banner
Genes Phenotypes Help, News, Blog

Gene: Slc30a4 MGI:1345282

Log in to follow

Gene Summary

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

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
increased grip strength Slc30a4em1(IMPC)Tcp HOM Late adult 6.08×10-06
small thymus Slc30a4em1(IMPC)Tcp HOM Late adult 0.00
short tibia Slc30a4em1(IMPC)Tcp HOM Late adult 6.21×10-07
tremors Slc30a4em1(IMPC)Tcp HOM   Late adult 7.59×10-06
decreased grip strength Slc30a4em1(IMPC)Tcp HOM Early adult 1.58×10-05
cataract Slc30a4em1(IMPC)Tcp HOM Early adult 3.40×10-05
abnormal skin morphology Slc30a4em1(IMPC)Tcp HOM Early adult 0.00
small adrenal glands Slc30a4em1(IMPC)Tcp HOM Late adult 0.00
abnormal ovary morphology Slc30a4em1(IMPC)Tcp HOM Late adult 0.00
short tibia Slc30a4em1(IMPC)Tcp HOM Early adult 1.20×10-12
enlarged kidney Slc30a4em1(IMPC)Tcp HOM Early adult 0.00

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 Ophthalmoscopy

92 Images

View images
Gross Pathology and Tissue Collection

Images

9 Images

View images
Eye Morphology

Images Ophthalmoscopy

147 Images

View images
X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

View images
X-ray

XRay Images Skull Lateral Orientation

10 Images

View images
Eye Morphology

Images Slit Lamp

123 Images

View images
X-ray

XRay Images Whole Body Lateral Orientation

10 Images

View images
X-ray

XRay Images Skull Lateral Orientation

10 Images

View images
X-ray

XRay Images Whole Body Dorso Ventral

10 Images

View images
Gross Pathology and Tissue Collection

Images

8 Images

View images
X-ray

XRay Images Whole Body Dorso Ventral

10 Images

View images
Histopathology

Images

11 Images

View images
X-ray

XRay Images Whole Body Lateral Orientation

10 Images

View images
Eye Morphology

Images Slit Lamp

9 Images

View images
X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

View 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
Triphalangeal thumb, Camptodactyly of finger, Short tibia, Foot polydactyly, Toe syndactyly, Hand... ORPHA:93405
Optic Atrophy 2
Absent Achilles reflex, Tremor, Dysdiadochokinesis, Babinski sign OMIM:311050
Erythrokeratodermia Variabilis
Alopecia, Irregular hyperpigmentation, Weight loss, Short stature, Abnormal testis morphology, Sk... ORPHA:317
Polycystic Kidney Disease 5
Stage 5 chronic kidney disease, Enlarged kidney, Polycystic kidney dysplasia, Hepatosplenomegaly,... OMIM:617610
Acromesomelic Dysplasia 2C
Short tibia, Short foot, Hypoplasia of the radius, Radial bowing, Cuboidal metacarpal, Hip disloc... OMIM:201250
Congenital Non-Bullous Ichthyosiform Erythroderma
Alopecia, Hypohidrosis, Corneal erosion, Short stature, Abnormality of the nail, Failure to thriv... ORPHA:79394
Acromesomelic Dysplasia 2A
Short tibia, Short phalanx of finger, Aplasia/Hypoplasia involving the metacarpal bones, Hypoplas... OMIM:200700
Episodic Ataxia, Type 1
Spastic gait, Episodic ataxia, Incoordination, Babinski sign, Slurred speech, Tremor OMIM:160120
Acrocapitofemoral Dysplasia
Short tibia, Flared iliac wing, Short proximal phalanx of finger, Short femur, Enlargement of the... OMIM:607778
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Short tibia, Short 4th metacarpal, Short long bone, Epiphyseal stippling, Short 3rd metacarpal, L... OMIM:118651
Osebold-Remondini Syndrome
Short tibia, Short toe, Short phalanx of finger, Hypoplasia of the radius, Carpal synostosis, Hyp... OMIM:112910
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3
Cerebellar ataxia associated with quadrupedal gait, Slurred speech, Tremor, Ataxia OMIM:613227
Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis
Pes cavus, Tremor, Palmoplantar hyperkeratosis, Spastic paraplegia OMIM:309560
Primary Orthostatic Tremor
Abnormality of extrapyramidal motor function, Tremor ORPHA:238606
Acromesomelic Dysplasia, Grebe Type
Short tibia, Short toe, Aplasia/Hypoplasia of the thumb, Aplasia/Hypoplasia involving the metacar... ORPHA:2098
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Perianal erythema, Short stature, Decreased testicular size, Perioral erythema, Ataxia, Failure t... OMIM:201100
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome
Short tibia, Foot oligodactyly, Hand oligodactyly, Syndactyly, Fibular aplasia, Tibial bowing OMIM:246570
Hereditary Hyperferritinemia-Cataract Syndrome
Cataract ORPHA:163
Cataract 35
Cataract OMIM:609376
Cataract 36
Cataract OMIM:613887
Cataract 29
Cataract OMIM:115800
Langer Mesomelic Dysplasia
Short tibia, Broad ulna, Short femoral neck, Hypoplasia of the radius, Micrognathia, Radial bowin... OMIM:249700
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly
Triphalangeal thumb, Short tibia, Absent tibia, Preaxial polydactyly, Fibular duplication OMIM:188740
Fibular Hemimelia
Short tibia, Hip subluxation, Limited knee flexion/extension, Hypoplastic acetabulae, Renal dyspl... ORPHA:93323
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development
Short tibia, Absent thumb, Short femur, Hypoplasia of the ulna, Aplasia/Hypoplasia of the radius,... OMIM:612447
Hypertrophic Neuropathy And Cataract
Cataract OMIM:239900
Endove Syndrome, Limb-Only Type
Aplasia of the distal phalanges of the toes, Vesicoureteral reflux, Disproportionate shortening o... OMIM:619217
Primary Dystonia, Dyt27 Type
Writer's cramp, Limb dystonia, Upper limb postural tremor, Focal dystonia, Axial dystonia, Action... ORPHA:464440
Graham Little-Piccardi-Lassueur Syndrome
Alopecia, Sparse scalp hair, Sparse axillary hair, Sparse pubic hair, Pruritus, Perifollicular hy... ORPHA:505
Acheiropody
Short tibia, Aplasia of the phalanges of the hand, Absent toe, Aplasia of metacarpal bones, Aplas... OMIM:200500
Dystonia 27
Postural tremor, Writer's cramp, Limb dystonia, Torticollis, Action tremor, Oromandibular dystoni... OMIM:616411
Cataract And Congenital Ichthyosis
Cataract OMIM:212400
Hidrotic Ectodermal Dysplasia
Brittle scalp hair, Slow-growing nails, Palmoplantar hyperkeratosis, Absent pubic hair, Generaliz... ORPHA:189
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness
Short thumb, Cataract OMIM:274205
Leri-Weill Dyschondrosteosis
Short tibia, Short toe, Short 4th metacarpal, Coxa valga, Abnormal carpal morphology, Hypoplasia ... OMIM:127300
Congenital Megacalycosis
Tubulointerstitial nephritis, Dilatation of renal calices, Recurrent urinary tract infections, En... ORPHA:93109
Spinocerebellar Ataxia Type 15/16
Gait ataxia, Tremor by anatomical site, Upper limb postural tremor, Ataxia, Head tremor, Action t... ORPHA:98769
Tremor, Hereditary Essential, 6
Vocal tremor, Head tremor, Kinetic tremor, Postural tremor OMIM:618866
Tremor, Hereditary Essential, 5
Kinetic tremor, Tongue tremor, Postural tremor, Intention tremor OMIM:616736
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type
Short tibia, Hypoplasia of the radius, Pseudoarthrosis OMIM:156230
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive
Conjunctivitis, Alopecia, Sensorineural hearing impairment, Short stature, Decreased circulating ... OMIM:242150
Zinc Deficiency, Transient Neonatal
Alopecia, Eczema, Decreased serum zinc OMIM:608118
Episodic Ataxia With Slurred Speech
Gait ataxia, Slurred speech, Tremor ORPHA:401953
Lethal Faciocardiomelic Dysplasia
Short tibia, Radial club hand, Short 5th finger, Hypoplasia of the radius, Microretrognathia, Hyp... ORPHA:1972
Bardet-Biedl Syndrome 18
Stage 5 chronic kidney disease, Cataract, Renal insufficiency, Brachydactyly OMIM:615995
Odonto-Onycho Dysplasia-Alopecia Syndrome
Sparse body hair, Alopecia, Hypoplastic toenails, Sparse eyebrow, Abnormal fingernail morphology,... ORPHA:2722
Gómez-López-Hernández Syndrome
Toenail dysplasia, Short stature, Ataxia, Impaired pain sensation, Alopecia of scalp, Corneal opa... ORPHA:1532
Léri-Weill Dyschondrosteosis
Short tibia, Abnormal carpal morphology, Abnormal metaphysis morphology, Genu valgum, Abnormality... ORPHA:240
Ichthyosis, Hystrix-Like, With Deafness
Sparse eyebrow, Sparse scalp hair, Sensorineural hearing impairment, Absent eyelashes, Cobbleston... OMIM:602540
Aniridia 3
Cataract OMIM:617142
Spastic Paraparesis And Deafness
Spastic paraparesis, Tremor, Hypogonadism OMIM:312910
Dyschondrosteosis And Nephritis
Short tibia, Short forearm, Radial bowing, Ulnar bowing, Nephritis OMIM:127350
Spinocerebellar Ataxia 43
Gait ataxia, Rigidity, Limb ataxia, Ataxia, Pes cavus, Tremor OMIM:617018
Disordered Steroidogenesis Due To Cytochrome P450 Oxidoreductase Deficiency
Increased circulating ACTH level, Ambiguous genitalia, Congenital adrenal hyperplasia OMIM:613571
Alpha-N-Acetylgalactosaminidase Deficiency Type 3
Cataract, Hepatomegaly ORPHA:79281
Kerion Celsi
Recurrent skin infections, Alopecia, Recurrent cutaneous abscess formation, Inflammatory abnormal... ORPHA:499
Gollop-Wolfgang Complex
Aplasia/Hypoplasia of the tibia, Hand monodactyly, Bifid femur, Ectrodactyly, Aplasia/Hypoplasia ... ORPHA:1986
Leukoencephalopathy, Brain Calcifications, And Cysts
Spasticity, Abnormal pyramidal sign, Abnormality of extrapyramidal motor function, Ataxia, Hemipl... OMIM:614561
Oliver-Mcfarlane Syndrome
Alopecia, Decreased response to growth hormone stimulation test, Central heterochromia, Small for... OMIM:275400
Immunodeficiency, Common Variable, 6
Nephrotic range proteinuria, Stage 5 chronic kidney disease, Enlarged kidney, Mesangial Immune co... OMIM:613496
Primary Dystonia, Dyt13 Type
Postural tremor, Limb dystonia, Torticollis, Focal dystonia, Torsion dystonia, Action tremor, Cra... ORPHA:98807
Neuronopathy, Distal Hereditary Motor, Type Viia
Pes cavus, Vocal cord paresis, Tremor, Vocal cord paralysis OMIM:158580
Mesomelic Dysplasia, Savarirayan Type
Short tibia, Abnormal foot morphology, Hip dislocation, Talipes equinovalgus, Dislocated radial h... OMIM:605274
Corneal Dystrophy, Groenouw Type I
Granular corneal dystrophy, Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy OMIM:121900
Dystonia 3, Torsion, X-Linked
Chorea, Myoclonus, Parkinsonism with favorable response to dopaminergic medication, Torsion dysto... OMIM:314250
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis
Sparse eyebrow, Alopecia, Hypohidrosis, Erysipelas, Elevated circulating creatine kinase concentr... OMIM:615704
Slc39A8-Cdg
Inability to walk, Short stature, Hypomanganesemia, Astigmatism, Disproportionate short-limb shor... ORPHA:468699
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density
Short tibia, Hypoplasia of the radius, Lytic defects of humeral diaphysis, Short femur, Hypoplasi... OMIM:601376
Spinocerebellar Ataxia 20
Gait ataxia, Abnormal pyramidal sign, Postural tremor, Palatal tremor, Limb ataxia, Action tremor OMIM:608687
Tremor, Hereditary Essential, 1
Hand tremor, Action tremor, Postural tremor OMIM:190300
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Irregular hyperpigmentation, Decreased body weight, Corneal erosion, Absent toenail, Decreased pl... ORPHA:89842
Parkinson Disease 15, Autosomal Recessive Early-Onset
Parkinsonism, Rigidity, Abnormality of extrapyramidal motor function, Talipes equinovarus, Parkin... OMIM:260300
Bathing Suit Ichthyosis
Alopecia, Hypohidrosis, Palmoplantar hyperkeratosis, Palmoplantar scaling skin, Scaling skin, Par... ORPHA:100976
Flynn-Aird Syndrome
Alopecia, Progressive sensorineural hearing impairment, Ataxia, Alopecia of scalp, Cataract, Hype... OMIM:136300
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
Sparse body hair, Sparse scalp hair, Melanocytic nevus, Periodontitis, Alopecia universalis, Abno... ORPHA:1008
Hypotrichosis Simplex
Sparse body hair, Alopecia, Sparse eyebrow, Sparse scalp hair, Sparse eyelashes, Sparse hair ORPHA:55654
Perifolliculitis Capitis Abscedens Et Suffodiens, Familial
Alopecia, Alopecia of scalp, Perifolliculitis OMIM:260910
Alopecia Areata 1
Trachyonychia, Alopecia universalis, Alopecia totalis, Nail pits, Patchy alopecia OMIM:104000
Ectodermal Dysplasia-Blindness Syndrome
Hypohidrosis, Abnormality of skin pigmentation, Short stature, Corneal dystrophy, Keratoconjuncti... ORPHA:1806
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss
Abnormal foot morphology, Tremor, Absent patellar reflexes, Decreased patellar reflex OMIM:614369
Hypotrichosis 4
Sparse body hair, Alopecia, Sparse eyebrow, Sparse scalp hair, Uncombable hair, Sparse eyelashes OMIM:146550
Alopecia Universalis Congenita
Absent eyelashes, Alopecia universalis, Absent pubic hair, Absent eyebrow, Absent axillary hair OMIM:203655
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay
Tremor, Ataxia OMIM:213000
Lipoid Congenital Adrenal Hyperplasia
Adrenogenital syndrome, Hypospadias, Congenital adrenal hyperplasia OMIM:201710
Cataract 42
Cataract, Developmental cataract OMIM:115900
Tietz Syndrome
Hypopigmentation of the skin, Abnormality of skin pigmentation, White eyebrow, Hypopigmentation o... ORPHA:42665
Spinal Muscular Atrophy, Jokela Type
Calf muscle hypertrophy, Pes cavus, Tremor, Hammertoe, Pes planus, Fasciculations OMIM:615048
Intellectual Developmental Disorder With Poor Growth And With Or Without Seizures Or Ataxia
Fair hair, Increased LDL cholesterol concentration, Developmental cataract, Gait ataxia OMIM:618808
Alopecia Areata 2
Alopecia of scalp, Alopecia universalis, Patchy alopecia, Alopecia totalis OMIM:610753
Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy
Sparse body hair, Alopecia, Dystrophic toenail, Hypopigmentation of the skin, Alopecia of scalp, ... OMIM:617294
Trichothiodystrophy 1, Photosensitive
Tiger tail banding, Keratoconjunctivitis sicca, Freckling, Erythroderma, Sparse hair, Small nail,... OMIM:601675
Tibial Hemimelia
Short tibia, Polydactyly, Ambiguous genitalia, Coxa valga, Hip dislocation, Metatarsus adductus, ... ORPHA:93322
Candidiasis, Familial, 1
Alopecia, Chronic mucocutaneous candidiasis OMIM:114580
Moynahan Syndrome
Alopecia, Sensorineural hearing impairment, Short stature, Cachexia, Hyperkeratosis, Sparse hair ORPHA:2574
Pili Torti-Onychodysplasia Syndrome
Sparse body hair, Alopecia, Conjunctival hyperemia, Brittle hair, Absent eyelashes, Alopecia univ... ORPHA:2890
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Spasticity, Tremor, Ataxia, Babinski sign OMIM:611105
Neutropenia, Severe Congenital, 9, Autosomal Dominant
3-Methylglutaconic aciduria, Cataract, Splenomegaly OMIM:619813
Palmoplantar Keratoderma And Congenital Alopecia 2
Facial erythema, Palmoplantar hyperkeratosis, Alopecia totalis, Developmental cataract, Nail dysp... OMIM:212360
Spinocerebellar Degeneration-Corneal Dystrophy Syndrome
Corneal dystrophy, Corneal opacity, Ataxia, Progressive cerebellar ataxia ORPHA:3177
Dystonia, Dopa-Responsive
Gait ataxia, Spasticity, Dysdiadochokinesis, Postural tremor, Writer's cramp, Resting tremor, Tor... OMIM:128230
Lamellar Ichthyosis
Lack of skin elasticity, Aplasia/Hypoplasia of the eyebrow, Short stature, Abnormality of the nai... ORPHA:313
Hypotrichosis 11
Aplasia/Hypoplasia of the eyebrow, Alopecia universalis, Sparse hair, Absent axillary hair, Spars... OMIM:615059
Segawa Syndrome, Autosomal Recessive
Gait ataxia, Parkinsonism, Rigidity, Abnormality of extrapyramidal motor function, Myoclonus, Lim... OMIM:605407
Spinocerebellar Ataxia 40
Gait ataxia, Ankle clonus, Dysdiadochokinesis, Ataxia, Spastic paraparesis, Dysmetria, Tremor, In... OMIM:616053
Spastic Paraparesis-Deafness Syndrome
Sensorineural hearing impairment, Short stature, Gait disturbance, Ataxia, Impaired pain sensatio... ORPHA:2815
X-Linked Dominant Chondrodysplasia Punctata
Sparse eyebrow, Erythroderma, Sensorineural hearing impairment, Short stature, Scarring alopecia ... ORPHA:35173
Alopecia, Psychomotor Epilepsy, Pyorrhea, And Mental Subnormality
Congenital alopecia totalis, Alopecia universalis, Periodontitis OMIM:104130
Ichthyosis With Confetti
Decreased body weight, Short stature, Palmoplantar hyperkeratosis, Scaling skin, Erythroderma, Pr... OMIM:609165
Dyskinesia With Orofacial Involvement, Autosomal Recessive
Hypothyroidism, Myoclonus, Tremor, Frequent falls, Dystonia OMIM:619647
Olmsted Syndrome 1
Hyperhidrosis, Orthokeratosis, Opacification of the corneal stroma, Alopecia universalis, Paraker... OMIM:614594
Nephronophthisis 16
Stage 5 chronic kidney disease, Enlarged kidney, Polycystic kidney dysplasia, Nephronophthisis, R... OMIM:615382
Alopecia Universalis
Absent eyelashes, Absent eyebrow, Alopecia universalis, Patchy alopecia ORPHA:701
Laurin-Sandrow Syndrome
Triphalangeal thumb, Broad foot, Patellar aplasia, Absent tibia, Hand polydactyly, Syndactyly, Ab... OMIM:135750
Myoclonus, Familial, 1
Myoclonus, Ataxia, Action tremor, Frequent falls, Action myoclonus OMIM:614937
Classic Mycosis Fungoides
Alopecia, Irregular hyperpigmentation, Skin rash, Skin ulcer, Eczema, Abnormality of the nail, Hy... ORPHA:2584
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome
Alopecia, Fingernail dysplasia, Ridged fingernail, Hypopigmented skin patches, Palmoplantar kerat... ORPHA:2251
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Cone-shaped epiphysis, Postaxial polydactyly, Short ribs, Short long bone, Renal dysplasia, Absen... OMIM:613091
Aldh18A1-Related De Barsy Syndrome
Cataract ORPHA:35664
Spinocerebellar Ataxia, Autosomal Recessive 16
Spasticity, Ankle clonus, Hypogonadism, Truncal ataxia, Limb ataxia, Babinski sign, Tremor OMIM:615768
Clouston Syndrome
Conjunctivitis, Alopecia, Sparse eyebrow, Small nail, Short stature, Brittle hair, Palmoplantar h... OMIM:129500
Thumb Deformity And Alopecia
Alopecia, Short stature, Increased groin pigmentation with raindrop depigmentation OMIM:188150
Peeling Skin Syndrome 1
Short stature, Brittle hair, Palmoplantar hyperhidrosis, Onycholysis, Scaling skin, Erythroderma,... OMIM:270300
L-Ferritin Deficiency
Alopecia, Decreased circulating ferritin concentration OMIM:615604
Absence Deformity Of Leg-Cataract Syndrome
Lower limb undergrowth, Abnormality of the lower limb, Cataract, Abnormality of femur morphology,... ORPHA:2310
Flynn-Aird Syndrome
Alopecia, Cachexia, Skin ulcer, Progressive sensorineural hearing impairment, Primary adrenal ins... ORPHA:2047
Epidermolysis Bullosa Simplex With Mottled Pigmentation
Mottled pigmentation, Alopecia, Hyperkeratotic papule, Mixed hypo- and hyperpigmentation of the s... ORPHA:79397
Ichthyosis, Congenital, Autosomal Recessive 11
Sparse body hair, Sparse eyebrow, Hypohidrosis, Curly hair, Pili torti, Brittle hair, Hyperkerato... OMIM:602400
Ectodermal Dysplasia 6, Hair/Nail Type
Alopecia, Thin toenail, Sparse hair, Dystrophic toenail OMIM:614928
Spinocerebellar Ataxia, Autosomal Recessive 4
Gait ataxia, Spasticity, Abnormal pyramidal sign, Torticollis, Myoclonus, Ataxia, Babinski sign, ... OMIM:607317
Winchester Syndrome
Hirsutism, Corneal opacity OMIM:277950
Spinocerebellar Ataxia Type 20
Gait ataxia, Abnormal pyramidal sign, Tremor by anatomical site, Upper limb postural tremor, Atax... ORPHA:101110
Hepatorenocardiac Degenerative Fibrosis
Renal interstitial fibrosis, Enlarged kidney, Hepatosplenomegaly, Renal cyst, Reduced renal corti... OMIM:619902
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Chorea, Torticollis, Ataxia, Tremor, Hyperkinetic movements, Dystonia OMIM:618425
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Chorea, Parkinsonism, Rigidity, Myoclonus, Upper motor neuron dysfunction, Ataxia, Tremor, Dystonia ORPHA:401901
Sandhoff Disease, Adult Form
Gait ataxia, Spasticity, Focal dystonia, Tremor, Dystonia, Fasciculations ORPHA:309169
Parkinsonism With Spasticity, X-Linked
Spasticity, Resting tremor, Parkinsonism, Babinski sign, Cogwheel rigidity, Bradykinesia OMIM:300911
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia
Toenail dysplasia, Alopecia, Hypoplastic toenails, Sparse scalp hair, Fingernail dysplasia, Ectop... ORPHA:2325
Galactosemia Ii
Cataract, Galactosuria OMIM:230200
Tibial Aplasia-Ectrodactyly Syndrome
Aplasia/Hypoplasia of the tibia, Preaxial hand polydactyly, Finger syndactyly, Patellar aplasia, ... ORPHA:3329
Corneal Dystrophy-Perceptive Deafness Syndrome
Corneal dystrophy, Sensorineural hearing impairment, Corneal opacity ORPHA:1490
Orofaciodigital Syndrome Type 10
Short tibia, Short toe, Mesomelic leg shortening, Micrognathia, Metatarsal synostosis, Oligodacty... ORPHA:2756
Bullous Dystrophy, Hereditary Macular Type
Hyperpigmentation of the skin, Alopecia totalis, Severe short stature, Abnormality of the nail OMIM:302000
Familial Reactive Perforating Collagenosis
Hyperkeratotic papule, Perifolliculitis, Inflammatory abnormality of the skin, Crusting erythemat... ORPHA:79147
Spinocerebellar Ataxia Type 31
Gait ataxia, Spasticity, Tremor ORPHA:217012
Dyskinesia, Limb And Orofacial, Infantile-Onset
Chorea, Hemiballismus, Tremor, Frequent falls, Hyperkinetic movements OMIM:616921
Trichomegaly
Cataract OMIM:190330
Alopecia Totalis
Alopecia, Alopecia of scalp ORPHA:700
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia
Alopecia, Hypohidrosis, Fine hair, Abnormal fingernail morphology, Abnormal toenail morphology, A... ORPHA:248
Blount Disease
Tibial bowing, Abnormality of the knee, Abnormality of the proximal tibial epiphysis, Abnormal ti... ORPHA:2768
Cataract-Microcornea Syndrome
Microcornea, Cataract, Iris coloboma, Corneal opacity, Corneal dystrophy ORPHA:1377
X-Linked Agammaglobulinemia
Conjunctivitis, Alopecia, Osteomyelitis, Sensorineural hearing impairment, Weight loss, Short sta... ORPHA:47
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Alopecia, Aplasia/Hypoplasia of the iris, Hypopigmentation of hair, Cataract, Corneal opacity, Pe... ORPHA:1067
Alopecia-Intellectual Disability Syndrome 1
Alopecia, Alopecia universalis OMIM:203650
Chromosome 17P13.3, Telomeric, Duplication Syndrome
Short tibia, Short toe, Short phalanx of finger, Absent toe, Short metacarpal, Absent tibia, Camp... OMIM:612576
Pigmented Nodular Adrenocortical Disease, Primary, 3
Increased circulating cortisol level, Adrenal hyperplasia OMIM:614190
Gonadoblastoma
Ambiguous genitalia, Increased serum testosterone level, Gonadal dysgenesis with female appearanc... ORPHA:206484
Parc Syndrome
Absent eyelashes, Alopecia, Absent eyebrow OMIM:600331
Growth Delay-Intellectual Disability-Hepatopathy Syndrome
Sensorineural hearing impairment, Dermal translucency, Growth delay, Esophagitis, Intrauterine gr... ORPHA:541423
Spinocerebellar Ataxia 37
Tremor, Frequent falls, Ataxia OMIM:615945
Alopecia, Congenital
Alopecia, Sparse hair OMIM:300042
Griscelli Syndrome, Type 1
Hypopigmentation of the skin, White eyelashes, White eyebrow, Accumulation of melanosomes in mela... OMIM:214450
Tremor, Hereditary Essential, 4
Action tremor, Postural tremor OMIM:614782
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant
Facial erythema, Alopecia, Sparse eyebrow, Conjunctivitis, Folliculitis, Scarring alopecia of sca... OMIM:612843
Griscelli Syndrome, Type 3
Silver-gray hair, White eyelashes, Large clumps of pigment irregularly distributed along hair shaft OMIM:609227
Hereditary Bullous Dystrophy, Macular Type
Alopecia, Short stature, Decreased testicular size, Congenital abnormal hair pattern, Spotty hypo... ORPHA:1867
Satoyoshi Syndrome
Genu varum, Abnormality of the knee, Tapered finger, Abnormality of the humerus, Abnormality of t... ORPHA:3130
Orofaciodigital Syndrome Viii
Short tibia, Polydactyly, Syndactyly OMIM:300484
Galactosialidosis
Hearing impairment, Corneal opacity ORPHA:351
Meckel Syndrome, Type 8
Polydactyly, Enlarged kidney, Polycystic kidney dysplasia, Hyperechogenic kidneys, Talipes equino... OMIM:613885
Quinquaud Folliculitis Decalvans
Scarring alopecia of scalp, Pustule, Patchy alopecia, Erythema, Recurrent skin infections, Abnorm... ORPHA:346
Epidermolysis Bullosa Simplex 5D, Generalized Intermediate, Autosomal Recessive
Alopecia, Pruritus, Nail dystrophy, Plantar hyperkeratosis OMIM:616487
Renal Dysplasia
Vesicovaginal fistula, Congenital posterior urethral valve, Moderate proteinuria, Abnormal renal ... ORPHA:93108
Rhizomelic Chondrodysplasia Punctata, Type 1
Alopecia, Sensorineural hearing impairment, Rhizomelia, Elevated circulating phytanic acid concen... OMIM:215100
Sézary Syndrome
Alopecia, Irregular hyperpigmentation, Palmoplantar keratoderma, Dry skin, Tremor, Erythroderma, ... ORPHA:3162
Nephronophthisis 2
Stage 5 chronic kidney disease, Enlarged kidney, Absence of renal corticomedullary differentiatio... OMIM:602088
Spastic Ataxia 2, Autosomal Recessive
Gait ataxia, Spasticity, Spastic ataxia, Babinski sign, Dysmetria, Tremor, Frequent falls, Head t... OMIM:611302
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Enlarged kidney, Splenomegaly, Hepatomegaly OMIM:615285
Aa Amyloidosis
Nephrotic syndrome, Acute kidney injury, Enlarged kidney, Abnormality of the kidney, Nephropathy,... ORPHA:85445
Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome
Alopecia, Sparse eyebrow, Sparse scalp hair, Dystrophic toenail, Melanocytic nevus, Hypothyroidis... ORPHA:1882
Parkinson Disease 13, Autosomal Dominant, Susceptibility To
Rigidity, Tremor, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia OMIM:610297
Congenital Disorder Of Glycosylation, Type Ig
Short tibia, Small scrotum, Rhizomelia, Short ribs, Hypoplasia of the radius, Short femur, Hyposp... OMIM:607143
Netherton Syndrome
Sparse eyebrow, Irregular hyperpigmentation, Sparse scalp hair, Trichorrhexis nodosa, Short statu... ORPHA:634
Hyperaldosteronism, Familial, Type I
Hyperaldosteronism, Decreased circulating renin level, Adrenogenital syndrome, Adrenal hyperplasia OMIM:103900
Epilepsy, Progressive Myoclonic, 1B
Myoclonus, Ataxia, Babinski sign, Dysmetria, Tremor OMIM:612437
Spondyloepimetaphyseal Dysplasia, Missouri Type
Genu varum, Metaphyseal irregularity, Short lower limbs, Tibial bowing, Femoral bowing, Flared me... ORPHA:93356
Cataract-Nephropathy-Encephalopathy Syndrome
Cataract, Renal tubular dysfunction ORPHA:1380
Hyperzincemia With Functional Zinc Depletion
Skin rash, Increased serum zinc OMIM:601979
Chondrodysplasia Punctata 2, X-Linked Dominant
Sparse eyebrow, Rhizomelia, Elevated 8(9)-cholestenol, Failure to thrive, Cataract, Elevated 8-de... OMIM:302960
46,Xx Testicular Disorder Of Sex Development
Male hypogonadism, Polycystic ovaries, Ambiguous genitalia, Decreased testicular size ORPHA:393
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay
Cataract, Developmental cataract OMIM:613076
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Erythroderma, Orthokeratosis, Palmoplantar keratoderma, Growth delay, Recurrent skin infections, ... OMIM:615508
Trichodysplasia-Xeroderma Syndrome
Sparse body hair, Alopecia, Sparse eyebrow, Sparse scalp hair, Trichorrhexis nodosa, Pili torti, ... ORPHA:3361
Intellectual Developmental Disorder, X-Linked, Syndromic, Armfield Type
Cataract, Short foot, Small hand OMIM:300261
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome
Aplasia/Hypoplasia of the tibia, Aplasia/Hypoplasia of the thumb, Patellar aplasia, Synostosis of... ORPHA:988
46,Xx Disorder Of Sex Development-Skeletal Anomalies Syndrome
Increased size of the clitoris, Mandibular condyle hypoplasia, Ambiguous genitalia, female, Micro... ORPHA:2975
Severe Combined Immunodeficiency Due To Foxn1 Deficiency
Congenital alopecia totalis, Ridged nail, Nail pits ORPHA:169095
Pityriasis Rubra Pilaris
Irregular hyperpigmentation, Eczema, Abnormality of the nail, Pustule, Palmoplantar keratoderma, ... ORPHA:2897
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Tremor, Kinetic tremor OMIM:611808
Autosomal Dominant Epidermolytic Ichthyosis
Weight loss, Skin ulcer, Hyperkeratosis, Conjunctival hamartoma, Erythroderma, Palmoplantar kerat... ORPHA:312
Acrofacial Dysostosis Syndrome Of Rodriguez
Short tibia, 11 pairs of ribs, Triphalangeal thumb, Micrognathia, Clinodactyly, Oligodactyly, Ove... OMIM:201170
Alopecia-Intellectual Disability-Hypergonadotropic Hypogonadism Syndrome
Alopecia totalis ORPHA:1014
Hyperphenylalaninemia, Bh4-Deficient, D
Tremor, Hypertonia OMIM:264070
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly
Hand monodactyly, Absent tibia, Bifid femur, Aplasia of the ulna, Split hand, Foot monodactyly OMIM:228250
Alopecia, Familial Focal
Patchy alopecia OMIM:104110
Alopecia-Intellectual Disability Syndrome 3
Alopecia universalis OMIM:613930
Alopecia-Intellectual Disability Syndrome 2
Alopecia universalis OMIM:610422
Alopecia, Androgenetic, 1
Alopecia OMIM:109200
Spinocerebellar Ataxia 38
Gait ataxia, Myoclonus, Limb ataxia, Ataxia, Tremor OMIM:615957
Short Rib-Polydactyly Syndrome
Short tibia, Polydactyly, Abnormal pelvis bone ossification, Multiple glomerular cysts, Limb unde... ORPHA:1505
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Corneal opacity, Large for gestational age, Microcornea ORPHA:2432
Adult Neuronal Ceroid Lipofuscinosis
Spasticity, Abnormal pyramidal sign, Clumsiness, Abnormality of extrapyramidal motor function, My... ORPHA:79262
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement
Chorea, Tremor, Hemiballismus, Frequent falls ORPHA:494526
Spinocerebellar Ataxia Type 14
Gait ataxia, Abnormality of the Achilles tendon, Rigidity, Myoclonus, Hyporeflexia of lower limbs... ORPHA:98763
Omenn Syndrome
Alopecia, Hypothyroidism, Aplasia/Hypoplasia of the eyebrow, Thyroiditis, Failure to thrive, Eryt... ORPHA:39041
Inflammatory Skin And Bowel Disease, Neonatal, 1
Perianal erythema, Perioral erythema, Onychogryposis, Otitis externa, Failure to thrive, Pustule,... OMIM:614328
Spinal Muscular Atrophy, Late-Onset, Finkel Type
Tremor, Fasciculations OMIM:182980
Ichthyosis, Congenital, Autosomal Recessive 1
Alopecia, Palmoplantar hyperkeratosis, Parakeratosis, Nail dysplasia, Erythroderma, Sparse hair, ... OMIM:242300
Copper Deficiency, Familial Benign
Curly hair, Decreased circulating copper concentration, Failure to thrive, Early balding, Seborrh... OMIM:121270
Pseudoprogeria Syndrome
Sparse eyebrow, Alopecia, Decreased body weight, Short stature, Absent eyelashes, Failure to thri... ORPHA:2985
Spinocerebellar Ataxia 18
Dysdiadochokinesis, Progressive gait ataxia, Babinski sign, Pes cavus, Dysmetria, Tremor OMIM:607458
Thanatophoric Dysplasia, Glasgow Variant
Hepatosplenomegaly, Cataract, Micromelia OMIM:273680
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Decreased testicular size, Abnormality of the ovary, Hypogonadism ORPHA:1875
Autosomal Dominant Spastic Ataxia Type 1
Spastic ataxia, Spastic gait, Spastic dysarthria, Limb ataxia, Babinski sign, Pes cavus, Spastic ... ORPHA:251282
Alopecia-Intellectual Disability Syndrome
Sparse body hair, Alopecia, Aplasia/Hypoplasia of the eyebrow, Sparse scalp hair, Macrotia, Short... ORPHA:2850
Split-Hand/Foot Malformation With Long Bone Deficiency 1
Patellar aplasia, Hand monodactyly, Absent tibia, Short hallux, Split foot, Split hand, Aplasia o... OMIM:119100
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency
Male pseudohermaphroditism, Adrenogenital syndrome, Ambiguous genitalia, Adrenal hyperplasia OMIM:202110
Albinism, Oculocutaneous, Type Iii
Albinism, Red hair, Partial albinism OMIM:203290
Atypical Pantothenate Kinase-Associated Neurodegeneration
Chorea, Spasticity, Abnormal pyramidal sign, Parkinsonism, Rigidity, Limb dystonia, Clumsiness, U... ORPHA:216873
Acromesomelic Dysplasia 2B
Short phalanx of finger, Deviation of finger, Malaligned carpal bone, Patellar dislocation, Rhizo... OMIM:228900
Renpenning Syndrome
Alopecia, Macrotia, Round ear, Sensorineural hearing impairment, Decreased testicular size, Thin ... ORPHA:3242
Autism Spectrum Disorder Due To Auts2 Deficiency
Short stature, Small for gestational age, Repetitive compulsive behavior, Eczema, Abnormal repeti... ORPHA:352490
Waardenburg Syndrome, Type 2F
Hypopigmentation of the skin, Cafe-au-lait spot, Sensorineural hearing impairment, Premature gray... OMIM:619947
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Toe syndactyly, Aplasia/hypoplasia of the femur, Postaxial hand polydactyly, Talipes equinovarus,... OMIM:228930
Holocarboxylase Synthetase Deficiency
Alopecia, Keratoconjunctivitis, Weight loss, Eczema, Ataxia, Perioral eczema, Hyperammonemia, Gro... ORPHA:79242
Weismann-Netter Syndrome
Anemia, Abnormality of the humerus, Tibial bowing, Femoral bowing, Abnormal morphology of ulna, A... ORPHA:3344
Intellectual Developmental Disorder With Hypertelorism And Distinctive Facies
High anterior hairline, Thin eyebrow, Recurrent hand flapping, Low-set ears, Posteriorly rotated ... OMIM:618147
Parkinson Disease 11, Autosomal Dominant, Susceptibility To
Rigidity, Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Resting ... OMIM:607688
Dystonia 11, Myoclonic
Writer's cramp, Torticollis, Tremor, Myoclonus OMIM:159900
Corneal Dystrophy, Endothelial, X-Linked
Corneal dystrophy, Corneal opacity, Band keratopathy OMIM:300779
Corneal Dystrophy, Posterior Polymorphous, 2
Corneal dystrophy, Corneal opacity OMIM:609140
Cataract 9, Multiple Types
Developmental cataract, Microcornea, Cataract, Iris coloboma, Progressive cataract OMIM:604219
Ichthyosis Prematurity Syndrome
Allergic rhinitis, Alopecia of scalp, Erythroderma, Hyperpigmentation of the skin, Pruritus, Foll... OMIM:608649
Cataract 47
Glycosuria, Cataract, Microcornea OMIM:612018
Megalocornea
Mosaic corneal dystrophy, Megalocornea, Corneal arcus, Iris transillumination defect, Deep anteri... OMIM:309300
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Spasticity, Ankle clonus, Parkinsonism, Babinski sign, Scissor gait, Tremor, Oromandibular dyston... ORPHA:521406
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor
Nephroblastoma, Micrognathia, Enlarged kidney OMIM:618272
Palmoplantar Keratoderma And Congenital Alopecia 1
Alopecia, Palmoplantar erythema, Sparse eyebrow, Leukonychia, Brittle hair, Epidermal hyperkerato... OMIM:104100
Incontinentia Pigmenti
Skin ulcer, Supernumerary nipple, Abnormality of the nail, Hypoplastic fingernail, Abnormal toena... ORPHA:464
Acromesomelic Dysplasia 3
Aplasia of the proximal phalanx of the 2nd finger, Broad foot, Short phalanx of finger, Limb unde... OMIM:609441
Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive
Alopecia, Atopic dermatitis, Osteomyelitis, Chronic oral candidiasis, Bronchiectasis, Recurrent s... OMIM:618282
Pili Torti
Alopecia, Abnormal eyebrow morphology, Pili torti, Brittle hair, Abnormality of the nail, Abnorma... ORPHA:2889
Netherton Syndrome
Sparse eyebrow, Sparse scalp hair, Brittle hair, Allergic rhinitis, Brittle scalp hair, Parakerat... OMIM:256500
Lichen Planopilaris
Alopecia, Hepatitis, Skin ulcer, Pterygium, Hypopigmented skin patches, Abnormal fingernail morph... ORPHA:525
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Adrenocorticotropic hormone excess, Decreased circulating aldosterone level, Decreased circulatin... ORPHA:90793
Spinocerebellar Ataxia Type 12
Poor fine motor coordination, Abnormal pyramidal sign, Tremor by anatomical site, Postural tremor... ORPHA:98762
Galactosemia Iv
Cataract OMIM:618881
Split-Hand With Congenital Nystagmus, Fundal Changes, And Cataracts
Split foot, Cataract, Split hand, Hand monodactyly OMIM:183800
Parkinson Disease 2, Autosomal Recessive Juvenile
Parkinsonism, Rigidity, Tremor, Dystonia, Bradykinesia OMIM:600116
Keratoderma Hereditarium Mutilans
Alopecia, Sensorineural hearing impairment, Honeycomb palmoplantar hyperkeratosis, Abnormality of... ORPHA:494
Autosomal Recessive Cutis Laxa Type 2A
Inability to walk, Excessive wrinkled skin, Ataxia, Abnormal cornea morphology, Corneal opacity, ... ORPHA:357058
Woolly Hair
Sparse body hair, Abnormal pupil morphology, Sparse lateral eyebrow, Brittle hair, Fine hair, Woo... ORPHA:170
Foxg1 Syndrome
Decreased body weight, Inability to walk, Stereotypical hand wringing, Short stature, Choreoathet... ORPHA:561854
Dwarfism With Stiff Joints And Ocular Abnormalities
Short phalanx of finger, Short lower limbs, Delayed ossification of carpal bones, Lower limb unde... OMIM:127200
Piebald Trait-Neurologic Defects Syndrome
Irregular hyperpigmentation, Abnormal eyebrow morphology, Sensorineural hearing impairment, Ataxi... ORPHA:2885
Ectodermal Dysplasia 4, Hair/Nail Type
Sparse body hair, Alopecia, Pili torti, Brittle hair, Absent eyelashes, Temporal hypotrichosis, O... OMIM:602032
Hereditary Sensory And Autonomic Neuropathy Type 1
Osteomyelitis, Gait imbalance, Inability to walk, Skin ulcer, Impaired distal tactile sensation, ... ORPHA:36386
Rhizomelic Chondrodysplasia Punctata
Sparse body hair, Alopecia, Rhizomelia, Short stature, Cataract, Growth delay, Dry skin ORPHA:177
Monilethrix
Abnormal eyebrow morphology, Brittle hair, Fine hair, Abnormality of the nail, Cataract, Abnormal... ORPHA:573
Epilepsy, Progressive Myoclonic 7
Myoclonus, Tremor, Ataxia OMIM:616187
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Postural tremor, Rigidity, Myoclonus, Parkinsonism with favorable response to dopaminergic medica... ORPHA:314632
Slc35A2-Cdg
Short tibia, Camptodactyly of finger, Hip subluxation, Precocious puberty, Coxa valga, Abnormal l... ORPHA:356961
Crandall Syndrome
Sparse body hair, Alopecia, Aplasia/Hypoplasia of the eyebrow, Sensorineural hearing impairment, ... ORPHA:202
Hurler-Scheie Syndrome
Rhinitis, Sensorineural hearing impairment, Short stature, Corneal opacity, Generalized hirsutism ORPHA:93476
Spastic Paraplegia 6, Autosomal Dominant
Spastic gait, Babinski sign, Pes cavus, Spastic paraplegia, Tremor, Lower limb spasticity, Clonus OMIM:600363
Mucolipidosis Type Iii
Hearing abnormality, Corneal opacity, Short stature, Acne ORPHA:577
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Hypothyroidism, Chronic oral candidiasis, Thyroiditis, Alopecia universalis, Eczema, Scaling skin... OMIM:606367
Laurin-Sandrow Syndrome
Triphalangeal thumb, Aplasia/Hypoplasia of the thumb, Preaxial hand polydactyly, Limb duplication... ORPHA:2378
Hypoalphalipoproteinemia, Primary, 2
Cataract, Corneal arcus OMIM:618463
Orofaciodigital Syndrome Iv
Short tibia, Toe syndactyly, Micrognathia, Foot polydactyly, Short finger, Hand polydactyly, Clin... OMIM:258860
Metaphyseal Dysplasia, Braun-Tinschert Type
Broad tibial metaphyses, Broad femoral head, Fibular bowing, Exostoses of the radius, Increased u... ORPHA:85188
Alopecia-Contractures-Dwarfism Mental Retardation Syndrome
Alopecia, Severe postnatal growth retardation, Severe short stature, Large fleshy ears OMIM:203550
Cortisone Reductase Deficiency 1
Alopecia, Obesity, Hirsutism, Acne OMIM:604931
Mesomelic Dysplasia, Savarirayan Type
Metatarsus valgus, Broad tibial metaphyses, Flared radial metaphysis, Hip dislocation, Narrow ili... ORPHA:85170
Short Syndrome
Abnormal pupil morphology, Alopecia, Megalocornea, Sensorineural hearing impairment, Posterior em... ORPHA:3163
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Alopecia, Paresthesia, Hypokalemia, Cachexia, Nail dysplasia, Cataract, Xerostomia, Hyperpigmenta... OMIM:175500
Acrodermatitis Enteropathica
Conjunctivitis, Alopecia, Abnormal eyebrow morphology, Corneal erosion, Weight loss, Short statur... ORPHA:37
Classic Phenylketonuria
Lack of skin elasticity, Hypopigmentation of the skin, Hyperphenylalaninemia, Eczema, Hypopigment... ORPHA:79254
Bilateral Striopallidodentate Calcinosis
Corneal opacity, Intrauterine growth retardation ORPHA:1980
Corticobasal Syndrome
Limb myoclonus, Speech apraxia, Parkinsonism, Limb dystonia, Limb apraxia, Myoclonus, Tremor, Inv... ORPHA:454887
Encephalopathy, Progressive, With Or Without Lipodystrophy
Spasticity, Abnormal pyramidal sign, Myoclonus, Ataxia, Tetraparesis, Tremor, Dystonia OMIM:615924
Primary Dystonia, Dyt2 Type
Blepharospasm, Limb dystonia, Torticollis, Torsion dystonia, Tremor, Involuntary movements, Gener... ORPHA:99657
Spondyloperipheral Dysplasia-Short Ulna Syndrome
Flattened femoral head, Hip dysplasia, Abnormal hip joint morphology, Irregular epiphyses, Hypopl... ORPHA:1856
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Adrenogenital syndrome, Hypospadias, Adrenal hyperplasia OMIM:201910
Neuroectodermal Melanolysosomal Disease
Hypopigmentation of the skin, Premature graying of hair, Generalized hyperpigmentation, Ataxia, H... ORPHA:33445
Pachyonychia Congenita
Alopecia, Angular cheilitis, Ear pain, Palmoplantar hyperhidrosis, Fingernail dysplasia, Failure ... ORPHA:2309
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Low-set, posteriorly rotated ears, Corneal opacity, Short stature, Intrauterine growth retardation ORPHA:2370
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency
Ambiguous genitalia, Absent scrotum, Elevated circulating 17-hydroxyprogesterone concentration, S... OMIM:201810
Johnson Neuroectodermal Syndrome
Alopecia, Hypohidrosis, Conductive hearing impairment, Microtia, Absent eyelashes, Failure to thr... ORPHA:2316
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome
Hypothyroidism, Hypoplastic helices, Frontal upsweep of hair, Abnormality of the ear, Decreased s... ORPHA:391372
Autoimmune Polyendocrinopathy Type 1
Alopecia, Decreased circulating aldosterone level, Increased circulating cortisol level, Chronic ... ORPHA:3453
Dystonia 13, Torsion, Autosomal Dominant
Blepharospasm, Writer's cramp, Limb dystonia, Torticollis, Torsion dystonia, Tremor, Oromandibula... OMIM:607671
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Eczema, Scaling skin, Nail dysplasia, Subungual hyperkeratosis, Erythroderma, Recurrent skin infe... OMIM:308205
Dystonia 28, Childhood-Onset
Retrocollis, Spasticity, Torticollis, Myoclonus, Tremor, Craniofacial dystonia, Laryngeal dystoni... OMIM:617284
Eiken Syndrome
Short phalanx of finger, Broad foot, Short toe, Metaphyseal irregularity, Abnormal fingertip morp... ORPHA:79106
Multiple Epiphyseal Dysplasia, Beighton Type
Pedal edema, Genu valgum, Reduced proximal interphalangeal joint space, Coxa vara, Short femoral ... ORPHA:166011
Waardenburg Syndrome, Type 2B
White forelock, Heterochromia iridis, Sensorineural hearing impairment, Premature graying of hair OMIM:600193
Nicolaides-Baraitser Syndrome
Alopecia, Abnormal testis morphology, Long eyelashes, Eczema, Severe short stature, Abnormal hair... ORPHA:3051
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome
Genu valgum, Hypoplasia of penis, Hypospadias, Cataract, Aplasia/Hypoplasia of the lens ORPHA:1381
Prolidase Deficiency
Crusting erythematous dermatitis, Skin ulcer, Abnormality of retinal pigmentation, Abnormality of... ORPHA:742
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Urethral atresia, Enlarged kidney, Hand polydactyly, Proximal placement of thumb, Absent radius, ... OMIM:314390
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form
Corneal erosion, Glomerulonephritis, Palmoplantar keratoderma, Delayed puberty, Growth delay, Gas... ORPHA:79408
Cdkl5-Deficiency Disorder
Stereotypical hand wringing, Synophrys, Gait disturbance, Impaired pain sensation, Difficulty wal... ORPHA:505652
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Knee flexion contracture, Tapered toe, Tapered finger, Renal dysplasia, Abnormal foot morphology,... OMIM:608836
Trichohepatoenteric Syndrome 2
Trichorrhexis nodosa, Brittle hair, Small for gestational age, Decreased serum iron, Woolly hair,... OMIM:614602
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency
Alopecia, Hypothyroidism, Postural tremor, Iridocyclitis, Truncal ataxia, Pancreatitis, Limb atax... ORPHA:412057
Autosomal Recessive Palmoplantar Keratoderma And Congenital Alopecia
Lack of skin elasticity, Alopecia totalis, Cataract, Palmoplantar keratoderma, Nail dystrophy ORPHA:1366
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques
Alopecia, Sensorineural hearing impairment, Palmoplantar hyperhidrosis, Anhidrosis, Skin ulcer, A... ORPHA:659
Multiple Carboxylase Deficiency
Alopecia, Skin rash, Ataxia, Hyperammonemia, Hearing impairment ORPHA:148
Incontinentia Pigmenti
Breast aplasia, Supernumerary nipple, Nail dysplasia, Coarse hair, Sparse hair, Alopecia, Uveitis... OMIM:308300
Cronkhite-Canada Syndrome
Sparse body hair, Alopecia, Dystrophic toenail, Aplasia/Hypoplasia of the eyebrow, Hypoplastic to... ORPHA:2930
Spinocerebellar Ataxia 34
Gait ataxia, Dysdiadochokinesis, Limb ataxia, Epidermal hyperkeratosis, Ataxia, Erythroderma, Int... OMIM:133190
Obesity Due To Prohormone Convertase I Deficiency
Pituitary hypothyroidism, Childhood-onset truncal obesity, Hypopigmentation of the skin, Decrease... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Pituitary hypothyroidism, Childhood-onset truncal obesity, Hypopigmentation of the skin, Decrease... ORPHA:71526
Femoral-Facial Syndrome
Aplasia/Hypoplasia of the tibia, Coxa vara, Renal hypoplasia/aplasia, Micrognathia, Hip dysplasia... ORPHA:1988
Basal Ganglia Calcification, Idiopathic, 1
Chorea, Abnormal pyramidal sign, Dysdiadochokinesis, Parkinsonism, Rigidity, Tremor, Limb dysmetr... OMIM:213600
Biotinidase Deficiency
Conjunctivitis, Alopecia, Sensorineural hearing impairment, Skin rash, Ataxia, Hyperammonemia, Re... OMIM:253260
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset
Gait ataxia, Abnormal pyramidal sign, Dysdiadochokinesis, Oculomotor apraxia, Limb ataxia, Ataxia... OMIM:617145
Keratoderma Hereditarium Mutilans With Ichthyosis
Alopecia, Sensorineural hearing impairment, Orthokeratosis, Palmoplantar hyperkeratosis, Honeycom... ORPHA:79395
Hepatic Adenomas, Familial
Polycystic ovaries, Maturity-onset diabetes of the young OMIM:142330
Ichthyosis, Congenital, Autosomal Recessive 6
Hypohidrosis, Orthokeratosis, Parakeratosis, Scaling skin, Hyperkeratosis, Erythroderma, Palmopla... OMIM:612281
Spondyloepiphyseal Dysplasia, Kondo-Fu Type
Macrotia, Decreased body weight, Short stature, Small for gestational age, Cataract, Posteriorly ... OMIM:618392
Anterior Segment Dysgenesis 8
Iris transillumination defect, Persistent pupillary membrane, Hypoplasia of the iris, Uveal ectro... OMIM:617319
Parkinsonism-Dystonia 1, Infantile-Onset
Chorea, Abnormal pyramidal sign, Parkinsonism, Rigidity, Limb dystonia, Oculogyric crisis, Tremor... OMIM:613135
Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness
Short phalanx of finger, Genu valgum, Coxa valga, Epiphyseal dysplasia, Cataract, Brachydactyly OMIM:132450
Chilblain Lupus
Pruritis on hand, Malar rash, Inflammatory abnormality of the skin, Discoid lupus rash, Skin rash... ORPHA:90280
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Large for gestational age, Bruxism ORPHA:356996
Progressive Supranuclear Palsy-Corticobasal Syndrome
Limb myoclonus, Abnormal pyramidal sign, Rigidity, Limb apraxia, Apraxia, Parkinsonism with favor... ORPHA:240103
Epilepsy, Familial Adult Myoclonic, 4
Myoclonus, Tremor OMIM:615127
Cataract 11, Multiple Types
Cataract, Developmental cataract OMIM:610623
Chorea, Remitting, With Nystagmus And Cataract
Cataract OMIM:601372
Dermoids Of Cornea
Corneal opacity OMIM:304730
Monilethrix
Alopecia, Brittle hair, Nail dysplasia, Abnormality of hair texture, Sparse hair, Nail dystrophy,... OMIM:158000
Microphthalmia With Limb Anomalies
Short tibia, Toe syndactyly, Micrognathia, Hip dislocation, Postaxial hand polydactyly, Talipes e... ORPHA:1106
Yemenite Deaf-Blind Hypopigmentation Syndrome
Patchy hypo- and hyperpigmentation, Microcornea, Numerous pigmented freckles, White forelock, Iri... OMIM:601706
Christianson Syndrome
Gait ataxia, Macrotia, Truncal ataxia, Cachexia, Abnormal repetitive mannerisms, Thick eyebrow, D... ORPHA:85278
Johnson Neuroectodermal Syndrome
Alopecia, Hypohidrosis, Conductive hearing impairment, Short stature, Microtia, Absent eyelashes,... OMIM:147770
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy
Alopecia, Ridged nail, Nail dystrophy, Nail pits OMIM:601705
Ichthyosis, Congenital, Autosomal Recessive 2
Alopecia, Hypohidrosis, Small nail, Anhidrosis, Thin nail, Hyperkeratosis, Erythema, Growth delay... OMIM:242100
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Alopecia, Hypothyroidism, Hepatitis, Arthritis, Eczema, Failure to thrive, Glomerulonephritis, Er... OMIM:304790
Spinocerebellar Ataxia Type 37
Dysdiadochokinesis, Truncal ataxia, Myoclonus, Tremor, Cogwheel rigidity, Limb dysmetria ORPHA:363710
Mucous Membrane Pemphigoid
Corneal opacity ORPHA:46486
Upper Limb Defect-Eye And Ear Abnormalities Syndrome
Short thumb, Cataract, Short metacarpal ORPHA:2489
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Hypopigmentation of the skin, Short stature, Albinism, Pallor, Hypopigmentation of hair ORPHA:2786
Lysinuric Protein Intolerance
Tubulointerstitial nephritis, Hyperalaninemia, Hyperglycinemia, Decreased response to growth horm... ORPHA:470
Alopecia-Intellectual Disability Syndrome 4
Alopecia, Bilateral cryptorchidism, Erythroderma OMIM:618840
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Short phalanx of finger, Aplasia/hypoplasia of the femur, Micrognathia, Flared iliac wing, Toe sy... OMIM:609945
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2
Short foot, Small hand, Dysdiadochokinesis, Truncal ataxia, Dysmetria, Tremor, Short palm OMIM:610185
Congenital Disorder Of Glycosylation, Type If
Ataxia, Scaling skin, Failure to thrive, Erythroderma, Hyperkeratosis, Dry skin OMIM:609180
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Hypopigmentation of hair, Partial albinism, Short stature ORPHA:90023
Familial Hyperaldosteronism Type Ii
Glucocortocoid-insensitive primary hyperaldosteronism, Abnormal circulating renin, Adrenal hyperp... ORPHA:404
Phenylketonuria
Generalized hypopigmentation, Fair hair, Hyperphenylalaninemia, Eczema, Maternal hyperphenylalani... OMIM:261600
Ectodermal Dysplasia-Syndactyly Syndrome 1
Alopecia, Hypoplastic toenails, Small nail, Sparse scalp hair, Pili torti, Absent facial hair, Pa... OMIM:613573
Microphthalmia, Isolated, With Coloboma 3
Iris coloboma, Cataract OMIM:610092
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Pigmentary retinopathy, Alopecia, Hypothyroidism, Atrophic gastritis, Tympanosclerosis, Chronic o... OMIM:240300
Trichothiodystrophy
Tiger tail banding, Keratoconjunctivitis sicca, Eczema, Bilateral sensorineural hearing impairmen... ORPHA:33364
Parkinson Disease 22, Autosomal Dominant
Bradykinesia, Tremor, Resting tremor OMIM:616710
Systemic Lupus Erythematosus 17
Chorea, Alopecia, Malar rash, Myelitis, Optic neuritis OMIM:301080
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Ambiguous genitalia, Decreased circulating dehydroepiandrosterone-sulfate concentration, Humerora... ORPHA:95699
Ectodermal Dysplasia 15, Hypohidrotic/Hair Type
Sparse body hair, Hypohidrosis, Sparse scalp hair, Eczema, Palmoplantar keratoderma, Sparse eyela... OMIM:618535
Chilblain Lupus 1
Chilblains, Skin ulcer, Abnormality of the nail OMIM:610448
Glaucoma 3, Primary Congenital, D
Primary congenital glaucoma, Corneal opacity, Ectopia lentis OMIM:613086
Congenital Lethal Erythroderma
Failure to thrive, Dry skin, Congenital exfoliative erythroderma, Hypoalbuminemia ORPHA:1954
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Multiple small medullary renal cysts, Enlarged kidney, Polycystic kidney dysplasia, Absence of re... OMIM:263200
Microtriplication 11Q24.1
Short stature, Synophrys, Bruxism, Long eyelashes, Obesity, Hyperlipidemia, Attached earlobe, Ker... ORPHA:289522
Dermatitis, Atopic
Facial erythema, Conjunctivitis, Allergic rhinitis, Eczema, Pallor, Cataract, Dry skin, Recurrent... OMIM:603165
Skin Fragility-Woolly Hair Syndrome
Sparse eyebrow, Palmoplantar erythema, Alopecia, Palmoplantar hyperkeratosis, Woolly hair, Palmop... OMIM:607655
Hypotrichosis Simplex Of The Scalp
Abnormal eyebrow morphology, Sparse scalp hair, Abnormality of the pubic hair, Pruritus, Allergic... ORPHA:90368
Endocrine-Cerebroosteodysplasia
Microphallus, Fibular bowing, Micrognathia, Enlarged kidney, Hitchhiker thumb, Brachydactyly, Syn... OMIM:612651
Microcephalic Osteodysplastic Dysplasia, Saul-Wilson Type
Small hand, Hypoplasia of the odontoid process, Cone-shaped epiphyses of the phalanges of the han... ORPHA:85172
Stuve-Wiedemann Syndrome 1
Short tibia, Short phalanx of finger, Micrognathia, Metaphyseal rarefaction, Camptodactyly, Hypop... OMIM:601559
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Adrenocorticotropic hormone excess, Decreased circulating aldosterone level, Ambiguous genitalia,... ORPHA:90791
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type
Short stature, Hirsutism, Bruxism OMIM:300434
Cutis Laxa, Autosomal Dominant 3
Cutis laxa, Premature skin wrinkling, Developmental cataract, Corneal opacity, Low-set ears, Intr... OMIM:616603
Ophthalmomandibulomelic Dysplasia
Megalocornea, Coxa valga, Radial bowing, Lateral humeral condyle aplasia, Mesomelia, Opacificatio... OMIM:164900
4Q21 Microdeletion Syndrome
Synophrys, Long eyelashes, Abnormal repetitive mannerisms, Tremor, Growth delay, Intrauterine gro... ORPHA:238750
Congenital Heart Defect-Round Face-Developmental Delay Syndrome
Hypopigmentation of hair, Short stature, Generalized hyperpigmentation ORPHA:1355
Hereditary Mucoepithelial Dysplasia
Alopecia, Corneal dystrophy, Fine hair, Cataract, Hyperkeratosis, Sparse hair ORPHA:1839
Hypohidrotic Ectodermal Dysplasia
Irregular hyperpigmentation, Aplasia/Hypoplasia of the eyebrow, Trichorrhexis nodosa, Hypohidrosi... ORPHA:238468
Aniridia And Absent Patella
Cataract, Aplasia/Hypoplasia of the patella, Aniridia OMIM:106220
Genetic Hyperferritinemia Without Iron Overload
Abnormal serum iron concentration, Cataract, Increased circulating ferritin concentration, Fragil... ORPHA:254704
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Gait ataxia, Short stature, Recurrent hand flapping, Hand tremor, Broad-based gait OMIM:617862
Mucoepithelial Dysplasia, Hereditary
Alopecia, Chronic monilial nail infection, Keratoconjunctivitis, Corneal neovascularization, Chro... OMIM:158310
Sialidosis Type 2
Short stature, Ataxia, Tremor, Corneal opacity, Hearing impairment ORPHA:87876
Autosomal Dominant Polycystic Kidney Disease
Recurrent urinary tract infections, Stage 5 chronic kidney disease, Enlarged kidney, Pyelonephrit... ORPHA:730
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome
Abnormal antihelix morphology, Alopecia, Hypohidrosis, Macrotia, Moderate postnatal growth retard... ORPHA:1005
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Adrenogenital syndrome, Increased serum testosterone level, Decreased circulating aldosterone lev... OMIM:202010
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Broad long bone diaphyses, Rhizomelia, Stage 5 chronic kidney disease, Short iliac bones, Pes val... OMIM:614376
Acheiropodia
Aplasia of the ulna, Upper limb phocomelia, Absent radius, Abnormal metaphysis morphology, Abnorm... ORPHA:931
Gomez-Lopez-Hernandez Syndrome
Alopecia, Decreased response to growth hormone stimulation test, Short stature, Ataxia, Low-set e... OMIM:601853
Severe Intellectual Disability And Progressive Spastic Paraplegia
Short stature, Abnormal repetitive mannerisms, Overweight, Difficulty walking, Dystonia, Waddling... ORPHA:280763
Chanarin-Dorfman Syndrome
Alopecia, Sensorineural hearing impairment, Microtia, Ataxia, Subcapsular cataract OMIM:275630
Baralle-Macken Syndrome
Striae distensae, Cafe-au-lait spot, Inability to walk, Cataract, Hirsutism, Obesity, Dystonia OMIM:619255
Hyperphenylalaninemia, Bh4-Deficient, C
Myoclonus, Choreoathetosis, Tremor, Hypertonia, Dystonia OMIM:261630
Glut1 Deficiency Syndrome 2
Hemolytic anemia, Choreoathetosis, Ataxia, Reticulocytosis, Tremor, Dystonia, Splenomegaly OMIM:612126
Hypomelanosis Of Ito
Alopecia, Iris coloboma, Macular hypopigmented whorls, streaks, and patches, Cataract OMIM:300337
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome
Polycystic ovaries, Precocious puberty, Aplasia of the phalanges of the 3rd toe, Hypergonadotropi... ORPHA:2229
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Nephroblastoma, Multicystic kidney dysplasia, Bifid ureter, Tibial torsion, Renal malrotation, En... ORPHA:500095
Diaphanospondylodysostosis
Micrognathia, Enlarged kidney, Missing ribs, Narrow pelvis bone, Cystic renal dysplasia, Nephroge... OMIM:608022
Waardenburg Syndrome Type 2
Sensorineural hearing impairment, Premature graying of hair, Hypopigmented skin patches, White fo... ORPHA:895
Bresek Syndrome
Alopecia, Decreased testicular size, Iris coloboma, Growth delay, Cryptorchidism, Intrauterine gr... ORPHA:85284
Exfoliation Syndrome
Phakodonesis, Pigment deposition in the trabecular meshwork, Mydriasis, Iris hypoperfusion, Lens ... OMIM:177650
Renal-Hepatic-Pancreatic Dysplasia 2
Enlarged kidney, Cystic renal dysplasia, Femoral bowing, Hepatomegaly, Talipes equinovarus OMIM:615415
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Inability to walk, Synophrys, Long eyelashes, Abnormal repetitive mannerisms, Large earlobe, Prom... ORPHA:411986
Congenital Rubella Syndrome
Sensorineural hearing impairment, Short stature, Aplasia/Hypoplasia of the iris, Skin rash, Abnor... ORPHA:290
Albinism, Oculocutaneous, Type Iv
Albinism, Hypopigmentation of hair, Blue irides OMIM:606574
Griscelli Syndrome, Type 2
Silver-gray hair, Accumulation of melanosomes in melanocytes, Hypopigmentation of the skin, Melan... OMIM:607624
Epilepsy, Familial Adult Myoclonic, 5
Myoclonus, Tremor OMIM:615400
Fraxe Intellectual Disability
Short stature, Recurrent hand flapping, Compulsive behaviors, Prominent ear helix, Stereotypical ... ORPHA:100973
Senior-Loken Syndrome
Stage 5 chronic kidney disease, Cataract, Nephronophthisis, Cone-shaped epiphysis, Chronic kidney... ORPHA:3156
Immunodeficiency, Common Variable, 12, With Autoimmunity
Alopecia, Atrophic gastritis, Pyoderma gangrenosum, Bronchiectasis, Recurrent sinusitis, Recurren... OMIM:616576
Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement
Blepharospasm, Limb dystonia, Torticollis, Myoclonus, Hand tremor, Upper limb postural tremor, Or... ORPHA:420485
Rapp-Hodgkin Syndrome
Sparse eyebrow, Hypohidrosis, Small nail, Short stature, Supernumerary nipple, Fine hair, Onychog... OMIM:129400
Juvenile Sialidosis Type 2
Generalized hypertrichosis, Ataxia, Cataract, Dysmetria, Loss of ambulation, Corneal opacity, Low... ORPHA:93399
Woolly Hair Nevus
Curly hair, Patchy hypopigmentation of hair, Enlarged vestibular aqueduct, Congenital posterior o... ORPHA:79414
Proliferating Trichilemmal Cyst
Skin ulcer, Sparse scalp hair ORPHA:492
Dilution, Pigmentary
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation OMIM:126070
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Testicular atrophy, Tremor, Fasciculations, Calf muscle hypertrophy OMIM:313200
Chronic Actinic Dermatitis
Late onset atopic dermatitis, Allergic rhinitis, Progressive hyperpigmentation, Eczema, Hypopigme... ORPHA:330064
Mietens Syndrome
Coxa valga, Avascular necrosis of the capital femoral epiphysis, Coxa vara, Hypoplasia of the rad... ORPHA:2557
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Gait ataxia, Abnormality of extrapyramidal motor function, Myoclonus, Ataxia, Babinski sign, Tremor OMIM:615362
Squalene Synthase Deficiency
Decreased LDL cholesterol concentration, Macrotia, Abnormality of hair pigmentation, Bilateral cr... OMIM:618156
Bjornstad Syndrome
Alopecia, Dry hair, Sensorineural hearing impairment, Pili torti, Brittle hair, Anhidrosis, Coars... OMIM:262000
Parkinson Disease 17
Resting tremor, Parkinsonism, Rigidity, Tremor, Bradykinesia OMIM:614203
Porphyria Cutanea Tarda
Onycholysis, Alopecia, Hyperpigmentation in sun-exposed areas, Facial hypertrichosis OMIM:176100
Kid Syndrome
Prelingual sensorineural hearing impairment, Corneal erosion, Acne inversa, Keratoconjunctivitis ... ORPHA:477
Waardenburg Syndrome, Type 4A
Sensorineural hearing impairment, Premature graying of hair, White eyelashes, White eyebrow, Atax... OMIM:277580
Insensitivity To Pain, Congenital, With Anhidrosis
Sparse scalp hair, Osteomyelitis, Corneal scarring, Opacification of the corneal stroma, Anhidros... OMIM:256800
Bent Bone Dysplasia Syndrome 2
Short tibia, Short sternum, Hypoplastic iliac wing, Hypoplastic acetabulae, Short 1st metacarpal,... OMIM:620076
Cystinosis
Hypothyroidism, Short stature, Hypophosphatemia, Hypokalemia, Gait disturbance, Abnormal repetiti... ORPHA:213
Tyrosinemia Type 2
Hyperhidrosis, Abnormality of the nail, Ataxia, Tremor, Corneal opacity, Hyperkeratosis, Palmopla... ORPHA:28378
Familial Hyperaldosteronism Type I
Secretory adrenocortical adenoma, Abnormal circulating renin, Dexamethasone-suppressible primary ... ORPHA:403
Multiple Epiphyseal Dysplasia, Lowry Type
Knee flexion contracture, Genu valgum, Rhizomelia, Micrognathia, Fragmented epiphyses, Epiphyseal... ORPHA:166016
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Enlarged kidney, Enlarged polycystic ovaries ORPHA:90301
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Macroorchidism, Small hand, Spastic tetraplegia, Spastic gait, Resting tremor, Micrognathia, Park... OMIM:300055
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Hyperthyroidism, Increased circulating T4 concentration, Decreased thyroid-stimulating hormone le... OMIM:613239
Alport Syndrome 2, Autosomal Recessive
Glomerular basement membrane lamellation, Corneal erosion, Nephrotic syndrome, Stage 5 chronic ki... OMIM:203780
Dystonia 24
Blepharospasm, Torticollis, Head tremor, Oromandibular dystonia, Limb tremor, Arm dystonia OMIM:615034
Congenital Anomalies Of Kidney And Urinary Tract 3
Vesicoureteral reflux, Multicystic kidney dysplasia, Ectopic kidney, Renal hypoplasia, Hydronephr... OMIM:618270
Congenital Disorder Of Glycosylation, Type Iq
Abnormality of skin pigmentation, Cutis laxa, Eczema, Failure to thrive, Cataract, Dry skin, Low-... OMIM:612379
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Sensorineural hearing impairment, Posterior embryotoxon, Cataract, Iris coloboma, Corneal opacity ORPHA:1473
Transketolase Deficiency
Conjunctivitis, Uveitis, Compulsive behaviors, Abnormal repetitive mannerisms, Cataract, Elevated... ORPHA:488618
Morquio Syndrome C
Severe short stature, Corneal opacity OMIM:252300
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism
Cataract OMIM:254000
Tetragametic Chimerism
Abnormality of the scrotum, Ambiguous genitalia, Abnormal testis morphology, Bifid scrotum, Perin... ORPHA:199310
2Q23.1 Microdeletion Syndrome
Short stature, Synophrys, Abnormal repetitive mannerisms, Ataxia, Growth delay, Highly arched eye... ORPHA:228402
Isolated Agammaglobulinemia
Short stature, Skin rash, Inflammatory abnormality of the eye, Skin ulcer, Arthritis, Failure to ... ORPHA:229717
Hemiparkinsonism-Hemiatrophy Syndrome
Parkinsonism, Hemiparesis, Hemiatrophy, Tremor, Dystonia, Bradykinesia ORPHA:306669
Craniosynostosis With Fibular Aplasia
Fibular aplasia, Cryptorchidism OMIM:218550
Sialidosis Type 1
Sensorineural hearing impairment, Short stature, Gait disturbance, Ataxia, Cataract, Tremor, Corn... ORPHA:812
Familial Benign Copper Deficiency
Early balding, Decreased circulating copper concentration, Short stature, Acne ORPHA:1551
Robin Sequence With Cleft Mandible And Limb Anomalies
Short tibia, Short phalanx of finger, Hip subluxation, Mesomelic leg shortening, Short 5th finger... OMIM:268305
Lopes-Maciel-Rodan Syndrome
Spasticity, Ankle clonus, Abnormal pyramidal sign, Small hand, Tremor, Hypertonia, Short foot, Dy... OMIM:617435
Reticular Dysgenesis
Weight loss, Skin rash, Skin ulcer, Failure to thrive, Hearing impairment, Chronic otitis media ORPHA:33355
Smith-Magenis Syndrome
Hypothyroidism, Hypertriglyceridemia, Conductive hearing impairment, Short stature, Synophrys, Ga... ORPHA:819
Pachydermoperiostosis
Hyperhidrosis, Osteomyelitis, Arthritis, Abnormal fingernail morphology, Abnormal hair quantity, ... ORPHA:2796
Spinocerebellar Ataxia 7
Chorea, Spasticity, Abnormality of extrapyramidal motor function, Babinski sign, Dysmetria, Tremo... OMIM:164500
Congenital Sialidosis Type 2
Petechiae, Generalized hypertrichosis, Developmental cataract, Ataxia, Cataract, Dysmetria, Corne... ORPHA:93400
Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome
Sparse eyebrow, Cutis laxa, Absent axillary hair, Scaling skin, Alopecia of scalp, Absent pubic h... ORPHA:2269
Alpha-Heavy Chain Disease