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
abnormal skin morphology Slc30a4em1(IMPC)Tcp HOM Early adult 0.00
small adrenal glands Slc30a4em1(IMPC)Tcp HOM Late adult 0.00
small thymus Slc30a4em1(IMPC)Tcp HOM Late adult 0.00
tremors Slc30a4em1(IMPC)Tcp HOM   Late adult 7.59×10-06
cataract Slc30a4em1(IMPC)Tcp HOM Early adult 3.45×10-05
decreased grip strength Slc30a4em1(IMPC)Tcp HOM Early adult 1.57×10-05
abnormal ovary morphology Slc30a4em1(IMPC)Tcp HOM Late adult 0.00
short tibia Slc30a4em1(IMPC)Tcp HOM Late adult 6.21×10-07
enlarged kidney Slc30a4em1(IMPC)Tcp HOM Early adult 0.00
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

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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 Ophthalmoscopy

147 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

Eye Morphology

Images Ophthalmoscopy

92 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

Gross Pathology and Tissue Collection

Images

9 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

Histopathology

Images

11 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

Eye Morphology

Images Slit Lamp

9 Images

Eye Morphology

Images Slit Lamp

123 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

Gross Pathology and Tissue Collection

Images

8 Images

X-ray

XRay Images Whole Body Dorso Ventral

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
Toe syndactyly, 6 metacarpals, Foot polydactyly, Triphalangeal thumb, Hand polydactyly, 1-5 finge... ORPHA:93405
Cataract 20, Multiple Types
Cataract, Membranous cataract OMIM:116100
Optic Atrophy 2
Absent Achilles reflex, Babinski sign, Tremor, Dysdiadochokinesis OMIM:311050
Erythrokeratodermia Variabilis
Generalized hirsutism, Abnormality of the nail, Dry skin, Abnormal testis morphology, Abnormal ha... ORPHA:317
Acromesomelic Dysplasia 2C
Acromesomelia, Hypoplasia of the ulna, Shortening of all middle phalanges of the fingers, Fibular... OMIM:201250
Acromesomelic Dysplasia 2A
Acromesomelia, Pes valgus, Valgus hand deformity, Hypoplasia of the ulna, Fibular hypoplasia, Sho... OMIM:200700
Congenital Non-Bullous Ichthyosiform Erythroderma
Abnormality of the nail, Pruritus, Hypohidrosis, Palmoplantar keratoderma, Erythroderma, Failure ... ORPHA:79394
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Short 4th metacarpal, Epiphyseal stippling, Micromelia, Limb undergrowth, Short tibia, Short long... OMIM:118651
Acrocapitofemoral Dysplasia
Small finger, Genu varum, Delayed ossification of carpal bones, Cone-shaped metacarpal epiphyses,... OMIM:607778
Osebold-Remondini Syndrome
Broad toe, Carpal synostosis, Hypoplasia of the ulna, Bipartite calcaneus, Fibular hypoplasia, Ty... OMIM:112910
Episodic Ataxia, Type 1
Incoordination, Spastic gait, Babinski sign, Episodic ataxia, Slurred speech, Tremor OMIM:160120
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Decreased serum zinc, Perianal erythema, Decreased testicular size, Ataxia, Perioral erythema, Fa... OMIM:201100
Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis
Pes cavus, Palmoplantar hyperkeratosis, Spastic paraplegia, Tremor OMIM:309560
Acromesomelic Dysplasia, Grebe Type
Brachydactyly, Bowing of the long bones, Synostosis of carpal bones, Fibular hypoplasia, Aplasia/... ORPHA:2098
Primary Orthostatic Tremor
Abnormality of extrapyramidal motor function, Tremor ORPHA:238606
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome
Hand oligodactyly, Tibial bowing, Foot oligodactyly, Fibular aplasia, Short tibia, Syndactyly OMIM:246570
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 3
Ataxia, Slurred speech, Tremor 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
Parkinson Disease 24, Autosomal Dominant, Susceptibility To
Rigidity, Parkinsonism with favorable response to dopaminergic medication, Resting tremor OMIM:619491
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development
Absent thumb, Hypoplasia of the ulna, Fibular hypoplasia, Cryptorchidism, Micropenis, Short tibia... OMIM:612447
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly
Absent tibia, Triphalangeal thumb, Preaxial polydactyly, Short tibia, Fibular duplication OMIM:188740
Fibular Hemimelia
Fibular hypoplasia, Limited knee flexion/extension, Renal dysplasia, Short tibia, Short toe, Incr... ORPHA:93323
Cataract-Nephropathy-Encephalopathy Syndrome
Cataract, Renal tubular dysfunction ORPHA:1380
Langer Mesomelic Dysplasia
Rudimentary fibula, Hypoplasia of the ulna, Short femoral neck, Hypoplasia of the radius, Microgn... OMIM:249700
Hypertrophic Neuropathy And Cataract
Cataract OMIM:239900
Acheiropody
Aplasia of the phalanges of the hand, Absent radius, Peromelia, Aplasia of the tarsal bones, Abse... OMIM:200500
Graham Little-Piccardi-Lassueur Syndrome
Pruritus, Perifollicular hyperkeratosis, Alopecia, Sparse pubic hair, Sparse axillary hair, Spars... ORPHA:505
Endove Syndrome, Limb-Only Type
Aplasia of the distal phalanges of the toes, Disproportionate shortening of the tibia, 3-4 finger... OMIM:619217
Congenital Megacalycosis
Enlarged kidney, Renal cyst, Nephrolithiasis, Hematuria, Hydronephrosis, Tubulointerstitial nephr... ORPHA:93109
Primary Dystonia, Dyt27 Type
Action tremor, Focal dystonia, Axial dystonia, Limb dystonia, Laryngeal dystonia, Upper limb post... ORPHA:464440
Primary Dystonia, Dyt13 Type
Torsion dystonia, Action tremor, Dystonia, Focal dystonia, Motor stereotypy, Generalized dystonia... ORPHA:98807
Leri-Weill Dyschondrosteosis
Dorsal subluxation of ulna, Hypoplasia of the ulna, Coxa valga, Abnormal femoral neck morphology,... OMIM:127300
Cataract And Congenital Ichthyosis
Cataract OMIM:212400
Hidrotic Ectodermal Dysplasia
Cobblestone-like hyperkeratosis, Absent pubic hair, Anonychia, Fine hair, Absent axillary hair, H... ORPHA:189
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness
Cataract, Short thumb OMIM:274205
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type
Hypoplasia of the radius, Pseudoarthrosis, Short tibia OMIM:156230
Leukoencephalopathy, Progressive, With Ovarian Failure
Dystonia, Apraxia, Ataxia, Spasticity, Premature ovarian insufficiency, Tremor OMIM:615889
Lethal Faciocardiomelic Dysplasia
Hypoplasia of the ulna, Fibular hypoplasia, Radial club hand, Sandal gap, Short 5th finger, Hypop... ORPHA:1972
Zinc Deficiency, Transient Neonatal
Eczema, Decreased serum zinc, Alopecia OMIM:608118
Tremor, Hereditary Essential, 6
Kinetic tremor, Head tremor, Vocal tremor, Postural tremor OMIM:618866
Gómez-López-Hernández Syndrome
Low-set ears, Impaired pain sensation, Corneal opacity, Ataxia, Toenail dysplasia, Short stature,... ORPHA:1532
Tremor, Hereditary Essential, 5
Kinetic tremor, Postural tremor, Tongue tremor, Intention tremor OMIM:616736
Spinocerebellar Ataxia Type 15/16
Action tremor, Head tremor, Ataxia, Gait ataxia, Tremor by anatomical site, Upper limb postural t... ORPHA:98769
Episodic Ataxia With Slurred Speech
Gait ataxia, Slurred speech, Tremor ORPHA:401953
Odonto-Onycho Dysplasia-Alopecia Syndrome
Palmoplantar keratoderma, Hypoplastic toenails, Sparse eyebrow, Sparse body hair, Alopecia, Spars... ORPHA:2722
Cerebellar Ataxia And Ectodermal Dysplasia
Sparse hair, Ataxia, Alopecia OMIM:212835
Gollop-Wolfgang Complex
Bifid femur, Ectrodactyly, Aplasia/Hypoplasia of the tibia, Aplasia/Hypoplasia of the ulna, Hand ... ORPHA:1986
Aniridia 3
Cataract OMIM:617142
Léri-Weill Dyschondrosteosis
Abnormal hip bone morphology, Genu varum, Abnormality of the ulna, Clinodactyly of the 5th finger... ORPHA:240
Dyschondrosteosis And Nephritis
Short forearm, Ulnar bowing, Nephritis, Short tibia, Radial bowing OMIM:127350
Intellectual Developmental Disorder With Poor Growth And With Or Without Seizures Or Ataxia
Fair hair, Incoordination, Developmental cataract, Gait ataxia, Increased LDL cholesterol concent... OMIM:618808
Disordered Steroidogenesis Due To Cytochrome P450 Oxidoreductase Deficiency
Ambiguous genitalia, Congenital adrenal hyperplasia, Increased circulating ACTH level OMIM:613571
Immunodeficiency, Common Variable, 6
Enlarged kidney, Mesangial Immune complex deposition, Hydronephrosis, Glomerulonephritis, Macrosc... OMIM:613496
Spastic Paraparesis And Deafness
Spastic paraparesis, Hypogonadism, Tremor OMIM:312910
Oliver-Mcfarlane Syndrome
Central heterochromia, Long eyebrows, Small for gestational age, Long eyelashes, Cryptorchidism, ... OMIM:275400
Kerion Celsi
Recurrent cutaneous abscess formation, Recurrent skin infections, Inflammatory abnormality of the... ORPHA:499
Alpha-N-Acetylgalactosaminidase Deficiency Type 3
Cataract, Hepatomegaly ORPHA:79281
Neuronopathy, Distal Hereditary Motor, Type Viia
Vocal cord paresis, Pes cavus, Vocal cord paralysis, Tremor OMIM:158580
Flynn-Aird Syndrome
Cataract, Ataxia, Progressive sensorineural hearing impairment, Hyperkeratosis, Alopecia, Alopeci... OMIM:136300
Corneal Dystrophy, Groenouw Type I
Punctate corneal dystrophy, Granular corneal dystrophy, Nodular corneal dystrophy, Cataract OMIM:121900
Leukoencephalopathy with metaphyseal chondrodysplasia
Babinski sign, Spastic paraplegia, Metaphyseal chondrodysplasia, Tremor OMIM:300660
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density
Hypoplasia of the ulna, Fibular hypoplasia, Hypoplasia of the radius, Lytic defects of humeral di... OMIM:601376
Spinocerebellar Ataxia 43
Ataxia, Gait ataxia, Pes cavus, Rigidity, Limb ataxia, Tremor OMIM:617018
Mesomelic Dysplasia, Savarirayan Type
Dislocated radial head, Abnormal foot morphology, Fibular aplasia, Talipes equinovalgus, Short ti... OMIM:605274
Hypotrichosis 4
Pili torti, Sparse eyebrow, Sparse body hair, Sparse eyelashes, Alopecia, Sparse hair OMIM:146550
Intellectual Developmental Disorder, Autosomal Recessive 6
Involuntary movements, Dystonia, Myoclonus, Tremor OMIM:611092
Olmsted Syndrome 1
Pruritus, Palmoplantar keratoderma, Parakeratosis, Nail dysplasia, Corneal opacity, Nail dystroph... OMIM:614594
Leukoencephalopathy, Brain Calcifications, And Cysts
Abnormal pyramidal sign, Dystonia, Ataxia, Spasticity, Hemiplegia, Abnormality of extrapyramidal ... OMIM:614561
Spastic Paraparesis-Deafness Syndrome
Sensorineural hearing impairment, Impaired pain sensation, Cataract, Spastic paraparesis, Ataxia,... ORPHA:2815
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis
Erysipelas, Hypohidrosis, Cataract, Nail dysplasia, Growth delay, Elevated circulating creatine k... OMIM:615704
Dystonia 27
Action tremor, Laryngeal dystonia, Postural tremor, Writer's cramp, Oromandibular dystonia OMIM:616411
Spinocerebellar Degeneration-Corneal Dystrophy Syndrome
Corneal dystrophy, Corneal opacity, Ataxia, Progressive cerebellar ataxia, Upper motor neuron dys... ORPHA:3177
Slc39A8-Cdg
Abnormal blood zinc concentration, Dystonia, Low-set ears, Failure to thrive in infancy, Hypomang... ORPHA:468699
Dyskeratosis Congenita, Autosomal Recessive 6
Abnormality of skin pigmentation, Intrauterine growth retardation, Ataxia, Nail dystrophy, Failur... OMIM:616353
Dystonia 3, Torsion, X-Linked
Torsion dystonia, Chorea, Parkinsonism with favorable response to dopaminergic medication, Myoclo... OMIM:314250
Segawa Syndrome, Autosomal Recessive
Parkinsonism, Limb dystonia, Gait ataxia, Rigidity, Abnormality of extrapyramidal motor function,... OMIM:605407
Glutathionuria
Tremor OMIM:231950
Parkinson Disease 15, Autosomal Recessive Early-Onset
Parkinsonism, Dystonia, Bradykinesia, Lower limb spasticity, Rigidity, Scissor gait, Abnormality ... OMIM:260300
Hypotrichosis Simplex
Sparse eyebrow, Sparse body hair, Alopecia, Sparse eyelashes, Sparse scalp hair, Sparse hair ORPHA:55654
Tremor, Hereditary Essential, 1
Postural tremor, Hand tremor, Action tremor OMIM:190300
Perifolliculitis Capitis Abscedens Et Suffodiens, Familial
Alopecia of scalp, Perifolliculitis, Alopecia OMIM:260910
Dyskinesia With Orofacial Involvement, Autosomal Recessive
Hypothyroidism, Frequent falls, Dystonia, Myoclonus, Tremor OMIM:619647
Alopecia Areata 1
Patchy alopecia, Trachyonychia, Nail pits, Alopecia universalis, Alopecia totalis OMIM:104000
Bardet-Biedl Syndrome 18
Brachydactyly, Cataract, Renal insufficiency OMIM:615995
Hydrocephaly-Cerebellar Agenesis Syndrome
Cataract ORPHA:1397
Spinocerebellar Ataxia 20
Abnormal pyramidal sign, Action tremor, Palatal myoclonus, Gait ataxia, Limb ataxia, Postural tremor OMIM:608687
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Decreased serum zinc, Decreased body weight, Recurrent skin infections, Decreased serum iron, Nai... ORPHA:89842
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
Abnormal eyelash morphology, Periodontitis, Sparse body hair, Alopecia universalis, Sparse scalp ... ORPHA:1008
Bathing Suit Ichthyosis
Hypohidrosis, Parakeratosis, Palmoplantar hyperkeratosis, Impaired temperature sensation, Nail dy... ORPHA:100976
Lipoid Congenital Adrenal Hyperplasia
Adrenogenital syndrome, Congenital adrenal hyperplasia, Hypospadias OMIM:201710
Hypotrichosis 5
Absent pubic hair, Thin eyebrow, Sparse eyelashes, Alopecia, Absent axillary hair OMIM:612841
Ectodermal Dysplasia-Blindness Syndrome
Abnormality of skin pigmentation, Hypohidrosis, Corneal dystrophy, Sclerocornea, Microcornea, Cat... ORPHA:1806
Ichthyosis, Hystrix-Like, With Deafness
Punctate keratitis, Palmoplantar keratoderma, Absent eyelashes, Sensorineural hearing impairment,... OMIM:602540
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies
Hypothyroidism, Corneal dystrophy, Low-set ears, Sensorineural hearing impairment, Short stature,... OMIM:617763
Tietz Syndrome
White eyebrow, Hypopigmentation of hair, Abnormality of skin pigmentation, Abnormal anterior cham... ORPHA:42665
Alopecia Areata 2
Patchy alopecia, Alopecia of scalp, Alopecia totalis, Alopecia universalis OMIM:610753
Epidermolysis Bullosa Simplex 6, Generalized, With Scarring And Hair Loss
Diffuse palmoplantar hyperkeratosis, Hypopigmentation of the skin, Dystrophic toenail, Sparse bod... OMIM:617294
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay
Ataxia, Tremor OMIM:213000
Tibial Hemimelia
Cryptorchidism, Radial club hand, Mesomelic leg shortening, Short tibia, Increased laxity of ankl... ORPHA:93322
Spinal Muscular Atrophy, Jokela Type
Hammertoe, Pes planus, Fasciculations, Pes cavus, Calf muscle hypertrophy, Tremor OMIM:615048
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Hypohidrosis, Opacification of the corneal stroma, Absent eyelashes, Cryptorchidism, Follicular h... OMIM:308205
Trichothiodystrophy 1, Photosensitive
Small nail, Brittle hair, Pili torti, Small for gestational age, Microcornea, Cataract, Fine hair... OMIM:601675
Moynahan Syndrome
Sensorineural hearing impairment, Hyperkeratosis, Short stature, Cachexia, Alopecia, Sparse hair ORPHA:2574
Candidiasis, Familial, 1
Chronic mucocutaneous candidiasis, Alopecia OMIM:114580
Pili Torti-Onychodysplasia Syndrome
Abnormal pinna morphology, Brittle hair, Palmoplantar keratoderma, Absent eyelashes, Congenital o... ORPHA:2890
Palmoplantar Keratoderma And Congenital Alopecia 2
Developmental cataract, Palmoplantar hyperkeratosis, Nail dysplasia, Facial erythema, Nail dystro... OMIM:212360
Lamellar Ichthyosis
Abnormality of the nail, Pruritus, Abnormal helix morphology, Aplasia/Hypoplasia of the eyebrow, ... ORPHA:313
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Dystonia, Ataxia, Chorea, Torticollis, Hyperkinetic movements, Tremor OMIM:618425
X-Linked Dominant Chondrodysplasia Punctata
Abnormality of the nail, Patchy alopecia, Coarse hair, Low-set ears, Severe postnatal growth reta... ORPHA:35173
Alopecia, Psychomotor Epilepsy, Pyorrhea, And Mental Subnormality
Periodontitis, Alopecia universalis, Congenital alopecia totalis OMIM:104130
Spinocerebellar Ataxia, Autosomal Recessive 4
Frequent falls, Dystonia, Fasciculations, Ataxia, Gait ataxia, Pes cavus, Spasticity, Babinski si... OMIM:607317
Dystonia, Dopa-Responsive
Incoordination, Dystonia, Resting tremor, Bradykinesia, Cogwheel rigidity, Gait ataxia, Pes cavus... OMIM:128230
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Babinski sign, Spasticity, Ataxia, Tremor OMIM:611105
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Brachydactyly, Enlarged kidney, Hypoplasia of the ulna, Short long bone, Fibular hypoplasia, Shor... OMIM:613091
Laurin-Sandrow Syndrome
Absent radius, Absent tibia, Triphalangeal thumb, Hand polydactyly, Broad foot, Fibular duplicati... OMIM:135750
Hypotrichosis 11
Aplasia/Hypoplasia of the eyebrow, Sparse or absent eyelashes, Alopecia universalis, Absent axill... OMIM:615059
Alopecia Universalis
Absent eyelashes, Alopecia universalis, Patchy alopecia, Absent eyebrow ORPHA:701
Classic Mycosis Fungoides
Abnormality of the nail, Pruritus, Hypopigmented skin patches, Erythema, Eczema, Hyperkeratosis, ... ORPHA:2584
Dysequilibrium Syndrome
Cataract, Ataxia, Cerebral palsy, Short stature, Gait disturbance ORPHA:1766
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive
Sensorineural hearing impairment, Erythroderma, Failure to thrive, Short stature, Fragile nails, ... OMIM:242150
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome
Palmoplantar keratoderma, Hypopigmented skin patches, Severe short stature, Onychogryposis of fin... ORPHA:2251
Flynn-Aird Syndrome
Primary adrenal insufficiency, Impaired pain sensation, Cataract, Ataxia, Progressive sensorineur... ORPHA:2047
Aldh18A1-Related De Barsy Syndrome
Cataract ORPHA:35664
Clouston Syndrome
Small nail, Absent pubic hair, Brittle hair, Blepharitis, Cataract, Nail dysplasia, Sparse eyebro... OMIM:129500
Absence Deformity Of Leg-Cataract Syndrome
Abnormality of epiphysis morphology, Cataract, Abnormality of the lower limb, Abnormality of femu... ORPHA:2310
Thumb Deformity And Alopecia
Short stature, Increased groin pigmentation with raindrop depigmentation, Alopecia OMIM:188150
Spinocerebellar Ataxia, Autosomal Recessive 16
Ankle clonus, Spasticity, Limb ataxia, Truncal ataxia, Babinski sign, Hypogonadism, Tremor OMIM:615768
Orofaciodigital Syndrome Type 10
Hypoplasia of proximal radius, Preaxial polydactyly, Mesomelic leg shortening, Oligodactyly, Micr... ORPHA:2756
L-Ferritin Deficiency
Decreased circulating ferritin concentration, Alopecia OMIM:615604
Nephronophthisis 16
Nephronophthisis, Enlarged kidney, Renal insufficiency, Polycystic kidney dysplasia OMIM:615382
Epidermolysis Bullosa Simplex With Mottled Pigmentation
Mottled pigmentation, Hypomelanotic macule, Nail dysplasia, Mixed hypo- and hyperpigmentation of ... ORPHA:79397
Ectodermal Dysplasia 6, Hair/Nail Type
Sparse hair, Dystrophic toenail, Thin toenail, Alopecia OMIM:614928
Winchester Syndrome
Corneal opacity, Hirsutism OMIM:277950
Dyskinesia, Limb And Orofacial, Infantile-Onset
Hemiballismus, Frequent falls, Chorea, Hyperkinetic movements, Tremor OMIM:616921
Growth Delay-Intellectual Disability-Hepatopathy Syndrome
Dermal translucency, Decreased serum zinc, Intrauterine growth retardation, Sensorineural hearing... ORPHA:541423
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Enlarged kidney, Absent radius, Hydronephrosis, Hand polydactyly, Proximal placement of thumb, Sh... OMIM:314390
Spinocerebellar Ataxia Type 20
Kinetic tremor, Abnormal pyramidal sign, Isometric tremor, Intention tremor, Bradykinesia, Ataxia... ORPHA:101110
Parkinsonism With Spasticity, X-Linked
Parkinsonism, Resting tremor, Bradykinesia, Cogwheel rigidity, Spasticity, Babinski sign OMIM:300911
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss
Abnormal foot morphology, Tremor OMIM:614369
Galactosemia Ii
Cataract, Galactosuria OMIM:230200
Tibial Aplasia-Ectrodactyly Syndrome
Brachydactyly, Popliteal pterygium, Finger syndactyly, Fibular hypoplasia, Split hand, Abnormalit... ORPHA:3329
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Parkinsonism, Dystonia, Ataxia, Upper motor neuron dysfunction, Rigidity, Chorea, Myoclonus, Tremor ORPHA:401901
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia
Hypoplastic toenails, Alopecia, Toenail dysplasia, Fingernail dysplasia, Sparse scalp hair, Abnor... ORPHA:2325
Bullous Dystrophy, Hereditary Macular Type
Severe short stature, Abnormality of the nail, Hyperpigmentation of the skin, Alopecia totalis OMIM:302000
Alpha-Methylacyl-Coa Racemase Deficiency
Hypergonadotropic hypogonadism, Spasticity, Ataxia, Tremor OMIM:614307
Corneal Dystrophy-Perceptive Deafness Syndrome
Sensorineural hearing impairment, Corneal opacity, Corneal dystrophy ORPHA:1490
Nathalie Syndrome
Cataract ORPHA:2663
Rhizomelic Chondrodysplasia Punctata, Type 1
Developmental cataract, Severe short stature, Sensorineural hearing impairment, Rhizomelia, Sever... OMIM:215100
Ichthyosis, Congenital, Autosomal Recessive 11
Brittle hair, Hypohidrosis, Blepharitis, Pili torti, Sparse eyebrow, Corneal opacity, Hyperkerato... OMIM:602400
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Hypopigmentation of hair, Persistent pupillary membrane, Cataract, Corneal opacity, Aplasia/Hypop... ORPHA:1067
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia
Hypohidrosis, Abnormal hair morphology, Abnormal toenail morphology, Fine hair, Alopecia, Abnorma... ORPHA:248
Alopecia Totalis
Alopecia of scalp, Alopecia ORPHA:700
Sézary Syndrome
Pruritus, Palmoplantar keratoderma, Nail dystrophy, Erythroderma, Alopecia, Irregular hyperpigmen... ORPHA:3162
Alopecia-Epilepsy-Oligophrenia Syndrome Of Moynahan
Sparse hair, Alopecia OMIM:203600
X-Linked Agammaglobulinemia
Sinusitis, Recurrent pneumonia, Weight loss, Hypopigmented skin patches, Arthritis, Sensorineural... ORPHA:47
Cataract-Microcornea Syndrome
Corneal dystrophy, Microcornea, Cataract, Corneal opacity, Iris coloboma ORPHA:1377
Alopecia Universalis Congenita
Alopecia universalis, Alopecia OMIM:203655
Trichomegaly
Cataract OMIM:190330
Familial Reactive Perforating Collagenosis
Pruritus, Perifolliculitis, Maculopapular exanthema, Spotty hyperpigmentation, Inflammatory abnor... ORPHA:79147
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome
Adrenal insufficiency, Central adrenal insufficiency, Upper motor neuron dysfunction, Hyperpigmen... OMIM:612079
Blount Disease
Abnormality of the proximal tibial epiphysis, Tibial bowing, Abnormality of the knee, Abnormality... ORPHA:2768
Deafness-Craniofacial Syndrome
Hearing impairment, Alopecia OMIM:125230
Pigmented Nodular Adrenocortical Disease, Primary, 3
Adrenal hyperplasia, Increased circulating cortisol level OMIM:614190
Parc Syndrome
Absent eyelashes, Alopecia, Absent eyebrow OMIM:600331
Spinocerebellar Ataxia Type 31
Gait ataxia, Spasticity, Tremor ORPHA:217012
Alopecia, Congenital
Sparse hair, Alopecia OMIM:300042
Mental Retardation, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome
Micropenis, Cataract OMIM:610156
Intellectual Developmental Disorder, X-Linked, Syndromic, Armfield Type
Cataract, Short foot, Small hand, Abnormal hand morphology OMIM:300261
Spastic Ataxia 9, Autosomal Recessive
Abnormal pyramidal sign, Frequent falls, Dysmetria, Hammertoe, Hoffmann sign, Ataxia, Pes cavus, ... OMIM:618438
Pseudoprogeria Syndrome
Decreased body weight, Absent eyelashes, Sparse eyebrow, Growth delay, Absent eyebrow, Progressiv... ORPHA:2985
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant
Blepharitis, Palmoplantar keratoderma, Scarring alopecia of scalp, Nail dysplasia, Sparse eyebrow... OMIM:612843
Renal Dysplasia
Ureteral atresia, Functional abnormality of the bladder, Hydronephrosis, Multicystic kidney dyspl... ORPHA:93108
Autosomal Dominant Spastic Ataxia Type 1
Leg muscle stiffness, Hypertonia, Spastic gait, Dystonia, Spastic dysarthria, Spastic paraplegia,... ORPHA:251282
Rothmund-Thomson Syndrome, Type 1
Hypothyroidism, Recurrent otitis media, Absent eyelashes, Absent eyebrow, Nail dystrophy, Thin na... OMIM:618625
Orofaciodigital Syndrome Viii
Syndactyly, Short tibia, Polydactyly OMIM:300484
Spinocerebellar Ataxia 37
Frequent falls, Ataxia, Tremor OMIM:615945
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement
Hemiballismus, Frequent falls, Chorea, Tremor ORPHA:494526
Aa Amyloidosis
Enlarged kidney, Nephrotic syndrome, Acute kidney injury, Proteinuria, Abnormality of the kidney,... ORPHA:85445
Classic Phenylketonuria
Hypopigmentation of hair, Hypertonia, Cataract, Hypopigmentation of the skin, Tremor, Growth dela... ORPHA:79254
Neuroectodermal Melanolysosomal Disease
Premature graying of hair, Hypopigmentation of hair, Hypertonia, Hypopigmentation of the skin, At... ORPHA:33445
Galactosialidosis
Corneal opacity, Hearing impairment ORPHA:351
Congenital Disorder Of Glycosylation, Type Ig
Small scrotum, Cryptorchidism, Sandal gap, Short ribs, Rhizomelia, Hypoplasia of the radius, Micr... OMIM:607143
Quinquaud Folliculitis Decalvans
Patchy alopecia, Recurrent skin infections, Abnormal hair morphology, Scarring alopecia of scalp,... ORPHA:346
Tremor, Hereditary Essential, 4
Postural tremor, Action tremor OMIM:614782
Hereditary Bullous Dystrophy, Macular Type
Pneumonia, Atrichia, Cryptorchidism, Cataract, Corneal opacity, Growth delay, Nail dystrophy, Sho... ORPHA:1867
Gonadoblastoma
Abnormality of the ovary, Ovarian gonadoblastoma, Increased serum testosterone level, Gonadal cal... ORPHA:206484
Developmental And Epileptic Encephalopathy 32
Ataxia, Myoclonus, Tremor OMIM:616366
Autism Spectrum Disorder Due To Auts2 Deficiency
Repetitive compulsive behavior, Small for gestational age, Low-set ears, Cryptorchidism, Motor st... ORPHA:352490
Congenital Disorder Of Glycosylation, Type If
Ataxia, Hyperkeratosis, Erythroderma, Failure to thrive, Scaling skin, Dry skin, Hypertonia OMIM:609180
Griscelli Syndrome, Type 3
Large clumps of pigment irregularly distributed along hair shaft, Silver-gray hair, White eyelashes OMIM:609227
Paralysis Agitans, Juvenile, Of Hunt
Parkinsonism, Dystonia, Bradykinesia, Rigidity, Tremor OMIM:168100
Trichodysplasia-Xeroderma Syndrome
Brittle hair, Coarse hair, Pili torti, Sparse eyebrow, Sparse scalp hair, Sparse body hair, Trich... ORPHA:3361
Optic Atrophy 3, Autosomal Dominant
Cataract, Abnormality of extrapyramidal motor function, Hearing impairment, Tremor OMIM:165300
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay
Cataract, Developmental cataract OMIM:613076
Parkinson Disease 13, Autosomal Dominant, Susceptibility To
Rigidity, Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Tremor OMIM:610297
Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome
Hypothyroidism, Hypohidrosis, Dystrophic toenail, Sparse eyebrow, Fine hair, Alopecia, Short stat... ORPHA:1882
Spastic Ataxia 2, Autosomal Recessive
Frequent falls, Dysmetria, Fasciculations, Gait ataxia, Spasticity, Head titubation, Babinski sig... OMIM:611302
Netherton Syndrome
Abnormal hair morphology, Sparse eyebrow, Fine hair, Trichorrhexis nodosa, Eczema, Erythroderma, ... ORPHA:634
Nephronophthisis 2
Nephronophthisis, Enlarged kidney, Renal cortical microcysts, Chronic tubulointerstitial nephriti... OMIM:602088
Cerebral Arteriopathy, Autosomal Recessive, With Subcortical Infarcts And Leukoencephalopathy
Ataxia, Gait disturbance, Rigidity, Spasticity, Babinski sign, Alopecia, Abnormality of extrapyra... OMIM:600142
Hyperzincemia With Functional Zinc Depletion
Increased serum zinc, Skin rash OMIM:601979
Copper Deficiency, Familial Benign
Early balding, Failure to thrive, Seborrheic dermatitis, Abnormal circulating copper concentratio... OMIM:121270
Acrofacial Dysostosis Syndrome Of Rodriguez
Clinodactyly, Fibular hypoplasia, 11 pairs of ribs, Triphalangeal thumb, Oligodactyly, Micrognath... OMIM:201170
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome
Synostosis of carpal bones, Aplasia/Hypoplasia of the thumb, Abnormality of fibula morphology, Ap... ORPHA:988
X-Linked Intellectual Disability, Stocco Dos Santos Type
Short stature, Cataract, Hirsutism, Small for gestational age ORPHA:85288
Chondrodysplasia Punctata 2, X-Linked Dominant
Patchy alopecia, Elevated 8-dehydrocholesterol, Hearing impairment, Rhizomelia, Cataract, Sparse ... OMIM:302960
Short Rib-Polydactyly Syndrome
Abnormal ilium morphology, Abnormal pelvis bone morphology, Metaphyseal spurs, Cone-shaped epiphy... ORPHA:1505
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly
Absent tibia, Foot monodactyly, Bifid femur, Aplasia of the ulna, Split hand, Hand monodactyly OMIM:228250
Severe Combined Immunodeficiency Due To Foxn1 Deficiency
Congenital alopecia totalis, Nail pits, Ridged nail ORPHA:169095
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency
Hypothyroidism, Hand tremor, Impaired proprioception, Head tremor, Oculomotor apraxia, Alopecia, ... ORPHA:412057
Severe Neurodevelopmental Disorder With Feeding Difficulties-Stereotypic Hand Movement-Bilateral Cataract
Stereotypical hand wringing, Failure to thrive, Spasticity, Juvenile cataract ORPHA:500545
Satoyoshi Syndrome
Genu varum, Abnormal hip bone morphology, Abnormality of epiphysis morphology, Abnormality of the... ORPHA:3130
Hyperaldosteronism, Familial, Type I
Adrenal hyperplasia, Adrenogenital syndrome, Decreased circulating renin level, Hyperaldosteronism OMIM:103900
Alopecia-Mental Retardation Syndrome With Convulsions And Hypergonadotropic Hypogonadism
Decreased testicular size, Woolly hair, Woolly scalp hair, Alopecia OMIM:601217
Spondyloepimetaphyseal Dysplasia, Missouri Type
Genu varum, Metaphyseal irregularity, Flattened epiphysis, Knee osteoarthritis, Tibial bowing, Fl... ORPHA:93356
Corneodermatoosseous Syndrome
Corneal dystrophy, Palmoplantar hyperkeratosis, Onycholysis, Erythroderma, Short stature OMIM:122440
Renal-Hepatic-Pancreatic Dysplasia 2
Enlarged kidney, Cystic renal dysplasia, Hepatomegaly, Talipes equinovarus, Femoral bowing OMIM:615415
Stuve-Wiedemann Syndrome 1
Talipes, Micrognathia, Short tibia, Opacification of the corneal stroma, Bowing of the long bones... OMIM:601559
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Palmoplantar keratoderma, Recurrent skin infections, Orthokeratosis, Acantholysis, Growth delay, ... OMIM:615508
Pityriasis Rubra Pilaris
Abnormality of the nail, Pruritus, Palmoplantar keratoderma, Eczema, Erythroderma, Pustule, Irreg... ORPHA:2897
Alopecia-Intellectual Disability-Hypergonadotropic Hypogonadism Syndrome
Alopecia totalis ORPHA:1014
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome
Premature ovarian insufficiency, Pedal edema ORPHA:75325
Ichthyosis With Confetti
Hyperkeratosis, Erythroderma, Palmoplantar hyperkeratosis, Hypertrichosis OMIM:609165
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Kinetic tremor, Tremor OMIM:611808
Autosomal Dominant Epidermolytic Ichthyosis
Palmoplantar keratoderma, Hyperkeratosis, Erythroderma, Skin ulcer, Weight loss, Conjunctival ham... ORPHA:312
Alopecia, Familial Focal
Patchy alopecia OMIM:104110
Holocarboxylase Synthetase Deficiency
Ataxia, Alopecia, Growth delay, Eczema, Keratoconjunctivitis, Perioral eczema, Weight loss, Hyper... ORPHA:79242
Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive
Recurrent otitis media, Pruritus, Recurrent skin infections, Bronchiectasis, Eczema, Atopic derma... OMIM:618282
Alopecia-Intellectual Disability Syndrome 3
Alopecia universalis OMIM:613930
Alopecia-Intellectual Disability Syndrome 2
Alopecia universalis OMIM:610422
Alopecia-Mental Retardation Syndrome 1
Alopecia universalis OMIM:203650
Gabriele-De Vries Syndrome
Cryptorchidism, Long fingers, Dystonia, Tremor OMIM:617557
Foxg1 Syndrome
Decreased body weight, Dystonia, Choreoathetosis, Severe postnatal growth retardation, Motor ster... ORPHA:561854
Alopecia, Androgenetic, 1
Alopecia OMIM:109200
Parkinson Disease 19A, Juvenile-Onset
Abnormal pyramidal sign, Parkinsonism, Dystonia, Bradykinesia, Rigidity, Spasticity, Tremor OMIM:615528
Hyperphenylalaninemia, Bh4-Deficient, D
Tremor, Hypertonia OMIM:264070
Split-Hand/Foot Malformation With Long Bone Deficiency 1
Aplasia of the 3rd finger, Absent tibia, Short hallux, Aplasia/Hypoplasia of the ulna, Split hand... OMIM:119100
Lipoid Proteinosis Of Urbach And Wiethe
Patchy alopecia OMIM:247100
Alopecia-Intellectual Disability Syndrome
Aplasia/Hypoplasia of the eyebrow, Sparse body hair, Alopecia, Growth delay, Short stature, Macro... ORPHA:2850
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Large for gestational age, Microcornea, Corneal opacity ORPHA:2432
Thanatophoric Dysplasia, Glasgow Variant
Micromelia, Cataract, Hepatosplenomegaly OMIM:273680
Epilepsy, Progressive Myoclonic 7
Ataxia, Myoclonus, Tremor OMIM:616187
Trichohepatoenteric Syndrome 2
Brittle hair, Woolly hair, Small for gestational age, Intrauterine growth retardation, Decreased ... OMIM:614602
Hurler-Scheie Syndrome
Generalized hirsutism, Abnormal pyramidal sign, Sensorineural hearing impairment, Corneal opacity... ORPHA:93476
Incontinentia Pigmenti
Abnormality of the nail, Uveitis, Ridged fingernail, Keratitis, Skin ulcer, Abnormal fingernail m... ORPHA:464
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome
Hypothyroidism, Abnormality of the ear, Recurrent otitis media, Repetitive compulsive behavior, R... ORPHA:391372
Atypical Pantothenate Kinase-Associated Neurodegeneration
Abnormal pyramidal sign, Frequent falls, Parkinsonism, Focal dystonia, Oromandibular dystonia, Li... ORPHA:216873
46,Xx Testicular Disorder Of Sex Development
Ambiguous genitalia, Male hypogonadism, Polycystic ovaries, Decreased testicular size ORPHA:393
Inflammatory Skin And Bowel Disease, Neonatal, 1
Blepharitis, Perianal erythema, Perioral erythema, Erythroderma, Failure to thrive, Onychogryposi... OMIM:614328
Omenn Syndrome
Hypothyroidism, Pruritus, Pneumonia, Aplasia/Hypoplasia of the eyebrow, Thyroiditis, Failure to t... ORPHA:39041
Ichthyosis, Congenital, Autosomal Recessive 1
Parakeratosis, Palmoplantar hyperkeratosis, Nail dysplasia, Nail dystrophy, Erythroderma, Alopeci... OMIM:242300
Spinocerebellar Ataxia Type 14
Abnormality of the Achilles tendon, Hyporeflexia of lower limbs, Gait ataxia, Progressive cerebel... ORPHA:98763
Dystonia 11, Myoclonic
Torticollis, Writer's cramp, Myoclonus, Tremor OMIM:159900
Acromesomelic Dysplasia 2B
Brachydactyly, Deformed tarsal bones, Deviation of finger, Fibular hypoplasia, Rhizomelia, Short ... OMIM:228900
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency
Male pseudohermaphroditism, Adrenal hyperplasia, Adrenogenital syndrome, Ambiguous genitalia OMIM:202110
Acromesomelic Dysplasia 3
Brachydactyly, Carpal synostosis, Hypoplasia of the ulna, Widened proximal tibial metaphyses, Apl... OMIM:609441
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Clinodactyly, Aplasia/Hypoplasia of the 5th finger, Hypoplastic iliac wing, Aplasia/Hypoplasia of... OMIM:228930
Developmental And Epileptic Encephalopathy 97
Stereotypical hand wringing, Inability to walk, Tremor OMIM:619561
Corneal Dystrophy, Endothelial, X-Linked
Band keratopathy, Corneal opacity, Corneal dystrophy OMIM:300779
Piebald Trait-Neurologic Defects Syndrome
Hypopigmentation of hair, Heterochromia iridis, Hypopigmented skin patches, Sensorineural hearing... ORPHA:2885
Adult Neuronal Ceroid Lipofuscinosis
Abnormal pyramidal sign, Ataxia, Spasticity, Clumsiness, Abnormality of extrapyramidal motor func... ORPHA:79262
Spinocerebellar Ataxia 18
Dysmetria, Pes cavus, Progressive gait ataxia, Dysdiadochokinesis, Babinski sign, Tremor OMIM:607458
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia
Progressive spastic paraplegia, Impaired pain sensation, Spastic paraplegia, Acral ulceration, Sp... ORPHA:139578
Renpenning Syndrome
Severe short stature, Thin eyebrow, Cataract, Sensorineural hearing impairment, Growth delay, Mac... ORPHA:3242
Albinism, Oculocutaneous, Type Iii
Albinism, Red hair, Partial albinism OMIM:203290
Cataract 47
Glycosuria, Microcornea, Cataract OMIM:612018
Corneal Dystrophy, Posterior Polymorphous, 2
Corneal opacity, Corneal dystrophy OMIM:609140
Split-Hand With Congenital Nystagmus, Fundal Changes, And Cataracts
Cataract, Split hand, Split foot, Hand monodactyly OMIM:183800
Cataract 9, Multiple Types
Developmental cataract, Microcornea, Cataract, Progressive cataract, Iris coloboma OMIM:604219
Severe Intellectual Disability And Progressive Spastic Paraplegia
Progressive spastic paraplegia, Dystonia, Motor stereotypy, Spastic dysarthria, Overweight, Short... ORPHA:280763
Ataxia, Spastic, Childhood-Onset, Autosomal Recessive, With Optic Atrophy And Mental Retardation
Dysmetria, Tremor, Poor coordination, Spasticity, Clumsiness, Babinski sign, Spastic ataxia, Ankl... OMIM:270500
Parkinson Disease 11, Autosomal Dominant, Susceptibility To
Rigidity, Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Resting ... OMIM:607688
Trichodysplasia-Xeroderma
Brittle hair, Coarse hair, Pili torti, Sparse eyebrow, Alopecia, Slow-growing hair, Sparse pubic ... OMIM:190360
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Abnormality of the ovary, Hypogonadism, Decreased testicular size ORPHA:1875
Megalocornea
Corneal arcus, Iridodonesis, Cataract, Astigmatism, Lens subluxation, Mosaic corneal dystrophy, D... OMIM:309300
Ichthyosis Prematurity Syndrome
Pruritus, Erythroderma, Allergic rhinitis, Hyperpigmentation of the skin, Follicular hyperkeratos... OMIM:608649
Migraine, Familial Hemiplegic, 1
Ataxia, Hemiplegia, Hemiparesis, Tremor OMIM:141500
Palmoplantar Keratoderma And Congenital Alopecia 1
Brittle hair, Palmoplantar keratoderma, Epidermal hyperkeratosis, Nail dysplasia, Sparse eyebrow,... OMIM:104100
Spinocerebellar Ataxia Type 38
Gait ataxia, Tremor ORPHA:423296
Weismann-Netter Syndrome
Bowing of the long bones, Abnormal hip bone morphology, Abnormality of the ulna, Tibial bowing, A... ORPHA:3344
Leber Congenital Amaurosis 1
Eye poking, Sensorineural hearing impairment, Cataract, Growth delay, Pigmentary retinopathy, Hyp... OMIM:204000
Ichthyosis, Congenital, Autosomal Recessive 2
Small nail, Paralysis, Hypohidrosis, Palmoplantar keratoderma, Abnormal hair morphology, Erythema... OMIM:242100
Galactosemia Iv
Cataract OMIM:618881
Microcephalic Primordial Dwarfism, Toriello Type
Clinodactyly, Short palm, Cataract, Short middle phalanx of toe, Micrognathia, Short proximal pha... OMIM:251190
Spinocerebellar Ataxia, Autosomal Recessive 21
Frequent falls, Splenomegaly, Ataxia, Gait ataxia, Spasticity, Talipes equinovarus, Tremor OMIM:616719
Autosomal Recessive Spastic Paraplegia Type 69
Progressive spastic paraplegia, Hand tremor, Spastic dysarthria, Cataract, Lower limb spasticity,... ORPHA:401830
Lopes-Maciel-Rodan Syndrome
Abnormal pyramidal sign, Hypertonia, Dystonia, Bradykinesia, Tremor, Spasticity, Small hand, Shor... OMIM:617435
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Ankle clonus, Parkinsonism, Dystonia, Oromandibular dystonia, Bradykinesia, Scissor gait, Spastic... ORPHA:521406
Urocanase Deficiency
Fair hair, Blue irides, Ataxia, Short stature, Tremor OMIM:276880
Keratoderma Hereditarium Mutilans
Abnormality of the nail, Sensorineural hearing impairment, Honeycomb palmoplantar hyperkeratosis,... ORPHA:494
Pili Torti
Abnormality of the nail, Brittle hair, Pili torti, Abnormality of hair texture, Alopecia, Abnorma... ORPHA:2889
Rhizomelic Chondrodysplasia Punctata
Rhizomelia, Cataract, Sparse body hair, Growth delay, Short stature, Alopecia, Dry skin ORPHA:177
Dwarfism With Stiff Joints And Ocular Abnormalities
Delayed ossification of carpal bones, Cataract, Short phalanx of finger, Lower limb undergrowth, ... OMIM:127200
Progressive Supranuclear Palsy-Corticobasal Syndrome
Abnormal pyramidal sign, Frequent falls, Focal dystonia, Apraxia, Involuntary movements, Bradykin... ORPHA:240103
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Ataxia, Babinski sign, Abnormality of extrapyramidal motor function, Myoclonus, Tremor OMIM:615362
Multiple Carboxylase Deficiency
Spastic paraparesis, Ataxia, Hyperammonemia, Alopecia, Hearing impairment, Skin rash ORPHA:148
Netherton Syndrome
Brittle hair, Parakeratosis, Sparse eyebrow, Erythroderma, Failure to thrive, Allergic rhinitis, ... OMIM:256500
Spinocerebellar Ataxia Type 12
Abnormal pyramidal sign, Action tremor, Parkinsonism, Intention tremor, Bradykinesia, Ataxia, Tre... ORPHA:98762
Parkinson Disease 2, Autosomal Recessive Juvenile
Parkinsonism, Dystonia, Bradykinesia, Rigidity, Tremor OMIM:600116
Fraxe Intellectual Disability
Intrauterine growth retardation, Prominent ear helix, Recurrent hand flapping, Short stature, Ste... ORPHA:100973
Microcephaly, Growth Retardation, Cataract, Hearing Loss, And Unusual Appearance
Decreased body weight, Cryptorchidism, Cataract, Eczema, Short stature, Postnatal growth retardat... OMIM:612947
Lichen Planopilaris
Pruritus, Pterygium, Hypopigmented skin patches, Onycholysis, Hyperkeratosis, Hepatitis, Alopecia... ORPHA:525
Laurin-Sandrow Syndrome
Toe syndactyly, Talipes, Finger syndactyly, Absent radius, Absent tibia, Cryptorchidism, Mirror i... ORPHA:2378
Sulfite Oxidase Deficiency, Isolated
Choreoathetosis, Generalized dystonia, Ataxia, Fine hair, Elevated circulating creatine kinase co... OMIM:272300
Short Syndrome
Abnormal anterior chamber morphology, Hypoplasia of the iris, Posterior embryotoxon, Sensorineura... ORPHA:3163
Woolly Hair
Hypopigmentation of hair, Brittle hair, Woolly hair, Sparse lateral eyebrow, Cataract, Fine hair,... ORPHA:170
Ectodermal Dysplasia 4, Hair/Nail Type
Brittle hair, Temporal hypotrichosis, Pili torti, Absent eyelashes, Congenital onychodystrophy, S... OMIM:602032
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Primary adrenal insufficiency, Elevated circulating luteinizing hormone level, Ovarian cyst, Elev... ORPHA:90793
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Patchy alopecia, Hypothyroidism, Failure to thrive in infancy, Eczema, Thyroiditis, Alopecia univ... OMIM:606367
Encephalopathy, Progressive, With Or Without Lipodystrophy
Tetraparesis, Abnormal pyramidal sign, Dystonia, Ataxia, Spasticity, Myoclonus, Tremor OMIM:615924
Trichothiodystrophy
Brittle hair, Aplasia/Hypoplasia of the nails, Developmental cataract, Cryptorchidism, Astigmatis... ORPHA:33364
Monilethrix
Abnormality of the nail, Patchy alopecia, Brittle hair, Abnormal eyelash morphology, Cataract, Fi... ORPHA:573
Parkinsonism-Dystonia 1, Infantile-Onset
Abnormal pyramidal sign, Hypertonia, Dystonia, Parkinsonism, Oculogyric crisis, Oromandibular dys... OMIM:613135
Premature Ovarian Failure 2A
Premature ovarian insufficiency OMIM:300511
Crandall Syndrome
Brittle hair, Pili torti, Sensorineural hearing impairment, Aplasia/Hypoplasia of the eyebrow, Sp... ORPHA:202
Juvenile Sialidosis Type 2
Dysmetria, Low-set ears, Loss of ability to walk, Cataract, Corneal opacity, Lower limb spasticit... ORPHA:93399
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Dystonia, Bradykinesia, Postural tremor, Rigidity, Babinski sign, Parkinsonism with favorable res... ORPHA:314632
Hereditary Sensory And Autonomic Neuropathy Type 1
Trophic changes related to pain, Penetrating foot ulcers, Impaired distal tactile sensation, Inab... ORPHA:36386
Acrodermatitis Enteropathica
Abnormality of the nail, Blepharitis, Weight loss, Dry skin, Erythema, Corneal erosion, Cheilitis... ORPHA:37
Adrenoleukodystrophy
Incoordination, Primary adrenal insufficiency, Hearing impairment, Spastic paraplegia, Paraparesi... OMIM:300100
Premature Ovarian Failure 16
Premature ovarian insufficiency, Elevated circulating follicle stimulating hormone level, Decreas... OMIM:618723
Ectodermal Dysplasia-Syndactyly Syndrome 1
Small nail, Patchy alopecia, Coarse hair, Pili torti, Hypoplastic toenails, Sparse eyebrow, Palma... OMIM:613573
Griscelli Syndrome, Type 1
Hypopigmentation of the skin, Silver-gray hair, Accumulation of melanosomes in melanocytes, Melan... OMIM:214450
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency
Premature pubarche, Micropenis, Absent scrotum, Male pseudohermaphroditism, Ambiguous genitalia, ... OMIM:201810
Spondyloperipheral Dysplasia-Short Ulna Syndrome
Irregular epiphyses, Flattened epiphysis, Aplasia/hypoplasia involving bones of the extremities, ... ORPHA:1856
Congenital Disorder Of Glycosylation, Type Ii
Cataract, Hepatomegaly OMIM:607906
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Enlarged kidney, Renal cyst, Splenomegaly, Hepatomegaly, Polycystic kidney dysplasia, Tubulointer... OMIM:263200
Mesomelic Dysplasia, Savarirayan Type
Flared radial metaphysis, Narrow iliac wing, Broad tibial metaphyses, Hypoplasia of proximal radi... ORPHA:85170
Xeroderma Pigmentosum, Complementation Group G
Small for gestational age, Cataract, Ataxia, Growth delay, Spasticity, Tremor OMIM:278780
Spastic Paraplegia 6, Autosomal Dominant
Spastic gait, Lower limb spasticity, Spastic paraplegia, Pes cavus, Clonus, Babinski sign, Tremor OMIM:600363
Johnson Neuroectodermal Syndrome
Hypohidrosis, Absent eyelashes, Multiple cafe-au-lait spots, Conductive hearing impairment, Atres... ORPHA:2316
Mucolipidosis Type Iii
Hearing abnormality, Short stature, Corneal opacity, Acne ORPHA:577
Baralle-Macken Syndrome
Dystonia, Striae distensae, Cataract, Obesity, Inability to walk, Cafe-au-lait spot, Spasticity, ... OMIM:619255
Primary Dystonia, Dyt2 Type
Torsion dystonia, Generalized dystonia, Blepharospasm, Involuntary movements, Limb dystonia, Tort... ORPHA:99657
Epilepsy, Progressive Myoclonic, 1B
Dysmetria, Babinski sign, Tremor OMIM:612437
Bilateral Striopallidodentate Calcinosis
Corneal opacity, Intrauterine growth retardation ORPHA:1980
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Hypokalemia, Cataract, Nail dysplasia, Hypocalcemia, Nail dystrophy, Paresthesia, Hyperpigmentati... OMIM:175500
Christianson Syndrome
Dystonia, Motor stereotypy, Thick eyebrow, Gait ataxia, Macrotia, Cachexia, Truncal ataxia ORPHA:85278
Metaphyseal Dysplasia, Braun-Tinschert Type
Upper limb metaphyseal widening, Flared femoral metaphysis, Broad femoral neck, Deformed humerus,... ORPHA:85188
Alopecia-Contractures-Dwarfism Mental Retardation Syndrome
Severe short stature, Severe postnatal growth retardation, Large fleshy ears, Alopecia OMIM:203550
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Adrenal hyperplasia, Adrenogenital syndrome, Hypospadias OMIM:201910
Eiken Syndrome
Metaphyseal irregularity, Abnormal fingertip morphology, Short palm, Delayed epiphyseal ossificat... ORPHA:79106
Slc35A2-Cdg
Aplasia/hypoplasia involving bones of the extremities, Spastic tetraparesis, Coxa valga, Abnormal... ORPHA:356961
Intellectual Developmental Disorder, Autosomal Recessive 73
Low-set ears, Poor coordination, Recurrent hand flapping, Gait ataxia, Posteriorly rotated ears OMIM:619717
Orofaciodigital Syndrome Iv
Brachydactyly, Clinodactyly, Toe syndactyly, Foot polydactyly, Hand polydactyly, Micrognathia, Sh... OMIM:258860
Multiple Epiphyseal Dysplasia, Beighton Type
Brachydactyly, Flat capital femoral epiphysis, Reduced proximal interphalangeal joint space, Abno... ORPHA:166011
Multiple Epiphyseal Dysplasia With Robin Phenotype
Brachydactyly, Flat capital femoral epiphysis, Irregular epiphyses, Flattened epiphysis, Prominen... OMIM:601560
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Low-set, posteriorly rotated ears, Short stature, Corneal opacity, Intrauterine growth retardation ORPHA:2370
Autoimmune Polyendocrinopathy Type 1
Primary adrenal insufficiency, Hypopigmented skin patches, Cataract, Decreased circulating aldost... ORPHA:3453
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome
Cataract, Aplasia/Hypoplasia of the lens, Hypoplasia of penis, Genu valgum, Hypospadias ORPHA:1381
Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp
Writer's cramp, Paroxysmal dystonia, Myoclonus, Tremor OMIM:608105
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques
Palmoplantar hyperhidrosis, Palmoplantar keratoderma, Sensorineural hearing impairment, Erythema,... ORPHA:659
Griscelli Syndrome, Type 2
Accumulation of melanosomes in melanocytes, Hypopigmentation of the skin, Melanin pigment aggrega... OMIM:607624
Behr Syndrome
Achilles tendon contracture, Dysmetria, Ataxia, Progressive spasticity, Babinski sign, Tremor OMIM:210000
Endocrine-Cerebroosteodysplasia
Brachydactyly, Enlarged kidney, Micropenis, Sandal gap, Preaxial polydactyly, Micrognathia, Polyd... OMIM:612651
4Q21 Microdeletion Syndrome
Generalized hirsutism, Intrauterine growth retardation, Low-set ears, Long eyelashes, Motor stere... ORPHA:238750
Dystonia 13, Torsion, Autosomal Dominant
Torsion dystonia, Blepharospasm, Tremor, Limb dystonia, Torticollis, Writer's cramp, Oromandibula... OMIM:607671
Biotinidase Deficiency
Recurrent skin infections, Sensorineural hearing impairment, Ataxia, Seborrheic dermatitis, Alope... OMIM:253260
Corticobasal Syndrome
Parkinsonism, Dystonia, Involuntary movements, Bradykinesia, Limb apraxia, Limb dystonia, Speech ... ORPHA:454887
Waardenburg Syndrome, Type 2B
Premature graying of hair, Sensorineural hearing impairment, White forelock, Heterochromia iridis OMIM:600193
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Enlarged kidney, Long toe, Ureteral duplication, Abnormal foot morphology, Cataract, Tapered fing... OMIM:608836
Aicardi-Goutieres Syndrome 6
Rigidity, Hemolytic anemia, Dystonia, Tremor OMIM:615010
Congenital Rubella Syndrome
Intrauterine growth retardation, Abnormality of retinal pigmentation, Cataract, Corneal opacity, ... ORPHA:290
Hyperphenylalaninemia, Bh4-Deficient, C
Dystonia, Choreoathetosis, Tremor, Myoclonus, Hypertonia OMIM:261630
Cdkl5-Deficiency Disorder
Stereotypical hand wringing, Impaired pain sensation, Growth delay, Synophrys, Gait disturbance, ... ORPHA:505652
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Abnormal thumb morphology, Long foot, Enlarged kidney, Bifid ureter, Renal malrotation, Cataract,... ORPHA:500095
Atypical Rett Syndrome
Dystonia, Pill-rolling tremor, Apraxia, Impaired pain sensation, Involuntary movements, Stereotyp... ORPHA:3095
Sialidosis Type 2
Corneal opacity, Ataxia, Short stature, Hearing impairment, Tremor ORPHA:87876
Autosomal Recessive Palmoplantar Keratoderma And Congenital Alopecia
Palmoplantar keratoderma, Cataract, Nail dystrophy, Alopecia totalis, Lack of skin elasticity ORPHA:1366
Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness
Brachydactyly, Coxa valga, Cataract, Short phalanx of finger, Genu valgum, Epiphyseal dysplasia OMIM:132450
Lichtenstein-Knorr Syndrome
Dysmetria, Action tremor, Ataxia, Gait ataxia, Dysdiadochokinesis, Limb ataxia OMIM:616291
Sialidosis Type 1
Sensorineural hearing impairment, Cataract, Corneal opacity, Ataxia, Hyperkeratosis, Short statur... ORPHA:812
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Hypothyroidism, Primary adrenal insufficiency, Vitiligo, Iridocyclitis, Pigmentary retinopathy, A... OMIM:240300
Cronkhite-Canada Syndrome
Patchy alopecia, Abnormality of skin pigmentation, Hypoplastic toenails, Aplasia/Hypoplasia of th... ORPHA:2930
Ophthalmomandibulomelic Dysplasia
Coxa valga, Fibular hypoplasia, Ulnar deviated club hands, Lateral humeral condyle aplasia, Opaci... OMIM:164900
Epilepsy, Familial Adult Myoclonic, 4
Myoclonus, Tremor OMIM:615127
Waardenburg Syndrome, Type 4A
Premature graying of hair, White eyebrow, Heterochromia iridis, Hypopigmented skin patches, Senso... OMIM:277580
Anterior Segment Dysgenesis 8
Uveal ectropion, Iridodonesis, Persistent pupillary membrane, Hypoplasia of the iris, Cataract, I... OMIM:617319
Phenylketonuria
Fair hair, Cataract, Blue irides, Eczema, Maternal hyperphenylalaninemia, Generalized hypopigment... OMIM:261600
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Large earlobe, Long eyelashes, Prominent ear helix, Thick eyebrow, Motor stereotypy, Inability to... ORPHA:411986
Johnson Neuroectodermal Syndrome
Hypohidrosis, Absent eyelashes, Multiple cafe-au-lait spots, Conductive hearing impairment, Atres... OMIM:147770
Tyrosinemia Type 2
Abnormality of the nail, Palmoplantar keratoderma, Corneal opacity, Ataxia, Hyperkeratosis, Hyper... ORPHA:28378
Microcephalic Osteodysplastic Dysplasia, Saul-Wilson Type
Short palm, Cone-shaped epiphyses of the phalanges of the hand, Cataract, Hypoplasia of the odont... ORPHA:85172
Jaberi-Elahi Syndrome
Dysmetria, Dystonia, Choreoathetosis, Low-set ears, Cataract, Sparse eyebrow, Inability to walk, ... OMIM:617988
Obesity Due To Prohormone Convertase I Deficiency
Gonadotropin deficiency, Delayed puberty, Hypopigmentation of the skin, Obesity, Central adrenal ... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Gonadotropin deficiency, Delayed puberty, Hypopigmentation of the skin, Obesity, Central adrenal ... ORPHA:71526
Omenn Syndrome
Hypoproteinemia, Pneumonia, Erythroderma, Failure to thrive, Alopecia, Hypoplasia of the thymus OMIM:603554
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Spastic gait, Dystonia, Resting tremor, Parkinsonism, Choreoathetosis, Apraxia, Spastic tetrapleg... OMIM:300055
Spinocerebellar Ataxia, Autosomal Recessive 2
Incoordination, Dysmetria, Ataxia, Gait ataxia, Pes cavus, Spasticity, Limb ataxia, Tremor OMIM:213200
Chilblain Lupus
Pruritis on hand, Hyperkeratosis, Malar rash, Discoid lupus rash, Inflammatory abnormality of the... ORPHA:90280
Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome
Generalized hyperkeratosis, Absent pubic hair, Sparse eyebrow, Cutis laxa, Unsteady gait, Scaling... ORPHA:2269
Upper Limb Defect-Eye And Ear Abnormalities Syndrome
Short metacarpal, Cataract, Short thumb ORPHA:2489
Fucosidosis
Abnormality of the nail, Hypothyroidism, Abnormal pyramidal sign, Generalized hyperkeratosis, Spa... ORPHA:349
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 2
Dysmetria, Short palm, Small hand, Dysdiadochokinesis, Truncal ataxia, Short foot, Tremor OMIM:610185
Menkes Disease
Brittle hair, Intrauterine growth retardation, Hypopigmentation of the skin, Decreased circulatin... OMIM:309400
Dermoids Of Cornea
Corneal opacity OMIM:304730
Chorea, Remitting, With Nystagmus And Cataract
Cataract OMIM:601372
Gomez-Lopez-Hernandez Syndrome
Low-set ears, Ataxia, Short stature, Posteriorly rotated ears, Alopecia, Opacification of the cor... OMIM:601853
Femoral-Facial Syndrome
Abnormality of pelvic girdle bone morphology, Preaxial foot polydactyly, Abnormality of fibula mo... ORPHA:1988
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Hypothyroidism, Glomerulonephritis, Eczema, Erythroderma, Failure to thrive, Hepatitis, Alopecia,... OMIM:304790
Monilethrix
Brittle hair, Perifollicular hyperkeratosis, Nail dysplasia, Nail dystrophy, Abnormality of hair ... OMIM:158000
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form
Decreased serum zinc, Decreased plasma total carnitine, Recurrent skin infections, Gastrointestin... ORPHA:79408
Peroxisomal Fatty Acyl-Coa Reductase 1 Disorder
Spastic tetraparesis, Cataract, Growth delay, Highly arched eyebrow, Spasticity, Macrotia OMIM:616154
Charcot-Marie-Tooth Disease, Axonal, Type 2X
Pes cavus, Abnormal foot morphology, Ankle flexion contracture, Tremor OMIM:616668
Parkinson Disease 14, Autosomal Recessive
Parkinsonism, Dystonia, Apraxia, Bradykinesia, Rigidity, Spasticity, Clumsiness, Tremor OMIM:612953
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Hypopigmentation of hair, Albinism, Hypopigmentation of the skin, Short stature, Pallor ORPHA:2786
Ichthyosis, Congenital, Autosomal Recessive 6
Palmoplantar keratoderma, Hypohidrosis, Orthokeratosis, Parakeratosis, Hyperkeratosis, Erythroder... OMIM:612281
Prolidase Deficiency
Generalized hirsutism, Pruritus, Palmoplantar keratoderma, Abnormality of retinal pigmentation, W... ORPHA:742
Nicolaides-Baraitser Syndrome
Long eyelashes, Cryptorchidism, Severe short stature, Abnormal hair pattern, Highly arched eyebro... ORPHA:3051
Congenital Sialidosis Type 2
Dysmetria, Developmental cataract, Petechiae, Low-set ears, Cataract, Corneal opacity, Ataxia, Sp... ORPHA:93400
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset
Abnormal pyramidal sign, Dysmetria, Dystonia, Ataxia, Gait ataxia, Limb ataxia, Dysdiadochokinesi... OMIM:617145
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Motor stereotypy, Upper limb spasticity, Tremor, Overweight, Short stature, Macrotia, Gait distur... ORPHA:457240
Peroxisome Biogenesis Disorder 8A (Zellweger)
Epiphyseal stippling, Cataract, Hepatomegaly OMIM:614876
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Fibular hypoplasia, Cryptorchidism, Mesomelic leg shortening, Micrognathia, Hypoplastic iliac win... OMIM:609945
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy
Ridged nail, Alopecia, Nail pits, Nail dystrophy OMIM:601705
Alopecia-Intellectual Disability Syndrome 4
Erythroderma, Bilateral cryptorchidism, Alopecia OMIM:618840
Chanarin-Dorfman Syndrome
Subcapsular cataract, Sensorineural hearing impairment, Microtia, Ataxia, Alopecia OMIM:275630
Parkinson Disease 22, Autosomal Dominant
Bradykinesia, Resting tremor, Tremor OMIM:616710
Dermatitis, Atopic
Pruritus, Recurrent skin infections, Dry skin, Cataract, Facial erythema, Eczema, Allergic rhinit... OMIM:603165
Mucous Membrane Pemphigoid
Corneal opacity ORPHA:46486
Yemenite Deaf-Blind Hypopigmentation Syndrome
Severe sensorineural hearing impairment, Numerous pigmented freckles, Microcornea, White forelock... OMIM:601706
Autosomal Dominant Polycystic Kidney Disease
Enlarged kidney, Pyelonephritis, Renal cyst, Nephrolithiasis, Hematuria, Decreased glomerular fil... ORPHA:730
Trichothiodystrophy 8, Nonphotosensitive
Woolly hair, Spastic diplegia, Sparse eyebrow, Craniofacial dystonia, Cutis laxa, Trichorrhexis n... OMIM:619691
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Ectopic kidney, Cystic renal dysplasia, Cataract, Abnormality of the kidney, Hepatomegaly OMIM:613730
Ataxia-Telangiectasia
Premature graying of hair, Hypopigmentation of hair, Polycystic ovaries, Multiple cafe-au-lait sp... ORPHA:100
Spastic Paraplegia 5A, Autosomal Recessive
Spastic gait, Sensorineural hearing impairment, Cataract, Spastic paraplegia, Impaired vibration ... OMIM:270800
Microphthalmia, Isolated, With Coloboma 3
Cataract, Iris coloboma OMIM:610092
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Short stature, Hypopigmentation of hair, Partial albinism ORPHA:90023
Glaucoma 3, Primary Congenital, D
Corneal opacity, Ectopia lentis, Primary congenital glaucoma OMIM:613086
Pachydermoperiostosis
Palmoplantar keratoderma, Arthritis, Abnormal hair pattern, Elevated circulating growth hormone c... ORPHA:2796
Pachyonychia Congenita
Palmoplantar hyperhidrosis, Palmoplantar keratoderma, Onychogryposis of fingernail, Angular cheil... ORPHA:2309
Aniridia And Absent Patella
Cataract, Aniridia, Aplasia/Hypoplasia of the patella OMIM:106220
Chilblain Lupus 1
Abnormality of the nail, Skin ulcer, Chilblains OMIM:610448
Ovarian Dysgenesis 2
Gonadal hypoplasia, Hypergonadotropic hypogonadism, Abnormality of the uterus, Premature ovarian ... OMIM:300510
Glut1 Deficiency Syndrome 2
Dystonia, Choreoathetosis, Ataxia, Reticulocytosis, Tremor OMIM:612126
Lysinuric Protein Intolerance
Increased circulating ferritin concentration, Abnormal circulating serine concentration, Hypercho... ORPHA:470
Dermatoosteolysis, Kirghizian Type
Keratitis, Skin ulcer, Nail dysplasia, Nail dystrophy OMIM:221810
Acheiropodia
Abnormality of epiphysis morphology, Absent radius, Aplasia of the ulna, Fibular aplasia, Abnorma... ORPHA:931
Congenital Lethal Erythroderma
Congenital exfoliative erythroderma, Failure to thrive, Dry skin, Hypoalbuminemia ORPHA:1954
Spinocerebellar Ataxia Type 37
Cogwheel rigidity, Dysdiadochokinesis, Limb dysmetria, Truncal ataxia, Myoclonus, Tremor ORPHA:363710
Congenital Heart Defect-Round Face-Developmental Delay Syndrome
Short stature, Hypopigmentation of hair, Generalized hyperpigmentation ORPHA:1355
Oculocerebral Hypopigmentation Syndrome, Cross Type
Hypopigmentation of hair, Abnormal pyramidal sign, Spastic tetraplegia, Cryptorchidism, Sensorine... ORPHA:2719
Spastic Paraplegia 46, Autosomal Recessive
Spastic gait, Upper limb spasticity, Cataract, Upper limb dysmetria, Head tremor, Impaired vibrat... OMIM:614409
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome
Hypohidrosis, Abnormal helix morphology, Intrauterine growth retardation, Severe short stature, A... ORPHA:1005
Hereditary Mucoepithelial Dysplasia
Corneal dystrophy, Cataract, Fine hair, Hyperkeratosis, Alopecia, Sparse hair ORPHA:1839
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Clinodactyly, Talipes, Cryptorchidism, Elevated circulating luteinizing hormone level, Abnormal e... ORPHA:95699
Gm1 Gangliosidosis
Generalized hirsutism, Dystonia, Generalized dystonia, Low-set ears, Infectious encephalitis, Cor... ORPHA:354
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3
Dysmetria, Hammertoe, Ataxia, Gait ataxia, Pes cavus, Tremor OMIM:618387
Mietens Syndrome
Hypoplasia of the ulna, Talipes, Coxa valga, Sclerocornea, Microcornea, Cataract, Corneal opacity... ORPHA:2557
Exfoliation Syndrome
Pseudoexfoliation, Abnormality of the lens, Cataract, Phakodonesis, Lens subluxation, Iris hypope... OMIM:177650
Cataract 1, Multiple Types
Developmental cataract, Microcornea, Pulverulent cataract, Nuclear cataract, Posterior subcapsula... OMIM:116200
Morm Syndrome
Micropenis, Cataract, Abnormality of the kidney ORPHA:75858
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia
Dystonia, Myoclonus, Tremor OMIM:619651
Waardenburg Syndrome Type 2
Premature graying of hair, Hypopigmentation of hair, Heterochromia iridis, Hypopigmented skin pat... ORPHA:895
Coenzyme Q10 Deficiency, Primary, 4
Abnormal pyramidal sign, Ataxia, Pes cavus, Myoclonus, Tremor OMIM:612016
Cystinosis
Hypothyroidism, Hypokalemia, Abnormal pyramidal sign, Delayed puberty, Motor stereotypy, Corneal ... ORPHA:213
Microphthalmia With Limb Anomalies
Abnormal thumb morphology, Fibular hypoplasia, Cryptorchidism, Sandal gap, Clinodactyly of the 5t... ORPHA:1106
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Increased circulating androstenedione concentration, Adrenogenital syndrome, Hypoplasia of the va... OMIM:202010
Hypohidrotic Ectodermal Dysplasia
Sinusitis, Abnormality of the nail, Hypohidrosis, Dry skin, Inflammatory abnormality of the eye, ... ORPHA:238468
Intellectual Developmental Disorder, X-Linked 109
Intrauterine growth retardation, Poor coordination, Recurrent hand flapping, Short stature, Stere... OMIM:309548
Microcephaly-Micromelia Syndrome
Absent radius, Oligodactyly, Micrognathia, Micromelia, Short tibia, Humeroradial synostosis, Fore... OMIM:251230
Familial Hyperaldosteronism Type Ii
Glucocortocoid-insensitive primary hyperaldosteronism, Adrenal hyperplasia, Secretory adrenocorti... ORPHA:404
Bresek Syndrome
Intrauterine growth retardation, Low-set ears, Cryptorchidism, Alopecia, Growth delay, Protruding... ORPHA:85284
Diaphanospondylodysostosis
Enlarged kidney, Missing ribs, Cystic renal dysplasia, Nephrogenic rest, Hammertoe, Micrognathia,... OMIM:608022
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Cryptorchidism, Male pseudohermaphroditism, Abnormal circulating dehydroepiandrosterone concentra... ORPHA:90791
Myoclonic-Atonic Epilepsy