Gene Summary

Name:
solute carrier family 30 (zinc transporter), member 4
Synonyms:
Znt4

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
decreased grip strength Slc30a4em1(IMPC)Tcp HOM Early adult 1.57×10-05
tremors Slc30a4em1(IMPC)Tcp HOM   Late adult 7.59×10-06
cataract Slc30a4em1(IMPC)Tcp HOM Early adult 3.45×10-05
enlarged kidney Slc30a4em1(IMPC)Tcp HOM Early adult 0.00
abnormal skin morphology Slc30a4em1(IMPC)Tcp HOM Early adult 0.00
small adrenal glands Slc30a4em1(IMPC)Tcp HOM Late adult 0.00
short tibia Slc30a4em1(IMPC)Tcp HOM Late adult 6.21×10-07
short tibia Slc30a4em1(IMPC)Tcp HOM Early adult 1.20×10-12
increased grip strength Slc30a4em1(IMPC)Tcp HOM Late adult 6.08×10-06
small thymus Slc30a4em1(IMPC)Tcp HOM Late adult 0.00
abnormal ovary morphology Slc30a4em1(IMPC)Tcp HOM Late adult 0.00

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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 Ophthalmoscopy

147 Images

Histopathology

Images

11 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

Eye Morphology

Images Slit Lamp

123 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

Eye Morphology

Images Ophthalmoscopy

92 Images

Gross Pathology and Tissue Collection

Images

8 Images

Gross Pathology and Tissue Collection

Images

9 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

Eye Morphology

Images Slit Lamp

9 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

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.

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 Similarity of
phenotypes
Matching phenotypes Source
Syndactyly Type 4
Short tibia, Camptodactyly of finger, 6 metacarpals, Triphalangeal thumb, Hand polydactyly, Foot ... ORPHA:93405
Cataract 20, Multiple Types
Membranous cataract, Cataract OMIM:116100
Optic Atrophy 2
Babinski sign, Tremor, Dysdiadochokinesis, Absent Achilles reflex OMIM:311050
Erythrokeratodermia Variabilis
Protruding ear, Generalized hirsutism, Corneal opacity, Hypermelanotic macule, Irregular hyperpig... ORPHA:317
Acromesomelic Dysplasia 2C
Distal femoral bowing, Radial bowing, Hypoplasia of the radius, Short tibia, Shortening of all pr... OMIM:201250
Acromesomelic Dysplasia 2A
Short femur, Hypoplasia of the radius, Short tibia, Short humerus, Aplasia/Hypoplasia of the pate... OMIM:200700
Congenital Non-Bullous Ichthyosiform Erythroderma
Keratitis, Failure to thrive, Alopecia, Short stature, Hypohidrosis, Corneal erosion, Pruritus, E... ORPHA:79394
Acrocapitofemoral Dysplasia
Cone-shaped epiphyses of the phalanges of the hand, Hypoplasia of the radius, Cone-shaped epiphys... OMIM:607778
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Short tibia, Micromelia, Short 3rd metacarpal, Limb undergrowth, Short 2nd metacarpal, Short 4th ... OMIM:118651
Episodic Ataxia, Type 1
Babinski sign, Incoordination, Tremor, Spastic gait, Slurred speech, Episodic ataxia OMIM:160120
Osebold-Remondini Syndrome
Carpal synostosis, Short toe, Dysplastic distal radial epiphyses, Hypoplasia of the radius, Short... OMIM:112910
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Failure to thrive, Ataxia, Perioral erythema, Short stature, Paronychia, Dry skin, Tremor, Perian... OMIM:201100
Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis
Spastic paraplegia, Tremor, Pes cavus, Palmoplantar hyperkeratosis OMIM:309560
Acromesomelic Dysplasia, Grebe Type
Short toe, Short tibia, Aplasia of the middle phalanges of the toes, Brachydactyly, Micromelia, S... ORPHA:2098
Primary Orthostatic Tremor
Tremor, Abnormality of extrapyramidal motor function ORPHA:238606
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome
Tibial bowing, Hand oligodactyly, Short tibia, Syndactyly, Foot oligodactyly, Fibular aplasia OMIM:246570
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 3
Tremor, Ataxia, Slurred speech OMIM:613227
Cataract 35
Cataract OMIM:609376
Cataract 36
Cataract OMIM:613887
Hereditary Hyperferritinemia-Cataract Syndrome
Cataract ORPHA:163
Cataract 29
Cataract OMIM:115800
Cataract 18
Cataract OMIM:610019
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development
Absent thumb, Short femur, Micropenis, Short tibia, Hypoplasia of the ulna, Aplasia/Hypoplasia of... OMIM:612447
Langer Mesomelic Dysplasia
Radial bowing, Hypoplasia of the radius, Micrognathia, Broad ulna, Short tibia, Rudimentary fibul... OMIM:249700
Fibular Hemimelia
Talipes equinovalgus, Structural foot deformity, Arthralgia of the hip, Abnormality of fibula mor... ORPHA:93323
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly
Preaxial polydactyly, Short tibia, Triphalangeal thumb, Fibular duplication, Absent tibia OMIM:188740
Endove Syndrome, Limb-Only Type
Aplasia of the distal phalanges of the toes, Short middle phalanx of the 2nd finger, Cutaneous sy... OMIM:619217
Hypertrophic Neuropathy And Cataract
Cataract OMIM:239900
Acheiropody
Aplasia of the ulna, Absent hand, Short tibia, Lower limb peromelia, Carpal bone aplasia, Short h... OMIM:200500
Graham Little-Piccardi-Lassueur Syndrome
Sparse scalp hair, Alopecia, Sparse axillary hair, Sparse pubic hair, Perifollicular hyperkeratos... ORPHA:505
Congenital Megacalycosis
Nephrolithiasis, Abnormal renal physiology, Recurrent urinary tract infections, Hematuria, Enlarg... ORPHA:93109
Primary Dystonia, Dyt27 Type
Oromandibular dystonia, Action tremor, Axial dystonia, Laryngeal dystonia, Writer's cramp, Upper ... ORPHA:464440
Leri-Weill Dyschondrosteosis
Short toe, Tibial bowing, Abnormal femoral neck morphology, Radial bowing, Coxa valga, Hypoplasia... OMIM:127300
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type
Hypoplasia of the radius, Short tibia, Pseudoarthrosis OMIM:156230
Cataract And Congenital Ichthyosis
Cataract OMIM:212400
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness
Cataract, Short thumb OMIM:274205
Hidrotic Ectodermal Dysplasia
Sparse hair, Sparse eyebrow, Alopecia, Slow-growing nails, Generalized hypotrichosis, Absent pubi... ORPHA:189
Primary Dystonia, Dyt13 Type
Torticollis, Motor stereotypy, Action tremor, Torsion dystonia, Craniofacial dystonia, Involuntar... ORPHA:98807
Tremor, Hereditary Essential, 6
Kinetic tremor, Vocal tremor, Postural tremor, Head tremor OMIM:618866
Tremor, Hereditary Essential, 5
Intention tremor, Postural tremor, Kinetic tremor, Tongue tremor OMIM:616736
Lethal Faciocardiomelic Dysplasia
Microretrognathia, Hypoplasia of the radius, Radial club hand, Short tibia, Short 5th finger, Hyp... ORPHA:1972
Gómez-López-Hernández Syndrome
Ataxia, Corneal opacity, Toenail dysplasia, Short stature, Impaired pain sensation, Low-set ears,... ORPHA:1532
Zinc Deficiency, Transient Neonatal
Eczema, Decreased serum zinc, Alopecia OMIM:608118
Spinocerebellar Ataxia Type 15/16
Ataxia, Action tremor, Tremor by anatomical site, Head tremor, Upper limb postural tremor, Gait a... ORPHA:98769
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive
Sensorineural hearing impairment, Failure to thrive, Sparse hair, Alopecia, Short stature, Fragil... OMIM:242150
Episodic Ataxia With Slurred Speech
Tremor, Gait ataxia, Slurred speech ORPHA:401953
Spastic Paraparesis And Deafness
Tremor, Spastic paraparesis, Hypogonadism OMIM:312910
Odonto-Onycho Dysplasia-Alopecia Syndrome
Hypoplastic toenails, Sparse hair, Sparse eyebrow, Alopecia, Sparse body hair, Abnormal fingernai... ORPHA:2722
Léri-Weill Dyschondrosteosis
Abnormality of femur morphology, Hypoplasia of the radius, Cone-shaped epiphysis, Micromelia, Abn... ORPHA:240
Cerebellar Ataxia And Ectodermal Dysplasia
Ataxia, Sparse hair, Alopecia OMIM:212835
Ichthyosis, Hystrix-Like, With Deafness
Sensorineural hearing impairment, Sparse scalp hair, Sparse eyebrow, Sparse eyelashes, Palmoplant... OMIM:602540
Aniridia 3
Cataract OMIM:617142
Gollop-Wolfgang Complex
Aplasia/Hypoplasia of the ulna, Ectrodactyly, Aplasia/Hypoplasia of the tibia, Hand monodactyly, ... ORPHA:1986
Dyschondrosteosis And Nephritis
Radial bowing, Nephritis, Short tibia, Ulnar bowing, Short forearm OMIM:127350
Spastic Paraparesis-Deafness Syndrome
Sensorineural hearing impairment, Ataxia, Hemiplegia/hemiparesis, Spastic paraparesis, Short stat... ORPHA:2815
Intellectual Developmental Disorder With Poor Growth And With Or Without Seizures Or Ataxia
Fair hair, Increased LDL cholesterol concentration, Gait ataxia, Developmental cataract, Incoordi... OMIM:618808
Disordered Steroidogenesis Due To Cytochrome P450 Oxidoreductase Deficiency
Increased circulating ACTH level, Ambiguous genitalia, Congenital adrenal hyperplasia OMIM:613571
Kerion Celsi
Recurrent skin infections, Inflammatory abnormality of the skin, Recurrent cutaneous abscess form... ORPHA:499
Immunodeficiency, Common Variable, 6
Mesangial Immune complex deposition, Hepatomegaly, Nephrotic range proteinuria, Macroscopic hemat... OMIM:613496
Alpha-N-Acetylgalactosaminidase Deficiency Type 3
Cataract, Hepatomegaly ORPHA:79281
Oliver-Mcfarlane Syndrome
Severe short stature, Sparse hair, Decreased response to growth hormone stimulation test, Alopeci... OMIM:275400
Neuronopathy, Distal Hereditary Motor, Type Viia
Tremor, Pes cavus, Vocal cord paralysis, Vocal cord paresis OMIM:158580
Spinocerebellar Ataxia 43
Ataxia, Limb ataxia, Pes cavus, Rigidity, Tremor, Gait ataxia OMIM:617018
Flynn-Aird Syndrome
Ataxia, Alopecia, Hyperkeratosis, Cataract, Progressive sensorineural hearing impairment, Alopeci... OMIM:136300
Leukoencephalopathy with metaphyseal chondrodysplasia
Spastic paraplegia, Tremor, Babinski sign, Metaphyseal chondrodysplasia OMIM:300660
Dystonia 27
Oromandibular dystonia, Action tremor, Laryngeal dystonia, Writer's cramp, Postural tremor OMIM:616411
Mesomelic Dysplasia, Savarirayan Type
Dislocated radial head, Short tibia, Talipes equinovalgus, Mesomelia, Abnormal foot morphology, H... OMIM:605274
Corneal Dystrophy, Groenouw Type I
Nodular corneal dystrophy, Granular corneal dystrophy, Cataract, Punctate corneal dystrophy OMIM:121900
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density
Short femur, Hypoplasia of the radius, Short tibia, Lytic defects of humeral diaphysis, Hypoplasi... OMIM:601376
Olmsted Syndrome 1
Nail dysplasia, Alopecia universalis, Corneal opacity, Sparse hair, Subungual hyperkeratosis, Opa... OMIM:614594
Leukoencephalopathy, Brain Calcifications, And Cysts
Hemiplegia, Ataxia, Abnormal pyramidal sign, Tremor, Spasticity, Dystonia, Abnormality of extrapy... OMIM:614561
Intellectual Developmental Disorder, Autosomal Recessive 6
Tremor, Myoclonus, Involuntary movements, Dystonia OMIM:611092
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis
Nail dysplasia, Alopecia, Elevated circulating creatine kinase concentration, Erysipelas, Hypohid... OMIM:615704
Spinocerebellar Degeneration-Corneal Dystrophy Syndrome
Corneal opacity, Ataxia, Progressive cerebellar ataxia, Corneal dystrophy, Upper motor neuron dys... ORPHA:3177
Slc39A8-Cdg
Disproportionate short-limb short stature, Inability to walk, Abnormal blood zinc concentration, ... ORPHA:468699
Tremor, Hereditary Essential, 1
Postural tremor, Action tremor, Hand tremor OMIM:190300
Glutathionuria
Tremor OMIM:231950
Dystonia 3, Torsion, X-Linked
Parkinsonism with favorable response to dopaminergic medication, Myoclonus, Chorea, Tremor, Torsi... OMIM:314250
Hypotrichosis Simplex
Sparse scalp hair, Sparse hair, Sparse eyebrow, Alopecia, Sparse body hair, Sparse eyelashes ORPHA:55654
Perifolliculitis Capitis Abscedens Et Suffodiens, Familial
Alopecia, Perifolliculitis, Alopecia of scalp OMIM:260910
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Nail dysplasia, Failure to thrive, Decreased body weight, Irregular hyperpigmentation, Recurrent ... ORPHA:89842
Alopecia Areata 1
Alopecia universalis, Patchy alopecia, Alopecia totalis, Trachyonychia, Nail pits OMIM:104000
Bathing Suit Ichthyosis
Sparse hair, Alopecia, Hypohidrosis, Palmoplantar hyperkeratosis, Scaling skin, Nail dystrophy, E... ORPHA:100976
Parkinson Disease 15, Autosomal Recessive Early-Onset
Parkinsonism with favorable response to dopaminergic medication, Talipes equinovarus, Bradykinesi... OMIM:260300
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
Sparse scalp hair, Alopecia universalis, Periodontitis, Sparse body hair, Abnormal eyelash morpho... ORPHA:1008
Hypotrichosis 4
Sparse scalp hair, Sparse eyebrow, Sparse eyelashes, Sparse body hair, Alopecia, Uncombable hair OMIM:146550
Ectodermal Dysplasia-Blindness Syndrome
Protruding ear, Sparse hair, Short stature, Microcornea, Keratoconjunctivitis sicca, Hypohidrosis... ORPHA:1806
Alopecia Universalis Congenita
Alopecia universalis, Absent eyebrow, Absent pubic hair, Absent eyelashes, Absent axillary hair OMIM:203655
Lipoid Congenital Adrenal Hyperplasia
Hypospadias, Congenital adrenal hyperplasia, Adrenogenital syndrome OMIM:201710
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies
Sensorineural hearing impairment, Sparse hair, Alopecia, Short stature, Hypothyroidism, Corneal d... OMIM:617763
Hypotrichosis 5
Sparse eyelashes, Alopecia, Thin eyebrow, Absent pubic hair, Absent axillary hair OMIM:612841
Bardet-Biedl Syndrome 18
Renal insufficiency, Brachydactyly, Cataract OMIM:615995
Tietz Syndrome
Abnormal anterior chamber morphology, Hypopigmentation of the skin, Hypopigmentation of hair, Whi... ORPHA:42665
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay
Tremor, Ataxia OMIM:213000
Spinocerebellar Ataxia 20
Action tremor, Limb ataxia, Abnormal pyramidal sign, Gait ataxia, Postural tremor OMIM:608687
Alopecia Areata 2
Alopecia totalis, Alopecia universalis, Patchy alopecia, Alopecia of scalp OMIM:610753
Epidermolysis Bullosa Simplex 6, Generalized, With Scarring And Hair Loss
Alopecia, Sparse body hair, Hypopigmentation of the skin, Diffuse palmoplantar hyperkeratosis, On... OMIM:617294
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Keratitis, Nail dysplasia, Cryptorchidism, Absent eyebrow, Alopecia, Short stature, Recurrent cor... OMIM:308205
Trichothiodystrophy 1, Photosensitive
Sparse hair, Microcornea, Cataract, Erythroderma, Hyperkeratosis, Freckling, Pili torti, Brittle ... OMIM:601675
Tibial Hemimelia
Radial club hand, Ambiguous genitalia, Aplasia of the 2nd metacarpal, Talipes equinovarus, Absent... ORPHA:93322
Spinal Muscular Atrophy, Jokela Type
Calf muscle hypertrophy, Pes cavus, Hammertoe, Tremor, Pes planus, Fasciculations OMIM:615048
Dyskinesia With Orofacial Involvement, Autosomal Recessive
Myoclonus, Frequent falls, Tremor, Hypothyroidism, Dystonia OMIM:619647
Candidiasis, Familial, 1
Chronic mucocutaneous candidiasis, Alopecia OMIM:114580
Moynahan Syndrome
Sensorineural hearing impairment, Sparse hair, Alopecia, Short stature, Cachexia, Hyperkeratosis ORPHA:2574
Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination
Motor stereotypy, Failure to thrive, Difficulty walking, Cataract, Spasticity OMIM:617393
Pili Torti-Onychodysplasia Syndrome
Alopecia universalis, Abnormal pinna morphology, Absent eyebrow, Brittle hair, Alopecia, Sparse b... ORPHA:2890
Segawa Syndrome, Autosomal Recessive
Parkinsonism with favorable response to dopaminergic medication, Myoclonus, Rigidity, Parkinsonis... OMIM:605407
Palmoplantar Keratoderma And Congenital Alopecia 2
Nail dysplasia, Dry skin, Palmoplantar hyperkeratosis, Alopecia totalis, Facial erythema, Hyperke... OMIM:212360
Lamellar Ichthyosis
Abnormal helix morphology, Sparse hair, Short stature, Aplasia/Hypoplasia of the eyebrow, Lack of... ORPHA:313
X-Linked Dominant Chondrodysplasia Punctata
Sensorineural hearing impairment, Abnormal pinna morphology, Sparse eyebrow, Sparse eyelashes, Pa... ORPHA:35173
Nephronophthisis 16
Nephronophthisis, Enlarged kidney, Polycystic kidney dysplasia, Renal insufficiency, Stage 5 chro... OMIM:615382
Hypotrichosis 11
Alopecia universalis, Sparse hair, Aplasia/Hypoplasia of the eyebrow, Sparse or absent eyelashes,... OMIM:615059
Alopecia, Psychomotor Epilepsy, Pyorrhea, And Mental Subnormality
Alopecia universalis, Periodontitis, Congenital alopecia totalis OMIM:104130
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Torticollis, Ataxia, Hyperkinetic movements, Chorea, Tremor, Dystonia OMIM:618425
Alopecia Universalis
Alopecia universalis, Absent eyebrow, Absent eyelashes, Patchy alopecia ORPHA:701
Ichthyosis With Confetti
Hypertrichosis, Decreased body weight, Short stature, Palmoplantar hyperkeratosis, Hypoplastic ni... OMIM:609165
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Tremor, Ataxia, Babinski sign, Spasticity OMIM:611105
Laurin-Sandrow Syndrome
Hand polydactyly, Absent radius, Syndactyly, Triphalangeal thumb, Patellar aplasia, Short foot, B... OMIM:135750
Dystonia, Dopa-Responsive
Torticollis, Parkinsonism with favorable response to dopaminergic medication, Talipes equinovarus... OMIM:128230
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome
Protruding ear, Severe short stature, Sparse hair, Alopecia, Onychogryposis of fingernail, Finger... ORPHA:2251
Classic Mycosis Fungoides
Irregular hyperpigmentation, Skin rash, Alopecia, Eczema, Erythema, Dry skin, Hyperkeratosis, Pru... ORPHA:2584
Flynn-Aird Syndrome
Ataxia, Alopecia, Cachexia, Primary adrenal insufficiency, Cataract, Skin ulcer, Impaired pain se... ORPHA:2047
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Acetabular spurs, Absent tibia, Talipes equinovarus, Metaphyseal spurs, Short ribs, Postaxial pol... OMIM:613091
Aldh18A1-Related De Barsy Syndrome
Cataract ORPHA:35664
Peeling Skin Syndrome 1
Palmoplantar hyperhidrosis, Brittle hair, Short stature, Scaling skin, Nail dystrophy, Pruritus, ... OMIM:270300
Thumb Deformity And Alopecia
Short stature, Increased groin pigmentation with raindrop depigmentation, Alopecia OMIM:188150
Clouston Syndrome
Nail dysplasia, Blepharitis, Sparse eyebrow, Alopecia, Brittle hair, Sparse eyelashes, Short stat... OMIM:129500
L-Ferritin Deficiency
Decreased circulating ferritin concentration, Alopecia OMIM:615604
Hepatorenocardiac Degenerative Fibrosis
Reduced renal corticomedullary differentiation, Hepatosplenomegaly, Hyperechogenic kidneys, Enlar... OMIM:619902
Orofaciodigital Syndrome Type 10
Mesomelic leg shortening, Short toe, Hypoplasia of proximal radius, Preaxial polydactyly, Microgn... ORPHA:2756
Absence Deformity Of Leg-Cataract Syndrome
Abnormality of femur morphology, Abnormal epiphysis morphology, Cataract, Abnormality of the lowe... ORPHA:2310
Epidermolysis Bullosa Simplex With Mottled Pigmentation
Nail dysplasia, Mixed hypo- and hyperpigmentation of the skin, Hypermelanotic macule, Palmar hype... ORPHA:79397
Ectodermal Dysplasia 6, Hair/Nail Type
Thin toenail, Dystrophic toenail, Sparse hair, Alopecia OMIM:614928
Ichthyosis, Congenital, Autosomal Recessive 11
Pili torti, Blepharitis, Corneal opacity, Sparse hair, Brittle hair, Sparse eyelashes, Sparse bod... OMIM:602400
Spinocerebellar Ataxia, Autosomal Recessive 4
Ataxia, Pes cavus, Babinski sign, Myoclonus, Frequent falls, Tremor, Gait ataxia, Spasticity, Fas... OMIM:607317
Spinocerebellar Ataxia, Autosomal Recessive 16
Limb ataxia, Ankle clonus, Babinski sign, Truncal ataxia, Tremor, Spasticity, Hypogonadism OMIM:615768
Winchester Syndrome
Hirsutism, Corneal opacity OMIM:277950
Growth Delay-Intellectual Disability-Hepatopathy Syndrome
Sensorineural hearing impairment, Spasticity, Decreased serum zinc, Esophagitis, Dermal transluce... ORPHA:541423
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Urethral atresia, Short humerus, Enlarged kidney, Hydronephrosis, Hand polydactyly, Proximal plac... OMIM:314390
Spinocerebellar Ataxia Type 20
Ataxia, Isometric tremor, Bradykinesia, Laryngeal dystonia, Intention tremor, Tremor by anatomica... ORPHA:101110
Galactosemia Ii
Cataract, Galactosuria OMIM:230200
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss
Tremor, Abnormal foot morphology OMIM:614369
Tibial Aplasia-Ectrodactyly Syndrome
Aplasia/Hypoplasia of the ulna, Abnormality of femur morphology, Ectrodactyly, Aplasia/Hypoplasia... ORPHA:3329
Parkinsonism With Spasticity, X-Linked
Bradykinesia, Resting tremor, Babinski sign, Parkinsonism, Cogwheel rigidity, Spasticity OMIM:300911
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia
Sparse scalp hair, Hypoplastic toenails, Toenail dysplasia, Alopecia, Fingernail dysplasia, Abnor... ORPHA:2325
Corneal Dystrophy-Perceptive Deafness Syndrome
Sensorineural hearing impairment, Corneal opacity, Corneal dystrophy ORPHA:1490
Rhizomelic Chondrodysplasia Punctata, Type 1
Sensorineural hearing impairment, Severe short stature, Severe failure to thrive, Alopecia, Rhizo... OMIM:215100
Bullous Dystrophy, Hereditary Macular Type
Alopecia totalis, Severe short stature, Abnormality of the nail, Hyperpigmentation of the skin OMIM:302000
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Ataxia, Myoclonus, Rigidity, Parkinsonism, Chorea, Tremor, Upper motor neuron dysfunction, Dystonia ORPHA:401901
Sézary Syndrome
Irregular hyperpigmentation, Alopecia, Dry skin, Tremor, Nail dystrophy, Pruritus, Erythroderma, ... ORPHA:3162
N-Acetylaspartate Deficiency
Motor stereotypy, Decreased body weight, Short stature, Truncal ataxia, Unsteady gait OMIM:614063
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia
Alopecia, Dry skin, Hypohidrosis, Abnormal fingernail morphology, Fine hair, Abnormal toenail mor... ORPHA:248
Alopecia Totalis
Alopecia, Alopecia of scalp ORPHA:700
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Corneal opacity, Alopecia, Hypopigmentation of hair, Cataract, Aplasia/Hypoplasia of the iris, Pe... ORPHA:1067
Deafness-Craniofacial Syndrome
Hearing impairment, Alopecia OMIM:125230
Trichomegaly
Cataract OMIM:190330
Cataract-Microcornea Syndrome
Corneal opacity, Microcornea, Iris coloboma, Cataract, Corneal dystrophy ORPHA:1377
X-Linked Agammaglobulinemia
Sensorineural hearing impairment, Failure to thrive, Sinusitis, Hypocalcemia, Osteomyelitis, Skin... ORPHA:47
Gonadoblastoma
Ovarian gonadoblastoma, Increased serum testosterone level, Gonadal dysgenesis with female appear... ORPHA:206484
Blount Disease
Abnormality of the knee, Abnormal tibial metaphysis morphology, Tibial bowing, Abnormality of the... ORPHA:2768
Spinocerebellar Ataxia Type 31
Tremor, Gait ataxia, Spasticity ORPHA:217012
Dyskinesia, Limb And Orofacial, Infantile-Onset
Hyperkinetic movements, Chorea, Frequent falls, Tremor, Hemiballismus OMIM:616921
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome
Adrenal insufficiency, Central adrenal insufficiency, Alopecia, Hyperpigmentation of the skin, De... OMIM:612079
Pigmented Nodular Adrenocortical Disease, Primary, 3
Adrenal hyperplasia, Increased circulating cortisol level OMIM:614190
Parc Syndrome
Absent eyebrow, Absent eyelashes, Alopecia OMIM:600331
Intellectual Developmental Disorder, X-Linked, Syndromic, Armfield Type
Small hand, Cataract, Short foot, Abnormal hand morphology OMIM:300261
Familial Reactive Perforating Collagenosis
Spotty hyperpigmentation, Abnormal pinna morphology, Inflammatory abnormality of the skin, Perifo... ORPHA:79147
Alopecia, Congenital
Sparse hair, Alopecia OMIM:300042
Pseudoprogeria Syndrome
Failure to thrive, Decreased body weight, Sparse hair, Absent eyebrow, Sparse eyebrow, Alopecia, ... ORPHA:2985
Griscelli Syndrome, Type 1
Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Silver-gray hair, White... OMIM:214450
Spinocerebellar Ataxia 37
Frequent falls, Tremor, Ataxia OMIM:615945
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant
Keratitis, Nail dysplasia, Blepharitis, Folliculitis, Sparse eyebrow, Sparse eyelashes, Alopecia,... OMIM:612843
Neutropenia, Severe Congenital, 9, Autosomal Dominant
3-Methylglutaconic aciduria, Cataract, Splenomegaly OMIM:619813
Tremor, Hereditary Essential, 4
Postural tremor, Action tremor OMIM:614782
Orofaciodigital Syndrome Viii
Short tibia, Syndactyly, Polydactyly OMIM:300484
Renal Dysplasia
Enlarged kidney, Thickened glomerular basement membrane, Congenital posterior urethral valve, Rec... ORPHA:93108
Satoyoshi Syndrome
Abnormality of femur morphology, Nephrogenic diabetes insipidus, Hypoplasia of the uterus, Hypopl... ORPHA:3130
Hereditary Bullous Dystrophy, Macular Type
Congenital abnormal hair pattern, Growth delay, Atrichia, Corneal opacity, Alopecia, Short statur... ORPHA:1867
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Motor stereotypy, Tremor, Ataxia, Short stature OMIM:617862
Classic Phenylketonuria
Hemiplegia, Hypertonia, Hypopigmentation of the skin, Lack of skin elasticity, Eczema, Hypopigmen... ORPHA:79254
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement
Frequent falls, Tremor, Hemiballismus, Chorea ORPHA:494526
Alopecia-Mental Retardation Syndrome With Convulsions And Hypergonadotropic Hypogonadism
Woolly scalp hair, Woolly hair, Decreased testicular size, Alopecia OMIM:601217
Galactosialidosis
Hearing impairment, Corneal opacity ORPHA:351
Neuroectodermal Melanolysosomal Disease
Hypertonia, Ataxia, Hypopigmentation of the skin, Hypopigmentation of hair, Rigidity, Tremor, Gen... ORPHA:33445
Epidermolysis Bullosa Simplex 5D, Generalized Intermediate, Autosomal Recessive
Plantar hyperkeratosis, Pruritus, Nail dystrophy, Alopecia OMIM:616487
Autosomal Dominant Spastic Ataxia Type 1
Hypertonia, Spastic ataxia, Limb ataxia, Pes cavus, Babinski sign, Spastic dysarthria, Spastic pa... ORPHA:251282
Griscelli Syndrome, Type 3
Silver-gray hair, Large clumps of pigment irregularly distributed along hair shaft, White eyelashes OMIM:609227
Congenital Disorder Of Glycosylation, Type If
Failure to thrive, Ataxia, Hypertonia, Dry skin, Hyperkeratosis, Scaling skin, Erythroderma OMIM:609180
Aa Amyloidosis
Chronic kidney disease, Nephrotic syndrome, Hepatomegaly, Abnormality of the kidney, Nephropathy,... ORPHA:85445
Quinquaud Folliculitis Decalvans
Pustule, Patchy alopecia, Recurrent skin infections, Erythema, Scarring alopecia of scalp, Abnorm... ORPHA:346
Spinocerebellar Ataxia 34
Ataxia, Limb ataxia, Intention tremor, Dysdiadochokinesis, Abnormal pyramidal sign, Gait ataxia, ... OMIM:133190
Developmental And Epileptic Encephalopathy 32
Tremor, Ataxia, Myoclonus OMIM:616366
Congenital Disorder Of Glycosylation, Type Ig
Talipes equinovarus, Micropenis, Hypoplasia of the radius, Hypospadias, Short ribs, Short femur, ... OMIM:607143
Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome
Sparse scalp hair, Sparse eyebrow, Alopecia, Short stature, Hypohidrosis, Hypothyroidism, Dystrop... ORPHA:1882
Netherton Syndrome
Sparse scalp hair, Irregular hyperpigmentation, Sparse eyebrow, Sparse eyelashes, Short stature, ... ORPHA:634
Chondrodysplasia Punctata 2, X-Linked Dominant
Failure to thrive, Abnormal pinna morphology, Sparse hair, Sparse eyebrow, Sparse eyelashes, Patc... OMIM:302960
Paralysis Agitans, Juvenile, Of Hunt
Bradykinesia, Rigidity, Parkinsonism, Tremor, Dystonia OMIM:168100
Trichodysplasia-Xeroderma Syndrome
Sparse scalp hair, Pili torti, Brittle hair, Alopecia, Sparse body hair, Sparse eyebrow, Coarse h... ORPHA:3361
Spondyloepimetaphyseal Dysplasia, Missouri Type
Metaphyseal irregularity, Tibial bowing, Femoral bowing, Flared metaphysis, Genu varum, Flattened... ORPHA:93356
Hyperzincemia With Functional Zinc Depletion
Increased serum zinc, Skin rash OMIM:601979
Parkinson Disease 13, Autosomal Dominant, Susceptibility To
Rigidity, Tremor, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia OMIM:610297
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay
Cataract, Developmental cataract OMIM:613076
Spastic Ataxia 2, Autosomal Recessive
Dysmetria, Babinski sign, Head titubation, Frequent falls, Tremor, Gait ataxia, Spasticity, Fasci... OMIM:611302
46,Xx Testicular Disorder Of Sex Development
Polycystic ovaries, Ambiguous genitalia, Male hypogonadism, Decreased testicular size ORPHA:393
Acrofacial Dysostosis Syndrome Of Rodriguez
Overlapping toe, Talipes equinovarus, Micrognathia, Short tibia, 11 pairs of ribs, Triphalangeal ... OMIM:201170
Leukoencephalopathy, Progressive, With Ovarian Failure
Ataxia, Tremor, Spasticity, Apraxia, Dystonia OMIM:615889
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome
Aplasia/Hypoplasia of the tibia, Synostosis of carpal bones, Abnormality of fibula morphology, Pa... ORPHA:988
Cataract-Nephropathy-Encephalopathy Syndrome
Renal tubular dysfunction, Cataract ORPHA:1380
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly
Aplasia of the ulna, Hand monodactyly, Bifid femur, Split hand, Foot monodactyly, Absent tibia OMIM:228250
Nephronophthisis 2
Absence of renal corticomedullary differentiation, Nephronophthisis, Chronic tubulointerstitial n... OMIM:602088
Corneodermatoosseous Syndrome
Short stature, Palmoplantar hyperkeratosis, Corneal dystrophy, Erythroderma, Onycholysis OMIM:122440
Pityriasis Rubra Pilaris
Irregular hyperpigmentation, Pustule, Eczema, Subungual hyperkeratosis, Pruritus, Erythroderma, P... ORPHA:2897
Short Rib-Polydactyly Syndrome
Nephronophthisis, Cone-shaped epiphysis, Micromelia, Bowing of the long bones, Short long bone, A... ORPHA:1505
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Kinetic tremor, Tremor OMIM:611808
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency
Impaired proprioception, Iridocyclitis, Pancreatitis, Limb ataxia, Alopecia, Postural tremor, Han... ORPHA:412057
Hyperaldosteronism, Familial, Type I
Adrenal hyperplasia, Decreased circulating renin level, Hyperaldosteronism, Adrenogenital syndrome OMIM:103900
Autosomal Dominant Epidermolytic Ichthyosis
Hyperkeratosis, Erythroderma, Skin ulcer, Palmoplantar keratoderma, Weight loss, Conjunctival ham... ORPHA:312
Severe Combined Immunodeficiency Due To Foxn1 Deficiency
Nail pits, Congenital alopecia totalis, Ridged nail ORPHA:169095
Alopecia-Intellectual Disability-Hypergonadotropic Hypogonadism Syndrome
Alopecia totalis ORPHA:1014
Renal-Hepatic-Pancreatic Dysplasia 2
Talipes equinovarus, Hepatomegaly, Femoral bowing, Cystic renal dysplasia, Enlarged kidney OMIM:615415
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Growth delay, Orthokeratosis, Sparse hair, Recurrent skin infections, Hypernatremia, Acantholysis... OMIM:615508
Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive
Recurrent skin infections, Alopecia, Eczema, Atopic dermatitis, Chronic mucocutaneous candidiasis... OMIM:618282
Alopecia, Familial Focal
Patchy alopecia OMIM:104110
Alopecia-Intellectual Disability Syndrome 2
Alopecia universalis OMIM:610422
Alopecia-Intellectual Disability Syndrome 3
Alopecia universalis OMIM:613930
Alopecia-Mental Retardation Syndrome 1
Alopecia universalis OMIM:203650
Alopecia, Androgenetic, 1
Alopecia OMIM:109200
Holocarboxylase Synthetase Deficiency
Ataxia, Alopecia, Hyperammonemia, Eczema, Keratoconjunctivitis, Perioral eczema, Growth delay, We... ORPHA:79242
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Large for gestational age, Corneal opacity, Microcornea ORPHA:2432
Incontinentia Pigmenti
Keratitis, Alopecia, Uveitis, Cataract, Spasticity, Abnormal toenail morphology, Skin ulcer, Broa... ORPHA:464
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Abnormality of the ovary, Decreased testicular size, Hypogonadism ORPHA:1875
Alopecia-Intellectual Disability Syndrome
Sparse scalp hair, Alopecia, Sparse body hair, Aplasia/Hypoplasia of the eyebrow, Short stature, ... ORPHA:2850
Epilepsy, Progressive Myoclonic 7
Tremor, Ataxia, Myoclonus OMIM:616187
Omenn Syndrome
Failure to thrive, Alopecia, Aplasia/Hypoplasia of the eyebrow, Dry skin, Hypothyroidism, Pruritu... ORPHA:39041
Ichthyosis, Congenital, Autosomal Recessive 1
Nail dysplasia, Sparse hair, Alopecia, Palmoplantar hyperkeratosis, Nail dystrophy, Erythroderma,... OMIM:242300
Hyperphenylalaninemia, Bh4-Deficient, D
Hypertonia, Tremor OMIM:264070
Hurler-Scheie Syndrome
Sensorineural hearing impairment, Generalized hirsutism, Corneal opacity, Short stature, Abnormal... ORPHA:93476
Thanatophoric Dysplasia, Glasgow Variant
Hepatosplenomegaly, Micromelia, Cataract OMIM:273680
Inflammatory Skin And Bowel Disease, Neonatal, 1
Failure to thrive, Perioral erythema, Blepharitis, Pustule, Paronychia, Perianal erythema, Onycho... OMIM:614328
Copper Deficiency, Familial Benign
Failure to thrive, Early balding, Decreased circulating copper concentration, Seborrheic dermatit... OMIM:121270
Gabriele-De Vries Syndrome
Tremor, Cryptorchidism, Dystonia, Long fingers OMIM:617557
Atypical Pantothenate Kinase-Associated Neurodegeneration
Oromandibular dystonia, Clumsiness, Abnormal pyramidal sign, Parkinsonism, Rigidity, Chorea, Freq... ORPHA:216873
Chromosome 3Q29 Deletion Syndrome
Motor stereotypy, Failure to thrive, Small for gestational age, Gait ataxia, Macrotia, Low-set ea... OMIM:609425
Dystonia 11, Myoclonic
Torticollis, Tremor, Myoclonus, Writer's cramp OMIM:159900
Spinocerebellar Ataxia Type 14
Progressive cerebellar ataxia, Limb ataxia, Myoclonus, Hyporeflexia of lower limbs, Rigidity, Tre... ORPHA:98763
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency
Adrenal hyperplasia, Male pseudohermaphroditism, Ambiguous genitalia, Adrenogenital syndrome OMIM:202110
Acromesomelic Dysplasia 2B
Short metatarsal, Talipes equinovalgus, Brachydactyly, Short phalanx of finger, Deviation of fing... OMIM:228900
Split-Hand/Foot Malformation With Long Bone Deficiency 1
Aplasia/Hypoplasia of the ulna, Aplasia of the 3rd finger, Split foot, Short hallux, Hand monodac... OMIM:119100
Spinocerebellar Ataxia 18
Dysmetria, Dysdiadochokinesis, Pes cavus, Babinski sign, Tremor, Progressive gait ataxia OMIM:607458
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Aplasia/Hypoplasia of the ulna, Hypoplasia of the radius, Femoral bowing, Congenital hip dislocat... OMIM:228930
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome
Failure to thrive, Abnormality of the ear, Recurrent skin infections, Frontal upsweep of hair, Or... ORPHA:391372
Corneal Dystrophy, Endothelial, X-Linked
Corneal opacity, Band keratopathy, Corneal dystrophy OMIM:300779
Adult Neuronal Ceroid Lipofuscinosis
Ataxia, Clumsiness, Myoclonus, Abnormal pyramidal sign, Tremor, Spasticity, Abnormality of extrap... ORPHA:79262
Autism Spectrum Disorder Due To Auts2 Deficiency
Motor stereotypy, Hypertonia, Cryptorchidism, Small for gestational age, Short stature, Cerebral ... ORPHA:352490
Piebald Trait-Neurologic Defects Syndrome
Sensorineural hearing impairment, Abnormal eyebrow morphology, Ataxia, Irregular hyperpigmentatio... ORPHA:2885
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia
Babinski sign, Spastic paraplegia, Gait disturbance, Progressive spastic paraplegia, Spasticity, ... ORPHA:139578
Albinism, Oculocutaneous, Type Iii
Partial albinism, Albinism, Red hair OMIM:203290
Renpenning Syndrome
Sensorineural hearing impairment, Abnormal hairshaft morphology, Severe short stature, Alopecia, ... ORPHA:3242
Spinal Muscular Atrophy, Late-Onset, Finkel Type
Tremor, Fasciculations OMIM:182980
Waardenburg Syndrome, Type 2F
Sensorineural hearing impairment, Congenital sensorineural hearing impairment, Hypermelanotic mac... OMIM:619947
Weismann-Netter Syndrome
Abnormality of femur morphology, Tibial bowing, Abnormality of the thyroid gland, Abnormal morpho... ORPHA:3344
Corneal Dystrophy, Posterior Polymorphous, 2
Corneal opacity, Corneal dystrophy OMIM:609140
Ichthyosis Prematurity Syndrome
Follicular hyperkeratosis, Allergic rhinitis, Hyperpigmentation of the skin, Pruritus, Erythroder... OMIM:608649
Cataract 47
Glycosuria, Cataract, Microcornea OMIM:612018
Ataxia, Spastic, Childhood-Onset, Autosomal Recessive, With Optic Atrophy And Mental Retardation
Clumsiness, Dysmetria, Poor coordination, Ankle clonus, Babinski sign, Tremor, Spasticity, Spasti... OMIM:270500
Migraine, Familial Hemiplegic, 1
Hemiplegia, Tremor, Ataxia, Hemiparesis OMIM:141500
Optic Atrophy 3, Autosomal Dominant
Tremor, Abnormality of extrapyramidal motor function OMIM:165300
Cataract 9, Multiple Types
Progressive cataract, Microcornea, Iris coloboma, Cataract, Developmental cataract OMIM:604219
Spinocerebellar Ataxia Type 38
Tremor, Gait ataxia ORPHA:423296
Split-Hand With Congenital Nystagmus, Fundal Changes, And Cataracts
Split hand, Hand monodactyly, Cataract, Split foot OMIM:183800
Acromesomelic Dysplasia 3
Hypergonadotropic hypogonadism, Short 1st metacarpal, Hypoplasia of the ulna, Carpal synostosis, ... OMIM:609441
Megalocornea
Lens subluxation, Mosaic corneal dystrophy, Megalocornea, Astigmatism, Iridodonesis, Cataract, Ir... OMIM:309300
Parkinson Disease 11, Autosomal Dominant, Susceptibility To
Rigidity, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Resting ... OMIM:607688
Severe Neurodevelopmental Disorder With Feeding Difficulties-Stereotypic Hand Movement-Bilateral Cataract
Stereotypical hand wringing, Failure to thrive, Juvenile cataract, Spasticity ORPHA:500545
Pontocerebellar Hypoplasia, Type 11
Motor stereotypy, Broad-based gait, Ataxia, Decreased body weight, Inability to walk, Limb ataxia... OMIM:617695
Galactosemia Iv
Cataract OMIM:618881
Microcephalic Primordial Dwarfism, Toriello Type
Micrognathia, Short middle phalanx of toe, Short proximal phalanx of hallux, Short proximal phala... OMIM:251190
Palmoplantar Keratoderma And Congenital Alopecia 1
Nail dysplasia, Leukonychia, Sparse hair, Sparse eyebrow, Brittle hair, Alopecia, Palmoplantar er... OMIM:104100
Netherton Syndrome
Sparse scalp hair, Failure to thrive, Brittle hair, Sparse eyebrow, Brittle scalp hair, Allergic ... OMIM:256500
Lopes-Maciel-Rodan Syndrome
Hypertonia, Bradykinesia, Small hand, Ankle clonus, Abnormal pyramidal sign, Tremor, Short foot, ... OMIM:617435
Spinocerebellar Ataxia, Autosomal Recessive 21
Ataxia, Talipes equinovarus, Splenomegaly, Frequent falls, Tremor, Gait ataxia, Spasticity OMIM:616719
Foxg1 Syndrome
Motor stereotypy, Decreased body weight, Inability to walk, Short stature, Severe postnatal growt... ORPHA:561854
Urocanase Deficiency
Ataxia, Fair hair, Blue irides, Short stature, Tremor OMIM:276880
Ichthyosis, Congenital, Autosomal Recessive 2
Growth delay, Alopecia, Erythema, Hypohidrosis, Anhidrosis, Hyperkeratosis, Paralysis, Palmoplant... OMIM:242100
Pili Torti
Pili torti, Abnormal eyebrow morphology, Abnormality of hair texture, Brittle hair, Alopecia, Hea... ORPHA:2889
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Oromandibular dystonia, Bradykinesia, Ankle clonus, Babinski sign, Parkinsonism, Tremor, Spastici... ORPHA:521406
Keratoderma Hereditarium Mutilans
Sensorineural hearing impairment, Alopecia, Honeycomb palmoplantar hyperkeratosis, Hyperkeratosis... ORPHA:494
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Ataxia, Myoclonus, Babinski sign, Tremor, Abnormality of extrapyramidal motor function OMIM:615362
Multiple Carboxylase Deficiency
Ataxia, Spastic paraparesis, Alopecia, Hyperammonemia, Skin rash, Hearing impairment ORPHA:148
Rhizomelic Chondrodysplasia Punctata
Alopecia, Sparse body hair, Short stature, Dry skin, Rhizomelia, Cataract, Growth delay ORPHA:177
Dwarfism With Stiff Joints And Ocular Abnormalities
Delayed ossification of carpal bones, Short phalanx of finger, Short lower limbs, Cataract, Lower... OMIM:127200
Juvenile Sialidosis Type 2
Low-set ears, Corneal opacity, Ataxia, Loss of ambulation, Dysmetria, Myoclonus, Lower limb spast... ORPHA:93399
Progressive Supranuclear Palsy-Corticobasal Syndrome
Parkinsonism with favorable response to dopaminergic medication, Progressive extrapyramidal muscu... ORPHA:240103
Spinocerebellar Ataxia Type 12
Ataxia, Action tremor, Bradykinesia, Poor fine motor coordination, Intention tremor, Tremor by an... ORPHA:98762
Lichen Planopilaris
Hypopigmented skin patches, Alopecia, Abnormal fingernail morphology, Hepatitis, Hyperkeratosis, ... ORPHA:525
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Blind vagina, Ovarian cyst, Decreased circulating cortisol level, Abnormal response to ACTH stimu... ORPHA:90793
Parkinson Disease 2, Autosomal Recessive Juvenile
Bradykinesia, Rigidity, Parkinsonism, Tremor, Dystonia OMIM:600116
Woolly Hair
Abnormality of hair texture, Woolly hair, Abnormal pupil morphology, Brittle hair, Sparse body ha... ORPHA:170
Microcephaly, Growth Retardation, Cataract, Hearing Loss, And Unusual Appearance
Decreased body weight, Cryptorchidism, Short stature, Eczema, Dry skin, Cataract, Postnatal growt... OMIM:612947
Ectodermal Dysplasia 4, Hair/Nail Type
Pili torti, Absent eyebrow, Brittle hair, Alopecia, Sparse body hair, Temporal hypotrichosis, Con... OMIM:602032
Intellectual Developmental Disorder With Autism And Speech Delay
Motor stereotypy, Inability to walk OMIM:606053
Laurin-Sandrow Syndrome
Preaxial foot polydactyly, Absent tibia, Absent radius, Preaxial hand polydactyly, Limb duplicati... ORPHA:2378
Hypoalphalipoproteinemia, Primary, 2
Cataract, Corneal arcus OMIM:618463
Short Syndrome
Sensorineural hearing impairment, Corneal opacity, Abnormal pupil morphology, Sparse hair, Severe... ORPHA:3163
Monilethrix
Abnormal eyebrow morphology, Sparse hair, Patchy alopecia, Brittle hair, Follicular hyperkeratosi... ORPHA:573
Martsolf Syndrome 2
Overlapping toe, Camptodactyly of finger, Camptodactyly, Cataract, Developmental cataract OMIM:619420
Metaphyseal Dysplasia, Braun-Tinschert Type
Upper limb metaphyseal widening, Humerus varus, Hypoplasia of the ulna, Flared femoral metaphysis... ORPHA:85188
Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp
Writer's cramp, Tremor, Myoclonus, Paroxysmal dystonia OMIM:608105
Hereditary Sensory And Autonomic Neuropathy Type 1
Gait imbalance, Pain insensitivity, Inability to walk, Osteomyelitis, Impaired distal tactile sen... ORPHA:36386
Crandall Syndrome
Sensorineural hearing impairment, Pili torti, Brittle hair, Alopecia, Sparse body hair, Aplasia/H... ORPHA:202
Mesomelic Dysplasia, Savarirayan Type
Hypoplasia of proximal radius, Flared radial metaphysis, High iliac wing, Metatarsus valgus, Glen... ORPHA:85170
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Motor stereotypy, Ataxia OMIM:618709
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures
Motor stereotypy, Ataxia, Poor coordination, Chorea, Falls, Paroxysmal dyskinesia, Dystonia OMIM:619150
Trichothiodystrophy
Eczema, Microcornea, Spasticity, Intrauterine growth retardation, Hypertonia, Intention tremor, A... ORPHA:33364
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Alopecia universalis, Chronic oral candidiasis, Patchy alopecia, Psoriasiform dermatitis, Eczema,... OMIM:606367
Mucolipidosis Type Iii
Hearing abnormality, Acne, Corneal opacity, Short stature ORPHA:577
Adrenoleukodystrophy
Paraparesis, Impaired vibration sensation at ankles, Elevated circulating long chain fatty acid c... OMIM:300100
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Nail dysplasia, Hypomagnesemia, Hypokalemia, Hypocalcemia, Alopecia, Cachexia, Xerostomia, Catara... OMIM:175500
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency
Bifid scrotum, Micropenis, Male pseudohermaphroditism, Hypospadias, Absent scrotum, Adrenal hyper... OMIM:201810
Encephalopathy, Progressive, With Or Without Lipodystrophy
Ataxia, Myoclonus, Abnormal pyramidal sign, Tetraparesis, Tremor, Spasticity, Dystonia OMIM:615924
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Myoclonus, Babinsk... ORPHA:314632
Spondyloperipheral Dysplasia-Short Ulna Syndrome
Flattened femoral head, Hip dysplasia, Aplasia/hypoplasia involving bones of the extremities, Irr... ORPHA:1856
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatomegaly, Absence of renal corticomedullary differentiation, Splenomegaly, Enlarged kidney, T... OMIM:263200
Epilepsy, Progressive Myoclonic, 1B
Tremor, Babinski sign, Dysmetria OMIM:612437
Intellectual Developmental Disorder, X-Linked 72
Motor stereotypy, Short stature OMIM:300271
Cortisone Reductase Deficiency 1
Acne, Obesity, Hirsutism, Alopecia OMIM:604931
Johnson Neuroectodermal Syndrome
Conductive hearing impairment, Protruding ear, Failure to thrive, Severe short stature, Sparse ha... ORPHA:2316
Orofaciodigital Syndrome Iv
Postaxial polydactyly, Micrognathia, Short tibia, Brachydactyly, Short finger, Clinodactyly, Hand... OMIM:258860
Bilateral Striopallidodentate Calcinosis
Corneal opacity, Intrauterine growth retardation ORPHA:1980
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Broad-based gait, Motor stereotypy, Tremor, Spastic tetraparesis, Small nail OMIM:619470
Acrodermatitis Enteropathica
Abnormal eyebrow morphology, Failure to thrive, Cheilitis, Blepharitis, Pustule, Alopecia, Short ... ORPHA:37
Xeroderma Pigmentosum, Complementation Group G
Ataxia, Small for gestational age, Tremor, Cataract, Spasticity, Growth delay OMIM:278780
Baralle-Macken Syndrome
Hirsutism, Inability to walk, Cataract, Spasticity, Striae distensae, Cafe-au-lait spot, Obesity,... OMIM:619255
Incontinentia Pigmenti
Keratitis, Sparse hair, Alopecia, Maculopapular exanthema, Coarse hair, Breast aplasia, Uveitis, ... OMIM:308300
Spastic Paraplegia 6, Autosomal Dominant
Pes cavus, Babinski sign, Spastic paraplegia, Tremor, Clonus, Spastic gait, Lower limb spasticity OMIM:600363
Alopecia-Contractures-Dwarfism Mental Retardation Syndrome
Large fleshy ears, Severe postnatal growth retardation, Severe short stature, Alopecia OMIM:203550
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Adrenal hyperplasia, Hypospadias, Adrenogenital syndrome OMIM:201910
Multiple Epiphyseal Dysplasia With Robin Phenotype
Dislocated radial head, Coxa vara, Flat capital femoral epiphysis, Talipes equinovarus, Short fem... OMIM:601560
Eiken Syndrome
Epiphyseal dysplasia, Metaphyseal irregularity, Short toe, Delayed epiphyseal ossification, Abnor... ORPHA:79106
Free Sialic Acid Storage Disease
Ataxia, Abnormal pyramidal sign, Athetosis, Gait disturbance, Iris hypopigmentation, Abnormality ... ORPHA:834
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Corneal opacity, Intrauterine growth retardation, Low-set, posteriorly rotated ears, Short stature ORPHA:2370
Slc35A2-Cdg
Precocious puberty, Talipes equinovarus, Short tibia, Aplasia/hypoplasia involving bones of the e... ORPHA:356961
Biotinidase Deficiency
Sensorineural hearing impairment, Ataxia, Skin rash, Alopecia, Hyperammonemia, Recurrent skin inf... OMIM:253260
Developmental And Epileptic Encephalopathy 58
Motor stereotypy, Spastic diplegia, Inability to walk OMIM:617830
Primary Dystonia, Dyt2 Type
Torticollis, Blepharospasm, Tremor, Involuntary movements, Limb dystonia, Torsion dystonia, Gener... ORPHA:99657
Griscelli Syndrome, Type 2
Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Silver-gray hair, Spast... OMIM:607624
Multiple Epiphyseal Dysplasia, Beighton Type
Flattened femoral head, Coxa vara, Flat capital femoral epiphysis, Metaphyseal spurs, Hip dysplas... ORPHA:166011
Severe Intellectual Disability And Progressive Spastic Paraplegia
Motor stereotypy, Short stature, Babinski sign, Spastic dysarthria, Difficulty walking, Progressi... ORPHA:280763
Dystonia 28, Childhood-Onset
Torticollis, Oromandibular dystonia, Laryngeal dystonia, Retrocollis, Myoclonus, Craniofacial dys... OMIM:617284
Autoimmune Polyendocrinopathy Type 1
Hypoparathyroidism, Decreased circulating aldosterone level, Alopecia, Increased circulating cort... ORPHA:3453
Developmental And Epileptic Encephalopathy 97
Tremor, Inability to walk, Stereotypical hand wringing OMIM:619561
Sialidosis Type 1
Sensorineural hearing impairment, Corneal opacity, Ataxia, Short stature, Myoclonus, Gait disturb... ORPHA:812
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Tapered toe, Hepatomegaly, Long-chain dicarboxylic aciduria, Ureteral duplication, Long fingers, ... OMIM:608836
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome
Hypoplasia of penis, Hypospadias, Aplasia/Hypoplasia of the lens, Genu valgum, Cataract ORPHA:1381
Behr Syndrome
Ataxia, Dysmetria, Babinski sign, Progressive spasticity, Tremor, Achilles tendon contracture OMIM:210000
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques
Sensorineural hearing impairment, Palmoplantar hyperhidrosis, Sparse hair, Alopecia, Erythema, Ab... ORPHA:659
Ophthalmomandibulomelic Dysplasia
Radial bowing, Coxa valga, Lateral humeral condyle aplasia, Megalocornea, Opacification of the co... OMIM:164900
Trichohepatoenteric Syndrome 2
Failure to thrive, Colitis, Woolly hair, Sparse hair, Brittle hair, Small for gestational age, Ch... OMIM:614602
Waardenburg Syndrome, Type 2B
Sensorineural hearing impairment, White forelock, Premature graying of hair, Heterochromia iridis OMIM:600193
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive
Motor stereotypy, Inability to walk, Involuntary movements, Spasticity, Dystonia OMIM:617820
Pachyonychia Congenita
Failure to thrive, Palmoplantar hyperhidrosis, Palmar hyperkeratosis, Alopecia, Linear arrays of ... ORPHA:2309
Sialidosis Type 2
Corneal opacity, Ataxia, Short stature, Tremor, Hearing impairment ORPHA:87876
Dystonia 13, Torsion, Autosomal Dominant
Torticollis, Oromandibular dystonia, Blepharospasm, Tremor, Writer's cramp, Limb dystonia, Torsio... OMIM:607671
Congenital Rubella Syndrome
Sensorineural hearing impairment, Corneal opacity, Abnormality of retinal pigmentation, Skin rash... ORPHA:290
Aicardi-Goutieres Syndrome 6
Hemolytic anemia, Tremor, Rigidity, Dystonia OMIM:615010
Epilepsy, Familial Adult Myoclonic, 4
Tremor, Myoclonus OMIM:615127
Spastic Paraplegia 5A, Autosomal Recessive
Sensorineural hearing impairment, Upper limb spasticity, Impaired vibration sensation in the lowe... OMIM:270800
Nicolaides-Baraitser Syndrome
Severe short stature, Sparse hair, Alopecia, Excessive wrinkled skin, Eczema, Abnormal hair patte... ORPHA:3051
Lichtenstein-Knorr Syndrome
Ataxia, Action tremor, Dysmetria, Limb ataxia, Dysdiadochokinesis, Gait ataxia OMIM:616291
Systemic Lupus Erythematosus 17
Optic neuritis, Alopecia, Myelitis, Chorea, Malar rash OMIM:301080
Femoral-Facial Syndrome
Coxa vara, Renal hypoplasia/aplasia, Talipes equinovarus, Aplasia/Hypoplasia of the tibia, Short ... ORPHA:1988
Cronkhite-Canada Syndrome
Hypoplastic toenails, Patchy alopecia, Alopecia, Sparse body hair, Aplasia/Hypoplasia of the eyeb... ORPHA:2930
Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness
Epiphyseal dysplasia, Brachydactyly, Short phalanx of finger, Genu valgum, Cataract, Coxa valga OMIM:132450
Leber Congenital Amaurosis 1
Sensorineural hearing impairment, Pigmentary retinopathy, Keratoconus, Hyperthreoninemia, Catarac... OMIM:204000
Corticobasal Syndrome
Progressive extrapyramidal muscular rigidity, Bradykinesia, Myoclonus, Parkinsonism, Oromotor apr... ORPHA:454887
Endocrine-Cerebroosteodysplasia
Ulnar deviation of the hand, Postaxial polydactyly, Preaxial polydactyly, Micrognathia, Micropeni... OMIM:612651
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Long hallux, Tibial bowing, Talipes equinovarus, Nephroblastoma, Multicystic kidney dysplasia, Lo... ORPHA:500095
Autosomal Recessive Palmoplantar Keratoderma And Congenital Alopecia
Lack of skin elasticity, Alopecia totalis, Cataract, Nail dystrophy, Palmoplantar keratoderma ORPHA:1366
Oculocerebral Syndrome With Hypopigmentation
Hypopigmentation of the skin, Athetosis, Silver-gray hair, Spasticity, Growth delay OMIM:257800
Waardenburg Syndrome, Type 4A
Sensorineural hearing impairment, Ataxia, Blue irides, Spastic paraparesis, White eyebrow, White ... OMIM:277580
Intellectual Developmental Disorder, Autosomal Dominant 7
Motor stereotypy, Abnormal pinna morphology, Ataxia, Small for gestational age, Short stature, Bi... OMIM:614104
Obesity Due To Prohormone Convertase I Deficiency
Failure to thrive, Growth delay, Decreased response to growth hormone stimulation test, Central a... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Failure to thrive, Growth delay, Decreased response to growth hormone stimulation test, Central a... ORPHA:71526
Hepatic Adenomas, Familial
Polycystic ovaries, Maturity-onset diabetes of the young OMIM:142330
Johnson Neuroectodermal Syndrome
Conductive hearing impairment, Protruding ear, Sparse hair, Absent eyebrow, Microtia, Alopecia, S... OMIM:147770
Anterior Segment Dysgenesis 8
Microphakia, Ectopia pupillae, Uveal ectropion, Hypoplasia of the iris, Cataract, Iris transillum... OMIM:617319
Prolidase Deficiency
Hirsutism, Low anterior hairline, Generalized hirsutism, Abnormality of retinal pigmentation, Abn... ORPHA:742
Phenylketonuria
Fair hair, Blue irides, Generalized hypopigmentation, Eczema, Maternal hyperphenylalaninemia, Dry... OMIM:261600
Intellectual Developmental Disorder, Autosomal Recessive 58
Motor stereotypy, Spastic diplegia, Choreoathetosis, Short stature OMIM:617270
Omenn Syndrome
Failure to thrive, Hypoproteinemia, Alopecia, Hypoplasia of the thymus, Pneumonia, Erythroderma OMIM:603554
Congenital Sialidosis Type 2
Low-set ears, Corneal opacity, Ataxia, Petechiae, Dysmetria, Myoclonus, Cataract, Developmental c... ORPHA:93400
Tyrosinemia Type 2
Corneal opacity, Ataxia, Tremor, Hyperkeratosis, Palmoplantar keratoderma, Abnormality of the nai... ORPHA:28378
Chilblain Lupus
Discoid lupus rash, Pruritis on hand, Inflammatory abnormality of the skin, Skin rash, Hyperkerat... ORPHA:90280
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 2
Dysmetria, Small hand, Dysdiadochokinesis, Truncal ataxia, Tremor, Short foot, Short palm OMIM:610185
Gomez-Lopez-Hernandez Syndrome
Hypertonia, Ataxia, Decreased response to growth hormone stimulation test, Alopecia, Short statur... OMIM:601853
Fucosidosis
Failure to thrive, Corneal opacity, Abnormal pyramidal sign, Hypothyroidism, Generalized hyperker... ORPHA:349
Spinocerebellar Ataxia, Autosomal Recessive 2
Ataxia, Limb ataxia, Dysmetria, Pes cavus, Tremor, Gait ataxia, Spasticity, Incoordination OMIM:213200
Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome
Congenital alopecia totalis, Sparse eyebrow, Cutis laxa, Absent pubic hair, Dry skin, Generalized... ORPHA:2269
Dermoids Of Cornea
Corneal opacity OMIM:304730
Fraxe Intellectual Disability
Prominent ear helix, Clumsiness, Recurrent hand flapping, Stereotypical body rocking, Short statu... ORPHA:100973
Microcephalic Osteodysplastic Dysplasia, Saul-Wilson Type
Cone-shaped epiphyses of the phalanges of the hand, Talipes equinovarus, Small hand, Cataract, Sh... ORPHA:85172
Menkes Disease
Hypertonia, Sparse hair, Brittle hair, Alopecia, Cutis laxa, Hypopigmentation of the skin, Short ... OMIM:309400
Chorea, Remitting, With Nystagmus And Cataract
Cataract OMIM:601372
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form
Recurrent skin infections, Abnormal circulating selenium concentration, Anonychia, Decreased plas... ORPHA:79408
Upper Limb Defect-Eye And Ear Abnormalities Syndrome
Cataract, Short metacarpal, Short thumb ORPHA:2489
Monilethrix
Nail dysplasia, Abnormality of hair texture, Sparse hair, Brittle hair, Alopecia, Perifollicular ... OMIM:158000
Baker-Gordon Syndrome
Motor stereotypy, Ataxia, Inability to walk, Hyperkinetic movements, Choreoathetosis, Involuntary... OMIM:618218
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy
Nail pits, Ridged nail, Nail dystrophy, Alopecia OMIM:601705
Alopecia-Intellectual Disability Syndrome 4
Erythroderma, Bilateral cryptorchidism, Alopecia OMIM:618840
Basal Ganglia Calcification, Idiopathic, 1
Bradykinesia, Dysdiadochokinesis, Abnormal pyramidal sign, Parkinsonism, Rigidity, Chorea, Atheto... OMIM:213600
Smith-Magenis syndrome
Motor stereotypy, Short stature DECIPHER:8
Parkinsonism-Dystonia 1, Infantile-Onset
Oromandibular dystonia, Hypertonia, Bradykinesia, Oculogyric crisis, Abnormal pyramidal sign, Par... OMIM:613135
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Short stature, Pallor, Hypopigmentation of the skin, Hypopigmentation of hair, Albinism ORPHA:2786
Ectodermal Dysplasia-Syndactyly Syndrome 1
Pili torti, Sparse scalp hair, Hypoplastic toenails, Patchy alopecia, Sparse eyelashes, Absent fa... OMIM:613573
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Ataxia, Bradykinesia, Resting tremor, Small hand, Micrognathia, Pes cavus, Babinski sign, Parkins... OMIM:300055
Ichthyosis, Congenital, Autosomal Recessive 6
Orthokeratosis, Dry skin, Hypohidrosis, Hyperkeratosis, Scaling skin, Erythroderma, Palmoplantar ... OMIM:612281
Yemenite Deaf-Blind Hypopigmentation Syndrome
Microcornea, Patchy hypo- and hyperpigmentation, Numerous pigmented freckles, Iris coloboma, Seve... OMIM:601706
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Hypoplasia of the radius, Clitoral hypoplasia, Hypoplasia of the ulna, Talipes equinovarus, Aplas... OMIM:609945
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Failure to thrive, Alopecia, Eczema, Glomerulonephritis, Arthritis, Hypothyroidism, Hepatitis, Er... OMIM:304790
Lysinuric Protein Intolerance
Increased circulating ferritin concentration, Failure to thrive, Pancreatitis, Decreased response... ORPHA:470
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset
Ataxia, Dysmetria, Limb ataxia, Hypergonadotropic hypogonadism, Dysdiadochokinesis, Abnormal pyra... OMIM:617145
Charcot-Marie-Tooth Disease, Axonal, Type 2X
Tremor, Pes cavus, Ankle flexion contracture, Abnormal foot morphology OMIM:616668
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Partial albinism, Hypopigmentation of hair, Short stature ORPHA:90023
Congenital Disorder Of Glycosylation, Type Iq
Failure to thrive, Hypertrichosis, Cutis laxa, Eczema, Dry skin, Hyperkeratosis, Cataract, Spasti... OMIM:612379
Stuve-Wiedemann Syndrome 1
Femoral bowing, Ulnar deviation of finger, Contracture of the proximal interphalangeal joint of t... OMIM:601559
Mucous Membrane Pemphigoid
Corneal opacity ORPHA:46486
Ataxia-Telangiectasia
Failure to thrive, Ataxia, Multiple cafe-au-lait spots, Short stature, Hypopigmentation of hair, ... ORPHA:100
Congenital Lethal Erythroderma
Dry skin, Failure to thrive, Congenital exfoliative erythroderma, Hypoalbuminemia ORPHA:1954
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Cholelithiasis, Hypoparathyroidism, Alopecia universalis, Adrenal insufficiency, Decreased circul... OMIM:240300
Parkinson Disease 22, Autosomal Dominant
Tremor, Bradykinesia, Resting tremor OMIM:616710
Glaucoma 3, Primary Congenital, D
Corneal opacity, Primary congenital glaucoma, Ectopia lentis OMIM:613086
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Hepatomegaly, Abnormality of the kidney, Cystic renal dysplasia, Cataract, Ectopic kidney OMIM:613730
Autosomal Dominant Polycystic Kidney Disease
Nephrolithiasis, Chronic kidney disease, Decreased glomerular filtration rate, Abnormal urinary e... ORPHA:730
Microphthalmia, Isolated, With Coloboma 3
Iris coloboma, Cataract OMIM:610092
Dermatoosteolysis, Kirghizian Type
Keratitis, Skin ulcer, Nail dystrophy, Nail dysplasia OMIM:221810
Chilblain Lupus 1
Skin ulcer, Abnormality of the nail, Chilblains OMIM:610448
Dermatitis, Atopic
Recurrent skin infections, Pallor, Eczema, Atopic dermatitis, Dry skin, Facial erythema, Allergic... OMIM:603165
Chanarin-Dorfman Syndrome
Sensorineural hearing impairment, Subcapsular cataract, Ataxia, Alopecia, Microtia OMIM:275630
Pachydermoperiostosis
Elevated circulating growth hormone concentration, Eczematoid dermatitis, Abnormal hair quantity,... ORPHA:2796
Trichothiodystrophy 8, Nonphotosensitive
Protruding ear, Woolly hair, Sparse hair, Sparse eyebrow, Cutis laxa, Ankle clonus, Spastic diple... OMIM:619691
Acheiropodia
Aplasia of the ulna, Absent hand, Upper limb phocomelia, Short humerus, Abnormal epiphysis morpho... ORPHA:931
Cdkl5-Deficiency Disorder
Stereotypical hand wringing, Gait disturbance, Difficulty walking, Synophrys, Growth delay, Impai... ORPHA:505652
Congenital Heart Defect-Round Face-Developmental Delay Syndrome
Generalized hyperpigmentation, Hypopigmentation of hair, Short stature ORPHA:1355
Aniridia And Absent Patella
Aplasia/Hypoplasia of the patella, Cataract, Aniridia OMIM:106220
Spinocerebellar Ataxia Type 37
Dysdiadochokinesis, Myoclonus, Truncal ataxia, Limb dysmetria, Tremor, Cogwheel rigidity ORPHA:363710
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Decreased circulating androgen concentration, Abnormal external genitalia, Decreased circulating ... ORPHA:95699
Microphthalmia With Limb Anomalies
Sandal gap, Bowing of the long bones, Short long bone, Clinodactyly of the 5th finger, Talipes eq... ORPHA:1106
Myoclonic-Atonic Epilepsy
Tremor, Ataxia, Eyelid myoclonus OMIM:616421
Hyperprolinemia, Type I
Motor stereotypy, Hyperprolinemia, Ataxia OMIM:239500
Oculocerebral Hypopigmentation Syndrome, Cross Type
Sensorineural hearing impairment, Corneal opacity, Ataxia, Ocular albinism, Short stature, Hypopi... ORPHA:2719
Intellectual Developmental Disorder, Autosomal Recessive 39
Motor stereotypy, Short stature, Synophrys, Macrotia, Anteverted ears OMIM:615541
Mietens Syndrome
Coxa vara, Corneal opacity, Clinodactyly of the 5th finger, Coxa valga, Hypoplasia of the radius,... ORPHA:2557
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3
Ataxia, Dysmetria, Pes cavus, Hammertoe, Tremor, Gait ataxia OMIM:618387
Hereditary Mucoepithelial Dysplasia
Sparse hair, Alopecia, Hyperkeratosis, Cataract, Fine hair, Corneal dystrophy ORPHA:1839
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Acetabular spurs, Hepatomegaly, Chronic tubulointerstitial nephritis, Metaphyseal widening, Brach... OMIM:614376
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome
Abnormal antihelix morphology, Abnormal helix morphology, Sparse hair, Severe short stature, Alop... ORPHA:1005
Spastic Paraplegia 46, Autosomal Recessive
Upper limb spasticity, Impaired vibration sensation in the lower limbs, Upper limb dysmetria, Ank... OMIM:614409
Gm1 Gangliosidosis
Failure to thrive, Hirsutism, Generalized hirsutism, Corneal opacity, Ataxia, Short stature, Aspi... ORPHA:354
Coenzyme Q10 Deficiency, Primary, 4
Ataxia, Pes cavus, Abnormal pyramidal sign, Myoclonus, Tremor OMIM:612016
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Increased serum testosterone level, Decreased circulating aldosterone level, Hypoplasia of the ut... OMIM:202010
Bresek Syndrome
Low-set ears, Protruding ear, Cryptorchidism, Alopecia, Neonatal death, Iris coloboma, Decreased ... ORPHA:85284
Skin Fragility-Woolly Hair Syndrome
Failure to thrive, Woolly hair, Sparse eyebrow, Alopecia, Sparse eyelashes, Palmoplantar erythema... OMIM:607655
Intellectual Developmental Disorder, Autosomal Recessive 73
Recurrent hand flapping, Poor coordination, Gait ataxia, Low-set ears, Posteriorly rotated ears OMIM:619717
Cutis Laxa, Autosomal Dominant 3
Corneal opacity, Protruding ear, Cutis laxa, Developmental cataract, Premature skin wrinkling, Po... OMIM:616603
Microcephaly-Micromelia Syndrome
Forearm undergrowth, Talipes equinovarus, Micrognathia, Short tibia, Micromelia, Oligodactyly, Hu... OMIM:251230
Cystinosis
Motor stereotypy, Failure to thrive, Corneal opacity, Hypophosphatemia, Hypokalemia, Short statur... ORPHA:213
Immunodeficiency, Common Variable, 12, With Autoimmunity
Recurrent skin infections, Alopecia, Recurrent sinusitis, Recurrent pneumonia, Bronchiectasis, At... OMIM:616576
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome
Hypergonadotropic hypogonadism, Polycystic ovaries, Precocious puberty, Aplasia of the phalanges ... ORPHA:2229
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Ambiguous genitalia, female, Decreased circulating cortisol level, Increased circulating renin le... ORPHA:90791
Diaphanospondylodysostosis
Talipes equinovarus, Nephrogenic rest, Micrognathia, Cystic renal dysplasia, Enlarged kidney, Ham... OMIM:608022