Recessive 41	Self-injurious behavior, Recurrent pneumonia, Abnormal repetitive mannerisms	OMIM:615637
Tyrosinemia, Type I	Hepatomegaly, Renal insufficiency, Splenomegaly, Nephrocalcinosis, Renal Fanconi syndrome, Glomer...	OMIM:276700
Oculocutaneous Albinism Type 3	White eyelashes, White eyebrow, Freckling, Absent skin pigmentation, Blue irides, Red hair, Gener...	ORPHA:79433
Optic Atrophy-Intellectual Disability Syndrome	Keratoconus, Short stature, Repetitive compulsive behavior, Protruding ear, Compulsive behaviors,...	ORPHA:401777
Atelosteogenesis, Type I	Micrognathia, Short metatarsal, Tibial bowing, Knee dislocation, Vertebral hypoplasia, Short meta...	OMIM:108720
Dyskeratosis Congenita, Digenic	Alopecia, Sparse eyelashes, Short stature, Abnormality of skin pigmentation, Nail dystrophy, Dysp...	OMIM:620040
Woodhouse-Sakati Syndrome	Alopecia, Streak ovary, Dystonia, Decreased response to growth hormone stimulation test, Hyperlip...	ORPHA:3464
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome	Sparse scalp hair, Alopecia, Absent eyebrow, Absent eyelashes, Hydrocele testis, Sparse body hair	ORPHA:69735
Dyggve-Melchior-Clausen Disease	Hyperactivity, Severe short stature, Rhizomelia, Corneal opacity, Inability to walk, Disproportio...	ORPHA:239
Mogs-Cdg	Absent brainstem auditory responses, Alopecia, Sensorineural hearing impairment, Hydrocele testis...	ORPHA:79330
Autoimmune Hypoparathyroidism	Cataract, Autoimmune hypoparathyroidism, Chronic mucocutaneous candidiasis, Hyperphosphatemia, Co...	ORPHA:36913
Tetraamelia Syndrome 1	Hypoplasia of the fallopian tube, Micrognathia, Asplenia, Absent external genitalia, Hypoplastic ...	OMIM:273395
3Mc Syndrome 3	Abnormal pinna morphology, Short stature, Highly arched eyebrow, Corneal opacity, Cryptorchidism,...	OMIM:248340
Fabry Disease	Conjunctival telangiectasia, Cataract, Short stature, Corneal dystrophy, Anorexia, Corneal opacit...	ORPHA:324
Hypotonia, Ataxia, And Delayed Development Syndrome	Pain insensitivity, Broad-based gait, Posteriorly rotated ears, Short stature, Ataxia, Cryptorchi...	OMIM:617330
Hypotrichosis 8	Ridged nail, Sparse scalp hair, Dry hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow,...	OMIM:278150
Spinocerebellar Ataxia Type 21	Tremor, Rigidity, Gait ataxia, Progressive cerebellar ataxia, Abnormality of extrapyramidal motor...	ORPHA:98773
Epidermolysis Bullosa Simplex With Muscular Dystrophy	Skin vesicle, Hyperconvex fingernails, Alopecia, Hypoplastic fingernail	ORPHA:257
Wolfram Syndrome 1	Sideroblastic anemia, Diabetes mellitus, Diabetes insipidus, Ataxia, Megaloblastic anemia, Tremor...	OMIM:222300
Focal Dermal Hypoplasia	Alopecia, Corneal opacity, Ectopia lentis, Erythema, Abnormality of skin pigmentation, Hypoplasia...	ORPHA:2092
Oculocerebral Hypopigmentation Syndrome, Preus Type	Cataract, Short stature, Ataxia, Hearing impairment, White hair, Ocular albinism, Generalized hyp...	ORPHA:2720
Isolated Aniridia	Aniridia, Cataract, Peters anomaly	ORPHA:250923
Cockayne Syndrome Type 1	Absent brainstem auditory responses, Failure to thrive, Cataract, Ataxia, Hypermelanotic macule, ...	ORPHA:90321
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities	Resting tremor, Ataxia, Chorea, Attention deficit hyperactivity disorder, Dystonia, Abnormal repe...	OMIM:619725
Oculocutaneous Albinism Type 1	White eyelashes, White eyebrow, Blue irides, Iris transillumination defect, Generalized hypopigme...	ORPHA:352731
Cockayne Syndrome A	Anhidrosis, Dry hair, Cataract, Abnormal pinna morphology, Short stature, Abnormal auditory evoke...	OMIM:216400
Hurler Syndrome	Short stature, Corneal opacity, Opacification of the corneal stroma, Recurrent otitis media, Hirs...	OMIM:607014
Anemia, Hypochromic Microcytic, With Iron Overload 2	Increased circulating ferritin concentration, Elevated transferrin saturation, Growth delay, Pall...	OMIM:615234
Premature Aging Syndrome, Penttinen Type	Corneal opacity, Sensorineural hearing impairment, Palmoplantar hyperkeratosis, Corneal stromal e...	OMIM:601812
Amish Nemaline Myopathy	Tremor, Hip contracture, Shoulder flexion contracture	ORPHA:98902
Waardenburg Syndrome, Type 2E	White eyelashes, White eyebrow, Aplasia of the semicircular canal, Sensorineural hearing impairme...	OMIM:611584
Beta-Thalassemia Intermedia	Hypoparathyroidism, Skin ulcer, Adrenal insufficiency, Pallor, Abnormality of iron homeostasis, E...	ORPHA:231222
Mandibuloacral Dysplasia With Type B Lipodystrophy	Calcinosis, Alopecia, Short stature, Abnormal hair morphology, Hyperlipidemia, Nail dystrophy, De...	ORPHA:90154
Sjogren-Larsson Syndrome	Astigmatism, Short stature, Opacification of the corneal epithelium	OMIM:270200
Congenital Factor Xii Deficiency	Penetrating foot ulcers	ORPHA:330
Aceruloplasminemia	Torticollis, Ataxia, Decreased serum iron, Increased circulating ferritin concentration, Chorea, ...	OMIM:604290
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis	Short stature, Ataxia, Postural tremor, Seborrheic dermatitis, Truncal obesity, Aspiration pneumo...	OMIM:301072
Oculocutaneous Albinism Type 4	Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism, White hair, Ocular albin...	ORPHA:79435
Calciphylaxis	Hyperphosphatemia, Skin ulcer, Abnormality of skin physiology, Secondary hyperparathyroidism	ORPHA:280062
Lethal Acantholytic Erosive Disorder	Absent eyebrow, Abnormal pinna morphology, Acantholysis, Absent eyelashes, Absent toenail, Absent...	ORPHA:158687
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts	Increased circulating ferritin concentration, Growth delay, Increased serum iron, Adrenal insuffi...	ORPHA:300298
Irida Syndrome	Hyperkeratosis, Decreased circulating copper concentration, Pallor	ORPHA:209981
Waardenburg Syndrome	Abnormal eyebrow morphology, Hypopigmentation of hair, Synophrys, Hypopigmented skin patches, Pre...	ORPHA:3440
Frontonasal Dysplasia 2	Sparse eyelashes, Alopecia totalis, Bilateral cryptorchidism, Sparse eyebrow, Fine hair, Hypohidr...	OMIM:613451
Neurodevelopmental Disorder With Variable Motor And Language Impairment	Dystonia, Posteriorly rotated ears, Ataxia, Prominent crus of helix, Inability to walk, Synophrys...	OMIM:617804
Chime Syndrome	Corneal opacity, Erythema, Skin ulcer, Fine hair, Hyperkeratosis, Sparse hair, Abnormality of the...	ORPHA:3474
Hereditary Spherocytosis	Maculopapular exanthema, Ataxia, Gout, Skin ulcer, Growth delay, Pallor, Hyperbilirubinemia, Chol...	ORPHA:822
Hurler Syndrome	Short stature, Corneal opacity, Growth delay, Abnormality of skin pigmentation, Rhinitis, General...	ORPHA:93473
Hypotrichosis-Lymphedema-Telangiectasia Syndrome	Sparse scalp hair, Alopecia, Absent eyebrow, Abnormal sweat gland morphology, Absent eyelashes, H...	OMIM:607823
Insulinoma	Tremor, Abnormality of the pancreatic islet cells, Fasting hyperinsulinemia, Primary hyperparathy...	ORPHA:97279
Beckwith-Wiedemann Syndrome	Hepatomegaly, Cardiomegaly, Pancreatic hyperplasia, Nephrolithiasis, Renal cortical cysts, Nephro...	OMIM:130650
Cardiofaciocutaneous Syndrome 1	Absent eyebrow, Curly hair, Posteriorly rotated ears, Slow-growing hair, Short stature, Absent ey...	OMIM:115150
Eiken Syndrome	Broad femoral neck, Delayed epiphyseal ossification, Flat acetabular roof, Fibular hypoplasia, Fl...	OMIM:600002
Kleefstra Syndrome	Short stature, Highly arched eyebrow, Supernumerary nipple, Aggressive behavior, Cryptorchidism, ...	ORPHA:261494
Mosaic Trisomy 8	Abnormal pinna morphology, Short stature, Corneal opacity, Cryptorchidism, Hypopigmented skin pat...	ORPHA:96061
Porphyria, Congenital Erythropoietic	Absent eyebrow, Alopecia, Short stature, Loss of eyelashes, Corneal scarring, Conjunctivitis, Ele...	OMIM:263700
Posterior Polymorphous Corneal Dystrophy	Increased corneal curvature, Corneal opacity, Uveal ectropion, Abnormal Descemet membrane morphol...	ORPHA:98973
Classical-Like Ehlers-Danlos Syndrome Type 2	Alopecia, Hypertriglyceridemia, Redundant skin, Impaired temperature sensation, Cryptorchidism, K...	ORPHA:536532
Seckel Syndrome 1	11 pairs of ribs, Pes planus, Pancytopenia, Ivory epiphyses, Sandal gap, Abnormal finger flexion ...	OMIM:210600
Fibrodysplasia Ossificans Progressiva	Conductive hearing impairment, Alopecia, Sensorineural hearing impairment	OMIM:135100
Hypergonadotropic Hypogonadism And Partial Alopecia	Alopecia, Streak ovary	OMIM:241090
Blau Syndrome	Nongranulomatous uveitis, Pericarditis, Cataract, Eczema, Band keratopathy, Erythema nodosum, Abn...	OMIM:186580
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin	Broad-based gait, Short stature, Cupped ear, Limb ataxia, Self-injurious behavior, Low-set ears, ...	OMIM:617101
Chromosome 6Pter-P24 Deletion Syndrome	Posteriorly rotated ears, Sensorineural hearing impairment, Pigmentary retinopathy, Frontal upswe...	OMIM:612582
Marbach-Schaaf Neurodevelopmental Syndrome	Torticollis, Posteriorly rotated ears, Hemidystonia, Aggressive behavior, Tremor, Obesity, Astigm...	OMIM:619680
Acromelic Frontonasal Dysplasia	Anterior pituitary hypoplasia, Cryptorchidism, Patellar hypoplasia, Talipes equinovarus, Preaxial...	ORPHA:1827
Bartsocas-Papas Syndrome 1	Absent eyebrow, Alopecia, Sparse scalp hair, Alopecia totalis, Bilateral cryptorchidism, Absent e...	OMIM:263650
Ophthalmomandibulomelic Dysplasia	Megalocornea, Corneal opacity	ORPHA:2741
Gerstmann-Straussler Disease	Parkinsonism, Tremor, Rigidity, Limb ataxia, Gait ataxia, Bradykinesia, Myoclonus, Truncal ataxia...	OMIM:137440
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Hypoplasia of the ulna, Renal insufficiency, Proteinuria, Chronic kidney disease, Early ossificat...	OMIM:208500
Atypical Werner Syndrome	Abnormal hair whorl, Premature graying of hair, Alopecia, Short stature, Lack of skin elasticity,...	ORPHA:79474
Pediatric Systemic Lupus Erythematosus	Myositis, Alopecia, Skin rash, Discoid lupus rash, Arthritis, Malar rash, Nephritis	ORPHA:93552
Hajdu-Cheney Syndrome	Cataract, Abnormal fingernail morphology, Short stature, Synophrys, Low anterior hairline, Dry sk...	ORPHA:955
Dyskeratosis Congenita, Autosomal Dominant 1	Ridged nail, Alopecia, Ataxia, Nail pits, Reticular hyperpigmentation, Premature graying of hair,...	OMIM:127550
Immunodeficiency 25	Recurrent pneumonia, Erythroderma	OMIM:610163
Hydroxykynureninuria	Congenital sensorineural hearing impairment, Abnormal circulating tryptophan concentration, Stoma...	ORPHA:79155
Hallermann-Streiff Syndrome	Alopecia, Sparse eyelashes, Proportionate short stature, Abnormality of hair texture, Sparse eyeb...	ORPHA:2108
Adult Polyglucosan Body Disease	Gait disturbance, Ataxia, Skin ulcer, Distal sensory impairment	ORPHA:206583
Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities	Hyperactivity, Aggressive behavior, Postnatal growth retardation, Attention deficit hyperactivity...	OMIM:620242
Corneal Dystrophy, Posterior Polymorphous, 1	Polymorphous posterior corneal dystrophy, Iris atrophy, Corneal opacity, Band keratopathy, Uveal ...	OMIM:122000
Prader-Willi Syndrome	Hypopigmentation of the skin, Hypopigmentation of hair, Failure to thrive in infancy, Decreased r...	OMIM:176270
Premature Aging Syndrome, Okamoto Type	Abnormal hair morphology, Cataract, Abnormal pinna morphology, Low-set ears	OMIM:601811
Distal Deletion 6P	Posterior embryotoxon, Corneal opacity, Hypoplasia of the iris, Self-injurious behavior, Anterior...	ORPHA:96125
Wiedemann-Rautenstrauch Syndrome	Decreased response to growth hormone stimulation test, Tremor, Synophrys, Abnormality of the ear,...	ORPHA:3455
Mandibuloacral Dysplasia With Type B Lipodystrophy	Alopecia, Brittle hair, Hyperlipidemia, Growth delay, Sparse hair, Mottled pigmentation	OMIM:608612
Kikuchi-Fujimoto Disease	Alopecia, Skin rash, Ataxia, Anorexia, Elevated circulating C-reactive protein concentration, Pru...	ORPHA:50918
Glycogen Storage Disease Of Heart, Lethal Congenital	Cataract, Enlarged kidney, Cardiomegaly	OMIM:261740
Vici Syndrome	Hypopigmentation of hair, Cataract, Elevated circulating creatine kinase concentration, Albinism,...	OMIM:242840
Multiple Sulfatase Deficiency	Corneal opacity, Short stature, Ataxia, Hearing impairment	OMIM:272200
Cystinosis, Nephropathic	Oral-pharyngeal dysphagia, Hypophosphatemic rickets, Hypopigmentation of the skin, Hyponatremia, ...	OMIM:219800
Xp22.3 Microdeletion Syndrome	Short stature, Opacification of the corneal stroma, Polycystic ovaries	ORPHA:1643
Marshall Syndrome	Cataract, Radial bowing, Micrognathia, Absent frontal sinuses, Lens luxation, Ulnar bowing, Knee ...	OMIM:154780
Orofaciodigital Syndrome X	Preaxial hand polydactyly, Coalescence of tarsal bones, Hand oligodactyly, Fibular aplasia	OMIM:165590
Wiedemann-Rautenstrauch Syndrome	Hypoplasia of the thymus, Small earlobe, Intention tremor, Absent eyebrow, Alopecia, Short statur...	OMIM:264090
Adult Syndrome	Sparse scalp hair, Absent nipple, Fair hair, Eczema, Sparse axillary hair, Dry skin, Nail pits, C...	OMIM:103285
Ataxia-Telangiectasia	Diabetes mellitus, Female hypogonadism, Ataxia, Dystonia, Tremor, Slurred speech, Acute lymphobla...	OMIM:208900
Simpson-Golabi-Behmel Syndrome, Type 1	Renal cyst, Narrow greater sciatic notch, Short palm, Hepatomegaly, Hypospadias, Short greater sc...	OMIM:312870
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Small for gestational age, Corneal opacity, Cryptorchidism, Protruding ear, Birth length less tha...	ORPHA:464311
Fowler Urethral Sphincter Dysfunction Syndrome	Abnormality of the ovary, Polycystic ovaries	ORPHA:2795
Parkinson Disease 18, Autosomal Dominant, Susceptibility To	Rigidity, Resting tremor, Bradykinesia, Parkinsonism	OMIM:614251
Sim1-Related Prader-Willi-Like Syndrome	Hypopigmentation of the skin, Hypopigmentation of hair, Impaired temperature sensation, Cryptorch...	ORPHA:398079
Orofaciodigital Syndrome Type 1	Alopecia, Brittle hair, Ataxia, Pancreatic cysts, Exocrine pancreatic insufficiency, Tremor, Coar...	ORPHA:2750
5Q14.3 Microdeletion Syndrome	Abnormal repetitive mannerisms, Thick eyebrow	ORPHA:228384
Kleefstra Syndrome 1	Abnormal pinna morphology, Aggressive behavior, Cryptorchidism, Synophrys, Obesity, Compulsive be...	OMIM:610253
Anterior Segment Dysgenesis 5	Rieger anomaly, Sclerocornea, Developmental cataract, Microcornea, Hypoplasia of the iris, Anteri...	OMIM:604229
Prader-Willi Syndrome Due To Translocation	Hypopigmentation of the skin, Hypopigmentation of hair, Short stature, Decreased response to grow...	ORPHA:177907
Magel2-Related Prader-Willi-Like Syndrome	Hypopigmentation of the skin, Hypopigmentation of hair, Short stature, Impulsivity, Impaired temp...	ORPHA:398069
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities	Short stature, Overweight, Sensorineural hearing impairment, Head-banging, Self-injurious behavio...	OMIM:619575
Schimke Immunoosseous Dysplasia	Waddling gait, Small for gestational age, Hypermelanotic macule, Bilateral cryptorchidism, Dispro...	OMIM:242900
Hermansky-Pudlak Syndrome 3	Hypopigmentation of hair, Hypopigmentation of the skin, Albinism	OMIM:614072
Gracile Syndrome	Increased circulating ferritin concentration, Elevated hepatic iron concentration, Decreased tran...	ORPHA:53693
Colchicine Poisoning	Hyponatremia, Alopecia, Myocarditis, Abnormal blood ion concentration, Hypophosphatemia, Hypokale...	ORPHA:31824
Dilated Cardiomyopathy With Ataxia	Ataxia, Action tremor, Bilateral cryptorchidism, Repetitive compulsive behavior, Growth delay, Bi...	ORPHA:66634
Kyphomelic Dysplasia	Short humerus, Short metacarpal, Radial bowing, Short femur, Bowed humerus, Micromelia, Micrognat...	OMIM:211350
Wilson Disease	Hypoparathyroidism, Limb dystonia, Decreased circulating ceruloplasmin concentration, Hypouricemi...	OMIM:277900
Neurodevelopmental, Jaw, Eye, And Digital Syndrome	Impulsivity, Aggressive behavior, Cupped ear, Lens coloboma, Self-injurious behavior, Abnormal re...	OMIM:618914
Peroxisome Biogenesis Disorder 2A (Zellweger)	Cataract, Brushfield spots, Cryptorchidism, Pigmentary retinopathy, Hypoplasia of the thymus, Abn...	OMIM:214110
Fibrochondrogenesis 1	Hypoplastic scapulae, Rhizomelia, Broad long bones, Dumbbell-shaped long bone, Hypoplastic ischia...	OMIM:228520
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Skin rash, Eczema, Elevated circulating C-reactive protein concentration, Ataxia, Erythema nodosu...	OMIM:615688
Chediak-Higashi Syndrome	Recurrent bacterial skin infections, Hypopigmentation of hair, Ataxia, Tremor, Silver-gray hair, ...	OMIM:214500
Mucopolysaccharidosis, Type Ivb	Corneal opacity, Ataxia, Disproportionate short-trunk short stature, Opacification of the corneal...	OMIM:253010
White-Sutton Syndrome	Hyperactivity, Posteriorly rotated ears, Short stature, Aggressive behavior, Sensorineural hearin...	ORPHA:468678
Corneal Dystrophy, Fuchs Endothelial, 3	Corneal stromal edema, Corneal opacity, Corneal guttata	OMIM:613267
Papillorenal Syndrome	Renal malrotation, Multicystic kidney dysplasia, Cataract, Proteinuria, Lens luxation, Absence of...	OMIM:120330
Immunodeficiency 7	Patchy alopecia, Chronic oral candidiasis, Recurrent otitis media, Failure to thrive, Vitiligo	OMIM:615387
Kindler Epidermolysis Bullosa	Recurrent skin infections, Corneal opacity, Erythema, Cheilitis, Abnormality of skin pigmentation...	ORPHA:2908
Neutrophilic Dermatosis, Acute Febrile	Elevated circulating C-reactive protein concentration, Erythema, Pyoderma gangrenosum, Panniculit...	OMIM:608068
Spondylometaphyseal Dysplasia With Corneal Dystrophy	Corneal opacity	OMIM:618961
Hermansky-Pudlak Syndrome 1	Hypopigmentation of hair, Freckles in sun-exposed areas, Freckling, Albinism, Ocular albinism, Me...	OMIM:203300
Encephalocraniocutaneous Lipomatosis	Alopecia, Linear hyperpigmentation, Sclerocornea, Cryptorchidism, Hypoplasia of the iris, Limbal ...	OMIM:613001
Galloway-Mowat Syndrome 1	Dystonia, Small for gestational age, Short stature, Ataxia, Cataract, Hypoplasia of the iris, Hyp...	OMIM:251300
Autoimmune Polyendocrinopathy Type 4	Atrophic gastritis, Alopecia, Iridocyclitis, Xerostomia, Hepatitis, Chronic mucocutaneous candidi...	ORPHA:227990
Autosomal Recessive Polycystic Kidney Disease	Renal insufficiency, Recurrent urinary tract infections, Micrognathia, Splenomegaly, Oliguria, St...	ORPHA:731
Hermansky-Pudlak Syndrome	Hypopigmentation of hair, Cataract, Partial albinism, Anorexia, Ocular albinism, Weight loss, Mel...	ORPHA:79430
Aniridia 3	Aniridia, Cataract	OMIM:617142
Autoimmune Polyendocrinopathy Type 3	Atrophic gastritis, Alopecia, Autoimmune hypoparathyroidism, Iridocyclitis, Xerostomia, Hepatitis...	ORPHA:227982
Ogden Syndrome	Microretrognathia, Global glomerulosclerosis, Congenital hip dislocation, Sandal gap, Broad hallu...	OMIM:300855
Norrie Disease	Failure to thrive, Aplasia/Hypoplasia of the lens, Corneal opacity, Cataract, Cachexia, Sclerocor...	ORPHA:649
Prader-Willi Syndrome	Hypopigmentation of the skin, Hypopigmentation of hair, Short stature, Decreased response to grow...	ORPHA:739
Scheie Syndrome	Corneal opacity	OMIM:607016
Aplasia Cutis Congenita	Skin ulcer	ORPHA:1114
Chronic Graft Versus Host Disease	Fasciitis, Alopecia, Anorexia, Urinary bladder inflammation, Erythema, Xerostomia, Bronchiectasis...	ORPHA:99921
Aplasia Cutis-Myopia Syndrome	Abnormality of retinal pigmentation, Skin ulcer	ORPHA:1117
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia	Abnormal repetitive mannerisms, Disinhibition, Dysphagia	OMIM:612069
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease	Abnormal eyebrow morphology, Hypopigmentation of hair, Ataxia, Sensorineural hearing impairment, ...	ORPHA:163746
Neuropathy, Hereditary Sensory And Autonomic, Type Iia	Anhidrosis, Episodic hyperhidrosis, Paronychia, Painless fractures due to injury, Acral ulceration	OMIM:201300
Spinocerebellar Ataxia, Autosomal Recessive 30	Tremor, Ataxia, Dysmetria, Titubation	OMIM:619405
Neuropathy, Hereditary Sensory And Autonomic, Type Iib	Episodic hyperhidrosis, Osteomyelitis, Acral ulceration	OMIM:613115
Nestor-Guillermo Progeria Syndrome	Sparse scalp hair, Alopecia, Sparse eyelashes, Short stature, Sparse eyebrow, Dry skin, Growth de...	OMIM:614008
Tangier Disease	Hypertriglyceridemia, Corneal opacity, Impaired temperature sensation, Nail dystrophy, Hypocholes...	ORPHA:31150
Familial Pterygium Of The Conjunctiva	Opacification of the corneal stroma	ORPHA:2989
Multicentric Osteolysis, Nodulosis, And Arthropathy	Peripheral opacification of the cornea, Short stature, Hypermelanotic macule, Corneal opacity, Ga...	OMIM:259600
Peroxisome Biogenesis Disorder 5A (Zellweger)	Cataract, Small for gestational age, Conjugated hyperbilirubinemia, Cryptorchidism, Sensorineural...	OMIM:614866
Oculocutaneous Albinism Type 1A	Hypopigmentation of hair, Albinism, Ocular albinism, Hyperkeratosis, Freckling, Hypopigmentation ...	ORPHA:79431
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum	Anorexia, Oral-pharyngeal dysphagia, Xerostomia, Gastrointestinal inflammation, Conjunctivitis, C...	ORPHA:95455
Digeorge Syndrome	Acne, Parathyroid agenesis, Short stature, Seborrheic dermatitis, Sclerocornea, Recurrent pneumon...	OMIM:188400
Neurodegeneration With Brain Iron Accumulation 5	Dystonia, Parkinsonism, Tremor, Rigidity, Bradykinesia, Spastic paraparesis	OMIM:300894
Heterotaxy, Visceral, 1, X-Linked	Hepatomegaly, Absence of the sacrum, Congenital hip dislocation, Renal agenesis, Cardiomegaly, Ho...	OMIM:306955
Chédiak-Higashi Syndrome	Hyponatremia, Recurrent bacterial skin infections, Hypopigmentation of hair, Hypertriglyceridemia...	ORPHA:167
Erythroderma Desquamativum	Failure to thrive, Seborrheic dermatitis	ORPHA:314
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities	Short ear, Hyperactivity, Broad-based gait, Posteriorly rotated ears, Short stature, Ataxia, Aggr...	OMIM:614756
Peroxisome Biogenesis Disorder 1A (Zellweger)	Redundant neck skin, Posteriorly rotated ears, Cataract, Brushfield spots, Cryptorchidism, Sensor...	OMIM:214100
Mesomelia-Synostoses Syndrome	Microretrognathia, Ulnar deviation of the hand, Progressive forearm bowing, Micromelia, Micrognat...	OMIM:600383
Moebius Syndrome	Corneal opacity, Breast aplasia, Dysphagia, Multiple cafe-au-lait spots, Blepharitis, Hearing imp...	ORPHA:570
Proximal 16P11.2 Microdeletion Syndrome	Sensorineural hearing impairment, Obesity, Choreoathetosis, Attention deficit hyperactivity disor...	ORPHA:261197
Toxic Epidermal Necrolysis	Acantholysis, Corneal erosion, Erythema, Skin ulcer, Weight loss, Conjunctivitis, Dysphagia, Poly...	ORPHA:537
Hypopigmentation, Organomegaly, And Delayed Myelination And Development	Hypopigmentation of hair, Short stature, Growth delay, Intrauterine growth retardation, Cafe-au-l...	OMIM:618541
Primary Sjögren Syndrome	Myositis, Chronic active hepatitis, Chorea, Xerostomia, Tubulointerstitial nephritis, Corneal per...	ORPHA:289390
Oligoarticular Juvenile Idiopathic Arthritis	Cataract, Band keratopathy, Knee osteoarthritis, Oligoarthritis, Uveitis, Severe postnatal growth...	ORPHA:85410
Holocarboxylase Synthetase Deficiency	Alopecia, Skin rash, Hyperammonemia	OMIM:253270
Woodhouse-Sakati Syndrome	Alopecia, Sensorineural hearing impairment, Hyperlipidemia, Protruding ear, Fine hair, Choreoathe...	OMIM:241080
Lipodystrophy, Familial Partial, Type 7	Sparse scalp hair, Hypertriglyceridemia, Small for gestational age, Cataract, Facial wrinkling, D...	OMIM:606721
Oculocutaneous Albinism Type 2	Abnormality of retinal pigmentation, Hypopigmentation of hair, White eyelashes, White eyebrow, Ab...	ORPHA:79432
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Hepatomegaly, Proteinuria, Stage 5 chronic kidney disease, Nephrolithiasis, Nephrocalcinosis, Enl...	ORPHA:79259
X-Linked Intellectual Disability, Cabezas Type	Hypoplasia of penis, Toe syndactyly, Sandal gap, Camptodactyly of finger, Down-sloping shoulders,...	ORPHA:85293
Mandibuloacral Dysplasia With Type A Lipodystrophy	Calcinosis, Sparse scalp hair, Alopecia, Postnatal growth retardation, Hyperlipidemia, Growth del...	OMIM:248370
Classic Progressive Supranuclear Palsy Syndrome	Axial dystonia, Parkinsonism, Tremor, Abnormal pyramidal sign, Blepharospasm, Bradykinesia, Slowe...	ORPHA:240071
Intellectual Developmental Disorder, Autosomal Dominant 22	Abnormal pinna morphology, Short stature, Highly arched eyebrow, Proportionate short stature, Gro...	OMIM:612337
Mednik Syndrome	Hyperkeratosis, Decreased circulating ceruloplasmin concentration, Decreased circulating copper c...	ORPHA:171851
Cockayne Syndrome	Dry hair, Progressive gait ataxia, Lentiglobus, Intention tremor, Ataxia, Cryptorchidism, Abnorma...	ORPHA:191
Occipital Horn Syndrome	Pes planus, Recurrent urinary tract infections, Brachydactyly, Down-sloping shoulders, Aplastic c...	ORPHA:198
Otopalatodigital Syndrome Type 2	Bowing of the long bones, Cataract, Hypospadias, Tarsal synostosis, Short hallux, Ureteral obstru...	ORPHA:90652
Kallmann Syndrome	Hypothalamic gonadotropin-releasing hormone deficiency, Pes planus, Hypoplasia of penis, Hypogona...	ORPHA:478
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities	Cryptorchidism, Head-banging, Low-set ears, Attention deficit hyperactivity disorder, Frequent te...	OMIM:619103
Lcat Deficiency	Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ...	ORPHA:650
Wrinkly Skin Syndrome	Short stature, Postnatal growth retardation, Cryptorchidism, Excessive skin wrinkling on dorsum o...	ORPHA:2834
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency	Abnormality of skin pigmentation, Skin ulcer, Purpura	ORPHA:743
Tay-Sachs Disease	Exaggerated startle response, Incoordination, Dystonia, Quadriceps muscle atrophy, Precocious pub...	ORPHA:845
Cousin Syndrome	Hypoplastic scapulae, Rhizomelia, Hypoplastic ischia, Micrognathia, 4-5 toe syndactyly, Humerorad...	OMIM:260660
Microphthalmia, Isolated 2	Opacification of the corneal stroma	OMIM:610093
Pyoderma Gangrenosum	Myositis, Pustule, Skin ulcer, Inflammation of the large intestine, Rheumatoid arthritis, Skin ve...	ORPHA:48104
Microphthalmia With Linear Skin Defects Syndrome	Abnormality of retinal pigmentation, Failure to thrive, Severe short stature, Corneal opacity, Po...	ORPHA:2556
Severe Generalized Junctional Epidermolysis Bullosa	Alopecia, Recurrent skin infections, Pneumonia, Paronychia, Abnormal blood ion concentration, Gas...	ORPHA:79404
Hypertrophic Osteoarthropathy, Primary, Autosomal Dominant	Hyperhidrosis, Acne, Seborrheic dermatitis	OMIM:167100
Seborrhea-Like Dermatitis With Psoriasiform Elements	Hyperkeratosis, Seborrheic dermatitis	OMIM:610227
Pseudo-Torch Syndrome 1	Cataract, Low-set ears, Dystonia, Opacification of the corneal stroma, Failure to thrive, Petechiae	OMIM:251290
Houge-Janssens Syndrome 3	Self-injurious behavior, Megalocornea, Abnormal repetitive mannerisms, Attention deficit hyperact...	OMIM:618354
Myopathy, Mitochondrial, And Ataxia	Hyperthyroidism, Ataxia, Micrognathia, Tremor, Dysmetria, Limb ataxia, Dysdiadochokinesis, Trunca...	OMIM:617675
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2	Seborrheic dermatitis, Large for gestational age, Abnormality of skin pigmentation, Small nail, E...	OMIM:300868
Chromosome 15Q11.2 Deletion Syndrome	Short stature, Ataxia, Attention deficit hyperactivity disorder, Compulsive behaviors, Juvenile r...	OMIM:615656
Alpha-Mannosidosis, Infantile Form	Mixed hearing impairment, Cataract, Ataxia, Pneumonia, Highly arched eyebrow, Corneal opacity, Se...	ORPHA:309282
22Q11.2 Duplication Syndrome	Anterior creases of earlobe, Growth delay, Attention deficit hyperactivity disorder, Compulsive b...	ORPHA:1727
Aromatase Deficiency	Ovarian cyst, Hypergonadotropic hypogonadism, Female pseudohermaphroditism	OMIM:613546
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities	Cryptorchidism, Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms, Hirsutism	OMIM:620073
Ulna And Fibula, Absence Of, With Severe Limb Deficiency	Small scrotum, Aplasia/hypoplasia of the extremities, Femoral bowing, Anteriorly displaced genita...	OMIM:276820
Mitochondrial Complex Iii Deficiency, Nuclear Type 10	Small for gestational age, Alopecia totalis, Elevated circulating creatine kinase concentration, ...	OMIM:618775
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Broad-based gait, Corneal opacity, Cachexia, Sensorineural hearing impairment, Skin ulcer, Limb a...	ORPHA:2072
Neurocardiofaciodigital Syndrome	Cataract, Small for gestational age, Short stature, Sclerocornea, Sparse eyebrow, Sparse hair, Fa...	OMIM:619869
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome	Tremor, Rigidity, Blepharospasm, Spastic dysarthria, Bradykinesia, Oculomotor apraxia, Distal low...	ORPHA:240094
Blau Syndrome	Pericarditis, Cataract, Skin rash, Keratitis, Retrobulbar optic neuritis, Erythema nodosum, Irido...	ORPHA:90340
Chops Syndrome	Curly hair, Cataract, Short stature, Thick hair, Cryptorchidism, Synophrys, Obesity, Coarse hair,...	OMIM:616368
Mucopolysaccharidosis Type 4	Corneal opacity, Short stature, Gait disturbance, Hearing impairment	ORPHA:582
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation	Spastic ataxia, Torticollis, Postnatal growth retardation, Inability to walk, Sensorineural heari...	ORPHA:300570
Primrose Syndrome	Bilateral cryptorchidism, Synophrys, Tics, Posterior polar cataract, Abnormal repetitive manneris...	OMIM:259050
Hutchinson-Gilford Progeria Syndrome	High-frequency sensorineural hearing impairment, Absent eyebrow, Corneal opacity, Alopecia totali...	ORPHA:740
Microphthalmia, Isolated, With Coloboma 9	Sclerocornea, Microcornea, Low-set ears, Ocular anterior segment dysgenesis, Macrotia, Iris coloboma	OMIM:615145
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs	Iris atrophy, Pes planus, Cataract, Arachnodactyly, Broad hallux, Ectopia lentis, Spherophakia, A...	OMIM:601552
Iron Overload, Susceptibility To	Elevated circulating hepcidin concentration, Increased circulating ferritin concentration, Elevat...	OMIM:620121
Scheie Syndrome	Sensorineural hearing impairment, Rhinitis, Corneal opacity	ORPHA:93474
Fuchs Endothelial Corneal Dystrophy	Abnormal corneal endothelium morphology, Reduced number of corneal endothelial cells, Abnormal De...	ORPHA:98974
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities	Disproportionate short stature, Erythroderma	OMIM:617425
Muenke Syndrome	Sensorineural hearing impairment, Hypopigmented skin patches, Hypopigmentation of hair, Hypermela...	ORPHA:53271
Sweet Syndrome	Predominantly dermal neutrophilic infiltrate, Myositis, Acne, Elevated circulating C-reactive pro...	ORPHA:3243
Amoebiasis Due To Free-Living Amoebae	Unusual skin infection, Restlessness, Sinusitis, Ataxia, Pneumonia, Pustule, Skin ulcer, Corneal ...	ORPHA:68
3Q29 Microduplication Syndrome	Cataract, Sclerocornea, Obesity, Low-set ears, Aniridia, Iris coloboma, Hearing impairment	ORPHA:251038
Hutchinson-Gilford Progeria Syndrome	Growth delay, Alopecia	OMIM:176670
Yao Syndrome	Inflammatory abnormality of the skin, Pericarditis, Skin rash, Xerostomia, Weight loss, Arthritis...	OMIM:617321
Farber Disease	Short stature, Corneal opacity, Arthritis, Abnormal conjunctiva morphology, Opacification of the ...	ORPHA:333
Behcet Syndrome	Erythema nodosum, Iridocyclitis, Epididymitis, Erythema, Arthritis, Patchy alopecia, Iritis, Hypo...	OMIM:109650
Cryoglobulinemic Vasculitis	Viral hepatitis, Skin ulcer, Arthritis, Keratoconjunctivitis sicca, Petechiae, Purpura	ORPHA:91138
Beckwith-Wiedemann Syndrome	Ureteral duplication, Hepatomegaly, Cardiomegaly, Splenomegaly, Nephrolithiasis, Hypercalciuria, ...	ORPHA:116
Cataract 39, Multiple Types	Lamellar cataract, Anterior polar cataract, Developmental cataract	OMIM:615188
Vitreoretinal Degeneration, Snowflake Type	Cataract, Corneal guttata	OMIM:193230
Scalp-Ear-Nipple Syndrome	Cataract, Abnormal fingernail morphology, Underdeveloped antitragus, Pyelonephritis, Hypohidrosis...	ORPHA:2036
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type	Hyperactivity, Cryptorchidism, Gait ataxia, Macrotia, Abnormal repetitive mannerisms, Self-mutila...	OMIM:300486
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome	Dystonia, Abnormal blood inorganic cation concentration, Action tremor, Dysdiadochokinesis, Gait ...	ORPHA:309854
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures	Exaggerated startle response, Tremor, Truncal titubation, Dysmetria, Gait ataxia, Hypertonia, Cli...	OMIM:618056
Epilepsy, Familial Adult Myoclonic, 2	Tremor, Ataxia, Blepharospasm, Myoclonus	OMIM:607876
Subcutaneous Panniculitis-Like T-Cell Lymphoma	Panniculitis, Skin ulcer, Weight loss	ORPHA:86884
Mucolipidosis Iii Gamma	Short stature, Increased serum beta-hexosaminidase, Opacification of the corneal stroma	OMIM:252605
Oculocutaneous Albinism Type 1B	Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism, Melanocytic nevus, Freck...	ORPHA:79434
Dyschondrosteosis-Nephritis Syndrome	Intrauterine growth retardation, Mesomelic short stature, Short stature, Corneal opacity	ORPHA:1765
Cushing Disease	Sparse scalp hair, Striae distensae, Adrenal hyperplasia, Acne, Hyperpigmentation of the skin, Pi...	ORPHA:96253
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome	Pes planus, Cataract, Hypospadias, Rhizomelia, Sclerocornea, 2-3 toe syndactyly, Microcornea, Ect...	OMIM:615877
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Increased circulating ferritin concentration, Elevated transferrin saturation, Increased serum ir...	ORPHA:766
Candidiasis, Familial, 8	Chronic oral candidiasis, Blepharitis, Cheilitis, Seborrheic dermatitis	OMIM:615527
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome	Abnormal location of the eyebrow, Ataxia, Repetitive compulsive behavior, Widow's peak, Chorea, S...	ORPHA:522077
Mosaic Variegated Aneuploidy Syndrome	Low-set, posteriorly rotated ears, Cataract, Short stature, Corneal opacity, Growth delay, Abnorm...	ORPHA:1052
Spondylodysplastic Ehlers-Danlos Syndrome	Low-set, posteriorly rotated ears, Sparse scalp hair, Agenesis of pineal gland, Short stature, Co...	ORPHA:536471
Developmental And Speech Delay Due To Sox5 Deficiency	Self-injurious behavior, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder...	ORPHA:313892
Cog2-Cdg	Decreased circulating ceruloplasmin concentration, Decreased circulating copper concentration, Sm...	ORPHA:435934
Ollier Disease	Skin ulcer	ORPHA:296
Campomelic Dysplasia	11 pairs of ribs, Bowing of the long bones, Small abnormally formed scapulae, Micrognathia, Hip d...	ORPHA:140
Tremor, Nystagmus, And Duodenal Ulcer	Tremor, Kinetic tremor	OMIM:190310
African Trypanosomiasis	Pericarditis, Alopecia, Somatic sensory dysfunction, Akinesia, Aggressive behavior, Keratitis, My...	ORPHA:3385
Mucopolysaccharidosis, Type Vi	Short stature, Pneumonia, Corneal opacity, Disproportionate short-trunk short stature, Hirsutism,...	OMIM:253200
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Cataract, Corneal opacity, Elevated circulating creatine kinase concentration, Cryptorchidism, Bu...	OMIM:236670
Congenital Disorder Of Glycosylation, Type Iiq	Decreased circulating ceruloplasmin concentration, Decreased circulating copper concentration, Sm...	OMIM:617395
Pyruvate Carboxylase Deficiency	Anorexia, Tremor, Compulsive behaviors, Hypoglutaminemia, Ataxia, Elevated plasma citrulline, Hyp...	ORPHA:3008
Schneckenbecken Dysplasia	Hypoplastic scapulae, Increased fibular diameter, Dumbbell-shaped long bone, Micromelia, Hypoplas...	ORPHA:3144
Rett Syndrome	Dystonia, Short stature, Cachexia, Gait apraxia, Truncal ataxia, Gait ataxia, Bruxism, Stereotypi...	OMIM:312750
Letterer-Siwe Disease	Stomatitis, Pallor, Seborrheic dermatitis	OMIM:246400
Carney Complex, Type 1	Elevated circulating growth hormone concentration, Pituitary adenoma, Pheochromocytoma, Multiple ...	OMIM:160980
Leprechaunism	Hepatomegaly, Enlarged ovaries, Long penis, Hypercalciuria, Nephrocalcinosis, Large hands, Long f...	ORPHA:508
Robin Sequence With Distinctive Facial Appearance And Brachydactyly	Posteriorly rotated ears, Corneal opacity, Sensorineural hearing impairment, Synophrys, Cafe-au-l...	OMIM:608670
Intellectual Developmental Disorder, Autosomal Recessive 71	Cryptorchidism, Macrotia, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder	OMIM:618504
3P25.3 Microdeletion Syndrome	Ataxia, Abnormal repetitive mannerisms, Sensorineural hearing impairment, Attention deficit hyper...	ORPHA:435638
Turner Syndrome Due To Structural X Chromosome Anomalies	Hypoplastic toenails, Gastrointestinal inflammation, Hyperconvex fingernails, Inflammation of the...	ORPHA:99413
Mosaic Monosomy X	Hypoplastic toenails, Gastrointestinal inflammation, Hyperconvex fingernails, Inflammation of the...	ORPHA:99228
Monosomy X	Hypoplastic toenails, Gastrointestinal inflammation, Hyperconvex fingernails, Inflammation of the...	ORPHA:99226
Turner Syndrome	Hypoplastic toenails, Gastrointestinal inflammation, Hyperconvex fingernails, Inflammation of the...	ORPHA:881
Neurodegeneration With Brain Iron Accumulation 4	Generalized dystonia, Ataxia, Parkinsonism, Tremor, Babinski sign, Abnormal pyramidal sign, Abnor...	OMIM:614298
Fish-Eye Disease	Decreased HDL cholesterol concentration, Corneal opacity	ORPHA:79292
Albinism, Oculocutaneous, Type Ia	Hypopigmentation of hair, Albinism, Absent skin pigmentation, White hair, Blue irides, Ocular alb...	OMIM:203100
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Cataract, Corneal opacity, Leukocoria, Uveitis, Microcornea, Buphthalmos, Shallow anterior chambe...	OMIM:221900
Chromosome 8Q21.11 Deletion Syndrome	Cataract, Sclerocornea, Cryptorchidism, Sensorineural hearing impairment, Protruding ear, Growth ...	OMIM:614230
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies	Highly arched eyebrow, Supernumerary nipple, Cryptorchidism, Obesity, Anisocoria, Low-set ears, D...	OMIM:618653
Trichotillomania	Hair-pulling, Alopecia, Compulsive behaviors	OMIM:613229
Cerebroretinal Microangiopathy With Calcifications And Cysts 1	Bowing of the long bones, Ataxia, Tremor, Metaphyseal sclerosis, Abnormal pyramidal sign, Genu va...	OMIM:612199
Parkinson Disease 20, Early-Onset	Eyelid apraxia, Involuntary movements, Parkinsonism, Tremor, Rigidity, Leg muscle stiffness, Brad...	OMIM:615530
Acquired Purpura Fulminans	Pyoderma gangrenosum, Skin rash, Elevated circulating C-reactive protein concentration, Macular p...	ORPHA:49566
Osteogenesis Imperfecta	Mixed hearing impairment, Somatic sensory dysfunction, Small for gestational age, Short stature, ...	ORPHA:666
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Abnormality of retinal pigmentation, Severe short stature, Rhizomelia, Corneal opacity, Ectopia p...	ORPHA:85167
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome	Aniridia, Developmental glaucoma, Short stature, Corneal opacity	ORPHA:1064
Parkinson Disease, Late-Onset	Resting tremor, Parkinsonism, Tremor, Rigidity, Bradykinesia, Dystonia	OMIM:168600
Autosomal Dominant Cutis Laxa	Redundant neck skin, Corneal opacity, Redundant skin, Postnatal growth retardation, Bronchiectasi...	ORPHA:90348
Duane Retraction Syndrome	Central heterochromia, Patchy hypopigmentation of hair, External ear malformation, Sensorineural ...	ORPHA:233
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Recurrent pneumonia, Pyoderma gangrenosum, Bronchiectasis, Recurrent aphthous stomatitis, Chronic...	OMIM:150550
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities	Hyperactivity, Failure to thrive, Posteriorly rotated ears, Cryptorchidism, Sensorineural hearing...	OMIM:619512
Chondrodysplasia Punctata, Autosomal Dominant	Cataract, Hyperkeratosis with erythema, Moderate postnatal growth retardation, Coarse hair, Spars...	OMIM:118650
Mucopolysaccharidosis Type 2	Otosclerosis, Hyperactivity, Abnormality of retinal pigmentation, Short stature, Corneal opacity,...	ORPHA:580
Mosaic Trisomy 9	Corneal opacity, Cryptorchidism, Small nail, Low-set ears, Intrauterine growth retardation	ORPHA:99776
Rett Syndrome, Congenital Variant	Dystonia, Chorea, Tongue thrusting, Protruding ear, Athetosis, Bruxism, Abnormal repetitive manne...	OMIM:613454
Plague	Chapped lip, Skin rash, Mydriasis, Anorexia, Erythema nodosum, Lymphadenitis, Unsteady gait, Ente...	ORPHA:707
Gaucher Disease	Osteomyelitis, Short stature, Ataxia, Elevated circulating C-reactive protein concentration, Corn...	ORPHA:355
Mucopolysaccharidosis Type 6	Sinusitis, Disproportionate short-trunk short stature, Opacification of the corneal stroma, Chron...	ORPHA:583
Granulomatosis With Polyangiitis	Increased inflammatory response, Pericarditis, Sinusitis, Skin rash, Elevated circulating C-react...	ORPHA:900
Dietary Iron Overload Disease	Viral hepatitis, Increased circulating ferritin concentration, Peritonitis, Elevated transferrin ...	ORPHA:139507
Linear Nevus Sebaceus Syndrome	Alopecia, Melanocytic nevus, Growth delay, Adenoma sebaceum, Irregular hyperpigmentation, Iris co...	ORPHA:2612
Wolf-Hirschhorn Syndrome	Low-set, posteriorly rotated ears, Ataxia, Megalocornea, Highly arched eyebrow, Sclerocornea, Cry...	ORPHA:280
Doors Syndrome	11 pairs of ribs, Ambiguous genitalia, Adrenal hyperplasia, Aplasia/Hypoplasia of the phalanges o...	ORPHA:79500
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies	Hypopigmentation of the skin, Posteriorly rotated ears, Aggressive behavior, Synophrys, Myopic as...	OMIM:301066
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia	Highly arched eyebrow, Impaired pain sensation, Cryptorchidism, Long eyelashes, Attention deficit...	OMIM:619005
Attenuated Chédiak-Higashi Syndrome	Generalized hypopigmentation, Ocular albinism, Skin ulcer	ORPHA:352723
Meacham Syndrome	Enlarged kidney, Horseshoe kidney	OMIM:608978
Epithelial Recurrent Erosion Dystrophy	Subepithelial corneal opacities, Corneal dystrophy, Irregular astigmatism, Corneal scarring, Kera...	ORPHA:293381
Williams Syndrome	Elevated circulating creatine kinase concentration, Redundant skin, Hypoplastic toenails, Tremor,...	ORPHA:904
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)	Pain insensitivity, Broad-based gait, Short stature, Ataxia, Osteomyelitis leading to amputation ...	OMIM:256810
1P36 Deletion Syndrome	Low-set, posteriorly rotated ears, Abnormal eyebrow morphology, Cataract, Short stature, Cryptorc...	ORPHA:1606
Oromandibular Dystonia	Torticollis, Generalized dystonia, Bruxism, Dysphagia, Weight loss, Blepharospasm, Limb dystonia,...	ORPHA:93958
Idiopathic Copper-Associated Cirrhosis	Increased circulating copper concentration, Decreased circulating ceruloplasmin concentration	ORPHA:209919
Aromatic L-Amino Acid Decarboxylase Deficiency	Torticollis, Exaggerated startle response, Oculogyric crisis, Tongue thrusting, Limb tremor, Hype...	OMIM:608643
Infantile Systemic Hyalinosis	Severe short stature, Skin ulcer, Polycystic ovaries, Growth delay, Failure to thrive, Hyperpigme...	ORPHA:2176
Congenital Dyserythropoietic Anemia Type Iii	Short stature, Increased serum iron, Pallor, Increased total iron binding capacity, Hyperbilirubi...	ORPHA:98870
Immunoglobulin A Vasculitis	Episcleritis, Skin rash, Anorexia, Orchitis, Pustule, Erythema, Skin ulcer, Arthritis, Infectious...	ORPHA:761
Boomerang Dysplasia	Absent radius, Hypoplastic iliac body, Fibular aplasia	OMIM:112310
Arboleda-Tham Syndrome	Anteverted ears, Bilateral cryptorchidism, Conjunctivitis, Chronic otitis media, Small earlobe, S...	OMIM:616268
Granulomatosis With Polyangiitis	Episcleritis, Sinusitis, Keratitis, Uveitis, Weight loss, Skin ulcer, Conjunctivitis, Chronic oti...	OMIM:608710
Proteasome-Associated Autoinflammatory Syndrome 1	Decreased HDL cholesterol concentration, Elevated circulating C-reactive protein concentration, P...	OMIM:256040
Roberts Syndrome	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Cataract, Brachydactyly, Bowing of the long b...	ORPHA:3103
Oculoauricular Syndrome	Cataract, Sclerocornea, Developmental cataract, Microcornea, Stenosis of the external auditory ca...	OMIM:612109
Pearson Syndrome	Decreased response to growth hormone stimulation test, Hypocalcemia, Hypothyroidism, Hypoparathyr...	ORPHA:699
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3	Low anterior hairline, Thickened helices, Self-mutilation, Short stature, Ataxia, Low-set ears, B...	OMIM:619950
Chronic Granulomatous Disease	Sinusitis, Eczema, Hypermelanotic macule, Skin ulcer, Otitis media, Inflammatory abnormality of t...	ORPHA:379
Adult-Onset Autosomal Dominant Leukodystrophy	Ataxia, Clonus, Upper limb postural tremor, Action tremor, Tremor, Head titubation, Babinski sign...	ORPHA:99027
Adult-Onset Dystonia-Parkinsonism	Eyelid apraxia, Tremor, Rigidity, Parkinsonism with favorable response to dopaminergic medication...	ORPHA:199351
Al-Gazali Syndrome	Failure to thrive, Recurrent pneumonia, Corneal opacity, Sclerocornea	OMIM:609465
Diffuse Cutaneous Systemic Sclerosis	Arthritis, Xerostomia, Skin ulcer, Dysphagia	ORPHA:220393
Neuropathy, Hereditary Sensory, With Spastic Paraplegia, Autosomal Recessive	Foot osteomyelitis, Decreased circulating apolipoprotein B concentration, Distal sensory impairme...	OMIM:256840
Pitt-Hopkins-Like Syndrome 1	Hyperactivity, Ataxia, Aggressive behavior, Attention deficit hyperactivity disorder, Abnormal re...	OMIM:610042
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Sclerocornea, Cryptorchidism, Growth delay, Iris coloboma, Hearing impairment	ORPHA:77298
Distal Deletion 19P	Low-set, posteriorly rotated ears, Alopecia, Sensorineural hearing impairment, Conductive hearing...	ORPHA:96129
Foxg1 Syndrome Due To 14Q12 Microdeletion	Growth delay, Abnormal antihelix morphology, Abnormal repetitive mannerisms, Protruding ear	ORPHA:261144
Kinsship Syndrome	Short stature, Synophrys, Low-set ears, Bruxism, Failure to thrive, Abnormal repetitive mannerism...	OMIM:619297
Macrocephaly-Developmental Delay Syndrome	Abnormal speech discrimination, Self-injurious behavior, Recurrent pneumonia, Abnormal repetitive...	ORPHA:397612
Familial Multiple Nevi Flammei	Irregular hyperpigmentation, Hypermelanotic macule, Skin ulcer	ORPHA:624
Autosomal Dominant Severe Congenital Neutropenia	Recurrent skin infections, Pneumonia, Pyoderma gangrenosum, Rhinitis, Periodontitis, Recurrent ap...	ORPHA:486
Larsen Syndrome	Short stature, Short nail, Corneal opacity, Cryptorchidism, Conductive hearing impairment, Intrau...	OMIM:150250
Sponastrime Dysplasia	Delayed epiphyseal ossification, Metaphyseal widening, Osteopathia striata, Coxa vara, Ivory epip...	ORPHA:93357
Anterior Segment Dysgenesis 6	Corneal opacity, Abnormal Descemet membrane morphology, Developmental glaucoma, Posterior synechi...	OMIM:617315
Cataract 31, Multiple Types	Posterior subcapsular cataract, Anterior subcapsular cataract, Nuclear cataract	OMIM:605387
X-Linked Intellectual Disability, Cantagrel Type	Abnormal repetitive mannerisms	ORPHA:85277
Localized Scleroderma	Fasciitis, Abnormal skin adnexa morphology, Erythema, Hypopigmented skin patches, Uveitis, Arthri...	ORPHA:90289
Meige Disease	Recurrent bacterial skin infections, Cobblestone-like hyperkeratosis, Recurrent skin infections, ...	ORPHA:90186
Sarcoidosis	Hypopigmentation of the skin, Alopecia, Hyperthyroidism, Maculopapular exanthema, Hypercalcemia, ...	ORPHA:797
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2	Tremor, Chorea, Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Progressive gait ataxia, Head ...	OMIM:606002
Steinert Myotonic Dystrophy	Alopecia, Hypercholesterolemia, Decreased response to growth hormone stimulation test, Abnormalit...	ORPHA:273
Immunodeficiency 47	Decreased circulating copper concentration, Sensorineural hearing impairment, Cutis laxa, Hyperch...	OMIM:300972
Systemic Lupus Erythematosus	Alopecia, Lupus nephritis, Discoid lupus rash, Chorea, Cheilitis, Arthritis, Malar rash, Serositis	ORPHA:536
Bloom Syndrome	Skin rash, Pneumonia, Sparse eyelashes, Small for gestational age, Paronychia, Cheilitis, Uveitis...	ORPHA:125
Granular Corneal Dystrophy Type Ii	Subepithelial corneal opacities, Central opacification of the cornea, Recurrent corneal erosions,...	ORPHA:98963
Dermatomyositis	Abnormal hair quantity, Pericarditis, Pruritus, Myocarditis, Erythema, Skin ulcer, Weight loss, A...	ORPHA:221
Dpagt1-Cdg	Ataxia, Hearing impairment, Aggressive behavior, Tremor, Inability to walk, Akinesia, Head-bangin...	ORPHA:86309
Cerebral Amyloid Angiopathy, Itm2B-Related, 1	Tremor, Spasticity, Hypertonia, Rigidity	OMIM:176500
Coffin-Siris Syndrome 12	Synophrys, Low anterior hairline, Protruding ear, Hypothyroidism, Abnormal repetitive mannerisms,...	OMIM:619325
Carpenter Syndrome 1	Abnormal pinna morphology, Short stature, Cryptorchidism, Sensorineural hearing impairment, Obesi...	OMIM:201000
Stromme Syndrome	Cataract, Sclerocornea, Microcornea, Stillbirth, Low-set ears, Peters anomaly, Iris coloboma	OMIM:243605
Cushing Syndrome Due To Ectopic Acth Secretion	Adrenal hyperplasia, Pancreatoblastoma, Pituitary corticotropic cell adenoma, Neoplasm of the thy...	ORPHA:99889
Complement Component 5 Deficiency	Generalized seborrheic dermatitis	OMIM:609536
Fryns Syndrome	Low-set, posteriorly rotated ears, Cryptorchidism, Corneal opacity, Hypoplastic fingernail	ORPHA:2059
Phakomatosis Pigmentokeratotica	Cryptorchidism, Hyperhidrosis, Melanocytic nevus, Patchy alopecia, Pheochromocytoma, Hyperesthesi...	ORPHA:2874
Lmna-Related Cardiocutaneous Progeria Syndrome	Absent eyebrow, Hypertriglyceridemia, Absent eyelashes, Premature graying of hair, Sparse hair, H...	ORPHA:363618
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Cataract, Sutural cataract, Highly arched eyebrow, Frontal balding, Tremor, Sensorineural hearing...	OMIM:612474
Bile Acid Synthesis Defect, Congenital, 5	Increased serum bile acid concentration, Increased total iron binding capacity, Hyperbilirubinemia	OMIM:616278
Congenital Primary Aphakia	Congenital aphakia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Sclerocornea	ORPHA:83461
Smith-Lemli-Opitz Syndrome	Low-set, posteriorly rotated ears, Hypopigmentation of hair, Cataract, Short stature, Rhizomelia,...	ORPHA:818
Monosomy 22Q13.3	Hyperactivity, Recurrent skin infections, Impaired pain sensation, Hypoplastic toenails, Hair-pul...	ORPHA:48652
Epidermolysis Bullosa, Junctional 2C, Laryngoonychocutaneous	Symblepharon, Recurrent loss of toenails and fingernails, Skin ulcer, Nail dystrophy, Corneal pte...	OMIM:245660
Uremic Pruritus	Inflammatory abnormality of the skin, Recurrent skin infections, Hypercalcemia, Renal hypophospha...	ORPHA:94059
Cataract 15, Multiple Types	Lamellar cataract, Nuclear cataract, Cortical cataract	OMIM:615274
Cataract 33, Multiple Types	Lamellar cataract, Nuclear cataract, Cortical cataract	OMIM:611391
Infantile Nephropathic Cystinosis	Abnormality of thyroid physiology, Abnormal blood ion concentration, Corneal crystals, Growth del...	ORPHA:411629
Gelatinous Drop-Like Corneal Dystrophy	Subepithelial corneal opacities, Central opacification of the cornea, Blepharospasm, Conjunctival...	ORPHA:98957
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Hyperactivity, Cataract, Short stature, Pneumonia, Impulsivity, Aggressive behavior, Cryptorchidi...	ORPHA:353281
Granular Corneal Dystrophy Type I	Subepithelial corneal opacities, Abnormal corneal epithelium morphology, Central opacification of...	ORPHA:98962
Otopalatodigital Syndrome, Type Ii	Congenital hip dislocation, Micrognathia, Short metatarsal, Femoral bowing, Tibial bowing, Short ...	OMIM:304120
Autism, Susceptibility To, 3	Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines	OMIM:608049
Campomelic Dysplasia	Anterior tibial bowing, Micrognathia, Delayed epiphyseal ossification, Patellar hypoplasia, Femor...	OMIM:114290
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Few cafe-au-lait spots, Nail-biting, Pain insensitivity, Broad-based gait, Posteriorly rotated ea...	OMIM:620330
Oculoectodermal Syndrome	Hyperactivity, Supernumerary nipple, Hyperpigmented streaks, Pineal cyst, Growth delay, Microcorn...	OMIM:600268
Persistent Hyperplastic Primary Vitreous	Cataract, Corneal opacity, Leukocoria, Developmental cataract, Microcornea, Buphthalmos, Shallow ...	ORPHA:91495
Degcags Syndrome	Oral-pharyngeal dysphagia, Synophrys, Low anterior hairline, Premature graying of hair, Abnormali...	OMIM:619488
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome	Broad-based gait, Repetitive compulsive behavior, Abnormal Eustachian tube morphology, Pineal cys...	ORPHA:513456
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type	Atresia of the external auditory canal, Opacification of the corneal stroma	OMIM:601356
Lowe Oculocerebrorenal Syndrome	Short stature, Elevated circulating creatine kinase concentration, Elevated maternal serum alpha-...	OMIM:309000
Intellectual Developmental Disorder, Autosomal Dominant 38	Ataxia, Aggressive behavior, Hair-pulling, Self-injurious behavior, Low-set ears, Bruxism, Abnorm...	OMIM:616393
Catastrophic Antiphospholipid Syndrome	Myocarditis, Chorea, Skin ulcer, Arthritis	ORPHA:464343
Occipital Horn Syndrome	Decreased circulating ceruloplasmin concentration, Decreased circulating copper concentration, Re...	OMIM:304150
Okur-Chung Neurodevelopmental Syndrome	Failure to thrive, Ataxia, Highly arched eyebrow, Synophrys, Cupped ear, Low-set ears, Attention ...	OMIM:617062
Orofaciodigital Syndrome Type 4	Decreased testicular size, Finger syndactyly, Monorchism, Camptodactyly of finger, Micromelia, Mi...	ORPHA:2753
Waardenburg Syndrome, Type 4C	White eyelashes, White eyebrow, Cryptorchidism, Sensorineural hearing impairment, Blue irides, Hy...	OMIM:613266
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Otitis media, Compulsive behaviors, Conductive hearing impairment, Abnormal repetitive mannerisms...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Otitis media, Compulsive behaviors, Conductive hearing impairment, Abnormal repetitive mannerisms...	ORPHA:353277
Orofaciodigital Syndrome I	Alopecia, Dry hair, Short stature, Pancreatic cysts, Ovarian cyst, Low-set ears, Sparse hair, Hea...	OMIM:311200
Encephalocraniocutaneous Lipomatosis	Abnormal eyelash morphology, Alopecia, Corneal opacity, Iris coloboma	ORPHA:2396
Wiskott-Aldrich Syndrome	Sinusitis, Eczema, Keratitis, Skin ulcer, Arthritis, Inflammation of the large intestine, Conjunc...	ORPHA:906
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Short stature, Hearing impairment, Hypertrichosis, Abnormal repetitive mannerisms, Iris coloboma,...	ORPHA:508498
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome	Opacification of the corneal stroma, Small for gestational age, Short stature	OMIM:215250
Axenfeld-Rieger Syndrome, Type 2	Cryptorchidism, Microcornea, Opacification of the corneal stroma, Anterior chamber synechiae, Hea...	OMIM:601499
Wolf-Hirschhorn Syndrome	Rieger anomaly, Abnormal pinna morphology, Small for gestational age, Highly arched eyebrow, Shor...	OMIM:194190
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Posteriorly rotated ears, Postnatal growth retardation, Cryptorchidism, Sensorineural hearing imp...	OMIM:301040
Juvenile Nephropathic Cystinosis	Hyponatremia, Hypouricemia, Elevated circulating creatinine concentration, Corneal crystals, Grow...	ORPHA:411634
Macular Corneal Dystrophy	Hyperopic astigmatism, Corneal crystals, Punctate opacification of the cornea, Recurrent corneal ...	ORPHA:98969
Alzahrani-Kuwahara Syndrome	Cataract, Posteriorly rotated ears, Eczema, Short stature, Dry skin, Astigmatism, Tip-toe gait, L...	OMIM:619268
Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency	Cerebral palsy, Oculogyric crisis, Parkinsonism, Maturity-onset diabetes of the young, Tremor, Hy...	ORPHA:1578
Autosomal Recessive Robinow Syndrome	Low-set, posteriorly rotated ears, Alopecia, Cryptorchidism, Long eyelashes, Fingernail dysplasia...	ORPHA:1507
Peters Plus Syndrome	Low-set, posteriorly rotated ears, Cataract, Short stature, Rhizomelia, Corneal opacity, Postnata...	ORPHA:709
Charge Syndrome	Decreased response to growth hormone stimulation test, External genital hypoplasia, Micrognathia,...	OMIM:214800
Histiocytoid Cardiomyopathy	Corneal opacity, Polycystic ovaries, Pallor, Megalocornea, Failure to thrive, Congenital aphakia	ORPHA:137675
Anemia, Hypochromic Microcytic, With Iron Overload 1	Increased serum iron, Elevated hepatic iron concentration	OMIM:206100
Cardiac-Urogenital Syndrome	Penoscrotal hypospadias, 2-3 toe syndactyly, Patent urachus, Micropenis, Enlarged kidney	OMIM:618280
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Low-set, posteriorly rotated ears, Severe short stature, Eczema, Cryptorchidism, Self-injurious b...	ORPHA:468631
Aniridia 1	Anterior subcapsular cataract, Cataract, Ectopia lentis, Corneal erosion, Hypoplasia of the iris,...	OMIM:106210
Familial Adenomatous Polyposis 4	Ovarian cyst, Uterine leiomyoma, Thyroid adenoma	OMIM:617100
Malakoplakia	Inflammatory abnormality of the skin, Skin rash, Pruritus, Orchitis, Urinary bladder inflammation...	ORPHA:556
Spondyloepiphyseal Dysplasia Tarda, X-Linked	Hip osteoarthritis, Postnatal growth retardation, Disproportionate short-trunk short stature, Opa...	OMIM:313400
Galactosialidosis	Conjunctival telangiectasia, Severe short stature, Opacification of the corneal stroma, Hearing i...	OMIM:256540
Mucopolysaccharidosis Type 7	Corneal opacity, Hepatitis	ORPHA:584
Autosomal Dominant Robinow Syndrome	Alopecia, Severe short stature, Posteriorly rotated ears, Short stature, Curly eyelashes, Cryptor...	ORPHA:3107
Mucopolysaccharidosis, Type Iva	Waddling gait, Recurrent pneumonia, Disproportionate short-trunk short stature, Opacification of ...	OMIM:253000
Yunis-Varon Syndrome	Sparse scalp hair, Redundant neck skin, Abnormal pinna morphology, Sparse eyelashes, Short statur...	ORPHA:3472
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type	Hyperactivity, Posteriorly rotated ears, Small for gestational age, Short stature, Cryptorchidism...	OMIM:309590
Hypoplasminogenemia	Cervicitis, Abnormality of the ovary, Abnormal fallopian tube morphology	ORPHA:722
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis	Bifid scrotum, Fused labia majora, Decreased circulating cortisol level, Small scrotum, Femoral b...	OMIM:201750
Developmental And Epileptic Encephalopathy 100	Synophrys, Chorea, Gait ataxia, Choreoathetosis, Dysphagia, Abnormal repetitive mannerisms, Hypop...	OMIM:619777
Rutherfurd Syndrome	Corneal dystrophy, Opacification of the corneal stroma	OMIM:180900
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Decreased response to growth hormone stimulation test, Synophrys, Facial erythema, Hypocalcemia, ...	OMIM:619503
Neurodegeneration With Brain Iron Accumulation 1	Eyelid apraxia, Ataxia, Parkinsonism, Acanthocytosis, Tremor, Rigidity, Abnormal foot morphology,...	OMIM:234200
Coloboma, Ocular, Autosomal Dominant	Growth delay, Corneal opacity, Peters anomaly	OMIM:120200
Lathosterolosis	Cataract, Microcornea, Opacification of the corneal stroma, Intrauterine growth retardation, Fail...	ORPHA:46059
Joubert Syndrome 6	Abnormal repetitive mannerisms, Bile duct proliferation, Ataxia	OMIM:610688
Fraser Syndrome 1	Absent eyebrow, Abnormal pinna morphology, Corneal opacity, Absent eyelashes, Cryptorchidism, Cup...	OMIM:219000
Tsh-Secreting Pituitary Adenoma	Tremor, Elevated circulating thyroid-stimulating hormone concentration, Male hypogonadism, Period...	ORPHA:91347
Ring Chromosome 13 Syndrome	Alopecia, Hypoplasia of the gallbladder, Posteriorly rotated ears, Growth delay, Abnormality of s...	ORPHA:96176
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Alopecia, Short stature, Abdominal obesity, Hypoplasia of the ovary, Azotemia, Intrauterine growt...	OMIM:619321
Microphthalmia, Syndromic 3	Cataract, Short stature, Anterior pituitary hypoplasia, Sclerocornea, Postnatal growth retardatio...	OMIM:206900
Cranioectodermal Dysplasia 1	Hepatomegaly, Brachydactyly, Broad toe, Rhizomelia, Short humerus, Broad distal phalanges of all ...	OMIM:218330
Corneal Endothelial Dystrophy	Abnormal Descemet membrane morphology, Increased corneal thickness, Corneal dystrophy, Opacificat...	OMIM:217700
Menkes Disease	Hypopigmentation of hair, Osteomyelitis, Chorea, Sparse hair, Woolly hair, Dry skin, Intrauterine...	ORPHA:565
Leukocyte Adhesion Deficiency	Sinusitis, Severe periodontitis, Pneumonia, Osteomyelitis, Recurrent skin infections, Perianal ab...	ORPHA:2968
Choreoacanthocytosis	Elevated circulating creatine kinase concentration, Chorea, Compulsive behaviors, Limb dystonia, ...	ORPHA:2388
Yunis-Varon Syndrome	Redundant neck skin, Sclerocornea, Palmoplantar hyperkeratosis, Protruding ear, Absent fingernail...	OMIM:216340
Linear Skin Defects With Multiple Congenital Anomalies 1	Cataract, Short stature, Sclerocornea, Pigmentary retinopathy, Peters anomaly, Iris coloboma, Hea...	OMIM:309801
Autosomal Dominant Optic Atrophy And Cataract	Anterior subcapsular cataract, Cataract, Posterior cortical cataract, Cerulean cataract, Anterior...	ORPHA:67036
Mucolipidosis Iii Alpha/Beta	Opacification of the corneal stroma, Short stature, Increased serum beta-hexosaminidase, Hyperopi...	OMIM:252600
Leukocyte Adhesion Deficiency, Type I	Osteomyelitis, Elevated circulating C-reactive protein concentration, Skin ulcer, Chronic mucocut...	OMIM:116920
Autosomal Recessive Faciodigitogenital Syndrome	Hypopigmentation of hair, Dry hair, Posteriorly rotated ears, Short stature, Widow's peak, Coarse...	ORPHA:1974
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Exaggerated startle response, Dystonia, Short stature, Broad-based gait, Decreased serum iron, Cr...	ORPHA:438213
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome	Hyperactivity, Hair-pulling, Synophrys, Protruding ear, Low-set ears, Dysphagia, Abnormal repetit...	ORPHA:447997
Pierson Syndrome	Diffuse mesangial sclerosis, Rieger anomaly, Cataract, Hypoplasia of the ciliary body, Proteinuri...	OMIM:609049
Mucopolysaccharidosis Type 2, Severe Form	Otosclerosis, Abnormality of retinal pigmentation, Short stature, Corneal opacity, Sensorineural ...	ORPHA:217085
Townes-Brocks Syndrome	Hypoplasia of penis, Ectopic kidney, Triphalangeal thumb, Vesicoureteral reflux, Clinodactyly of ...	ORPHA:857
Roberts-Sc Phocomelia Syndrome	Cataract, Abnormal pinna morphology, Posteriorly rotated ears, Corneal opacity, Postnatal growth ...	OMIM:268300
Familial Keratoacanthoma	Hyperkeratosis, Adenoma sebaceum, Skin ulcer	ORPHA:493
Linear Skin Defects With Multiple Congenital Anomalies 3	Sclerocornea, Failure to thrive, Hyperpigmented streaks, Thyroid C cell hyperplasia	OMIM:300952
Childhood Disintegrative Disorder	Abnormal repetitive mannerisms	ORPHA:168782
Mucopolysaccharidosis Type 2, Attenuated Form	Otosclerosis, Abnormality of retinal pigmentation, Short stature, Corneal opacity, Sensorineural ...	ORPHA:217093
Microphthalmia, Syndromic 16	Sclerocornea	OMIM:611038
Simple Cryoglobulinemia	Viral hepatitis, Pericarditis, Membranoproliferative glomerulonephritis, Weight loss, Arthritis, ...	ORPHA:91139
Acute Transverse Myelitis	Impaired vibratory sensation, Somatic sensory dysfunction, Decreased circulating copper concentra...	ORPHA:139417
Amyloidosis Of Gingiva And Conjunctiva With Impaired Intellectual Development	Opacification of the corneal stroma	OMIM:204850
Pallister-Killian Syndrome	Hyperpigmented streaks, Hypopigmented streaks, Sparse hair, Hypopigmentation of the skin, Alopeci...	OMIM:601803
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects	Posteriorly rotated ears, Highly arched eyebrow, Synophrys, Low anterior hairline, Growth delay, ...	OMIM:301044
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy	Paroxysmal dystonia, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder	ORPHA:98784
Posterior-Predominant Lissencephaly-Broad Flat Pons And Medulla-Midline Crossing Defects Syndrome	Abnormal repetitive mannerisms, Dysphagia	ORPHA:572013
Van Den Ende-Gupta Syndrome	Abnormal eyebrow morphology, Posteriorly rotated ears, Sclerocornea, Overfolded helix, Protruding...	OMIM:600920
Ulbright-Hodes Syndrome	Abnormal penis morphology, Short humerus, Short metacarpal, Abnormal external genitalia, Enlarged...	ORPHA:3404
Vascular Ehlers-Danlos Syndrome	Keratoconus, Alopecia, Short stature, Redundant skin, Abnormality of hair texture, Abnormal eyela...	ORPHA:286
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Inability to walk, Disproportionate short stature, Recurrent pneumonia, Opisthotonus, Abnormal re...	ORPHA:508533
Pelvis-Shoulder Dysplasia	Short stature, Iris coloboma, Opacification of the corneal stroma	OMIM:169550
Squamous Cell Carcinoma Of The Anal Canal	Skin ulcer	ORPHA:424019
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii	Alopecia, Severe short stature, Posteriorly rotated ears, Cryptorchidism, Loss of eyelashes, Abno...	ORPHA:2636
Viss Syndrome	Exostosis of the external auditory canal, Chronic gastritis, Sparse scalp hair, Alopecia, Posteri...	OMIM:619472
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies	Limb dystonia, Corneal opacity, Elevated circulating creatine kinase concentration, Polycoria, De...	OMIM:175780
Mosaic Trisomy 1	Abnormal pinna morphology, Hypoplastic thumbnail, Opacification of the corneal stroma, Small nail...	ORPHA:1692
Proximal Renal Tubular Acidosis	Hyperphosphaturia, Cataract, Band keratopathy, Bicarbonaturia, Bicarbonate-wasting renal tubular ...	ORPHA:47159
Niemann-Pick Disease, Type C2	Dystonia, Abnormal repetitive mannerisms, Ataxia, Dysphagia	OMIM:607625
Van Esch-O'Driscoll Syndrome	Short stature, Impulsivity, Protruding ear, Growth delay, Microtia, Attention deficit hyperactivi...	OMIM:301030
Lathosterolosis	Cataract, Bilobate gallbladder, Growth delay, Abnormal circulating cholesterol concentration, Hyp...	OMIM:607330
Fryns Syndrome	Ectopic pancreatic tissue, Large for gestational age, Cryptorchidism, Stillbirth, Abnormal helix ...	OMIM:229850
Anterior Segment Dysgenesis 1	Microcornea, Opacification of the corneal stroma, Peters anomaly, Posterior polar cataract, Ocula...	OMIM:107250
Parkes Weber Syndrome	Somatic sensory dysfunction, Skin ulcer, Distal sensory impairment, Scaling skin, Abnormal B-type...	ORPHA:90307
Proboscis Lateralis	Abnormal eyebrow morphology, Cataract, Abnormal location of the eyebrow, Corneal opacity, Microco...	ORPHA:141099
Focal Dermal Hypoplasia	Ridged nail, Linear hyperpigmentation, Brittle hair, Absent fingernail, Sparse hair, Hypopigmenta...	OMIM:305600
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome	Cryptorchidism, Unsteady gait, Nail dysplasia, Sparse hair, Loss of ambulation, Abnormal repetiti...	OMIM:616682
Phace Syndrome	Cataract, Sclerocornea, Lens coloboma, Ectopic thyroid, Iris coloboma, Hypothyroidism, Heterochro...	ORPHA:42775
Childhood Absence Epilepsy	Punding, Pallor, Attention deficit hyperactivity disorder	ORPHA:64280
Apolipoprotein A-I Deficiency	Decreased HDL cholesterol concentration, Abnormal circulating lipid concentration, Opacification ...	ORPHA:425
Developmental And Epileptic Encephalopathy 2	Inability to walk, Abnormal repetitive mannerisms	OMIM:300672
Osteopathia Striata With Cranial Sclerosis	Multicystic kidney dysplasia, Paranasal sinus hypoplasia, Arachnodactyly, Micrognathia, Osteopath...	OMIM:300373
Mowat-Wilson Syndrome	Uplifted earlobe, Conductive hearing impairment, Abnormal repetitive mannerisms, Iris coloboma, S...	ORPHA:2152
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related	Repetitive compulsive behavior, Hypersexuality, Agitation, Disinhibition, Polyphagia	OMIM:607485
Retinitis Pigmentosa And Erythrocytic Microcytosis	Pallor, Decreased serum iron	OMIM:616959
Meckel Syndrome	Low-set, posteriorly rotated ears, Cataract, Pancreatic fibrosis, Sclerocornea, Pancreatic cysts,...	ORPHA:564
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities	Exaggerated startle response, Posteriorly rotated ears, Short stature, Hypoplastic toenails, Cryp...	OMIM:619522
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Uplifted earlobe, Abnormal pupil morphology, Microcornea, Abnormal repetitive mannerisms, Iris co...	ORPHA:261552
Microphthalmia, Syndromic 6	Failure to thrive, Posteriorly rotated ears, Uplifted earlobe, Sclerocornea, Cryptorchidism, Prot...	OMIM:607932
Alpha-N-Acetylgalactosaminidase Deficiency Type 2	Vertigo, Hyperkeratosis, Opacification of the corneal stroma, Tinnitus, Hearing impairment	ORPHA:79280
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Broad-based gait, Cataract, Posteriorly rotated ears, Short stature, Uplifted earlobe, Impaired p...	ORPHA:261537
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Cataract, Hypospadias, Micrognathia, Small hand, Horseshoe kidney, Fibular hypoplasia, Hypoplasia...	ORPHA:444077
Nmda Receptor Encephalitis	Ovarian teratoma, Dystonia, Oculogyric crisis, Hypersexuality, Chorea, Opisthotonus, Choreoatheto...	ORPHA:217253
Adams-Oliver Syndrome 1	Alopecia, Small nail, Supernumerary nipple	OMIM:100300
Tuberous Sclerosis Complex	Hyperactivity, Impulsivity, Aggressive behavior, Repetitive compulsive behavior, Pituitary adenom...	ORPHA:805
Dermochondrocorneal Dystrophy	Subepithelial corneal opacities, Corneal dystrophy, Anterior cortical cataract	OMIM:221800
Limb Body Wall Complex	Lens subluxation, Corneal opacity, Iris coloboma	ORPHA:2369
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Cataract, Elevated circulating creatine kinase concentration, Buphthalmos, Pallor, Opacification ...	OMIM:253280
Split Cord Malformation	Tufted hairs, Penetrating foot ulcers, Hyperpigmentation of the skin, Hypertrichosis	ORPHA:573278
Paroxysmal Nocturnal Hemoglobinuria	Decreased serum iron, Conjunctival icterus, Dysphagia, Unconjugated hyperbilirubinemia, Increased...	ORPHA:447
Gaucher Disease, Type Iiic	Opacification of the corneal stroma	OMIM:231005
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13	Opacification of the corneal stroma, Decreased testicular size, Elevated circulating creatine kin...	OMIM:615287
Adenocarcinoma Of The Anal Canal	Skin ulcer	ORPHA:424016

Histopathology

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

There is no histopathology data for Slc30a4

This gene doesn't have any significant Histopathology hits. Please click here to see the raw data.

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 Slc30a4.

No publications found that use IMPC mice or data for Slc30a4.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele	Allele Type	Produced
Slc30a4^{tm43906(L1L2_gt1)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors
Slc30a4^{tm1e(KOMP)Wtsi}	Targeted, non-conditional allele	ES Cells
Slc30a4^{tm2a(KOMP)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Slc30a4^{tm1a(KOMP)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Slc30a4^{tm2e(KOMP)Wtsi}	Targeted, non-conditional allele	ES Cells
Slc30a4^em1(IMPC)Tcp	Exon Deletion	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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Gene: Slc30a4 MGI:1345282

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

Eye Morphology

Gross Pathology and Tissue Collection

Eye Morphology

Eye Morphology

X-ray

X-ray

X-ray

X-ray

X-ray

Histopathology

Gross Pathology and Tissue Collection

X-ray

X-ray

Eye Morphology

X-ray

Human diseases caused by Slc30a4 mutations

Histopathology

IMPC related publications

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Access Data Release 20.1 Data