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
small thymus Slc30a4em1(IMPC)Tcp HOM Late adult 0.00
short tibia Slc30a4em1(IMPC)Tcp HOM Late adult 6.21×10-07
increased grip strength Slc30a4em1(IMPC)Tcp HOM Late adult 6.08×10-06
tremors Slc30a4em1(IMPC)Tcp HOM   Late adult 7.59×10-06
enlarged kidney Slc30a4em1(IMPC)Tcp HOM Early adult 0.00
abnormal ovary morphology Slc30a4em1(IMPC)Tcp HOM Late adult 0.00
short tibia Slc30a4em1(IMPC)Tcp HOM Early adult 4.65×10-13
abnormal skin morphology Slc30a4em1(IMPC)Tcp HOM Early adult 0.00
decreased grip strength Slc30a4em1(IMPC)Tcp HOM Early adult 1.58×10-05
small adrenal glands Slc30a4em1(IMPC)Tcp HOM Late adult 0.00
cataract Slc30a4em1(IMPC)Tcp HOM Early adult 2.70×10-05

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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 Slit Lamp

123 Images

Gross Pathology and Tissue Collection

Images

9 Images

Eye Morphology

Images Ophthalmoscopy

147 Images

Eye Morphology

Images Ophthalmoscopy

92 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

Histopathology

Images

11 Images

Gross Pathology and Tissue Collection

Images

8 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

Eye Morphology

Images Slit Lamp

9 Images

X-ray

XRay Images 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
1-5 finger syndactyly, Toe syndactyly, Camptodactyly of finger, 6 metacarpals, Hand polydactyly, ... ORPHA:93405
Optic Atrophy 2
Tremor, Dysdiadochokinesis, Babinski sign, Absent Achilles reflex OMIM:311050
Erythrokeratodermia Variabilis
Alopecia, Cataract, Skin rash, Short stature, Hypermelanotic macule, Corneal opacity, Abnormal ha... ORPHA:317
Polycystic Kidney Disease 5
Stage 5 chronic kidney disease, Hepatosplenomegaly, Polycystic kidney dysplasia, Reduced renal co... OMIM:617610
Acromesomelic Dysplasia 2C
Hypoplasia of the ulna, Shortening of all middle phalanges of the fingers, Radial bowing, Cuboida... OMIM:201250
Congenital Ichthyosiform Erythroderma
Alopecia, Short stature, Keratitis, Pruritus, Corneal erosion, Hypohidrosis, Palmoplantar keratod... ORPHA:79394
Acromesomelic Dysplasia 2A
Hypoplasia of the ulna, Short humerus, Short femur, Aplasia/Hypoplasia of the patella, Postaxial ... OMIM:200700
Episodic Ataxia, Type 1
Incoordination, Tremor, Babinski sign, Slurred speech, Episodic ataxia, Spastic gait OMIM:160120
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Micromelia, Epiphyseal stippling, Short long bone, Short 3rd metacarpal, Limb undergrowth, Short ... OMIM:118651
Osebold-Remondini Syndrome
Dysplastic distal radial epiphyses, Broad toe, Hypoplasia of the ulna, Tarsal synostosis, Type A ... OMIM:112910
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3
Tremor, Slurred speech, Ataxia, Cerebellar ataxia associated with quadrupedal gait OMIM:613227
Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis
Tremor, Spastic paraplegia, Pes cavus, Palmoplantar hyperkeratosis OMIM:309560
Acromesomelic Dysplasia, Grebe Type
Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Brachydactyly, Tarsal synostosis, Micr... ORPHA:2098
Primary Orthostatic Tremor
Tremor, Abnormality of extrapyramidal motor function ORPHA:238606
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Perianal erythema, Short stature, Ataxia, Tremor, Paronychia, Dry skin, Decreased serum zinc, Alo... OMIM:201100
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome
Syndactyly, Hand oligodactyly, Tibial bowing, Foot oligodactyly, Short tibia, Fibular aplasia OMIM:246570
Cataract 35
Cataract OMIM:609376
Cataract 36
Cataract OMIM:613887
Hereditary Hyperferritinemia-Cataract Syndrome
Cataract ORPHA:163
Cataract 29
Cataract OMIM:115800
Langer Mesomelic Dysplasia
Hypoplasia of the ulna, Radial bowing, Micrognathia, Hypoplasia of the radius, Short femoral neck... OMIM:249700
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly
Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication OMIM:188740
Fibular Hemimelia
Bowing of the legs, Structural foot deformity, Tibial bowing, Increased laxity of ankles, Foot ol... ORPHA:93323
Hypertrophic Neuropathy And Cataract
Cataract OMIM:239900
Endove Syndrome, Limb-Only Type
Short middle phalanx of the 2nd finger, Fibular hypoplasia, Disproportionate shortening of the ti... OMIM:619217
Primary Dystonia, Dyt27 Type
Axial dystonia, Writer's cramp, Upper limb postural tremor, Focal dystonia, Limb dystonia, Oroman... ORPHA:464440
Acheiropody
Carpal bone aplasia, Short humerus, Peromelia, Aplasia of the phalanges of the hand, Aplasia of t... OMIM:200500
Graham Little-Piccardi-Lassueur Syndrome
Sparse scalp hair, Alopecia, Sparse axillary hair, Pruritus, Sparse pubic hair, Perifollicular hy... ORPHA:505
Dystonia 27
Torticollis, Postural tremor, Writer's cramp, Limb dystonia, Oromandibular dystonia, Laryngeal dy... OMIM:616411
Leri-Weill Dyschondrosteosis
Hypoplasia of the ulna, Radial bowing, Abnormal femoral neck morphology, Dorsal subluxation of ul... OMIM:127300
Hidrotic Ectodermal Dysplasia
Slow-growing nails, Palmoplantar hyperkeratosis, Absent pubic hair, Sparse hair, Hyperkeratotic p... ORPHA:189
Cataract And Congenital Ichthyosis
Cataract OMIM:212400
Congenital Megacalycosis
Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne... ORPHA:93109
Spinocerebellar Ataxia Type 15/16
Ataxia, Upper limb postural tremor, Gait ataxia, Head tremor, Tremor by anatomical site, Action t... ORPHA:98769
Tremor, Hereditary Essential, 6
Postural tremor, Kinetic tremor, Head tremor, Vocal tremor OMIM:618866
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness
Short thumb, Cataract OMIM:274205
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development
Hypoplasia of the ulna, Short femur, Absent thumb, Cryptorchidism, Fibular hypoplasia, Aplasia/Hy... OMIM:612447
Tremor, Hereditary Essential, 5
Kinetic tremor, Tongue tremor, Postural tremor, Intention tremor OMIM:616736
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive
Keratoconus, Alopecia, Decreased circulating ceruloplasmin concentration, Decreased circulating c... OMIM:242150
Intellectual Developmental Disorder With Poor Growth And With Or Without Seizures Or Ataxia
Aggressive behavior, Developmental cataract, Increased LDL cholesterol concentration, Gait ataxia... OMIM:618808
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type
Short tibia, Hypoplasia of the radius, Pseudoarthrosis OMIM:156230
Zinc Deficiency, Transient Neonatal
Decreased serum zinc, Alopecia, Eczema OMIM:608118
Episodic Ataxia With Slurred Speech
Tremor, Slurred speech, Gait ataxia ORPHA:401953
Lethal Faciocardiomelic Dysplasia
Microretrognathia, Hypoplasia of the ulna, Sandal gap, Radial club hand, Short thumb, Hypoplasia ... ORPHA:1972
Gómez-López-Hernández Syndrome
Short stature, Ataxia, Corneal opacity, Impaired pain sensation, Low-set ears, Alopecia of scalp,... ORPHA:1532
Odonto-Onycho Dysplasia-Alopecia Syndrome
Alopecia, Abnormal fingernail morphology, Sparse eyebrow, Hypoplastic toenails, Palmoplantar kera... ORPHA:2722
Ichthyosis, Hystrix-Like, With Deafness
Sparse scalp hair, Sparse eyelashes, Absent eyelashes, Scarring alopecia of scalp, Sensorineural ... OMIM:602540
Léri-Weill Dyschondrosteosis
Micromelia, Abnormal tibia morphology, Abnormal carpal morphology, Abnormal femur morphology, Tib... ORPHA:240
Bardet-Biedl Syndrome 18
Renal insufficiency, Cataract, Stage 5 chronic kidney disease, Brachydactyly OMIM:615995
Spastic Paraparesis And Deafness
Tremor, Hypogonadism, Spastic paraparesis OMIM:312910
Spinocerebellar Ataxia 43
Ataxia, Tremor, Rigidity, Limb ataxia, Gait ataxia, Pes cavus OMIM:617018
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Recurrent skin infections, Decreased serum iron, Corneal erosion, Dysphagia, Growth delay, Decrea... ORPHA:89842
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome
Alopecia, Small for gestational age, Decreased response to growth hormone stimulation test, Ataxi... ORPHA:3363
Disordered Steroidogenesis Due To Cytochrome P450 Oxidoreductase Deficiency
Ambiguous genitalia, Congenital adrenal hyperplasia, Increased circulating ACTH level OMIM:613571
Kerion Celsi
Alopecia, Recurrent cutaneous abscess formation, Inflammatory abnormality of the skin, Recurrent ... ORPHA:499
Alpha-N-Acetylgalactosaminidase Deficiency Type 3
Hepatomegaly, Cataract ORPHA:79281
Gollop-Wolfgang Complex
Hand monodactyly, Bifid femur, Aplasia/Hypoplasia of the ulna, Ectrodactyly, Aplasia/Hypoplasia o... ORPHA:1986
Leukoencephalopathy, Brain Calcifications, And Cysts
Ataxia, Tremor, Abnormal pyramidal sign, Abnormality of extrapyramidal motor function, Dystonia, ... OMIM:614561
Immunodeficiency, Common Variable, 6
Hepatomegaly, Glomerulonephritis, Stage 5 chronic kidney disease, Mesangial Immune complex deposi... OMIM:613496
Oliver-Mcfarlane Syndrome
Alopecia, Severe short stature, Small for gestational age, Decreased response to growth hormone s... OMIM:275400
Primary Dystonia, Dyt13 Type
Torticollis, Generalized dystonia, Postural tremor, Involuntary movements, Dystonia, Torsion dyst... ORPHA:98807
Mesomelic Dysplasia, Savarirayan Type
Abnormal foot morphology, Talipes equinovalgus, Hip dislocation, Mesomelia, Short tibia, Dislocat... OMIM:605274
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7
Tremor, Pes cavus, Vocal cord paresis, Vocal cord paralysis OMIM:158580
L-Ferritin Deficiency
Decreased circulating ferritin concentration, Restless legs, Alopecia OMIM:615604
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis
Alopecia, Cataract, Sparse eyelashes, Elevated circulating creatine kinase concentration, Sparse ... OMIM:615704
Corneal Dystrophy, Groenouw Type I
Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy, Granular corneal dystrophy OMIM:121900
Slc39A8-Cdg
Failure to thrive in infancy, Abnormal blood zinc concentration, Short stature, Inability to walk... ORPHA:468699
Acrocapitofemoral Dysplasia
Micromelia, Short proximal phalanx of thumb, Coxa vara, Hypoplastic iliac wing, Short palm, Short... OMIM:607778
Dystonia 3, Torsion, X-Linked
Tremor, Chorea, Torsion dystonia, Myoclonus, Parkinsonism with favorable response to dopaminergic... OMIM:314250
Spinocerebellar Ataxia 20
Postural tremor, Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Palatal tremor, Action tremor OMIM:608687
Tremor, Hereditary Essential, 1
Postural tremor, Hand tremor, Action tremor OMIM:190300
Bathing Suit Ichthyosis
Alopecia, Parakeratosis, Impaired temperature sensation, Palmoplantar hyperkeratosis, Hypohidrosi... ORPHA:100976
Flynn-Aird Syndrome
Alopecia, Cataract, Ataxia, Hyperkeratosis, Progressive sensorineural hearing impairment, Alopeci... OMIM:136300
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
Sparse scalp hair, Abnormal eyelash morphology, Melanocytic nevus, Periodontitis, Sparse body hai... ORPHA:1008
Parkinson Disease 15, Autosomal Recessive Early-Onset
Lower limb spasticity, Parkinsonism, Tremor, Rigidity, Babinski sign, Scissor gait, Bradykinesia,... OMIM:260300
Hypotrichosis Simplex
Sparse scalp hair, Alopecia, Sparse eyelashes, Sparse eyebrow, Sparse hair, Sparse body hair ORPHA:55654
Perifolliculitis Capitis Abscedens Et Suffodiens, Familial
Alopecia, Perifolliculitis, Alopecia of scalp OMIM:260910
Alopecia Areata 1
Trachyonychia, Alopecia totalis, Nail pits, Patchy alopecia, Alopecia universalis OMIM:104000
Ectodermal Dysplasia-Blindness Syndrome
Cataract, Abnormal fingernail morphology, Short stature, Corneal dystrophy, Sclerocornea, Skin ul... ORPHA:1806
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss
Tremor, Abnormal foot morphology, Decreased patellar reflex, Absent patellar reflexes OMIM:614369
Hypotrichosis 4
Sparse scalp hair, Alopecia, Sparse eyelashes, Sparse eyebrow, Uncombable hair, Sparse body hair OMIM:146550
Alopecia Universalis Congenita
Absent eyebrow, Absent eyelashes, Absent pubic hair, Absent axillary hair, Alopecia universalis OMIM:203655
Lipoid Congenital Adrenal Hyperplasia
Hypospadias, Congenital adrenal hyperplasia, Adrenogenital syndrome OMIM:201710
Tietz Syndrome
Hypopigmentation of hair, White eyebrow, Abnormality of skin pigmentation, Abnormal anterior cham... ORPHA:42665
Spinal Muscular Atrophy, Jokela Type
Pes planus, Tremor, Calf muscle hypertrophy, Hammertoe, Fasciculations, Pes cavus OMIM:615048
Cataract 42
Cataract, Developmental cataract OMIM:115900
Alopecia Areata 2
Alopecia of scalp, Patchy alopecia, Alopecia totalis, Alopecia universalis OMIM:610753
Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy
Alopecia, Diffuse palmoplantar hyperkeratosis, Onychogryposis of toenails, Alopecia of scalp, Hyp... OMIM:617294
Trichothiodystrophy 1, Photosensitive
Brittle hair, Protruding ear, Microcornea, Sparse hair, Tiger tail banding, Trichoschisis, Short ... OMIM:601675
Dyskinesia With Orofacial Involvement, Autosomal Recessive
Tremor, Myoclonus, Dystonia, Frequent falls, Hypothyroidism OMIM:619647
Segawa Syndrome, Autosomal Recessive
Parkinsonism, Tremor, Rigidity, Gait ataxia, Abnormality of extrapyramidal motor function, Myoclo... OMIM:605407
Olmsted Syndrome 1
Subungual hyperkeratosis, Parakeratosis, Corneal opacity, Pruritus, Hyperparakeratosis, Periorifi... OMIM:614594
Moynahan Syndrome
Alopecia, Short stature, Cachexia, Sensorineural hearing impairment, Hyperkeratosis, Sparse hair ORPHA:2574
Candidiasis, Familial, 1
Alopecia, Chronic mucocutaneous candidiasis OMIM:114580
Neutropenia, Severe Congenital, 9, Autosomal Dominant
Splenomegaly, Cataract, 3-Methylglutaconic aciduria OMIM:619813
Palmoplantar Keratoderma And Congenital Alopecia 2
Alopecia totalis, Palmoplantar hyperkeratosis, Facial erythema, Developmental cataract, Hyperkera... OMIM:212360
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Tremor, Spasticity, Babinski sign, Ataxia OMIM:611105
Pili Torti-Onychodysplasia Syndrome
Absent eyebrow, Alopecia, Brittle hair, Abnormal pinna morphology, Eczema, Congenital onychodystr... ORPHA:2890
Hypotrichosis 11
Sparse or absent eyelashes, Alopecia universalis, Absent axillary hair, Sparse hair, Aplasia/Hypo... OMIM:615059
Lamellar Ichthyosis
Short stature, Pruritus, Lack of skin elasticity, Hyperkeratosis, Sparse hair, Abnormal helix mor... ORPHA:313
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay
Tremor, Ataxia OMIM:213000
Spinocerebellar Degeneration-Corneal Dystrophy Syndrome
Progressive cerebellar ataxia, Ataxia, Corneal dystrophy, Corneal opacity ORPHA:3177
Dystonia, Dopa-Responsive
Resting tremor, Torticollis, Incoordination, Postural tremor, Writer's cramp, Babinski sign, Park... OMIM:128230
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Ataxia, Parkinsonism, Tremor, Rigidity, Chorea, Myoclonus, Dystonia, Upper motor neuron dysfunction ORPHA:401901
X-Linked Dominant Chondrodysplasia Punctata
Cataract, Abnormal pinna morphology, Sparse eyelashes, Abnormal hair pattern, Short stature, Spar... ORPHA:35173
Myoclonus, Familial, 1
Ataxia, Myoclonus, Action myoclonus, Frequent falls, Action tremor OMIM:614937
Spinocerebellar Ataxia 40
Ataxia, Tremor, Dysmetria, Gait ataxia, Ankle clonus, Dysdiadochokinesis, Spastic paraparesis, In... OMIM:616053
Spastic Paraparesis-Deafness Syndrome
Cataract, Short stature, Ataxia, Impaired pain sensation, Sensorineural hearing impairment, Gait ... ORPHA:2815
Tibial Hemimelia
Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Knee flexion contracture, Increased... ORPHA:93322
Ichthyosis With Confetti
Short stature, Pruritus, Erythroderma, Palmoplantar hyperkeratosis, Hypoplastic nipples, Scaling ... OMIM:609165
Nephronophthisis 16
Renal insufficiency, Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Nephronophthisi... OMIM:615382
Alopecia Universalis
Absent eyelashes, Absent eyebrow, Patchy alopecia, Alopecia universalis ORPHA:701
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome
Alopecia, Severe short stature, Hyperpigmentation of the skin, Hypopigmented skin patches, Protru... ORPHA:2251
Laurin-Sandrow Syndrome
Syndactyly, Absent radius, Patellar aplasia, Short foot, Hand polydactyly, Triphalangeal thumb, B... OMIM:135750
Classic Mycosis Fungoides
Alopecia, Skin rash, Eczema, Pruritus, Erythema, Hypopigmented skin patches, Skin ulcer, Hyperker... ORPHA:2584
Spinocerebellar Ataxia, Autosomal Recessive 16
Tremor, Babinski sign, Limb ataxia, Ankle clonus, Hypogonadism, Truncal ataxia, Spasticity OMIM:615768
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Hypoplasia of the ulna, Short digit, Metaphyseal spurs, Postaxial polydactyly, Metaphyseal wideni... OMIM:613091
Clouston Syndrome
Alopecia, Brittle hair, Sparse eyelashes, Alopecia totalis, Slow-growing hair, Short stature, Spa... OMIM:129500
Sandhoff Disease, Adult Form
Tremor, Focal dystonia, Gait ataxia, Fasciculations, Dystonia, Spasticity ORPHA:309169
Peeling Skin Syndrome 1
Brittle hair, Short stature, Pruritus, Onycholysis, Palmoplantar hyperhidrosis, Nail dystrophy, E... OMIM:270300
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Torticollis, Ataxia, Tremor, Chorea, Hyperkinetic movements, Dystonia OMIM:618425
Epidermolysis Bullosa Simplex With Mottled Pigmentation
Alopecia, Plantar hyperkeratosis, Mixed hypo- and hyperpigmentation of the skin, Hypermelanotic m... ORPHA:79397
Ectodermal Dysplasia 6, Hair/Nail Type
Sparse hair, Alopecia, Thin toenail, Dystrophic toenail OMIM:614928
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Small for gestational age, Conjugated hyperbilirubinemia, Postnatal growth retardation, Sensorine... OMIM:617093
Thumb Deformity And Alopecia
Alopecia, Short stature, Increased groin pigmentation with raindrop depigmentation OMIM:188150
Aldh18A1-Related De Barsy Syndrome
Cataract ORPHA:35664
Absence Deformity Of Leg-Cataract Syndrome
Cataract, Abnormality of the lower limb, Abnormal femur morphology, Abnormal epiphysis morphology... ORPHA:2310
Flynn-Aird Syndrome
Alopecia, Cataract, Ataxia, Cachexia, Impaired pain sensation, Primary adrenal insufficiency, Ski... ORPHA:2047
Ichthyosis, Congenital, Autosomal Recessive 11
Curly hair, Brittle hair, Sparse eyelashes, Corneal opacity, Curly eyelashes, Pruritus, Sparse ey... OMIM:602400
Hepatorenocardiac Degenerative Fibrosis
Renal cyst, Hepatosplenomegaly, Tubular luminal dilatation, Renal interstitial fibrosis, Reduced ... OMIM:619902
Orofaciodigital Syndrome Type 10
Radial deviation of the hand, Duplication of thumb phalanx, Tarsal synostosis, Micrognathia, Shor... ORPHA:2756
Spinocerebellar Ataxia, Autosomal Recessive 4
Torticollis, Ataxia, Tremor, Babinski sign, Abnormal pyramidal sign, Gait ataxia, Myoclonus, Fasc... OMIM:607317
Dystonia 11, Myoclonic
Tremor, Torticollis, Writer's cramp, Myoclonus OMIM:159900
Spinocerebellar Ataxia Type 20
Isometric tremor, Ataxia, Kinetic tremor, Upper limb postural tremor, Abnormal pyramidal sign, Ga... ORPHA:101110
N-Acetylaspartate Deficiency
Broad-based gait, Short stature, Unsteady gait, Truncal ataxia, Decreased body weight, Abnormal r... OMIM:614063
Winchester Syndrome
Corneal opacity, Hirsutism OMIM:277950
X-Linked Intellectual Disability, Stocco Dos Santos Type
Hyperactivity, Cataract, Short stature, Small for gestational age, Hirsutism ORPHA:85288
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia
Sparse scalp hair, Alopecia, Abnormal fingernail morphology, Ectopia lentis, Hypoplastic toenails... ORPHA:2325
Parkinsonism With Spasticity, X-Linked
Resting tremor, Parkinsonism, Babinski sign, Cogwheel rigidity, Bradykinesia, Spasticity OMIM:300911
Tibial Aplasia-Ectrodactyly Syndrome
Finger syndactyly, Short femur, Preaxial hand polydactyly, Postaxial hand polydactyly, Split hand... ORPHA:3329
Corneal Dystrophy-Perceptive Deafness Syndrome
Sensorineural hearing impairment, Corneal opacity, Corneal dystrophy ORPHA:1490
Parkinsonism-Dystonia 1, Infantile-Onset
Dystonia, Parkinsonism, Oculogyric crisis, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Cog... OMIM:613135
Bullous Dystrophy, Hereditary Macular Type
Severe short stature, Hyperpigmentation of the skin, Alopecia totalis, Abnormality of the nail OMIM:302000
Chromosome 17P13.3, Telomeric, Duplication Syndrome
Contracture of the proximal interphalangeal joint of the 3rd finger, Short metacarpal, Brachydact... OMIM:612576
Galactosemia Ii
Cataract, Galactosuria OMIM:230200
Familial Reactive Perforating Collagenosis
Perifolliculitis, Inflammatory abnormality of the skin, Abnormal pinna morphology, Maculopapular ... ORPHA:79147
Spinocerebellar Ataxia Type 31
Tremor, Spasticity, Gait ataxia ORPHA:217012
Trichomegaly
Cataract OMIM:190330
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia
Alopecia, Abnormal fingernail morphology, Abnormal hair morphology, Hypohidrosis, Fine hair, Abno... ORPHA:248
Alopecia Totalis
Alopecia, Alopecia of scalp ORPHA:700
Dyskinesia, Limb And Orofacial, Infantile-Onset
Tremor, Chorea, Hyperkinetic movements, Hemiballismus, Frequent falls OMIM:616921
X-Linked Agammaglobulinemia
Recurrent cutaneous abscess formation, Alopecia, Sinusitis, Osteomyelitis, Skin rash, Short statu... ORPHA:47
Cataract-Microcornea Syndrome
Cataract, Corneal opacity, Corneal dystrophy, Microcornea, Iris coloboma ORPHA:1377
Blount Disease
Abnormality of the knee, Abnormality of the proximal tibial epiphysis, Abnormal tibial metaphysis... ORPHA:2768
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Alopecia, Cataract, Corneal opacity, Hypopigmentation of hair, Aplasia/Hypoplasia of the iris, Pe... ORPHA:1067
Phenylketonuria
Maternal hyperphenylalaninemia, Hyperactivity, Cataract, Eczema, Aggressive behavior, Hyperphenyl... OMIM:261600
Alopecia-Intellectual Disability Syndrome 1
Alopecia, Alopecia universalis OMIM:203650
Gonadoblastoma
Gonadal dysgenesis with female appearance, male, Gonadal calcification, Dysgerminoma, Increased s... ORPHA:206484
Growth Delay-Intellectual Disability-Hepatopathy Syndrome
Sensorineural hearing impairment, Growth delay, Decreased serum zinc, Esophagitis, Intrauterine g... ORPHA:541423
Pigmented Nodular Adrenocortical Disease, Primary, 3
Increased circulating cortisol level, Adrenal hyperplasia OMIM:614190
Parc Syndrome
Absent eyelashes, Absent eyebrow, Alopecia OMIM:600331
Intellectual Developmental Disorder, X-Linked, Syndromic, Armfield Type
Short foot, Abnormal hand morphology, Cataract, Small hand OMIM:300261
Spinocerebellar Ataxia 37
Tremor, Frequent falls, Ataxia OMIM:615945
Alopecia, Congenital
Sparse hair, Alopecia OMIM:300042
Griscelli Syndrome, Type 1
Accumulation of melanosomes in melanocytes, White eyelashes, White eyebrow, Silver-gray hair, Lar... OMIM:214450
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant
Alopecia, Cataract, Sparse eyelashes, Keratitis, Scarring alopecia of scalp, Sparse eyebrow, Faci... OMIM:612843
Tremor, Hereditary Essential, 4
Postural tremor, Action tremor OMIM:614782
Griscelli Syndrome, Type 3
Silver-gray hair, Large clumps of pigment irregularly distributed along hair shaft, White eyelashes OMIM:609227
Satoyoshi Syndrome
Abnormality of the knee, Tapered finger, Nephrogenic diabetes insipidus, Abnormality of the humer... ORPHA:3130
Chromosome 3Q29 Deletion Syndrome
Hyperactivity, Failure to thrive, Posteriorly rotated ears, Small for gestational age, Aggressive... OMIM:609425
Epidermolysis Bullosa Simplex 5D, Generalized Intermediate, Autosomal Recessive
Pruritus, Alopecia, Plantar hyperkeratosis, Nail dystrophy OMIM:616487
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Broad-based gait, Short stature, Hand tremor, Gait ataxia, Dysphagia, Recurrent hand flapping, Ab... OMIM:617862
Orofaciodigital Syndrome Viii
Syndactyly, Short tibia, Polydactyly OMIM:300484
Renal Dysplasia
Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure... ORPHA:93108
Quinquaud Folliculitis Decalvans
Recurrent skin infections, Pustule, Scarring alopecia of scalp, Abnormal hair morphology, Erythem... ORPHA:346
Galactosialidosis
Corneal opacity, Hearing impairment ORPHA:351
Meckel Syndrome, Type 8
Polydactyly, Talipes equinovarus, Polycystic kidney dysplasia, Hyperechogenic kidneys, Enlarged k... OMIM:613885
Sézary Syndrome
Alopecia, Pruritus, Tremor, Palmoplantar keratoderma, Nail dystrophy, Erythroderma, Irregular hyp... ORPHA:3162
Rhizomelic Chondrodysplasia Punctata, Type 1
Alopecia, Severe short stature, Rhizomelia, Sensorineural hearing impairment, Elevated circulatin... OMIM:215100
Hereditary Bullous Dystrophy, Macular Type
Alopecia, Cataract, Congenital abnormal hair pattern, Pneumonia, Short stature, Corneal opacity, ... ORPHA:1867
Nephronophthisis 2
Absence of renal corticomedullary differentiation, Stage 5 chronic kidney disease, Chronic tubulo... OMIM:602088
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Splenomegaly, Hepatomegaly, Enlarged kidney OMIM:615285
Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome
Sparse scalp hair, Alopecia, Short stature, Sparse eyebrow, Hypothyroidism, Fine hair, Hypohidros... ORPHA:1882
Aa Amyloidosis
Hepatomegaly, Proteinuria, Abnormality of the kidney, Chronic kidney disease, Nephrotic syndrome,... ORPHA:85445
Hyperaldosteronism, Familial, Type I
Adrenal hyperplasia, Hyperaldosteronism, Adrenogenital syndrome, Decreased circulating renin level OMIM:103900
Classic Phenylketonuria
Hypopigmentation of hair, Cataract, Eczema, Tremor, Lack of skin elasticity, Growth delay, Self-i... ORPHA:79254
Spastic Ataxia 2, Autosomal Recessive
Spastic ataxia, Torticollis, Tremor, Head titubation, Babinski sign, Dysmetria, Gait ataxia, Ankl... OMIM:611302
Holocarboxylase Synthetase Deficiency
Alopecia, Ataxia, Eczema, Anorexia, Hyperammonemia, Keratoconjunctivitis, Weight loss, Growth del... ORPHA:79242
Netherton Syndrome
Sparse scalp hair, Skin rash, Eczema, Sparse eyelashes, Short stature, Sparse eyebrow, Abnormal h... ORPHA:634
Parkinson Disease 13, Autosomal Dominant, Susceptibility To
Tremor, Parkinsonism with favorable response to dopaminergic medication, Rigidity, Bradykinesia OMIM:610297
Keratoderma Hereditarium Mutilans
Alopecia, Sensorineural hearing impairment, Honeycomb palmoplantar hyperkeratosis, Self-injurious... ORPHA:494
Chromosome 15Q11-Q13 Duplication Syndrome
Restrictive behavior, Unsteady gait, Truncal ataxia, Abnormal repetitive mannerisms, Inflexible a... OMIM:608636
Epilepsy, Progressive Myoclonic, 1B
Ataxia, Tremor, Babinski sign, Dysmetria, Myoclonus OMIM:612437
Spondyloepimetaphyseal Dysplasia, Missouri Type
Knee osteoarthritis, Flared metaphysis, Flattened epiphysis, Tibial bowing, Femoral bowing, Small... ORPHA:93356
Hyperzincemia With Functional Zinc Depletion
Increased serum zinc, Skin rash OMIM:601979
Trichodysplasia-Xeroderma Syndrome
Sparse scalp hair, Alopecia, Brittle hair, Sparse eyebrow, Sparse body hair, Coarse hair, Trichod... ORPHA:3361
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Psoriasiform dermatitis, Recurrent skin infections, Eosinophilic infiltration of the esophagus, A... OMIM:615508
Pityriasis Rubra Pilaris
Subungual hyperkeratosis, Eczema, Pruritus, Pustule, Palmoplantar keratoderma, Erythroderma, Irre... ORPHA:2897
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay
Cataract, Developmental cataract OMIM:613076
Chondrodysplasia Punctata 2, X-Linked Dominant
Cataract, Abnormal pinna morphology, Sparse eyelashes, Rhizomelia, Sparse eyebrow, Postnatal grow... OMIM:302960
Severe Combined Immunodeficiency Due To Foxn1 Deficiency
Ridged nail, Nail pits, Congenital alopecia totalis ORPHA:169095
Cataract-Nephropathy-Encephalopathy Syndrome
Renal tubular dysfunction, Cataract ORPHA:1380
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome
Aplasia/Hypoplasia of the thumb, Patellar aplasia, Abnormal fibula morphology, Aplasia/Hypoplasia... ORPHA:988
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome
Fused labia minora, Micrognathia, Ambiguous genitalia, female, Deformed humerus, Abnormality of t... ORPHA:2975
Autosomal Dominant Epidermolytic Ichthyosis
Skin ulcer, Weight loss, Hyperkeratosis, Palmoplantar keratoderma, Erythroderma, Conjunctival ham... ORPHA:312
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Tremor, Kinetic tremor OMIM:611808
Acrofacial Dysostosis Syndrome Of Rodriguez
11 pairs of ribs, Overlapping toe, Micrognathia, Fibular hypoplasia, Talipes equinovarus, Triphal... OMIM:201170
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly
Aplasia of the ulna, Split hand, Bifid femur, Hand monodactyly, Absent tibia, Foot monodactyly OMIM:228250
Alopecia-Intellectual Disability-Hypergonadotropic Hypogonadism Syndrome
Alopecia totalis ORPHA:1014
Netherton Syndrome
Sparse scalp hair, Parakeratosis, Brittle hair, Recurrent skin infections, Allergic rhinitis, Ecz... OMIM:256500
Hyperphenylalaninemia, Bh4-Deficient, D
Tremor, Hypertonia OMIM:264070
Alopecia, Familial Focal
Patchy alopecia OMIM:104110
Alopecia-Intellectual Disability Syndrome 3
Alopecia universalis OMIM:613930
Alopecia-Intellectual Disability Syndrome 2
Alopecia universalis OMIM:610422
Alopecia, Androgenetic, 1
Alopecia OMIM:109200
Spinocerebellar Ataxia 38
Ataxia, Tremor, Limb ataxia, Gait ataxia, Myoclonus OMIM:615957
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Microcornea, Corneal opacity, Large for gestational age ORPHA:2432
Omenn Syndrome
Alopecia, Pneumonia, Pruritus, Thyroiditis, Dry skin, Erythroderma, Failure to thrive, Hypothyroi... ORPHA:39041
Spinocerebellar Ataxia Type 14
Tremor, Rigidity, Limb ataxia, Gait ataxia, Progressive cerebellar ataxia, Myoclonus, Hyporeflexi... ORPHA:98763
Ichthyosis, Congenital, Autosomal Recessive 1
Alopecia, Parakeratosis, Palmoplantar hyperkeratosis, Nail dystrophy, Nail dysplasia, Erythroderm... OMIM:242300
Acrodermatitis Enteropathica
Ridged nail, Abnormal eyebrow morphology, Alopecia, Short stature, Anorexia, Pustule, Paronychia,... ORPHA:37
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Alopecia, Cataract, Cachexia, Anorexia, Xerostomia, Hypokalemia, Paresthesia, Hypocalcemia, Nail ... OMIM:175500
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement
Tremor, Chorea, Frequent falls, Hemiballismus ORPHA:494526
Incontinentia Pigmenti
Uveitis, Hyperhidrosis, Abnormality of skin pigmentation, Abnormal toenail morphology, Infectious... ORPHA:464
Spinal Muscular Atrophy, Late-Onset, Finkel Type
Tremor, Fasciculations OMIM:182980
Inflammatory Skin And Bowel Disease, Neonatal, 1
Perianal erythema, Pustule, Paronychia, Otitis externa, Perioral erythema, Erythroderma, Failure ... OMIM:614328
Pseudoprogeria Syndrome
Absent eyebrow, Alopecia, Short stature, Absent eyelashes, Sparse eyebrow, Growth delay, Decrease... ORPHA:2985
Copper Deficiency, Familial Benign
Curly hair, Decreased circulating copper concentration, Seborrheic dermatitis, Early balding, Fai... OMIM:121270
Spinocerebellar Ataxia 18
Tremor, Babinski sign, Dysmetria, Dysdiadochokinesis, Progressive gait ataxia, Pes cavus OMIM:607458
Split-Hand/Foot Malformation With Long Bone Deficiency 1
Short hallux, Aplasia of the 3rd finger, Patellar aplasia, Split hand, Hand monodactyly, Split fo... OMIM:119100
Intellectual Developmental Disorder, Autosomal Recessive 58
Short stature, Aggressive behavior, Pica, Choreoathetosis, Self-injurious behavior, Abnormal repe... OMIM:617270
Adult Neuronal Ceroid Lipofuscinosis
Ataxia, Tremor, Abnormal pyramidal sign, Clumsiness, Abnormality of extrapyramidal motor function... ORPHA:79262
Alopecia-Intellectual Disability Syndrome
Sparse scalp hair, Alopecia, Short stature, Growth delay, Macrotia, Sparse body hair, Aplasia/Hyp... ORPHA:2850
46,Xx Testicular Difference Of Sex Development
Ambiguous genitalia, Male hypogonadism, Decreased testicular size, Polycystic ovaries ORPHA:393
Atypical Pantothenate Kinase-Associated Neurodegeneration
Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Focal dystonia, Clumsiness, Limb... ORPHA:216873
Autosomal Dominant Spastic Ataxia Type 1
Spastic ataxia, Lower limb spasticity, Tremor, Babinski sign, Spastic paraplegia, Limb ataxia, Le... ORPHA:251282
Fibrodysplasia Ossificans Progressiva
Alopecia, Failure to thrive, Hearing impairment ORPHA:337
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity, Abnormal repetitive mannerisms, Short stature OMIM:300271
Renpenning Syndrome
Abnormal hairshaft morphology, Alopecia, Severe short stature, Cataract, Cachexia, Sensorineural ... ORPHA:3242
Acromesomelic Dysplasia 2B
Short metacarpal, Rhizomelia, Deformed tarsal bones, Talipes equinovalgus, Absent toe, Short meta... OMIM:228900
Thanatophoric Dysplasia, Glasgow Variant
Cataract, Micromelia, Hepatosplenomegaly OMIM:273680
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Congenital hip dislocation, Abnormal finger flexion crease, Aplasia/Hypoplasia of the 5th finger,... OMIM:228930
Albinism, Oculocutaneous, Type Iii
Red hair, Partial albinism, Albinism OMIM:203290
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency
Ambiguous genitalia, Male pseudohermaphroditism, Adrenal hyperplasia, Adrenogenital syndrome OMIM:202110
Smith-Magenis syndrome
Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation, Short stature DECIPHER:8
Chromosome 2Q37 Deletion Syndrome
Hyperactivity, Pain insensitivity, Short stature, Eczema, Highly arched eyebrow, Aggressive behav... OMIM:600430
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Hyperactivity, Broad-based gait, Aggressive behavior, Tremor, Small nail, Abnormal repetitive man... OMIM:619470
Ichthyosis Prematurity Syndrome
Allergic rhinitis, Pruritus, Follicular hyperkeratosis, Erythroderma, Alopecia of scalp, Hyperpig... OMIM:608649
Corneal Dystrophy, Endothelial, X-Linked
Corneal opacity, Corneal dystrophy, Band keratopathy OMIM:300779
Weismann-Netter Syndrome
Bowing of the long bones, Abnormal morphology of ulna, Abnormality of the thyroid gland, Abnormal... ORPHA:3344
Waardenburg Syndrome, Type 2F
Hypermelanotic macule, Congenital sensorineural hearing impairment, Sensorineural hearing impairm... OMIM:619947
Alopecia-Intellectual Disability Syndrome 4
Bilateral cryptorchidism, Alopecia, Agitation, Erythroderma OMIM:618840
Parkinson Disease 11, Autosomal Dominant, Susceptibility To
Rigidity, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Bradyk... OMIM:607688
Corneal Dystrophy, Posterior Polymorphous, 2
Corneal opacity, Corneal dystrophy OMIM:609140
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures
Dystonia, Ataxia, Aggressive behavior, Chorea, Falls, Inappropriate laughter, Bruxism, Abnormal r... OMIM:619150
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Hypogonadism, Abnormality of the ovary, Decreased testicular size ORPHA:1875
Cataract 9, Multiple Types
Progressive cataract, Cataract, Developmental cataract, Microcornea, Iris coloboma OMIM:604219
Fraxe Intellectual Disability
Hyperactivity, Short stature, Impulsivity, Aggressive behavior, Prominent ear helix, Stereotypica... ORPHA:100973
Cataract 47
Microcornea, Cataract, Glycosuria OMIM:612018
Asperger Syndrome, Susceptibility To, 1
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines OMIM:608638
Asperger Syndrome, Susceptibility To, 2
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines OMIM:608631
Autism, Susceptibility To, X-Linked 3
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines OMIM:300496
Autism, Susceptibility To, X-Linked 1
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines OMIM:300425
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome
Recurrent skin infections, Decreased serum iron, Overweight, Repetitive compulsive behavior, Abno... ORPHA:391372
Obesity Due To Prohormone Convertase I Deficiency
Hypopigmentation of the skin, Decreased response to growth hormone stimulation test, Gonadotropin... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Hypopigmentation of the skin, Decreased response to growth hormone stimulation test, Gonadotropin... ORPHA:71526
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor
Nephroblastoma, Enlarged kidney, Micrognathia OMIM:618272
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Ataxia, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder OMIM:618709
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Parkinsonism, Tremor, Babinski sign, Scissor gait, Ankle clonus, Bradykinesia, Dystonia, Oromandi... ORPHA:521406
Palmoplantar Keratoderma And Congenital Alopecia 1
Alopecia, Brittle hair, Plantar hyperkeratosis, Epidermal hyperkeratosis, Sparse eyebrow, Leukony... OMIM:104100
Cronkhite-Canada Syndrome
Alopecia, Generalized hyperpigmentation, Abnormal fingernail morphology, Cataract, Anorexia, Cach... ORPHA:2930
Megalocornea
Iridodonesis, Cataract, Mosaic corneal dystrophy, Deep anterior chamber, Iris transillumination d... OMIM:309300
Acromesomelic Dysplasia 3
Short phalanx of finger, Hypoplasia of the ulna, Elevated circulating luteinizing hormone level, ... OMIM:609441
Lichen Planopilaris
Alopecia, Abnormal fingernail morphology, Pruritus, Hepatitis, Skin ulcer, Hypopigmented skin pat... ORPHA:525
Progressive Supranuclear Palsy-Corticobasal Syndrome
Involuntary movements, Limb apraxia, Tremor, Rigidity, Abnormal pyramidal sign, Hand clenching, F... ORPHA:240103
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections
Alopecia, Osteomyelitis, Recurrent skin infections, Eczema, Pruritus, Recurrent pneumonia, Bronch... OMIM:618282
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Hypopigmentation of the skin, Hyperactivity, Hypopigmentation of hair, Ataxia, Broad-based gait, ... ORPHA:411515
Spinocerebellar Ataxia Type 12
Ataxia, Parkinsonism, Postural tremor, Action tremor, Abnormal pyramidal sign, Bradykinesia, Poor... ORPHA:98762
Autism Spectrum Disorder Due To Auts2 Deficiency
Hyperactivity, Small for gestational age, Eczema, Highly arched eyebrow, Short stature, Cryptorch... ORPHA:352490
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Bifid scrotum, Decreased circulating cortisol level, Bilateral cryptorchidism, Blind vagina, Ambi... ORPHA:90793
Parkinson-Dementia Syndrome
Tremor, Abnormal pyramidal sign, Rigidity, Parkinsonism OMIM:260540
Autism
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines OMIM:209850
Autism, Susceptibility To, 8
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines OMIM:607373
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities
Tremor, Ataxia, Bilateral coxa valga, Limb dystonia OMIM:620270
Autosomal Recessive Cutis Laxa Type 2A
Ataxia, Thick hair, Corneal opacity, Postnatal growth retardation, Inability to walk, Excessive w... ORPHA:357058
Parkinson Disease 2, Autosomal Recessive Juvenile
Parkinsonism, Tremor, Rigidity, Bradykinesia, Dystonia OMIM:600116
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2
Short palm, Ataxia, Tremor, Small hand, Dysmetria, Gait ataxia, Short foot, Dysdiadochokinesis, T... OMIM:610185
Hyperprolinemia, Type I
Hyperactivity, Ataxia, Aggressive behavior, Hyperprolinemia, Abnormal repetitive mannerisms OMIM:239500
Split-Hand With Congenital Nystagmus, Fundal Changes, And Cataracts
Split hand, Cataract, Split foot, Hand monodactyly OMIM:183800
Piebald Trait-Neurologic Defects Syndrome
Abnormal eyebrow morphology, Hypopigmentation of hair, Ataxia, Abnormal eyelash morphology, Senso... ORPHA:2885
Gomez-Lopez-Hernandez Syndrome
Hyperactivity, Alopecia, Posteriorly rotated ears, Decreased response to growth hormone stimulati... OMIM:601853
Woolly Hair
Hypopigmentation of hair, Brittle hair, Slow-growing hair, Cataract, Abnormality of hair texture,... ORPHA:170
Rhizomelic Chondrodysplasia Punctata
Alopecia, Cataract, Rhizomelia, Short stature, Growth delay, Dry skin, Sparse body hair ORPHA:177
Galactosemia Iv
Cataract OMIM:618881
Pili Torti
Abnormal eyebrow morphology, Alopecia, Brittle hair, Abnormality of hair texture, Abnormality of ... ORPHA:2889
Monilethrix
Abnormal eyebrow morphology, Brittle hair, Slow-growing hair, Cataract, Abnormal eyelash morpholo... ORPHA:573
Ectodermal Dysplasia 4, Hair/Nail Type
Absent eyebrow, Alopecia, Brittle hair, Absent eyelashes, Onycholysis, Nail dystrophy, Sparse bod... OMIM:602032
Hereditary Sensory And Autonomic Neuropathy Type 1
Pain insensitivity, Osteomyelitis, Impaired temperature sensation, Inability to walk, Penetrating... ORPHA:36386
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Postural tremor, Tremor, Rigidity, Babinski sign, Bradykinesia, Myoclonus, Dystonia, Parkinsonism... ORPHA:314632
Insensitivity To Pain, Congenital, With Anhidrosis
Sparse scalp hair, Hyperactivity, Osteomyelitis, Anhidrosis, Pain insensitivity, Keratitis, Corne... OMIM:256800
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency
Alopecia, Postural tremor, Iridocyclitis, Unsteady gait, Impaired proprioception, Truncal ataxia,... ORPHA:412057
Encephalopathy, Progressive, With Or Without Lipodystrophy
Ataxia, Tremor, Abnormal pyramidal sign, Tetraparesis, Myoclonus, Dystonia, Spasticity OMIM:615924
Epilepsy, Progressive Myoclonic 7
Tremor, Ataxia, Myoclonus OMIM:616187
Intellectual Developmental Disorder With Hypertelorism And Distinctive Facies
Posteriorly rotated ears, Thin eyebrow, Low-set ears, High anterior hairline, Recurrent hand flap... OMIM:618147
Intellectual Developmental Disorder With Autism And Speech Delay
Inability to walk, Abnormal repetitive mannerisms OMIM:606053
Orofaciodigital Syndrome Iv
Toe syndactyly, Postaxial polydactyly, Micrognathia, Hand polydactyly, Foot polydactyly, Short fi... OMIM:258860
Intellectual Developmental Disorder, Autosomal Recessive 39
Hyperactivity, Short stature, Aggressive behavior, Anteverted ears, Synophrys, Macrotia, Abnormal... OMIM:615541
Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination
Failure to thrive, Abnormal repetitive mannerisms, Difficulty walking, Cataract OMIM:617393
Hurler-Scheie Syndrome
Short stature, Corneal opacity, Sensorineural hearing impairment, Rhinitis, Generalized hirsutism ORPHA:93476
Mucolipidosis Type Iii
Hearing abnormality, Acne, Short stature, Corneal opacity ORPHA:577
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form
Recurrent skin infections, Glomerulonephritis, Corneal erosion, Gastrointestinal inflammation, Gr... ORPHA:79408
Crandall Syndrome
Alopecia, Brittle hair, Sensorineural hearing impairment, Fine hair, Sparse body hair, Abnormal t... ORPHA:202
Intellectual Developmental Disorder, Autosomal Dominant 7
Hyperactivity, Abnormal pinna morphology, Small for gestational age, Failure to thrive in infancy... OMIM:614104
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Psoriasiform dermatitis, Failure to thrive in infancy, Eczema, Thyroiditis, Erythroderma, Patchy ... OMIM:606367
Dystonia 28, Childhood-Onset
Torticollis, Tremor, Myoclonus, Retrocollis, Dystonia, Oromandibular dystonia, Spasticity, Laryng... OMIM:617284
Alopecia-Contractures-Dwarfism Mental Retardation Syndrome
Large fleshy ears, Severe postnatal growth retardation, Alopecia, Severe short stature OMIM:203550
Cortisone Reductase Deficiency 1
Alopecia, Acne, Obesity, Hirsutism OMIM:604931
Mesomelic Dysplasia, Savarirayan Type
Broad tibial metaphyses, Bowing of the long bones, Glenoid fossa hypoplasia, Hip dislocation, Hig... ORPHA:85170
Spastic Paraplegia 6, Autosomal Dominant
Lower limb spasticity, Clonus, Tremor, Babinski sign, Spastic paraplegia, Pes cavus, Spastic gait OMIM:600363
Hypoalphalipoproteinemia, Primary, 2
Corneal arcus, Cataract OMIM:618463
Metaphyseal Dysplasia, Braun-Tinschert Type
Broad tibial metaphyses, Tibial bowing, Humerus varus, Exostoses of the ulna, Sclerosis of middle... ORPHA:85188
Foxg1 Syndrome
Dystonia, Short stature, Inability to walk, Bruxism, Choreoathetosis, Severe postnatal growth ret... ORPHA:561854
Pontocerebellar Hypoplasia, Type 11
Decreased body weight, Broad-based gait, Short stature, Ataxia, Inability to walk, Limb ataxia, S... OMIM:617695
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features
Failure to thrive in infancy, Aggressive behavior, Obesity, Self-injurious behavior, Compulsive b... OMIM:613670
Short Syndrome
Alopecia, Severe short stature, Corneal opacity, Posterior embryotoxon, Sensorineural hearing imp... ORPHA:3163
Bilateral Striopallidodentate Calcinosis
Intrauterine growth retardation, Corneal opacity ORPHA:1980
Pachyonychia Congenita
Alopecia, Angular cheilitis, Ear pain, Paronychia, Onychogryposis of toenails, Linear arrays of m... ORPHA:2309
Neuropathy, Hereditary Sensory, Type Iic
Short stature, Impaired distal proprioception, Hypoesthesia, Impaired distal vibration sensation,... OMIM:614213
Primary Dystonia, Dyt2 Type
Torticollis, Generalized dystonia, Involuntary movements, Tremor, Torsion dystonia, Blepharospasm... ORPHA:99657
Lysinuric Protein Intolerance
Hyperalaninemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterole... ORPHA:470
Slc35A2-Cdg
Camptodactyly of finger, Spastic tetraparesis, Coxa valga, Precocious puberty, Metatarsus adductu... ORPHA:356961
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Low-set, posteriorly rotated ears, Intrauterine growth retardation, Short stature, Corneal opacity ORPHA:2370
Neuroectodermal Melanolysosomal Disease
Hypopigmentation of hair, Generalized hyperpigmentation, Ataxia, Tremor, Premature graying of hai... ORPHA:33445
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Adrenal hyperplasia, Hypospadias, Adrenogenital syndrome OMIM:201910
Spondyloperipheral Dysplasia-Short Ulna Syndrome
Hypoplasia of the ulna, Cataract, Broad hallux, Talipes, Short metatarsal, Flattened epiphysis, I... ORPHA:1856
Corticobasal Syndrome
Speech apraxia, Dystonia, Parkinsonism, Limb apraxia, Involuntary movements, Tremor, Oromotor apr... ORPHA:454887
Smith-Magenis Syndrome
Hyperactivity, Hypertriglyceridemia, Short stature, Impaired pain sensation, Synophrys, Self hugg... OMIM:182290
Dystonia 13, Torsion, Autosomal Dominant
Torticollis, Writer's cramp, Tremor, Torsion dystonia, Blepharospasm, Limb dystonia, Oromandibula... OMIM:607671
Johnson Neuroectodermal Syndrome
Absent eyebrow, Alopecia, Severe short stature, Absent eyelashes, Protruding ear, Hypohidrosis, M... ORPHA:2316
Nicolaides-Baraitser Syndrome
Alopecia, Severe short stature, Eczema, Curly eyelashes, Highly arched eyebrow, Abnormal hair pat... ORPHA:3051
Autoimmune Polyendocrinopathy Type 1
Hypoparathyroidism, Alopecia, Adrenal hyperplasia, Abnormal fingernail morphology, Cataract, Prim... ORPHA:3453
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Short humerus, Proximal placement of thumb, Absent radius, Urethral atresia, Hand polydactyly, Hy... OMIM:314390
Eiken Syndrome
Absence of the sacrum, Epiphyseal dysplasia, Abnormal acetabulum morphology, Abnormal fingertip m... ORPHA:79106
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities
Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder OMIM:617787
Ophthalmomandibulomelic Dysplasia
Radial bowing, Coxa valga, Fibular hypoplasia, Lateral humeral condyle aplasia, Opacification of ... OMIM:164900
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Atrichia, Scaling skin, Periungual erythema, Neonatal death, Dystrophic fingernails, Absent eyebr... OMIM:308205
Keratoderma Hereditarium Mutilans With Ichthyosis
Alopecia, Scaling skin on fingertip, Parakeratosis, Sensorineural hearing impairment, Palmoplanta... ORPHA:79395
Multiple Epiphyseal Dysplasia, Beighton Type
Abnormal metacarpophalangeal joint morphology, Abnormality of tibial epiphyses, Cataract, Abnorma... ORPHA:166011
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
Hyperactivity, Short stature, Highly arched eyebrow, Aggressive behavior, Tremor, Sensorineural h... OMIM:618342
Congenital Disorder Of Glycosylation, Type Ig
Short humerus, Short femur, Rhizomelia, Sandal gap, Small scrotum, Hypospadias, Cryptorchidism, H... OMIM:607143
Laurin-Sandrow Syndrome
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Talipes, Tarsal synostosis, A... ORPHA:2378
Ichthyosis, Congenital, Autosomal Recessive 6
Parakeratosis, Hypohidrosis, Hyperkeratosis, Palmoplantar keratoderma, Scaling skin, Erythroderma... OMIM:612281
Waardenburg Syndrome, Type 2B
Premature graying of hair, Sensorineural hearing impairment, White forelock, Heterochromia iridis OMIM:600193
Autosomal Recessive Palmoplantar Keratoderma And Congenital Alopecia
Cataract, Alopecia totalis, Lack of skin elasticity, Palmoplantar keratoderma, Nail dystrophy ORPHA:1366
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency
Bifid scrotum, Adrenal hyperplasia, Hypospadias, Scrotal hypospadias, Cryptorchidism, Male pseudo... OMIM:201810
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Renal dysplasia, Hepatomegaly, Ureteral duplication, Cataract, Renal insufficiency, Long toe, Lon... OMIM:608836
Prolidase Deficiency
Abnormality of retinal pigmentation, Abnormal fingernail morphology, Pruritus, Crusting erythemat... ORPHA:742
Incontinentia Pigmenti
Ridged nail, Uveitis, Abnormality of skin pigmentation, Coarse hair, Pallor, Sparse hair, Atrophi... OMIM:308300
Cdkl5-Deficiency Disorder
Impaired pain sensation, Synophrys, Growth delay, Gait disturbance, Inappropriate laughter, Diffi... ORPHA:505652
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome
Hypoplasia of penis, Aplasia/Hypoplasia of the lens, Cataract, Hypospadias, Genu valgum ORPHA:1381
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques
Anhidrosis, Alopecia, Abnormal fingernail morphology, Sensorineural hearing impairment, Erythema,... ORPHA:659
Trichohepatoenteric Syndrome 2
Brittle hair, Small for gestational age, Decreased serum iron, Chronic hepatitis, Colitis, Uncomb... OMIM:614602
2Q23.1 Microdeletion Syndrome
Hyperactivity, Short stature, Ataxia, Highly arched eyebrow, Cryptorchidism, Synophrys, Paroxysma... ORPHA:228402
Basal Ganglia Calcification, Idiopathic, 1
Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Bradykinesia, Athetosis, Dysdiad... OMIM:213600
Hepatic Adenomas, Familial
Maturity-onset diabetes of the young, Polycystic ovaries OMIM:142330
Femoral-Facial Syndrome
Short femur, Micrognathia, Renal hypoplasia/aplasia, Long penis, Abnormal localization of kidney,... ORPHA:1988
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset
Hypergonadotropic hypogonadism, Ataxia, Tremor, Abnormal pyramidal sign, Dysmetria, Gait ataxia, ... OMIM:617145
Microphthalmia With Limb Anomalies
Micrognathia, Tibial bowing, Camptodactyly of 2nd-5th fingers, Foot oligodactyly, Clinodactyly of... ORPHA:1106
Spinocerebellar Ataxia 34
Ataxia, Epidermal hyperkeratosis, Limb ataxia, Gait ataxia, Dysdiadochokinesis, Erythroderma, Int... OMIM:133190
Radio-Tartaglia Syndrome
Tremor, Synophrys, Low anterior hairline, Conductive hearing impairment, Abnormal repetitive mann... OMIM:619312
Juvenile Sialidosis Type 2
Cataract, Ataxia, Corneal opacity, Dysmetria, Dysphagia, Low-set ears, Generalized hypertrichosis... ORPHA:93399
Anterior Segment Dysgenesis 8
Iridodonesis, Cataract, Ectopia lentis, Uveal ectropion, Hypoplasia of the iris, Iris transillumi... OMIM:617319
Transketolase Deficiency
Cataract, Proportionate short stature, Seborrheic dermatitis, Elevated circulating ribitol concen... ORPHA:488618
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy
Ridged nail, Alopecia, Nail dystrophy, Nail pits OMIM:601705
Biotinidase Deficiency
Alopecia, Skin rash, Recurrent skin infections, Ataxia, Seborrheic dermatitis, Sensorineural hear... OMIM:253260
Spondyloepiphyseal Dysplasia, Kondo-Fu Type
Waddling gait, Cataract, Small for gestational age, Posteriorly rotated ears, Short stature, Decr... OMIM:618392
Ichthyosis, Congenital, Autosomal Recessive 2
Anhidrosis, Alopecia, Thin nail, Abnormal hair morphology, Erythema, Hypohidrosis, Growth delay, ... OMIM:242100
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Alopecia, Glomerulonephritis, Eczema, Hepatitis, Arthritis, Erythroderma, Failure to thrive, Hypo... OMIM:304790
Systemic Lupus Erythematosus 17
Alopecia, Chorea, Optic neuritis, Malar rash, Myelitis OMIM:301080
Yemenite Deaf-Blind Hypopigmentation Syndrome
Patchy hypo- and hyperpigmentation, Microcornea, Numerous pigmented freckles, White forelock, Sev... OMIM:601706
Monilethrix
Alopecia, Brittle hair, Abnormality of hair texture, Perifollicular hyperkeratosis, Nail dystroph... OMIM:158000
Chilblain Lupus
Inflammatory abnormality of the skin, Skin rash, Discoid lupus rash, Skin ulcer, Hyperkeratosis, ... ORPHA:90280
Christianson Syndrome
Dystonia, Cachexia, Truncal ataxia, Gait ataxia, Inappropriate laughter, Dysphagia, Macrotia, Abn... ORPHA:85278
Dermoids Of Cornea
Corneal opacity OMIM:304730
Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness
Epiphyseal dysplasia, Cataract, Coxa valga, Genu valgum, Short phalanx of finger, Brachydactyly OMIM:132450
Epilepsy, Familial Adult Myoclonic, 4
Tremor, Myoclonus OMIM:615127
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Fused labia majora, Decreased circulating cortisol level, Adrenal hyperplasia, Decreased circulat... ORPHA:95699
Cataract 11, Multiple Types
Cataract, Developmental cataract OMIM:610623
Chorea, Remitting, With Nystagmus And Cataract
Cataract OMIM:601372
Endocrine-Cerebroosteodysplasia
Syndactyly, Bowed forearm bones, Ulnar deviation of the hand, Hypospadias, Sandal gap, Micromelia... OMIM:612651
Congenital Disorder Of Glycosylation, Type If
Ataxia, Dry skin, Hyperkeratosis, Scaling skin, Erythroderma, Failure to thrive OMIM:609180
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Hypopigmentation of hair, Short stature, Partial albinism ORPHA:90023
Spinocerebellar Ataxia Type 37
Tremor, Cogwheel rigidity, Dysdiadochokinesis, Myoclonus, Truncal ataxia, Limb dysmetria ORPHA:363710
Intellectual Developmental Disorder, X-Linked 109
Hyperactivity, Short stature, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agita... OMIM:309548
Mucous Membrane Pemphigoid
Corneal opacity ORPHA:46486
Adrenoleukodystrophy
Alopecia, Primary adrenal insufficiency, Limb ataxia, Attention deficit hyperactivity disorder, T... OMIM:300100
Ectodermal Dysplasia-Syndactyly Syndrome 1
Sparse scalp hair, Alopecia, Sparse eyelashes, Absent facial hair, Hypoplastic toenails, Coarse h... OMIM:613573
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Renal malrotation, Multicystic kidney dysplasia, Cataract, Long foot, Abnormal thumb morphology, ... ORPHA:500095
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Hypoparathyroidism, Atrophic gastritis, Chronic active hepatitis, Alopecia, Cataract, Iridocyclit... OMIM:240300
Congenital Lethal Erythroderma
Congenital exfoliative erythroderma, Failure to thrive, Hypoalbuminemia, Dry skin ORPHA:1954
Glaucoma 3, Primary Congenital, D
Corneal opacity, Primary congenital glaucoma, Ectopia lentis OMIM:613086
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Bifid scrotum, Hypoplastic pubic ramus, Proximal placement of thumb, Micrognathia, Short metatars... OMIM:609945
Congenital Disorder Of Glycosylation, Type Iq
Cataract, Eczema, Dry skin, Cutis laxa, Abnormality of skin pigmentation, Hyperkeratosis, Low-set... OMIM:612379
Stuve-Wiedemann Syndrome 1
Micrognathia, Femoral bowing, Tibial bowing, Knee flexion contracture, Short tibia, Short phalanx... OMIM:601559
Upper Limb Defect-Eye And Ear Abnormalities Syndrome
Short thumb, Short metacarpal, Cataract ORPHA:2489
Microphthalmia, Isolated, With Coloboma 3
Cataract, Iris coloboma OMIM:610092
Familial Hyperaldosteronism Type Ii
Adrenal hyperplasia, Glucocortocoid-insensitive primary hyperaldosteronism, Abnormal circulating ... ORPHA:404
Harlequin Ichthyosis
Cataract, Hearing abnormality, Hyperkeratosis, Self-injurious behavior, Erythroderma ORPHA:457
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Hypopigmentation of hair, Short stature, Albinism, Pallor, Hypopigmentation of the skin ORPHA:2786
Trichothiodystrophy
Ridged nail, Congenital exfoliative erythroderma, Brittle hair, Protruding ear, Gait ataxia, Micr... ORPHA:33364
Chilblain Lupus 1
Abnormality of the nail, Chilblains, Skin ulcer OMIM:610448
Baralle-Macken Syndrome
Cataract, Inability to walk, Hirsutism, Obesity, Dystonia, Cafe-au-lait spot, Striae distensae OMIM:619255
Sialidosis Type 2
Short stature, Corneal opacity, Ataxia, Tremor, Hearing impairment ORPHA:87876
Ectodermal Dysplasia 15, Hypohidrotic/Hair Type
Sparse scalp hair, Sparse eyelashes, Eczema, Slow-growing hair, Pruritus, Hypohidrosis, Palmoplan... OMIM:618535
Hypotrichosis Simplex Of The Scalp
Abnormal eyebrow morphology, Sparse scalp hair, Parakeratosis, Allergic rhinitis, Absent facial h... ORPHA:90368
Exfoliation Syndrome
Cataract, Abnormal lens morphology, Anisocoria, Pseudoexfoliation, Pigment deposition in the trab... OMIM:177650
Prader-Willi Syndrome Due To Imprinting Mutation
Hypopigmentation of the skin, Hypopigmentation of hair, Short stature, Obesity, Polyphagia, Iris ... ORPHA:177910
Dermatitis, Atopic
Keratoconus, Cataract, Recurrent skin infections, Allergic rhinitis, Eczema, Pruritus, Atopic der... OMIM:603165
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type
Hyperactivity, Short stature, Hirsutism, Bruxism OMIM:300434
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Decreased circulating cortisol level, Ambiguous genitalia, female, Increased circulating renin le... ORPHA:90791
Developmental And Epileptic Encephalopathy 58
Inability to walk, Abnormal repetitive mannerisms OMIM:617830
Epidermolytic Hyperkeratosis 2
Palmoplantar hyperkeratosis, Hyperkeratosis, Cobblestone-like hyperkeratosis, Palmoplantar kerato... OMIM:620150
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatomegaly, Renal insufficiency, Absence of renal corticomedullary differentiation, Splenomegal... OMIM:263200
Congenital Heart Defect-Round Face-Developmental Delay Syndrome
Hypopigmentation of hair, Generalized hyperpigmentation, Short stature ORPHA:1355
Syndromic Recessive X-Linked Ichthyosis
Short stature, Corneal opacity, Cryptorchidism, Hypohidrosis, Hyperkeratosis, Attention deficit h... ORPHA:281090
Recessive X-Linked Ichthyosis
Cryptorchidism, Hypohidrosis, Hyperkeratosis, Attention deficit hyperactivity disorder, Opacifica... ORPHA:461
Bent Bone Dysplasia Syndrome 2
Hepatomegaly, Ulnar deviation of the hand, Bowed humerus, Ulnar bowing, Femoral bowing, Short ste... OMIM:620076
Aniridia And Absent Patella
Aniridia, Cataract, Aplasia/Hypoplasia of the patella OMIM:106220
Hypohidrotic Ectodermal Dysplasia
Abnormal hair quantity, Sinusitis, Slow-growing hair, Eczema, Xerostomia, Dry skin, Hypohidrosis,... ORPHA:238468
Mietens Syndrome
Hypoplasia of the ulna, Cataract, Corneal opacity, Talipes, Sclerocornea, Coxa valga, Metatarsus ... ORPHA:2557
Mucoepithelial Dysplasia, Hereditary
Alopecia, Cataract, Pneumonia, Recurrent pneumonia, Chronic mucocutaneous candidiasis, Keratoconj... OMIM:158310
Brunet-Wagner Neurodevelopmental Syndrome
Abnormal repetitive mannerisms, Self-injurious behavior, Low anterior hairline, Thin eyebrow OMIM:619690
Hypomelanosis Of Ito
Macular hypopigmented whorls, streaks, and patches, Alopecia, Cataract, Iris coloboma OMIM:300337
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome
Low-set, posteriorly rotated ears, Alopecia, Severe short stature, Moderate postnatal growth reta... ORPHA:1005
Microcephalic Osteodysplastic Dysplasia, Saul-Wilson Type
Cataract, Hypoplasia of the odontoid process, Small hand, Cone-shaped epiphyses of the phalanges ... ORPHA:85172
Acheiropodia
Short humerus, Aplasia of the ulna, Absent radius, Absent hand, Upper limb phocomelia, Abnormal e... ORPHA:931
Autosomal Dominant Polycystic Kidney Disease
Renal insufficiency, Recurrent urinary tract infections, Chronic kidney disease, Stage 5 chronic ... ORPHA:730
Hereditary Mucoepithelial Dysplasia
Alopecia, Cataract, Corneal dystrophy, Fine hair, Hyperkeratosis, Sparse hair ORPHA:1839
Cystinosis
Short stature, Corneal opacity, Hypothyroidism, Hypokalemia, Gait disturbance, Hypophosphatemia, ... ORPHA:213
Genetic Hyperferritinemia Without Iron Overload
Cataract, Increased circulating ferritin concentration, Abnormal serum iron concentration, Elevat... ORPHA:254704
Robin Sequence With Cleft Mandible And Limb Anomalies
Proximal placement of thumb, Micrognathia, Clinodactyly of the 5th finger, Short tibia, Short pha... OMIM:268305
Chanarin-Dorfman Syndrome
Alopecia, Ataxia, Sensorineural hearing impairment, Microtia, Subcapsular cataract OMIM:275630
Neurodevelopmental Disorder With Hypotonia And Impaired Expressive Language And With Or Without Seizures
Abnormal repetitive mannerisms, Agitation, Aggressive behavior OMIM:617171
Dystonia 12
Torticollis, Parkinsonism, Tremor, Bradykinesia, Dystonia OMIM:128235
Waardenburg Syndrome Type 2
Hypopigmentation of hair, Sensorineural hearing impairment, Hypopigmented skin patches, Premature... ORPHA:895
Diaphanospondylodysostosis
Nephrogenic rest, Micrognathia, Missing ribs, Nephroblastomatosis, Horseshoe kidney, Narrow pelvi... OMIM:608022
Parkinson Disease 7, Autosomal Recessive Early-Onset
Resting tremor, Postural tremor, Rigidity, Leg dystonia, Blepharospasm, Bradykinesia, Parkinsonis... OMIM:606324
Generalized Pustular Psoriasis
Hyponatremia, Elevated circulating C-reactive protein concentration, Pustule, Overweight, Cheilit... ORPHA:247353
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Hepatomegaly, Cataract, Proteinuria, Glomerulonephritis, Rhizomelia, Short iliac bones, Metaphyse... OMIM:614376
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive
Inability to walk, Self-injurious behavior, Abnormal repetitive mannerisms, Dystonia OMIM:617820
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome
Precocious puberty, Aplasia of the phalanges of the 3rd toe, Hypergonadotropic hypogonadism, Poly... ORPHA:2229
Immunodeficiency, Common Variable, 12, With Autoimmunity
Atrophic gastritis, Alopecia, Recurrent skin infections, Recurrent pneumonia, Pyoderma gangrenosu... OMIM:616576
Hyperphenylalaninemia, Bh4-Deficient, C
Tremor, Choreoathetosis, Hypertonia, Myoclonus, Dystonia OMIM:261630
Congenital Rubella Syndrome
Abnormality of retinal pigmentation, Cataract, Skin rash, Short stature, Corneal opacity, Sensori... ORPHA:290
Griscelli Syndrome, Type 2
Accumulation of melanosomes in melanocytes, Silver-gray hair, Hypopigmentation of the skin, Melan... OMIM:607624
Glut1 Deficiency Syndrome 2
Hemolytic anemia, Reticulocytosis, Ataxia, Tremor, Splenomegaly, Choreoathetosis, Dystonia OMIM:612126
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Ataxia, Tremor, Babinski sign, Gait ataxia, Abnormality of extrapyramidal motor function, Myoclonus OMIM:615362
Angelman Syndrome Due To A Point Mutation
Hypopigmentation of hair, Broad-based gait, Ataxia, Abnormal eating behavior, Tongue thrusting, O... ORPHA:411511
Epilepsy, Familial Adult Myoclonic, 5
Tremor, Myoclonus OMIM:615400
Bresek Syndrome
Alopecia, Cryptorchidism, Protruding ear, Growth delay, Low-set ears, Neonatal death, Intrauterin... ORPHA:85284
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Hypoplasia of the vagina, Clitoral hypertrophy, Increased circulating androstenedione concentrati... OMIM:202010
Albinism, Oculocutaneous, Type Iv
Hypopigmentation of hair, Blue irides, Albinism OMIM:606574
Rapp-Hodgkin Syndrome
Sparse eyelashes, Slow-growing hair, Supernumerary nipple, Short stature, Sparse eyebrow, Dry ski... OMIM:129400
Renal-Hepatic-Pancreatic Dysplasia 2
Hepatomegaly, Femoral bowing, Talipes equinovarus, Cystic renal dysplasia, Enlarged kidney OMIM:615415
Woolly Hair Nevus
Curly hair, Patchy hypopigmentation of hair, Fine hair, Persistent pupillary membrane, Woolly sca... ORPHA:79414
Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement
Torticollis, Upper limb postural tremor, Hand tremor, Blepharospasm, Myoclonus, Limb dystonia, Or... ORPHA:420485
Familial Hyperaldosteronism Type I
Adrenal hyperplasia, Dexamethasone-suppressible primary hyperaldosteronism, Abnormal circulating ... ORPHA:403
Senior-Loken Syndrome
Cataract, Chronic kidney disease, Stage 5 chronic kidney disease, Cone-shaped epiphysis, Nephrono... ORPHA:3156
Intellectual Developmental Disorder, Autosomal Dominant 52