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
tremors Slc30a4em1(IMPC)Tcp HOM   Late adult 7.76×10-06
cataract Slc30a4em1(IMPC)Tcp HOM Early adult 4.00×10-05
short tibia Slc30a4em1(IMPC)Tcp HOM Late adult 5.33×10-05
short tibia Slc30a4em1(IMPC)Tcp HOM Early adult 3.21×10-15
increased grip strength Slc30a4em1(IMPC)Tcp HOM Late adult 6.08×10-06
decreased grip strength Slc30a4em1(IMPC)Tcp HOM Early adult 1.53×10-05

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
Viewing: all phenotypes

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

Eye Morphology

Images Ophthalmoscopy

92 Images

Eye Morphology

Images Ophthalmoscopy

147 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

9 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

Histopathology

Images

11 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
Cataract 20, Multiple Types
Cataract, Membranous cataract OMIM:116100
Optic Atrophy 2
Dysdiadochokinesis, Tremor, Absent Achilles reflex, Babinski sign OMIM:311050
Primary Orthostatic Tremor
Tremor, Abnormality of extrapyramidal motor function ORPHA:238606
Syndactyly Type 4
6 metacarpals, Camptodactyly of finger, Hand polydactyly, Toe syndactyly, 1-5 finger syndactyly, ... ORPHA:93405
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
Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis
Spastic paraplegia, Tremor, Pes cavus, Palmoplantar hyperkeratosis OMIM:309560
Cataract 4, Multiple Types
Developmental cataract OMIM:115700
Cataract 39, Multiple Types
Developmental cataract OMIM:615188
Cataract 45
Developmental cataract OMIM:616851
Cataract 38
Developmental cataract OMIM:614691
Cataract 13 With Adult I Phenotype
Developmental cataract OMIM:116700
Cataract 37
Developmental cataract OMIM:614422
Tremor, Hereditary Essential, 6
Head tremor, Postural tremor, Kinetic tremor, Vocal tremor OMIM:618866
Tremor, Hereditary Essential, 5
Postural tremor, Kinetic tremor, Tongue tremor, Intention tremor OMIM:616736
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 3
Tremor, Slurred speech, Ataxia OMIM:613227
Episodic Ataxia, Type 1
Tremor, Incoordination, Episodic ataxia, Slurred speech, Spastic gait, Babinski sign OMIM:160120
Acromesomelic Dysplasia, Hunter-Thompson Type
Radial bowing, Hypoplasia of the radius, Abnormally shaped carpal bones, Hypoplasia of the ulna, ... OMIM:201250
Tremor, Hereditary Essential, 1
Postural tremor, Hand tremor, Action tremor OMIM:190300
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome
Foot oligodactyly, Tibial bowing, Syndactyly, Hand oligodactyly, Short tibia, Fibular aplasia OMIM:246570
Chondrodysplasia, Grebe Type
Hypoplasia of the radius, Short femur, Postaxial hand polydactyly, Short phalanx of finger, Hypop... OMIM:200700
Spinocerebellar Ataxia Type 15/16
Gait ataxia, Head tremor, Ataxia, Action tremor, Upper limb postural tremor, Tremor by anatomical... ORPHA:98769
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Short 4th metacarpal, Short 3rd metacarpal, Epiphyseal stippling, Limb undergrowth, Short long bo... OMIM:118651
Cataract And Congenital Ichthyosis
Cataract OMIM:212400
Osebold-Remondini Syndrome
Dysplastic distal radial epiphyses, Hypoplasia of the radius, Aplasia/Hypoplasia of the middle ph... OMIM:112910
Cochleosaccular Degeneration With Progressive Cataracts
Progressive cataract OMIM:120040
Tibial Torsion, Bilateral Medial
Abnormality of tibia morphology, Bowing of the legs, Tibial torsion OMIM:188800
Hypertrophic Neuropathy And Cataract
Cataract OMIM:239900
Erythrokeratodermia Variabilis
Skin rash, Abnormality of the nail, Irregular hyperpigmentation, Patchy palmoplantar hyperkeratos... ORPHA:317
Acromesomelic Dysplasia, Grebe Type
Postaxial hand polydactyly, Tarsal synostosis, Synostosis of carpal bones, Bowing of the long bon... ORPHA:2098
Acrocapitofemoral Dysplasia
Flared iliac wing, Short distal phalanx of finger, Cone-shaped epiphysis of the 1st metacarpal, C... OMIM:607778
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type
Short tibia, Hypoplasia of the radius, Pseudoarthrosis OMIM:156230
Glutathionuria
Tremor OMIM:231950
Gollop-Wolfgang Complex
Aplasia/Hypoplasia of the tibia, Hand monodactyly, Ectrodactyly, Aplasia/Hypoplasia of the ulna, ... ORPHA:1986
Episodic Ataxia With Slurred Speech
Tremor, Gait ataxia, Slurred speech ORPHA:401953
Congenital Non-Bullous Ichthyosiform Erythroderma
Hypohidrosis, Pruritus, Abnormality of the nail, Palmoplantar keratoderma, Corneal erosion, Eryth... ORPHA:79394
Acheiropody
Absent hand, Carpal bone aplasia, Lower limb peromelia, Aplasia of the ulna, Short humerus, Perom... OMIM:200500
Langer Mesomelic Dysplasia
Radial bowing, Hypoplasia of the radius, Rudimentary fibula, Mesomelia, Hypoplasia of the ulna, S... OMIM:249700
Aniridia 3
Cataract OMIM:617142
Neuronopathy, Distal Hereditary Motor, Type Viia
Tremor, Vocal cord paresis, Vocal cord paralysis, Pes cavus OMIM:158580
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness
Cataract, Short thumb OMIM:274205
Autosomal Recessive Spastic Paraplegia Type 71
Lower limb spasticity, Spastic gait, Babinski sign, Hand tremor, Progressive spastic paraplegia ORPHA:401840
Corneal Dystrophy, Groenouw Type I
Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy, Granular corneal dystrophy OMIM:121900
Tremor, Hereditary Essential, 4
Postural tremor, Action tremor OMIM:614782
Spinocerebellar Ataxia 20
Postural tremor, Gait ataxia, Palatal myoclonus, Limb ataxia, Abnormal pyramidal sign, Action tremor OMIM:608687
Parkinsonism With Spasticity, X-Linked
Cogwheel rigidity, Resting tremor, Bradykinesia, Parkinsonism, Babinski sign, Spasticity OMIM:300911
Lethal Faciocardiomelic Dysplasia
Radial club hand, Hypoplasia of the radius, Microretrognathia, Hypoplasia of the ulna, Sandal gap... ORPHA:1972
Cataract 12, Multiple Types
Developmental cataract, Progressive cataract OMIM:611597
Mesomelic Dysplasia, Savarirayan Type
Dislocated radial head, Talipes equinovalgus, Mesomelia, Short tibia, Hip dislocation, Fibular ap... OMIM:605274
Leri-Weill Dyschondrosteosis
Radial bowing, Short 4th metacarpal, Hypoplasia of the radius, Short toe, Abnormal metatarsal mor... OMIM:127300
Parkinson Disease 13, Autosomal Dominant, Susceptibility To
Tremor, Rigidity, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia OMIM:610297
Fibular Hemimelia
Hip subluxation, Structural foot deformity, Bowing of the legs, Abnormality of fibula morphology,... ORPHA:93323
Dystonia 3, Torsion, X-Linked
Chorea, Tremor, Myoclonus, Parkinsonism with favorable response to dopaminergic medication OMIM:314250
Spinocerebellar Ataxia 43
Tremor, Gait ataxia, Limb ataxia, Ataxia, Pes cavus, Rigidity OMIM:617018
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay
Tremor, Ataxia OMIM:213000
Mental Retardation, Autosomal Recessive 6
Involuntary movements, Tremor, Myoclonus OMIM:611092
Leukoencephalopathy with metaphyseal chondrodysplasia
Spastic paraplegia, Tremor, Metaphyseal chondrodysplasia, Babinski sign OMIM:300660
Hydrocephaly-Cerebellar Agenesis Syndrome
Cataract ORPHA:1397
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density
Hypoplasia of the radius, Short femur, Lytic defects of humeral diaphysis, Hypoplasia of the ulna... OMIM:601376
Transgrediens Et Progrediens Palmoplantar Keratoderma
Generalized hyperkeratosis, Thin fingernail, Palmoplantar keratoderma, Erythema, Dry skin, Hyperh... ORPHA:495
Graham Little-Piccardi-Lassueur Syndrome
Pruritus, Sparse axillary hair, Sparse scalp hair, Sparse pubic hair, Alopecia, Perifollicular hy... ORPHA:505
Léri-Weill Dyschondrosteosis
Abnormality of tibia morphology, Dorsal subluxation of ulna, Abnormality of the carpal bones, Abn... ORPHA:240
Parkinson Disease 11, Autosomal Dominant, Susceptibility To
Rigidity, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Bradyk... OMIM:607688
Hypoplastic Tibiae-Postaxial Polydactyly Syndrome
Triphalangeal thumb, Camptodactyly of finger, Postaxial hand polydactyly, Preaxial hand polydacty... ORPHA:3332
Blount Disease
Abnormality of the knee, Abnormality of the tibial metaphysis, Abnormality of the proximal tibial... ORPHA:2768
Parkinson Disease 15, Autosomal Recessive Early-Onset
Tremor, Parkinsonism with favorable response to dopaminergic medication, Abnormality of extrapyra... OMIM:260300
Aldh18A1-Related De Barsy Syndrome
Cataract ORPHA:35664
Spinal Muscular Atrophy, Jokela Type
Tremor, Pes planus, Pes cavus, Fasciculations, Hammertoe, Calf muscle hypertrophy OMIM:615048
Zinc Deficiency, Transient Neonatal
Eczema, Decreased serum zinc, Alopecia OMIM:608118
Laurin-Sandrow Syndrome
Absent tibia, Hand polydactyly, Fibular duplication, Short foot, Absent radius, Syndactyly, Patel... OMIM:135750
Trichomegaly
Cataract OMIM:190330
Cerebellar Ataxia And Ectodermal Dysplasia
Alopecia, Sparse hair, Ataxia OMIM:212835
Odonto-Onycho Dysplasia-Alopecia Syndrome
Hypoplastic toenails, Sparse hair, Palmoplantar keratoderma, Sparse and thin eyebrow, Alopecia, S... ORPHA:2722
Spinal Muscular Atrophy-Dandy-Walker Malformation-Cataracts Syndrome
Cataract ORPHA:73245
Gómez-López-Hernández Syndrome
Corneal opacity, Ataxia, Low-set ears, Alopecia of scalp, Toenail dysplasia, Short stature, Impai... ORPHA:1532
Absence Deformity Of Leg-Cataract Syndrome
Abnormality of epiphysis morphology, Cataract, Lower limb undergrowth, Abnormality of femur morph... ORPHA:2310
Developmental And Epileptic Encephalopathy 32
Tremor, Myoclonus, Ataxia OMIM:616366
Skeletal Defects, Genital Hypoplasia, And Mental Retardation
Short femur, Hypoplasia of the ulna, Aplasia/Hypoplasia of the radius, Fibular hypoplasia, Absent... OMIM:612447
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Tremor, Babinski sign, Ataxia, Spasticity OMIM:611105
Intellectual Developmental Disorder With Poor Growth And With Or Without Seizures Or Ataxia
Developmental cataract, Gait ataxia, Incoordination, Fair hair, Increased LDL cholesterol concent... OMIM:618808
Dyschondrosteosis And Nephritis
Radial bowing, Short tibia, Ulnar bowing, Short forearm OMIM:127350
Oliver-Mcfarlane Syndrome
Cryptorchidism, Central heterochromia, Sparse hair, Pigmentary retinopathy, Long eyelashes, Sever... OMIM:275400
Leukoencephalopathy, Brain Calcifications, And Cysts
Hemiplegia, Tremor, Abnormality of extrapyramidal motor function, Abnormal pyramidal sign, Ataxia... OMIM:614561
Kerion Celsi
Recurrent skin infections, Recurrent cutaneous abscess formation, Alopecia, Inflammatory abnormal... ORPHA:499
Endove Syndrome, Limb-Only Type
Cutaneous syndactyly of toes, Aplasia of the distal phalanges of the toes, Short middle phalanx o... OMIM:619217
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss
Tremor, Abnormal foot morphology OMIM:614369
Dyskinesia, Limb And Orofacial, Infantile-Onset
Tremor, Chorea, Hyperkinetic movements, Hemiballismus, Frequent falls OMIM:616921
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia
Palmoplantar keratoderma, Congenital alopecia totalis, Fingernail dysplasia, Palmoplantar hyperke... ORPHA:1010
Pupillary Membrane, Persistence Of
Persistent pupillary membrane, Developmental cataract, Megalocornea OMIM:178900
Flynn-Aird Syndrome
Progressive sensorineural hearing impairment, Hyperkeratosis, Ataxia, Alopecia of scalp, Cataract... OMIM:136300
Tremor, Hereditary Essential, 2
Kinetic tremor, Upper limb postural tremor OMIM:602134
Spastic Paraparesis-Deafness Syndrome
Spastic paraparesis, Gait disturbance, Ataxia, Hemiplegia/hemiparesis, Cataract, Sensorineural he... ORPHA:2815
Hypotrichosis 4
Sparse hair, Sparse and thin eyebrow, Alopecia, Sparse body hair, Pili torti, Sparse eyelashes OMIM:146550
Olmsted Syndrome 1
Pruritus, Sparse hair, Palmoplantar keratoderma, Corneal opacity, Nail dysplasia, Subungual hyper... OMIM:614594
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis
Hypohidrosis, Growth delay, Nail dysplasia, Cataract, Erysipelas, Delayed puberty, Alopecia, Elev... OMIM:615704
Spinocerebellar Ataxia Type 31
Tremor, Gait ataxia, Spasticity ORPHA:217012
Cataract-Microcornea Syndrome
Iris coloboma, Corneal opacity, Cataract, Microcornea, Corneal dystrophy ORPHA:1377
Spinocerebellar Degeneration-Corneal Dystrophy Syndrome
Corneal opacity, Ataxia, Progressive cerebellar ataxia, Upper motor neuron dysfunction, Corneal d... ORPHA:3177
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly
Absent tibia, Split hand, Aplasia of the ulna, Foot monodactyly, Hand monodactyly, Bifid femur OMIM:228250
Nathalie Syndrome
Cataract ORPHA:2663
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities
Cataract OMIM:300719
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Tremor, Chorea, Hyperkinetic movements, Ataxia, Torticollis OMIM:618425
Dyskeratosis Congenita, Autosomal Recessive 6
Abnormality of skin pigmentation, Sparse hair, Ataxia, Failure to thrive, Alopecia, Intrauterine ... OMIM:616353
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome
Synostosis of carpal bones, Aplasia/Hypoplasia of the tibia, Aplasia/Hypoplasia of the thumb, Pat... ORPHA:988
Hypotrichosis Simplex
Sparse hair, Sparse scalp hair, Sparse and thin eyebrow, Alopecia, Sparse body hair, Sparse eyela... ORPHA:55654
Perifolliculitis Capitis Abscedens Et Suffodiens, Familial
Alopecia of scalp, Perifolliculitis, Alopecia OMIM:260910
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement
Frequent falls, Chorea, Tremor, Hemiballismus ORPHA:494526
Segawa Syndrome, Autosomal Recessive
Tremor, Gait ataxia, Parkinsonism with favorable response to dopaminergic medication, Abnormality... OMIM:605407
Alopecia Areata 1
Nail pits, Trachyonychia, Alopecia totalis, Patchy alopecia, Alopecia universalis OMIM:104000
Slc39A8-Cdg
Inability to walk, Hypomanganesemia, Dystonia, Failure to thrive in infancy, Low-set ears, Hearin... ORPHA:468699
Bathing Suit Ichthyosis
Hypohidrosis, Sparse hair, Erythroderma, Impaired temperature sensation, Scaling skin, Alopecia, ... ORPHA:100976
Cataract-Nephropathy-Encephalopathy Syndrome
Cataract ORPHA:1380
Hypotrichosis 5
Absent pubic hair, Absent axillary hair, Alopecia, Thin eyebrow, Sparse eyelashes OMIM:612841
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
Abnormal eyelash morphology, Periodontitis, Melanocytic nevus, Sparse scalp hair, Hearing impairm... ORPHA:1008
Tibial Aplasia-Ectrodactyly Syndrome
Postaxial hand polydactyly, Short femur, Preaxial hand polydactyly, Abnormality of femur morpholo... ORPHA:3329
Epilepsy, Progressive Myoclonic 7
Tremor, Myoclonus, Ataxia OMIM:616187
Spinocerebellar Ataxia 37
Tremor, Frequent falls, Ataxia OMIM:615945
Ectodermal Dysplasia-Blindness Syndrome
Abnormality of skin pigmentation, Hypohidrosis, Sparse hair, Abnormal fingernail morphology, Hype... ORPHA:1806
Alopecia Areata 2
Alopecia of scalp, Alopecia totalis, Patchy alopecia, Alopecia universalis OMIM:610753
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies
Sparse hair, Hypothyroidism, Posteriorly rotated ears, Low-set ears, Sensorineural hearing impair... OMIM:617763
Ichthyosis, Hystrix-Like, With Deafness
Absent eyelashes, Palmoplantar keratoderma, Hyperkeratosis, Erythroderma, Scarring alopecia of sc... OMIM:602540
Epidermolysis Bullosa Simplex, Generalized, With Scarring And Hair Loss
Diffuse palmoplantar hyperkeratosis, Alopecia of scalp, Alopecia, Dystrophic toenail, Sparse body... OMIM:617294
Tietz Syndrome
Abnormality of skin pigmentation, Hypopigmentation of hair, White eyebrow, Hearing impairment, Ab... ORPHA:42665
Spastic Paraparesis And Deafness
Tremor, Spastic paraparesis OMIM:312910
Orofaciodigital Syndrome Type 10
Mesomelic arm shortening, Prominent calcaneus, Fibular aplasia, Oligodactyly, Tarsal synostosis, ... ORPHA:2756
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay
Cataract, Developmental cataract OMIM:613076
Spinocerebellar Ataxia Type 20
Kinetic tremor, Gait ataxia, Isometric tremor, Abnormal pyramidal sign, Ataxia, Bradykinesia, Upp... ORPHA:101110
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Decreased plasma carnitine, Absent toenail, Abnormal circulating selenium concentration, Irregula... ORPHA:89842
Spinocerebellar Ataxia, X-Linked 5
Ataxia, Action tremor OMIM:300703
Trichothiodystrophy 1, Photosensitive
Freckling, Small nail, Sparse hair, Hyperkeratosis, Erythroderma, Tiger tail banding, Cataract, D... OMIM:601675
Moynahan Syndrome
Sparse hair, Hyperkeratosis, Sensorineural hearing impairment, Cachexia, Short stature, Alopecia ORPHA:2574
Spastic Ataxia 2, Autosomal Recessive
Tremor, Gait ataxia, Spastic ataxia, Head titubation, Dysmetria, Babinski sign, Fasciculations, F... OMIM:611302
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Hypohidrosis, Cryptorchidism, Absent eyelashes, Erythroderma, Scaling skin, Absent eyebrow, Nail ... OMIM:308205
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Kinetic tremor, Tremor OMIM:611808
Leg, Absence Deformity Of, With Congenital Cataract
Abnormality of the lower limb, Developmental cataract, Progressive cataract, Duplication involvin... OMIM:246000
Alpha-N-Acetylgalactosaminidase Deficiency Type 3
Cataract ORPHA:79281
Hyperphenylalaninemia, Bh4-Deficient, D
Tremor, Hypertonia OMIM:264070
Hypotrichosis 11
Sparse hair, Absent axillary hair, Sparse or absent eyelashes, Alopecia, Aplasia/Hypoplasia of th... OMIM:615059
Candidiasis, Familial, 1
Alopecia, Chronic mucocutaneous candidiasis OMIM:114580
Mental Retardation, Autosomal Dominant 55, With Seizures
Tremor, Gait ataxia OMIM:617831
Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination
Difficulty walking, Cataract, Failure to thrive, Stereotypy, Spasticity OMIM:617393
Intellectual Developmental Disorder, X-Linked, Syndromic, Armfield Type
Cataract, Small hand, Abnormal hand morphology, Short foot OMIM:300261
Spondyloepimetaphyseal Dysplasia, Missouri Type
Metaphyseal irregularity, Tibial bowing, Flared metaphysis, Flattened epiphysis, Genu varum, Shor... ORPHA:93356
Pili Torti-Onychodysplasia Syndrome
Trichodysplasia, Absent eyelashes, Congenital onychodystrophy, Palmoplantar keratoderma, Absent e... ORPHA:2890
Spinocerebellar Ataxia, Autosomal Recessive 4
Tremor, Gait ataxia, Ataxia, Pes cavus, Myoclonus, Babinski sign, Fasciculations, Frequent falls,... OMIM:607317
Paralysis Agitans, Juvenile, Of Hunt
Tremor, Parkinsonism, Rigidity, Bradykinesia OMIM:168100
Alopecia, Psychomotor Epilepsy, Pyorrhea, And Mental Subnormality
Periodontitis, Congenital alopecia totalis, Alopecia universalis OMIM:104130
Palmoplantar Keratoderma And Congenital Alopecia 2
Developmental cataract, Facial erythema, Palmoplantar hyperkeratosis, Hyperkeratosis, Nail dyspla... OMIM:212360
Lamellar Ichthyosis
Pruritus, Abnormality of the nail, Sparse hair, Hyperkeratosis, Erythroderma, Chronic otitis medi... ORPHA:313
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Tremor, Chorea, Ataxia, Parkinsonism, Myoclonus, Upper motor neuron dysfunction, Rigidity ORPHA:401901
Alopecia Universalis
Absent eyelashes, Patchy alopecia, Alopecia universalis, Absent eyebrow ORPHA:701
Dystonia, Dopa-Responsive
Dysdiadochokinesis, Postural tremor, Cogwheel rigidity, Gait ataxia, Incoordination, Parkinsonism... OMIM:128230
Foveal Hypoplasia-Presenile Cataract Syndrome
Cataract ORPHA:2253
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive
Keratoconus, Erythroderma, Conjunctivitis, Sensorineural hearing impairment, Alopecia, Failure to... OMIM:242150
Classic Mycosis Fungoides
Skin rash, Pruritus, Abnormality of the nail, Irregular hyperpigmentation, Hyperkeratosis, Erythe... ORPHA:2584
Dysequilibrium Syndrome
Gait disturbance, Ataxia, Cataract, Short stature, Cerebral palsy ORPHA:1766
Epilepsy, Progressive Myoclonic, 1B
Tremor, Babinski sign, Dysmetria OMIM:612437
Leukodystrophy, Hypomyelinating, 11
Tremor, Ataxia, Spasticity OMIM:616494
Split-Hand/Foot Malformation With Long Bone Deficiency 1
Short hallux, Absent tibia, Split hand, Hand monodactyly, Split foot, Patellar aplasia, Aplasia o... OMIM:119100
Galactosemia Iv
Cataract OMIM:618881
Parkinson Disease 17
Tremor, Resting tremor, Bradykinesia, Parkinsonism, Rigidity OMIM:614203
Ulerythema Ophryogenesis
Abnormal eyebrow morphology, Erythema, Follicular hyperkeratosis, Alopecia, Inflammatory abnormal... ORPHA:3406
Spinocerebellar Ataxia 18
Dysdiadochokinesis, Tremor, Progressive gait ataxia, Pes cavus, Babinski sign, Dysmetria OMIM:607458
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome
Onychogryposis of fingernail, Sparse hair, Palmoplantar keratoderma, Ridged fingernail, Fingernai... ORPHA:2251
Clouston Syndrome
Small nail, Onycholysis, Palmoplantar hyperkeratosis, Absent pubic hair, Absent axillary hair, Sl... OMIM:129500
Thumb Deformity And Alopecia
Short stature, Alopecia, Increased groin pigmentation with raindrop depigmentation OMIM:188150
Flynn-Aird Syndrome
Progressive sensorineural hearing impairment, Primary adrenal insufficiency, Ataxia, Cataract, Ca... ORPHA:2047
Aniridia And Absent Patella
Aniridia, Cataract, Aplasia/Hypoplasia of the patella OMIM:106220
X-Linked Retinoschisis
Cataract ORPHA:792
Spinocerebellar Ataxia Type 14
Tremor, Gait ataxia, Limb ataxia, Hyporeflexia of lower limbs, Progressive cerebellar ataxia, Myo... ORPHA:98763
L-Ferritin Deficiency
Decreased circulating ferritin concentration, Alopecia OMIM:615604
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly
Polydactyly, Absent tibia OMIM:188740
Trichothiodystrophy 3, Photosensitive
Erythroderma, Tiger tail banding, Cataract, Brittle hair, Short stature OMIM:616395
Tibial Hemimelia
Radial club hand, Tarsal synostosis, Polydactyly, Split hand, Metatarsus adductus, Absent radius,... ORPHA:93322
Growth Delay-Intellectual Disability-Hepatopathy Syndrome
Esophagitis, Dermal translucency, Growth delay, Decreased serum zinc, Sensorineural hearing impai... ORPHA:541423
Epidermolysis Bullosa Simplex With Mottled Pigmentation
Mottled pigmentation, Spotty hypopigmentation, Hyperkeratotic papule, Mixed hypo- and hyperpigmen... ORPHA:79397
Bardet-Biedl Syndrome 18
Cataract, Brachydactyly OMIM:615995
Ectodermal Dysplasia 6, Hair/Nail Type
Thin toenail, Sparse hair, Alopecia, Dystrophic toenail OMIM:614928
Du Pan Syndrome
Fibular aplasia, Short metatarsal, Short phalanx of finger, Rhizomelia, Talipes equinovalgus, Bra... OMIM:228900
Spinocerebellar Ataxia, Autosomal Recessive 16
Tremor, Truncal ataxia, Limb ataxia, Ankle clonus, Babinski sign, Spasticity OMIM:615768
Split-Hand With Congenital Nystagmus, Fundal Changes, And Cataracts
Cataract, Hand monodactyly, Split foot, Split hand OMIM:183800
Cataract 1, Multiple Types
Developmental cataract, Pulverulent cataract, Nuclear cataract, Posterior subcapsular cataract, M... OMIM:116200
Parkinson Disease 22, Autosomal Dominant
Tremor, Resting tremor, Bradykinesia OMIM:616710
Rhizomelic Chondrodysplasia Punctata, Type 1
Developmental cataract, Elevated levels of phytanic acid, Rhizomelia, Severe short stature, Senso... OMIM:215100
N-Acetylaspartate Deficiency
Truncal ataxia, Decreased body weight, Unsteady gait, Short stature, Stereotypy OMIM:614063
Corneal Dystrophy-Perceptive Deafness Syndrome
Sensorineural hearing impairment, Corneal opacity, Corneal dystrophy ORPHA:1490
Lichtenstein-Knorr Syndrome
Dysdiadochokinesis, Gait ataxia, Limb ataxia, Ataxia, Action tremor, Dysmetria OMIM:616291
Classic Phenylketonuria
Hemiplegia, Tremor, Hypopigmentation of hair, Hypertonia, Hyperphenylalaninemia, Growth delay, Ca... ORPHA:79254
Orofaciodigital Syndrome Viii
Polydactyly, Short tibia, Syndactyly OMIM:300484
Dystonia 27
Postural tremor, Action tremor OMIM:616411
Microphthalmia, Isolated, With Coloboma 3
Cataract, Iris coloboma OMIM:610092
X-Linked Intellectual Disability, Stocco Dos Santos Type
Hirsutism, Cataract, Small for gestational age, Short stature, Hyperactivity ORPHA:85288
Spinocerebellar Ataxia Type 38
Tremor, Gait ataxia ORPHA:423296
Microphthalmia, Isolated, With Cataract 1
Cataract OMIM:156850
Ichthyosis, Congenital, Autosomal Recessive 11
Hypohidrosis, Sparse hair, Hyperkeratosis, Curly hair, Corneal opacity, Sparse and thin eyebrow, ... OMIM:602400
Acrofacial Dysostosis Syndrome Of Rodriguez
Triphalangeal thumb, Oligodactyly, Overlapping toe, Fibular hypoplasia, Clinodactyly, 11 pairs of... OMIM:201170
Metaphyseal Chondrodysplasia, Schmid Type
Irregular acetabular roof, Metaphyseal chondrodysplasia, Short middle phalanx of finger, Metaphys... OMIM:156500
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Hypopigmentation of hair, Persistent pupillary membrane, Aplasia/Hypoplasia of the iris, Corneal ... ORPHA:1067
Autosomal Dominant Spastic Ataxia Type 1
Spastic paraplegia, Tremor, Leg muscle stiffness, Spastic ataxia, Limb ataxia, Hypertonia, Spasti... ORPHA:251282
Ataxia, Spastic, Childhood-Onset, Autosomal Recessive, With Optic Atrophy And Mental Retardation
Tremor, Clumsiness, Spastic ataxia, Poor coordination, Ankle clonus, Dysmetria, Babinski sign, Sp... OMIM:270500
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia
Hypohidrosis, Abnormal hair morphology, Dry skin, Alopecia, Abnormal toenail morphology, Fine hai... ORPHA:248
Alopecia Totalis
Alopecia of scalp, Alopecia ORPHA:700
Myoclonic-Atonic Epilepsy
Tremor, Eyelid myoclonus, Ataxia OMIM:616421
Optic Atrophy 3, Autosomal Dominant
Tremor, Abnormality of extrapyramidal motor function OMIM:165300
Alopecia-Epilepsy-Oligophrenia Syndrome Of Moynahan
Sparse hair, Alopecia OMIM:203600
Alopecia Universalis Congenita
Alopecia universalis, Alopecia OMIM:203655
Sézary Syndrome
Pruritus, Tremor, Irregular hyperpigmentation, Palmoplantar keratoderma, Erythroderma, Alopecia, ... ORPHA:3162
Cataract 9, Multiple Types
Developmental cataract, Iris coloboma, Cataract, Microcornea, Progressive cataract OMIM:604219
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome
Melanocytic nevus, Central adrenal insufficiency, Adrenal insufficiency, Delayed puberty, Hyperpi... OMIM:612079
Spinocerebellar Ataxia Type 12
Postural tremor, Limb dysmetria, Poor fine motor coordination, Abnormal pyramidal sign, Ataxia, B... ORPHA:98762
Adult Neuronal Ceroid Lipofuscinosis
Tremor, Clumsiness, Abnormality of extrapyramidal motor function, Abnormal pyramidal sign, Ataxia... ORPHA:79262
Chorea, Remitting, With Nystagmus And Cataract
Cataract OMIM:601372
X-Linked Agammaglobulinemia
Skin rash, Recurrent pneumonia, Hypocalcemia, Chronic otitis media, Weight loss, Hypopigmented sk... ORPHA:47
Tibia, Absence Of, With Congenital Deafness
Absent tibia OMIM:275230
Pseudoprogeria Syndrome
Sparse hair, Absent eyelashes, Progressive spastic quadriplegia, Growth delay, Absent eyebrow, De... ORPHA:2985
Parc Syndrome
Alopecia, Absent eyelashes, Absent eyebrow OMIM:600331
Parkinson Disease 19A, Juvenile-Onset
Tremor, Abnormal pyramidal sign, Bradykinesia, Parkinsonism, Rigidity, Spasticity OMIM:615528
Tibial Hemimelia
Absent tibia OMIM:275220
Mesomelic Dysplasia, Savarirayan Type
Broad tibial metaphyses, Bowing of the long bones, Narrow iliac wing, Mesomelia, Glenoid fossa hy... ORPHA:85170
Alopecia, Congenital
Sparse hair, Alopecia OMIM:300042
Genetic Hyperferritinemia Without Iron Overload
Cataract ORPHA:254704
Acheiropodia
Absent hand, Upper limb phocomelia, Abnormality of epiphysis morphology, Aplasia of the ulna, Sho... ORPHA:931
Mental Retardation, Autosomal Recessive 39
Anteverted ears, Macrotia, Synophrys, Stereotypy, Hyperactivity, Short stature OMIM:615541
Familial Reactive Perforating Collagenosis
Pruritus, Hyperkeratotic papule, Perifolliculitis, Maculopapular exanthema, Abnormality of the pi... ORPHA:79147
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Cataract, Microcornea, Aniridia OMIM:106230
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Aplasia/Hypoplasia of the 5th finger, Congenital hip dislocation, Femoral bowing, Aplasia/Hypopla... OMIM:228930
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Tremor, Abnormality of extrapyramidal motor function, Ataxia, Myoclonus, Babinski sign OMIM:615362
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant
Folliculitis, Facial erythema, Palmoplantar keratoderma, Scarring alopecia of scalp, Nail dysplas... OMIM:612843
Spastic Paraplegia 6, Autosomal Dominant
Spastic paraplegia, Tremor, Lower limb spasticity, Spastic gait, Pes cavus, Babinski sign, Clonus OMIM:600363
Hidrotic Ectodermal Dysplasia
Irregular hyperpigmentation, Onycholysis, Sparse hair, Palmoplantar keratoderma, Hyperconvex nail... ORPHA:189
Epilepsy, Familial Adult Myoclonic, 4
Tremor, Myoclonus OMIM:615127
Chondrodysplasia Punctata 2, X-Linked Dominant
Sparse hair, Erythroderma, Elevated 8-dehydrocholesterol, Abnormality of the pinna, Postnatal gro... OMIM:302960
Deafness-Craniofacial Syndrome
Hearing impairment, Alopecia OMIM:125230
Spinocerebellar Ataxia, X-Linked 1
Action tremor, Ataxia, Intention tremor OMIM:302500
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia
Short phalanx of finger, Aplasia/Hypoplasia of the fibula, Split foot, Fibular aplasia, Brachydac... OMIM:113310
Primary Dystonia, Dyt13 Type
Postural tremor, Dystonia, Torsion dystonia, Action tremor, Craniofacial dystonia, Torticollis, G... ORPHA:98807
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Stereotypy, Tremor, Short stature, Ataxia OMIM:617862
Thanatophoric Dysplasia, Glasgow Variant
Cataract, Micromelia OMIM:273680
Behr Syndrome
Tremor, Ataxia, Achilles tendon contracture, Dysmetria, Babinski sign, Progressive spasticity OMIM:210000
Rothmund-Thomson Syndrome, Type 1
Sparse hair, Absent eyelashes, Hyperkeratosis, Hypothyroidism, Recurrent otitis media, Absent eye... OMIM:618625
Stuve-Wiedemann Syndrome
Short phalanx of finger, Micrognathia, Femoral bowing, Thickened cortex of long bones, Short long... OMIM:601559
Dwarfism With Stiff Joints And Ocular Abnormalities
Short phalanx of finger, Delayed ossification of carpal bones, Cataract, Lower limb undergrowth, ... OMIM:127200
Cataract 15, Multiple Types
Developmental cataract, Nuclear cataract, Cataract, Lamellar cataract, Cortical cataract OMIM:615274
Galactosialidosis
Hearing impairment, Corneal opacity ORPHA:351
Migraine, Familial Hemiplegic, 1
Hemiplegia, Tremor, Hemiparesis, Ataxia OMIM:141500
Neuroectodermal Melanolysosomal Disease
Tremor, Hypopigmentation of hair, Premature graying of hair, Hypertonia, Ataxia, Generalized hype... ORPHA:33445
Megalocornea
Decreased corneal thickness, Mosaic corneal dystrophy, Deep anterior chamber, Iridodonesis, Catar... OMIM:309300
Quinquaud Folliculitis Decalvans
Pustule, Abnormal hair morphology, Scarring alopecia of scalp, Erythema, Patchy alopecia, Recurre... ORPHA:346
Galactosemia Ii
Cataract OMIM:230200
Bullous Dystrophy, Hereditary Macular Type
Alopecia totalis, Abnormality of the nail, Hyperpigmentation of the skin, Severe short stature OMIM:302000
Autism Spectrum Disorder Due To Auts2 Deficiency
Cryptorchidism, Highly arched eyebrow, Hypertonia, Low-set ears, Small for gestational age, Stere... ORPHA:352490
Apolipoprotein A-I Deficiency
Hemiplegia/hemiparesis, Corneal opacity, Decreased HDL cholesterol concentration ORPHA:425
Chromosome 3Q29 Deletion Syndrome
Gait ataxia, Macrotia, Posteriorly rotated ears, Low-set ears, Small for gestational age, Stereot... OMIM:609425
Alpha-Methylacyl-Coa Racemase Deficiency
Tremor, Ataxia, Spasticity OMIM:614307
Holocarboxylase Synthetase Deficiency
Lethargy, Growth delay, Perioral eczema, Weight loss, Ataxia, Alopecia, Eczema, Hyperammonemia, K... ORPHA:79242
Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome
Hypohidrosis, Hypothyroidism, Melanocytic nevus, Sparse scalp hair, Sparse and thin eyebrow, Alop... ORPHA:1882
Congenital Disorder Of Glycosylation, Type If
Hyperkeratosis, Erythroderma, Hypertonia, Scaling skin, Ataxia, Failure to thrive, Dry skin OMIM:609180
X-Linked Non Progressive Cerebellar Ataxia
Truncal ataxia, Clumsiness, Action tremor, Intention tremor, Frequent falls, Spastic dysarthria, ... ORPHA:314978
Trichodysplasia-Xeroderma Syndrome
Trichodysplasia, Coarse hair, Sparse scalp hair, Sparse and thin eyebrow, Brittle hair, Alopecia,... ORPHA:3361
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism
Cataract OMIM:254000
Ichthyosis, Congenital, Autosomal Recessive 2
Hypohidrosis, Small nail, Abnormal hair morphology, Palmoplantar keratoderma, Hyperkeratosis, Gro... OMIM:242100
Griscelli Syndrome, Type 3
Silver-gray hair, Large clumps of pigment irregularly distributed along hair shaft, White eyelashes OMIM:609227
Hyperzincemia With Functional Zinc Depletion
Increased serum zinc, Skin rash OMIM:601979
Cerebral Arteriopathy, Autosomal Recessive, With Subcortical Infarcts And Leukoencephalopathy
Abnormality of extrapyramidal motor function, Gait disturbance, Ataxia, Babinski sign, Alopecia, ... OMIM:600142
Microcephalic Primordial Dwarfism, Toriello Type
Short proximal phalanx of thumb, Short middle phalanx of finger, Short proximal phalanx of hallux... OMIM:251190
Severe Combined Immunodeficiency Due To Foxn1 Deficiency
Ridged nail, Nail pits, Congenital alopecia totalis ORPHA:169095
Netherton Syndrome
Skin rash, Irregular hyperpigmentation, Abnormal hair morphology, Erythroderma, Sparse scalp hair... ORPHA:634
Parkinson Disease 2, Autosomal Recessive Juvenile
Tremor, Parkinsonism, Rigidity, Bradykinesia OMIM:600116
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency
Postural tremor, Truncal ataxia, Iridocyclitis, Speech apraxia, Head tremor, Limb ataxia, Hypothy... ORPHA:412057
Copper Deficiency, Familial Benign
Seborrheic dermatitis, Abnormal circulating copper concentration, Decreased circulating copper co... OMIM:121270
Spinocerebellar Ataxia, Autosomal Recessive 17
Tremor, Truncal ataxia, Dysmetria OMIM:616127
Leukoencephalopathy, Progressive, With Ovarian Failure
Tremor, Apraxia, Ataxia, Spasticity OMIM:615889
Alopecia-Intellectual Disability-Hypergonadotropic Hypogonadism Syndrome
Alopecia totalis ORPHA:1014
Hereditary Bullous Dystrophy, Macular Type
Congenital abnormal hair pattern, Cryptorchidism, Atrichia, Spotty hypopigmentation, Growth delay... ORPHA:1867
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Sparse hair, Palmoplantar keratoderma, Acantholysis, Erythroderma, Hypernatremia, Growth delay, O... OMIM:615508
Corneodermatoosseous Syndrome
Onycholysis, Erythroderma, Short stature, Corneal dystrophy, Palmoplantar hyperkeratosis OMIM:122440
Alopecia, Familial Focal
Patchy alopecia OMIM:104110
Charcot-Marie-Tooth Disease, Axonal, Type 2X
Tremor, Pes cavus, Abnormal foot morphology, Ankle flexion contracture OMIM:616668
Xeroderma Pigmentosum, Complementation Group G
Tremor, Pes cavus, Ataxia, Spasticity OMIM:278780
Pityriasis Rubra Pilaris
Pruritus, Pustule, Abnormality of the nail, Irregular hyperpigmentation, Palmoplantar keratoderma... ORPHA:2897
Alopecia-Mental Retardation Syndrome 2
Alopecia universalis OMIM:610422
Alopecia-Mental Retardation Syndrome 3
Alopecia universalis OMIM:613930
Spinocerebellar Ataxia, X-Linked 4
Tremor, Abnormal pyramidal sign, Ataxia OMIM:301840
Alopecia-Mental Retardation Syndrome 1
Alopecia universalis OMIM:203650
Alopecia, Androgenetic, 1
Alopecia OMIM:109200
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome
Oromotor apraxia, Overweight, Hypoplastic helices, Hypothyroidism, Recurrent otitis media, Decrea... ORPHA:391372
Spinocerebellar Ataxia, Autosomal Recessive 2
Tremor, Gait ataxia, Incoordination, Limb ataxia, Ataxia, Pes cavus, Dysmetria, Spasticity OMIM:213200
Autosomal Dominant Epidermolytic Ichthyosis
Palmoplantar keratoderma, Hyperkeratosis, Erythroderma, Weight loss, Conjunctival hamartoma, Skin... ORPHA:312
Ichthyosis With Confetti
Hyperkeratosis, Erythroderma, Hypertrichosis, Palmoplantar hyperkeratosis OMIM:609165
Alopecia-Intellectual Disability Syndrome
Macrotia, Growth delay, Sparse scalp hair, Hearing impairment, Alopecia, Aplasia/Hypoplasia of th... ORPHA:2850
Ichthyosis, Congenital, Autosomal Recessive 1
Sparse hair, Erythroderma, Nail dysplasia, Alopecia, Parakeratosis, Nail dystrophy, Palmoplantar ... OMIM:242300
Lipoid Proteinosis Of Urbach And Wiethe
Patchy alopecia OMIM:247100
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Large for gestational age, Microcornea, Corneal opacity ORPHA:2432
Incontinentia Pigmenti
Abnormality of skin pigmentation, Skin rash, Irregular hyperpigmentation, Ridged fingernail, Corn... ORPHA:464
Eiken Syndrome
Short toe, Short phalanx of finger, Metaphyseal irregularity, Short foot, Fibular hypoplasia, Abs... ORPHA:79106
Cataract 47
Cataract, Microcornea OMIM:612018
Alopecia-Mental Retardation Syndrome With Convulsions And Hypergonadotropic Hypogonadism
Decreased testicular size, Woolly hair, Woolly scalp hair, Alopecia OMIM:601217
Spinocerebellar Ataxia, Autosomal Recessive 24
Cataract OMIM:617133
Cataract 10, Multiple Types
Developmental cataract, Zonular cataract, Posterior Y-sutural cataract OMIM:600881
Immunodeficiency 51
Folliculitis, Pustule, Cutaneous abscess, Chronic oral candidiasis, Recurrent otitis media, Recur... OMIM:613953
Trichohepatoenteric Syndrome 2
Sparse hair, Uncombable hair, Colitis, Decreased serum iron, Hepatitis, Small for gestational age... OMIM:614602
Dystonia 11, Myoclonic
Tremor, Myoclonus, Torticollis OMIM:159900
Spondyloperipheral Dysplasia-Short Ulna Syndrome
Hip dysplasia, Type E brachydactyly, Delayed pubic bone ossification, Abnormal hip joint morpholo... ORPHA:1856
Anterior Segment Dysgenesis 8
Persistent pupillary membrane, Uveal ectropion, Ectopia lentis, Microphakia, Hypoplasia of the ir... OMIM:617319
Multiple Epiphyseal Dysplasia With Robin Phenotype
Genu valgum, Dislocated radial head, Short femur, Talipes equinovarus, Rhizomelia, Irregular epip... OMIM:601560
Kid Syndrome
Hypohidrosis, Cryptorchidism, Recurrent bacterial skin infections, Erythema, Sensorineural hearin... ORPHA:477
Iris Pigment Layer, Cleavage Of
Cataract OMIM:147610
Hurler-Scheie Syndrome
Abnormal pyramidal sign, Corneal opacity, Sensorineural hearing impairment, Rhinitis, Short statu... ORPHA:93476
Spinocerebellar Ataxia 23
Tremor, Gait ataxia, Limb ataxia, Babinski sign, Dysmetria OMIM:610245
Inflammatory Skin And Bowel Disease, Neonatal, 1
Pustule, Otitis externa, Perioral erythema, Erythroderma, Paronychia, Failure to thrive, Perianal... OMIM:614328
Progressive Supranuclear Palsy-Corticobasal Syndrome
Limb apraxia, Tremor, Apraxia, Parkinsonism with favorable response to dopaminergic medication, A... ORPHA:240103
Osteofibrous Dysplasia, Susceptibility To
Fibular hypoplasia, Pseudoarthrosis OMIM:607278
Piebald Trait-Neurologic Defects Syndrome
Hypopigmentation of hair, Abnormal eyebrow morphology, Irregular hyperpigmentation, Heterochromia... ORPHA:2885
Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness
Genu valgum, Short phalanx of finger, Cataract, Epiphyseal dysplasia, Brachydactyly, Coxa valga OMIM:132450
Coenzyme Q10 Deficiency, Primary, 4
Tremor, Abnormal pyramidal sign, Ataxia, Pes cavus, Myoclonus OMIM:612016
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia
Spastic paraplegia, Gait disturbance, Foot osteomyelitis, Acral ulceration, Babinski sign, Impair... ORPHA:139578
Neurodegeneration With Brain Iron Accumulation 8
Dysmetria, Tremor, Ataxia OMIM:617917
Corneal Dystrophy, Endothelial, X-Linked
Band keratopathy, Corneal opacity, Corneal dystrophy OMIM:300779
Omenn Syndrome
Pruritus, Aplasia/Hypoplasia of the eyebrow, Thyroiditis, Hypothyroidism, Erythroderma, Pneumonia... ORPHA:39041
Spinocerebellar Ataxia Type 37
Dysdiadochokinesis, Tremor, Cogwheel rigidity, Limb dysmetria, Truncal ataxia, Myoclonus ORPHA:363710
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 2
Dysdiadochokinesis, Tremor, Truncal ataxia, Small hand, Dysmetria, Short foot, Short palm OMIM:610185
Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive
Pruritus, Atopic dermatitis, Bronchiectasis, Recurrent otitis media, Chronic mucocutaneous candid... OMIM:618282
Phenylketonuria
Maternal hyperphenylalaninemia, Hyperphenylalaninemia, Fair hair, Cataract, Hyperactivity, Eczema... OMIM:261600
Leber Congenital Amaurosis 1
Keratoconus, Eye poking, Pigmentary retinopathy, Growth delay, Hyperthreoninemia, Cataract, Senso... OMIM:204000
Renpenning Syndrome
Macrotia, Growth delay, Thin eyebrow, Iris coloboma, Severe short stature, Abnormal hair laborato... ORPHA:3242
Alg2-Cdg
Cataract, Iris coloboma ORPHA:79326
Multiple Carboxylase Deficiency
Skin rash, Lethargy, Spastic paraparesis, Ataxia, Hearing impairment, Alopecia, Hyperammonemia ORPHA:148
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3
Tremor, Gait ataxia, Ataxia, Pes cavus, Dysmetria, Hammertoe OMIM:618387
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Postural tremor, Tremor, Parkinsonism with favorable response to dopaminergic medication, Bradyki... ORPHA:314632
Upper Limb Defect-Eye And Ear Abnormalities Syndrome
Cataract, Short thumb, Short metacarpal ORPHA:2489
Corneal Dystrophy, Posterior Polymorphous, 2
Corneal opacity, Corneal dystrophy OMIM:609140
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Stereotypy, Attention deficit hyperactivity disorder, Ataxia OMIM:618709
Fraxe Intellectual Disability
Clumsiness, Intrauterine growth retardation, Prominent ear helix, Recurrent hand flapping, Hypera... ORPHA:100973
Palmoplantar Keratoderma And Congenital Alopecia 1
Sparse eyebrow, Sparse hair, Palmoplantar keratoderma, Leukonychia, Epidermal hyperkeratosis, Pal... OMIM:104100
Albinism, Oculocutaneous, Type Iii
Albinism, Partial albinism, Red hair OMIM:203290
Microcephalic Osteodysplastic Dysplasia, Saul-Wilson Type
Cone-shaped epiphyses of the phalanges of the hand, Hypoplasia of the odontoid process, Cataract,... ORPHA:85172
Keratoderma Hereditarium Mutilans
Abnormality of the nail, Honeycomb palmoplantar hyperkeratosis, Hyperkeratosis, Hearing impairmen... ORPHA:494
Orofaciodigital Syndrome Iv
Hand polydactyly, Toe syndactyly, Short finger, Postaxial polydactyly, Clinodactyly, Foot polydac... OMIM:258860
Ophthalmomandibulomelic Dysplasia
Radial bowing, Lateral humeral condyle aplasia, Mesomelia, Fibular hypoplasia, Megalocornea, Opac... OMIM:164900
Trichodysplasia-Xeroderma
Trichodysplasia, Sparse hair, Dry hair, Coarse hair, Sparse axillary hair, Slow-growing hair, Spa... OMIM:190360
Severe Neurodevelopmental Disorder With Feeding Difficulties-Stereotypic Hand Movement-Bilateral Cataract
Stereotypical hand wringing, Juvenile cataract, Failure to thrive, Spasticity ORPHA:500545
Lopes-Maciel-Rodan Syndrome
Tremor, Hypertonia, Abnormal pyramidal sign, Ankle clonus, Bradykinesia, Small hand, Short foot, ... OMIM:617435
Adrenoleukodystrophy
Spastic paraplegia, Incoordination, Truncal ataxia, Impaired vibration sensation at ankles, Limb ... OMIM:300100
Autosomal Recessive Spastic Paraplegia Type 69
Cataract, Lower limb spasticity, Hearing impairment, Hand tremor, Progressive spastic paraplegia,... ORPHA:401830
Multiple Epiphyseal Dysplasia, Beighton Type
Hip dysplasia, Genu valgum, Abnormalities of the metaphyses of the hand, Abnormal hip joint morph... ORPHA:166011
Cataract 41
Developmental cataract, Nuclear cataract OMIM:116400
Hypermanganesemia With Dystonia 2
Tremor, Bradykinesia, Ankle clonus, Parkinsonism, Babinski sign, Spasticity OMIM:617013
Encephalopathy, Progressive, With Or Without Lipodystrophy
Tremor, Abnormal pyramidal sign, Tetraparesis, Ataxia, Myoclonus, Spasticity OMIM:615924
Fibular Dimelia-Diplopodia Syndrome
Absent tibia ORPHA:1757
Mental Retardation, Autosomal Recessive 58
Choreoathetosis, Spastic diplegia, Short stature, Stereotypy OMIM:617270
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities
Attention deficit hyperactivity disorder, Stereotypy OMIM:617787
Pontocerebellar Hypoplasia, Type 11
Inability to walk, Macrotia, Difficulty walking, Limb ataxia, Poor coordination, Ataxia, Decrease... OMIM:617695
Rhizomelic Chondrodysplasia Punctata
Rhizomelia, Growth delay, Cataract, Alopecia, Short stature, Sparse body hair, Dry skin ORPHA:177
Urocanase Deficiency
Tremor, Ataxia, Fair hair, Short stature, Blue irides OMIM:276880
Pili Torti
Abnormal eyebrow morphology, Abnormality of the nail, Hearing impairment, Brittle hair, Alopecia,... ORPHA:2889
Spinocerebellar Ataxia, Autosomal Recessive 21
Tremor, Gait ataxia, Ataxia, Talipes equinovarus, Frequent falls, Spasticity OMIM:616719
Cataract, Microcephaly, Failure To Thrive, Kyphoscoliosis Syndrome
Cataract, Hip dislocation OMIM:212540
Smith-Magenis syndrome
Short stature, Stereotypy, Hyperactivity DECIPHER:8
Lichen Planopilaris
Pruritus, Onycholysis, Hyperkeratosis, Hepatitis, Pterygium, Alopecia, Hypopigmented skin patches... ORPHA:525
Juvenile Sialidosis Type 2
Loss of ability to walk, Corneal opacity, Ataxia, Generalized hypertrichosis, Cataract, Lower lim... ORPHA:93399
Weismann-Netter Syndrome
Squared iliac bones, Abnormality of tibia morphology, Bowing of the long bones, Aplasia/Hypoplasi... ORPHA:3344
Baker-Gordon Syndrome
Inability to walk, Dystonia, Hyperkinetic movements, Ataxia, Stereotypy, Involuntary movements, C... OMIM:618218
Netherton Syndrome
Brittle scalp hair, Allergic rhinitis, Erythroderma, Sparse scalp hair, Sparse and thin eyebrow, ... OMIM:256500
Short Syndrome
Sparse hair, Posterior embryotoxon, Corneal opacity, Weight loss, Severe short stature, Hypoplasi... ORPHA:3163
Microcephaly, Growth Retardation, Cataract, Hearing Loss, And Unusual Appearance
Cryptorchidism, Decreased body weight, Postnatal growth retardation, Cataract, Hearing impairment... OMIM:612947
Intellectual Developmental Disorder, X-Linked 72
Stereotypy, Hyperactivity OMIM:300271
Intellectual Developmental Disorder With Autism And Speech Delay
Inability to walk, Stereotypy OMIM:606053
Trichothiodystrophy
Cryptorchidism, Hypertonia, Ridged nail, Eczema, Numerous pigmented freckles, Fragile nails, Para... ORPHA:33364
Ectodermal Dysplasia 4, Hair/Nail Type
Onycholysis, Absent eyelashes, Congenital onychodystrophy, Absent eyebrow, Brittle hair, Alopecia... OMIM:602032
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Chronic oral candidiasis, Thyroiditis, Hypothyroidism, Erythroderma, Scaling skin, Failure to thr... OMIM:606367
Epilepsy, Familial Adult Myoclonic, 5
Tremor OMIM:615400
Foxg1 Syndrome
Inability to walk, Dystonia, Difficulty walking, Hyperkinetic movements, Decreased body weight, M... ORPHA:561854
Monilethrix
Abnormal eyebrow morphology, Abnormality of the nail, Sparse hair, Abnormal eyelash morphology, S... ORPHA:573
Woolly Hair
Hypopigmentation of hair, Slow-growing hair, Cataract, Sparse lateral eyebrow, Brittle hair, Abno... ORPHA:170
Ameloonychohypohidrotic Syndrome
Hypohidrosis, Seborrheic dermatitis, Onycholysis, Abnormal hair morphology, Dry skin OMIM:104570
Crandall Syndrome
Abnormal testis morphology, Sensorineural hearing impairment, Brittle hair, Alopecia, Aplasia/Hyp... ORPHA:202
Exfoliation Syndrome
Anisocoria, Pigment deposition in the trabecular meshwork, Cataract, Pseudoexfoliation, Abnormali... OMIM:177650
Biotinidase Deficiency
Skin rash, Seborrheic dermatitis, Lethargy, Ataxia, Conjunctivitis, Sensorineural hearing impairm... OMIM:253260
Parkinson Disease 7, Autosomal Recessive Early-Onset
Postural tremor, Parkinsonism with favorable response to dopaminergic medication, Blepharospasm, ... OMIM:606324
Johnson Neuroectodermal Syndrome
Hypohidrosis, Sparse hair, Absent eyelashes, Conductive hearing impairment, Atresia of the extern... ORPHA:2316
Monomelic Amyotrophy
Fasciculations, Tremor ORPHA:65684
Congenital Varicella Syndrome
Cataract, Micromelia ORPHA:291
Developmental And Epileptic Encephalopathy 58
Inability to walk, Spastic diplegia, Stereotypy OMIM:617830
Ectodermal Dysplasia-Syndactyly Syndrome 1
Hypoplastic toenails, Small nail, Coarse hair, Absent facial hair, Palmar hyperkeratosis, Sparse ... OMIM:613573
Griscelli Syndrome, Type 1
Silver-gray hair, Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Accum... OMIM:214450
X-Linked Parkinsonism-Spasticity Syndrome
Cogwheel rigidity, Spastic paraparesis, Resting tremor, Ankle clonus, Bradykinesia, Babinski sign... ORPHA:363654
Hyperprolinemia, Type I
Stereotypy, Hyperactivity, Ataxia, Hyperprolinemia OMIM:239500
Spinocerebellar Ataxia 12
Dysdiadochokinesis, Head tremor, Action tremor, Progressive cerebellar ataxia, Parkinsonism, Dysm... OMIM:604326
Mucolipidosis Type Iii
Short stature, Hearing abnormality, Corneal opacity, Acne ORPHA:577
Acromesomelic Dysplasia, Demirhan Type
Aplasia of the proximal phalanges of the hand, Tarsal synostosis, Short phalanx of finger, Short ... OMIM:609441
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Hypocalcemia, Paresthesia, Nail dysplasia, Xerostomia, Cataract, Hypokalemia, Hyperpigmentation o... OMIM:175500
Bilateral Striopallidodentate Calcinosis
Intrauterine growth retardation, Corneal opacity ORPHA:1980
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Intrauterine growth retardation, Low-set, posteriorly rotated ears, Corneal opacity, Short stature ORPHA:2370
Mietens Syndrome
Hip dysplasia, Hypoplasia of the radius, Talipes, Corneal opacity, Hypoplasia of the ulna, Catara... ORPHA:2557
Acrodermatitis Enteropathica
Pustule, Abnormal eyebrow morphology, Abnormality of the nail, Corneal erosion, Ridged nail, Ridg... ORPHA:37
Cataract 14, Multiple Types
Zonular cataract OMIM:601885
Alopecia-Contractures-Dwarfism Mental Retardation Syndrome
Severe short stature, Large fleshy ears, Severe postnatal growth retardation, Alopecia OMIM:203550
Cataract 3, Multiple Types
Sutural cataract, Developmental cataract, Cerulean cataract, Nuclear pulverulent cataract OMIM:601547
Griscelli Syndrome, Type 2
Melanin pigment aggregation in hair shafts, Silver-gray hair, Accumulation of melanosomes in mela... OMIM:607624
Aniridia 2
Cataract, Aniridia OMIM:617141
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Tremor, Bradykinesia, Ankle clonus, Parkinsonism, Babinski sign, Scissor gait, Spasticity ORPHA:521406
Ulna And Fibula, Hypoplasia Of
Fibular hypoplasia, Hypoplasia of the ulna OMIM:191400
Microcephaly-Micromelia Syndrome
Oligodactyly, Humeroradial synostosis, Forearm undergrowth, Absent radius, Talipes equinovarus, S... OMIM:251230
Parkinson Disease 14, Autosomal Recessive
Tremor, Apraxia, Clumsiness, Bradykinesia, Parkinsonism, Rigidity, Spasticity OMIM:612953
Gomez-Lopez-Hernandez Syndrome
Hypertonia, Ataxia, Posteriorly rotated ears, Low-set ears, Opacification of the corneal stroma, ... OMIM:601853
Mental Retardation, Autosomal Dominant 7
Thickened helices, Incoordination, Macrotia, Gait disturbance, Abnormality of the pinna, Ataxia, ... OMIM:614104
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type
Apraxia, Bradykinesia, Action tremor, Parkinsonism, Babinski sign OMIM:300423
Congenital Rubella Syndrome
Skin rash, Abnormality of retinal pigmentation, Spastic diplegia, Corneal opacity, Aplasia/Hypopl... ORPHA:290
Congenital Disorder Of Glycosylation, Type Ig
Hypoplasia of the radius, Short femur, Rhizomelia, Short humerus, Sandal gap, Short ribs, Talipes... OMIM:607143
Lysinuric Protein Intolerance
Increased circulating ferritin concentration, Hypercholesterolemia, Hyperprolinemia, Hyperglutami... ORPHA:470
Hyperphenylalaninemia, Bh4-Deficient, C
Hypertonia, Tremor, Choreoathetosis, Myoclonus OMIM:261630
Spinocerebellar Ataxia 7
Tremor, Abnormality of extrapyramidal motor function, Chorea, Progressive cerebellar ataxia, Dysm... OMIM:164500
Autoimmune Polyendocrinopathy Type 1
Increased circulating cortisol level, Primary adrenal insufficiency, Hypopigmented skin patches, ... ORPHA:3453
Sialidosis Type 1
Tremor, Hyperkeratosis, Slurred speech, Gait disturbance, Corneal opacity, Ataxia, Cataract, Sens... ORPHA:812
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Tremor, Ataxia OMIM:619099
Waardenburg Syndrome, Type 2B
Sensorineural hearing impairment, White forelock, Premature graying of hair, Heterochromia iridis OMIM:600193
Tyrosinemia Type 2
Tremor, Abnormality of the nail, Palmoplantar keratoderma, Hyperkeratosis, Corneal opacity, Ataxi... ORPHA:28378
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques
Palmoplantar hyperhidrosis, Sparse hair, Palmoplantar keratoderma, Erythema, Sensorineural hearin... ORPHA:659
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly
Talipes equinovarus, Absent tibia, Preaxial foot polydactyly, Mirror image foot polydactyly, Pate... OMIM:119800
Short Rib-Polydactyly Syndrome
Abnormal ilium morphology, Abnormality of long bone morphology, Polydactyly, Abnormal pelvis bone... ORPHA:1505
Cronkhite-Canada Syndrome
Abnormality of skin pigmentation, Hypoplastic toenails, Aplasia/Hypoplasia of the eyebrow, Genera... ORPHA:2930
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Vitiligo, Tympanosclerosis, Decreased circulating aldosterone level, Chronic oral candidiasis, Pr... OMIM:240300
Waardenburg Syndrome, Type 4A
White eyebrow, Spastic paraparesis, Premature graying of hair, Heterochromia iridis, Ataxia, Sens... OMIM:277580
Corticobasal Syndrome
Limb apraxia, Oromotor apraxia, Tremor, Speech apraxia, Bradykinesia, Progressive extrapyramidal ... ORPHA:454887
Leber Congenital Amaurosis 7
Keratoconus, Cataract OMIM:613829
Johnson Neuroectodermal Syndrome
Hypohidrosis, Sparse hair, Absent eyelashes, Conductive hearing impairment, Atresia of the extern... OMIM:147770
Autosomal Recessive Palmoplantar Keratoderma And Congenital Alopecia
Palmoplantar keratoderma, Alopecia totalis, Cataract, Lack of skin elasticity, Nail dystrophy ORPHA:1366
Jaberi-Elahi Syndrome
Inability to walk, Tremor, Gait ataxia, Sparse eyebrow, Dystonia, Sparse eyelashes, Low-set ears,... OMIM:617988
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form
Gastrointestinal inflammation, Abnormal circulating selenium concentration, Decreased plasma tota... ORPHA:79408
Sialidosis Type 2
Tremor, Corneal opacity, Ataxia, Hearing impairment, Short stature ORPHA:87876
Severe Intellectual Disability And Progressive Spastic Paraplegia
Dystonia, Overweight, Difficulty walking, Waddling gait, Babinski sign, Stereotypy, Short stature... ORPHA:280763
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures
Dystonia, Chorea, Paroxysmal dyskinesia, Poor coordination, Ataxia, Falls, Stereotypy OMIM:619150
Omenn Syndrome
Hypoproteinemia, Erythroderma, Pneumonia, Hypoplasia of the thymus, Alopecia, Failure to thrive OMIM:603554
Baralle-Macken Syndrome
Inability to walk, Dystonia, Hirsutism, Spasticity, Cataract, Cafe-au-lait spot, Striae distensae... OMIM:619255
Congenital Sialidosis Type 2
Developmental cataract, Corneal opacity, Ataxia, Generalized hypertrichosis, Cataract, Hearing im... ORPHA:93400
Atypical Pantothenate Kinase-Associated Neurodegeneration
Tremor, Clumsiness, Chorea, Abnormal pyramidal sign, Parkinsonism, Upper motor neuron dysfunction... ORPHA:216873
Laurin-Sandrow Syndrome
Preaxial hand polydactyly, Tarsal synostosis, Absent tibia, Limb duplication, Toe syndactyly, Tal... ORPHA:2378
Chilblain Lupus
Skin rash, Hyperkeratosis, Pruritis on hand, Discoid lupus rash, Malar rash, Skin ulcer, Inflamma... ORPHA:90280
Obesity Due To Prohormone Convertase I Deficiency
Gonadotropin deficiency, Red hair, Growth delay, Decreased response to growth hormone stimuation ... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Gonadotropin deficiency, Red hair, Growth delay, Decreased response to growth hormone stimuation ... ORPHA:71526
Dermoids Of Cornea
Corneal opacity OMIM:304730
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Hypothyroidism, Erythroderma, Glomerulonephritis, Hepatitis, Failure to thrive, Alopecia, Eczema,... OMIM:304790
Peroxisomal Fatty Acyl-Coa Reductase 1 Disorder
Highly arched eyebrow, Macrotia, Growth delay, Spastic tetraparesis, Cataract, Spasticity OMIM:616154
Cataract 8, Multiple Types
Developmental cataract, Nuclear cataract OMIM:115665
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia
Hypoplastic toenails, Ectopia lentis, Fingernail dysplasia, Sparse scalp hair, Hearing impairment... ORPHA:2325
Atelosteogenesis Type Iii
Vertebral hypoplasia, Talipes equinovarus, Fibular aplasia, Absent humerus, Club-shaped distal fe... ORPHA:56305
Roussy-Levy Hereditary Areflexic Dystasia
Gait ataxia, Action tremor, Pes cavus, Upper limb postural tremor, Hammertoe OMIM:180800
Monilethrix
Sparse hair, Nail dysplasia, Brittle hair, Alopecia, Abnormality of hair texture, Nail dystrophy,... OMIM:158000
Immunodeficiency, Common Variable, 12, With Autoimmunity
Bronchiectasis, Recurrent sinusitis, Chronic atrophic gastritis, Pyoderma gangrenosum, Alopecia, ... OMIM:616576
Fucosidosis
Abnormality of the nail, Generalized hyperkeratosis, Hypothyroidism, Abnormal pyramidal sign, Cor... ORPHA:349
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type
Abnormality of tibia morphology, Synostosis of carpal bones, Hypoplasia of the ulna, Fibular hypo... ORPHA:2634
Dermatitis, Atopic
Pruritus, Keratoconus, Allergic rhinitis, Atopic dermatitis, Facial erythema, Conjunctivitis, Cat... OMIM:603165
Christianson Syndrome
Dystonia, Gait ataxia, Truncal ataxia, Macrotia, Thick eyebrow, Cachexia, Stereotypy ORPHA:85278
Winchester Syndrome
Corneal opacity OMIM:277950
Prolidase Deficiency
Low anterior hairline, Pruritus, Abnormality of retinal pigmentation, Palmoplantar keratoderma, H... ORPHA:742
Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome
Generalized hyperkeratosis, Sparse eyebrow, Absent pubic hair, Absent axillary hair, Cutis laxa, ... ORPHA:2269
4Q21 Microdeletion Syndrome
Tremor, Growth delay, Long eyelashes, Synophrys, Intrauterine growth retardation, Low-set ears, H... ORPHA:238750
Chanarin-Dorfman Syndrome
Ataxia, Sensorineural hearing impairment, Subcapsular cataract, Alopecia, Microtia OMIM:275630
Parkinsonism-Dystonia, Infantile, 1
Tremor, Chorea, Hypertonia, Abnormal pyramidal sign, Hyperkinetic movements, Bradykinesia, Parkin... OMIM:613135
Insensitivity To Pain, Congenital, With Anhidrosis
Pain insensitivity, Sparse scalp hair, Corneal scarring, Nail dysplasia, Keratitis, Opacification... OMIM:256800
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Cataract OMIM:618660
Hemochromatosis Type 2
Increased circulating ferritin concentration, Lethargy, Abnormality of iron homeostasis, Elevated... ORPHA:79230
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Hypopigmentation of hair, Albinism, Short stature, Pallor, Hypopigmentation of the skin ORPHA:2786
Mucous Membrane Pemphigoid
Corneal opacity ORPHA:46486
Pachyonychia Congenita
Onychogryposis of fingernail, Palmoplantar hyperhidrosis, Palmoplantar keratoderma, Angular cheil... ORPHA:2309
Spastic Paraplegia 5A, Autosomal Recessive
Spastic paraplegia, Limb dysmetria, Cataract, Spastic gait, Sensorineural hearing impairment, Low... OMIM:270800
Dermatoosteolysis, Kirghizian Type
Nail dysplasia, Keratitis, Skin ulcer, Nail dystrophy OMIM:221810
Ataxia-Telangiectasia
Tremor, Hypopigmentation of hair, Premature graying of hair, Abnormal testis morphology, Gait dis... ORPHA:100
Cataract 22, Multiple Types
Developmental cataract, Nuclear cataract OMIM:609741
Erosive Pustular Dermatosis Of The Scalp
Pustule, Scarring alopecia of scalp, Abnormal hair morphology, Erythema ORPHA:222
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy
Nail pits, Ridged nail, Alopecia, Nail dystrophy OMIM:601705
Alopecia-Mental Retardation Syndrome 4
Erythroderma, Bilateral cryptorchidism, Alopecia OMIM:618840
Pachydermoperiostosis
Seborrheic dermatitis, Osteomyelitis, Elevated circulating growth hormone concentration, Abnormal... ORPHA:2796
Yemenite Deaf-Blind Hypopigmentation Syndrome
Patchy hypo- and hyperpigmentation, Iris coloboma, Severe sensorineural hearing impairment, Micro... OMIM:601706
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Iris hypopigmentation, Hypopigmentation of hair, Ataxia, Hyperactivity, Hypopigmentation of the s... ORPHA:411515
Nathalie Syndrome
Cataract OMIM:255990
Radio-Tartaglia Syndrome
Hirsutism, Striae distensae, Obesity, Low anterior hairline, Ataxia, Synophrys, Low-set ears, Thi... OMIM:619312
Smith-Magenis Syndrome
Hypercholesterolemia, Morphological abnormality of the middle ear, Synophrys, Abnormality of the ... OMIM:182290