Gene Summary

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

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

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

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Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Eye Morphology

Images Ophthalmoscopy

147 Images

Eye Morphology

Images Slit Lamp

123 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

Eye Morphology

Images Ophthalmoscopy

92 Images

Gross Pathology and Tissue Collection

Images

8 Images

Gross Pathology and Tissue Collection

Images

9 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

Eye Morphology

Images Slit Lamp

9 Images

Histopathology

Images

11 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 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
Camptodactyly of finger, Hand polydactyly, Short tibia, Toe syndactyly, 1-5 finger syndactyly, Fo... ORPHA:93405
Optic Atrophy 2
Tremor, Absent Achilles reflex, Babinski sign, Dysdiadochokinesis OMIM:311050
Erythrokeratodermia Variabilis
Cataract, Erythema, Generalized hirsutism, Irregular hyperpigmentation, Skin rash, Hypermelanotic... ORPHA:317
Polycystic Kidney Disease 5
Hepatosplenomegaly, Polycystic kidney dysplasia, Stage 5 chronic kidney disease, Enlarged kidney,... OMIM:617610
Acromesomelic Dysplasia 2C
Distal femoral bowing, Hip dislocation, Short thumb, Hypoplasia of the radius, Short tibia, Abnor... OMIM:201250
Congenital Ichthyosiform Erythroderma
Hypohidrosis, Corneal erosion, Abnormality of the nail, Alopecia, Short stature, Failure to thriv... ORPHA:79394
Acromesomelic Dysplasia 2A
Short humerus, Aplasia/Hypoplasia of metatarsal bones, Short tibia, Short digit, Pes valgus, Acro... OMIM:200700
Episodic Ataxia, Type 1
Tremor, Slurred speech, Spastic gait, Babinski sign, Incoordination, Episodic ataxia OMIM:160120
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Limb undergrowth, Short tibia, Short 4th metacarpal, Short 3rd metacarpal, Micromelia, Short long... OMIM:118651
Osebold-Remondini Syndrome
Type A brachydactyly, Hypoplasia of the radius, Short tibia, Broad toe, Mesomelia, Broad finger, ... OMIM:112910
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3
Tremor, Cerebellar ataxia associated with quadrupedal gait, Slurred speech, Ataxia OMIM:613227
Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis
Tremor, Pes cavus, Palmoplantar hyperkeratosis, Spastic paraplegia OMIM:309560
Acromesomelic Dysplasia, Grebe Type
Short tibia, Synostosis of carpal bones, Aplasia/Hypoplasia of the thumb, Micromelia, Aplasia/Hyp... ORPHA:2098
Primary Orthostatic Tremor
Tremor, Abnormality of extrapyramidal motor function ORPHA:238606
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Decreased testicular size, Perioral erythema, Ataxia, Dry skin, Short stature, Failure to thrive,... OMIM:201100
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome
Foot oligodactyly, Short tibia, Syndactyly, Fibular aplasia, Hand oligodactyly, Tibial bowing 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
Radial bowing, Hypoplasia of the radius, Short tibia, Mesomelia, Short femoral neck, Hypoplasia o... OMIM:249700
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly
Absent tibia, Preaxial polydactyly, Short tibia, Triphalangeal thumb, Fibular duplication OMIM:188740
Fibular Hemimelia
Oligodactyly, Increased laxity of ankles, Short tibia, Toe syndactyly, Short toe, Fibular aplasia... ORPHA:93323
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development
Cryptorchidism, Micropenis, Short tibia, Short femur, Hypoplasia of the ulna, Fibular hypoplasia,... OMIM:612447
Hypertrophic Neuropathy And Cataract
Cataract OMIM:239900
Endove Syndrome, Limb-Only Type
Hydronephrosis, 3-4 finger syndactyly, Vesicoureteral reflux, Triangular tibia, Disproportionate ... OMIM:619217
Primary Dystonia, Dyt27 Type
Limb dystonia, Axial dystonia, Upper limb postural tremor, Focal dystonia, Writer's cramp, Oroman... ORPHA:464440
Acheiropody
Aplasia of the ulna, Short humerus, Absent hand, Carpal bone aplasia, Absent radius, Aplasia of m... OMIM:200500
Graham Little-Piccardi-Lassueur Syndrome
Sparse axillary hair, Alopecia, Pruritus, Perifollicular hyperkeratosis, Sparse pubic hair, Spars... ORPHA:505
Dystonia 27
Limb dystonia, Torticollis, Postural tremor, Writer's cramp, Oromandibular dystonia, Laryngeal dy... OMIM:616411
Leri-Weill Dyschondrosteosis
Abnormality of the humerus, Abnormal metatarsal morphology, Abnormal carpal morphology, Short tib... OMIM:127300
Cataract And Congenital Ichthyosis
Cataract OMIM:212400
Hidrotic Ectodermal Dysplasia
Anonychia, Hearing impairment, Sparse eyebrow, Nail dystrophy, Brittle scalp hair, Sparse hair, G... ORPHA:189
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness
Cataract, Short thumb OMIM:274205
Spinocerebellar Ataxia Type 15/16
Ataxia, Upper limb postural tremor, Head tremor, Gait ataxia, Tremor by anatomical site, Action t... ORPHA:98769
Congenital Megacalycosis
Recurrent urinary tract infections, Hydronephrosis, Abnormal renal physiology, Enlarged kidney, R... ORPHA:93109
Tremor, Hereditary Essential, 6
Head tremor, Postural tremor, Kinetic tremor, Vocal tremor OMIM:618866
Tremor, Hereditary Essential, 5
Intention tremor, Tongue tremor, Postural tremor, Kinetic tremor OMIM:616736
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive
Decreased circulating copper concentration, Fragile nails, Alopecia, Short stature, Increased ser... OMIM:242150
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type
Hypoplasia of the radius, Short tibia, Pseudoarthrosis OMIM:156230
Zinc Deficiency, Transient Neonatal
Eczema, Decreased serum zinc, Alopecia OMIM:608118
Episodic Ataxia With Slurred Speech
Tremor, Gait ataxia, Slurred speech ORPHA:401953
Lethal Faciocardiomelic Dysplasia
Radial club hand, Short thumb, Hypoplasia of the radius, Short tibia, Microretrognathia, Short 5t... ORPHA:1972
Bardet-Biedl Syndrome 18
Cataract, Renal insufficiency, Stage 5 chronic kidney disease, Brachydactyly OMIM:615995
Odonto-Onycho Dysplasia-Alopecia Syndrome
Sparse body hair, Alopecia, Abnormal fingernail morphology, Sparse eyebrow, Palmoplantar keratode... ORPHA:2722
Gómez-López-Hernández Syndrome
Impaired pain sensation, Toenail dysplasia, Low-set ears, Ataxia, Short stature, Corneal opacity,... ORPHA:1532
Léri-Weill Dyschondrosteosis
Abnormality of the humerus, Short tibia, Micromelia, Dorsal subluxation of ulna, Diaphyseal thick... ORPHA:240
Ichthyosis, Hystrix-Like, With Deafness
Cobblestone-like hyperkeratosis, Punctate keratitis, Absent eyelashes, Sparse eyebrow, Palmoplant... OMIM:602540
Spastic Paraparesis And Deafness
Tremor, Hypogonadism, Spastic paraparesis OMIM:312910
Spinocerebellar Ataxia 43
Limb ataxia, Ataxia, Pes cavus, Rigidity, Tremor, Gait ataxia 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 cutaneous abscess formation, Recurrent skin infections, Inflammatory abnormality of the... ORPHA:499
Gollop-Wolfgang Complex
Aplasia/Hypoplasia of the tibia, Ectrodactyly, Bifid femur, Hand monodactyly, Aplasia/Hypoplasia ... ORPHA:1986
Leukoencephalopathy, Brain Calcifications, And Cysts
Spasticity, Abnormal pyramidal sign, Ataxia, Hemiplegia, Abnormality of extrapyramidal motor func... OMIM:614561
Oliver-Mcfarlane Syndrome
Delayed puberty, Small for gestational age, Long eyelashes, Cryptorchidism, Severe short stature,... OMIM:275400
Immunodeficiency, Common Variable, 6
Hydronephrosis, Glomerulonephritis, Stage 5 chronic kidney disease, Enlarged kidney, Macroscopic ... OMIM:613496
Primary Dystonia, Dyt13 Type
Limb dystonia, Torticollis, Postural tremor, Generalized dystonia, Focal dystonia, Action tremor,... ORPHA:98807
Neuronopathy, Distal Hereditary Motor, Type Viia
Tremor, Pes cavus, Vocal cord paralysis, Vocal cord paresis OMIM:158580
Mesomelic Dysplasia, Savarirayan Type
Hip dislocation, Short tibia, Dislocated radial head, Mesomelia, Abnormal foot morphology, Fibula... OMIM:605274
Dystonia 3, Torsion, X-Linked
Parkinsonism with favorable response to dopaminergic medication, Chorea, Tremor, Myoclonus, Torsi... OMIM:314250
Corneal Dystrophy, Groenouw Type I
Cataract, Granular corneal dystrophy, Punctate corneal dystrophy, Nodular corneal dystrophy OMIM:121900
Slc39A8-Cdg
Low-set ears, Abnormal blood zinc concentration, Inability to walk, Astigmatism, Failure to thriv... ORPHA:468699
Acrocapitofemoral Dysplasia
Short distal phalanx of finger, Short tibia, Small finger, Micromelia, Flared iliac wing, Radial ... OMIM:607778
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis
Cataract, Delayed puberty, Hypohidrosis, Nail dysplasia, Erysipelas, Alopecia, Elevated circulati... OMIM:615704
Spinocerebellar Ataxia 20
Abnormal pyramidal sign, Limb ataxia, Postural tremor, Palatal tremor, Gait ataxia, Action tremor OMIM:608687
Tremor, Hereditary Essential, 1
Postural tremor, Hand tremor, Action tremor OMIM:190300
Flynn-Aird Syndrome
Cataract, Ataxia, Alopecia, Progressive sensorineural hearing impairment, Alopecia of scalp, Hype... OMIM:136300
Parkinson Disease 15, Autosomal Recessive Early-Onset
Parkinsonism, Dystonia, Parkinsonism with favorable response to dopaminergic medication, Abnormal... OMIM:260300
Bathing Suit Ichthyosis
Hypohidrosis, Parakeratosis, Palmoplantar scaling skin, Scaling skin, Erythroderma, Alopecia, Nai... ORPHA:100976
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Delayed puberty, Anonychia, Nail dysplasia, Irregular hyperpigmentation, Corneal erosion, Abnorma... ORPHA:89842
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
Sparse body hair, Alopecia universalis, Abnormal eyelash morphology, Hearing impairment, Periodon... ORPHA:1008
Hypotrichosis Simplex
Sparse body hair, Alopecia, Sparse eyebrow, Sparse hair, Sparse eyelashes, Sparse scalp hair ORPHA:55654
Perifolliculitis Capitis Abscedens Et Suffodiens, Familial
Alopecia of scalp, Perifolliculitis, Alopecia OMIM:260910
Alopecia Areata 1
Nail pits, Alopecia universalis, Patchy alopecia, Trachyonychia, Alopecia totalis OMIM:104000
Ectodermal Dysplasia-Blindness Syndrome
Cataract, Hypohidrosis, Protruding ear, Fine hair, Keratoconjunctivitis sicca, Short stature, Cor... ORPHA:1806
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss
Decreased patellar reflex, Abnormal foot morphology, Tremor, Absent patellar reflexes OMIM:614369
Hypotrichosis 4
Sparse body hair, Uncombable hair, Alopecia, Sparse eyebrow, Sparse eyelashes, Sparse scalp hair OMIM:146550
Alopecia Universalis Congenita
Alopecia universalis, Absent axillary hair, Absent eyelashes, Absent eyebrow, Absent pubic hair OMIM:203655
Lipoid Congenital Adrenal Hyperplasia
Hypospadias, Adrenogenital syndrome, Congenital adrenal hyperplasia OMIM:201710
Tietz Syndrome
Abnormal anterior chamber morphology, Hearing impairment, Hypopigmentation of the skin, Hypopigme... ORPHA:42665
Spinal Muscular Atrophy, Jokela Type
Pes planus, Pes cavus, Tremor, Hammertoe, Fasciculations, Calf muscle hypertrophy OMIM:615048
Cataract 42
Cataract, Developmental cataract OMIM:115900
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, Diffuse palmoplantar hyperkeratosis, Alopecia, Dystrophic toenail, Hypopigmenta... OMIM:617294
Intellectual Developmental Disorder With Poor Growth And With Or Without Seizures Or Ataxia
Developmental cataract, Gait ataxia, Increased LDL cholesterol concentration, Fair hair OMIM:618808
Trichothiodystrophy 1, Photosensitive
Trichoschisis, Protruding ear, Brittle hair, Keratoconjunctivitis sicca, Fragile nails, Nail dyst... OMIM:601675
Segawa Syndrome, Autosomal Recessive
Limb dystonia, Parkinsonism, Parkinsonism with favorable response to dopaminergic medication, Abn... OMIM:605407
Tibial Hemimelia
Oligodactyly, Hip dislocation, Hip dysplasia, Polydactyly, Ambiguous genitalia, Short tibia, Incr... ORPHA:93322
Dyskinesia With Orofacial Involvement, Autosomal Recessive
Frequent falls, Tremor, Myoclonus, Hypothyroidism, Dystonia OMIM:619647
Olmsted Syndrome 1
Periorificial hyperkeratosis, Hyperparakeratosis, Nail dysplasia, Alopecia universalis, Parakerat... OMIM:614594
Candidiasis, Familial, 1
Alopecia, Chronic mucocutaneous candidiasis OMIM:114580
Moynahan Syndrome
Cachexia, Alopecia, Short stature, Sensorineural hearing impairment, Sparse hair, Hyperkeratosis ORPHA:2574
Neutropenia, Severe Congenital, 9, Autosomal Dominant
Cataract, 3-Methylglutaconic aciduria, Splenomegaly OMIM:619813
Pili Torti-Onychodysplasia Syndrome
Sparse body hair, Alopecia universalis, Abnormal pinna morphology, Brittle hair, Dry skin, Alopec... ORPHA:2890
Palmoplantar Keratoderma And Congenital Alopecia 2
Nail dysplasia, Facial erythema, Dry skin, Nail dystrophy, Developmental cataract, Palmoplantar h... OMIM:212360
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Spasticity, Babinski sign, Ataxia, Tremor OMIM:611105
Hypotrichosis 11
Alopecia universalis, Absent axillary hair, Sparse or absent eyelashes, Sparse hair, Aplasia/Hypo... OMIM:615059
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay
Tremor, Ataxia OMIM:213000
Spinocerebellar Degeneration-Corneal Dystrophy Syndrome
Corneal dystrophy, Corneal opacity, Progressive cerebellar ataxia, Ataxia ORPHA:3177
Dystonia, Dopa-Responsive
Spasticity, Torticollis, Cogwheel rigidity, Pes cavus, Parkinsonism with favorable response to do... OMIM:128230
Lamellar Ichthyosis
Chronic otitis media, Abnormal helix morphology, Abnormality of the nail, Lack of skin elasticity... ORPHA:313
Spastic Paraparesis-Deafness Syndrome
Impaired pain sensation, Cataract, Gait disturbance, Ataxia, Short stature, Sensorineural hearing... ORPHA:2815
Spinocerebellar Ataxia 40
Ataxia, Ankle clonus, Dysdiadochokinesis, Tremor, Gait ataxia, Intention tremor, Dysmetria, Spast... OMIM:616053
X-Linked Dominant Chondrodysplasia Punctata
Cataract, Low-set ears, Patchy alopecia, Severe postnatal growth retardation, Abnormal pinna morp... ORPHA:35173
Ichthyosis With Confetti
Hypoplastic nipples, Scaling skin, Short stature, Pruritus, Hypertrichosis, Palmoplantar hyperker... OMIM:609165
Nephronophthisis 16
Polycystic kidney dysplasia, Stage 5 chronic kidney disease, Enlarged kidney, Renal insufficiency... OMIM:615382
Alopecia Universalis
Absent eyebrow, Alopecia universalis, Patchy alopecia, Absent eyelashes ORPHA:701
Laurin-Sandrow Syndrome
Patellar aplasia, Hand polydactyly, Absent radius, Absent tibia, Syndactyly, Broad foot, Triphala... OMIM:135750
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome
Onychogryposis of fingernail, Severe short stature, Protruding ear, Hypopigmented skin patches, A... ORPHA:2251
Myoclonus, Familial, 1
Frequent falls, Ataxia, Action myoclonus, Action tremor, Myoclonus OMIM:614937
Classic Mycosis Fungoides
Erythema, Irregular hyperpigmentation, Skin rash, Hypopigmented skin patches, Abnormality of the ... ORPHA:2584
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Hyperkinetic movements, Torticollis, Ataxia, Chorea, Tremor, Dystonia OMIM:618425
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Metaphyseal spurs, Polycystic kidney dysplasia, Micropenis, Absent tibia, Preaxial polydactyly, M... OMIM:613091
Aldh18A1-Related De Barsy Syndrome
Cataract ORPHA:35664
Clouston Syndrome
Cataract, Nail dysplasia, Onycholysis, Absent axillary hair, Fine hair, Brittle hair, Blepharitis... OMIM:129500
Spinocerebellar Ataxia, Autosomal Recessive 16
Spasticity, Limb ataxia, Hypogonadism, Ankle clonus, Tremor, Babinski sign, Truncal ataxia OMIM:615768
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Small for gestational age, Hyperammonemia, Intrauterine growth retardation, Conjugated hyperbilir... OMIM:617093
Thumb Deformity And Alopecia
Short stature, Increased groin pigmentation with raindrop depigmentation, Alopecia OMIM:188150
Peeling Skin Syndrome 1
Onycholysis, Brittle hair, Scaling skin, Short stature, Pruritus, Palmoplantar hyperhidrosis, Nai... OMIM:270300
Epidermolysis Bullosa Simplex With Mottled Pigmentation
Hyperkeratotic papule, Nail dysplasia, Spotty hypopigmentation, Reticulated skin pigmentation, Hy... ORPHA:79397
Ectodermal Dysplasia 6, Hair/Nail Type
Sparse hair, Thin toenail, Alopecia, Dystrophic toenail OMIM:614928
L-Ferritin Deficiency
Decreased circulating ferritin concentration, Alopecia OMIM:615604
Absence Deformity Of Leg-Cataract Syndrome
Cataract, Abnormality of the lower limb, Abnormal epiphysis morphology, Lower limb undergrowth, A... ORPHA:2310
Flynn-Aird Syndrome
Impaired pain sensation, Cataract, Ataxia, Skin ulcer, Cachexia, Alopecia, Progressive sensorineu... ORPHA:2047
Ichthyosis, Congenital, Autosomal Recessive 11
Sparse body hair, Hypohidrosis, Curly eyelashes, Curly hair, Brittle hair, Blepharitis, Pruritus,... OMIM:602400
Spinocerebellar Ataxia, Autosomal Recessive 4
Spasticity, Frequent falls, Abnormal pyramidal sign, Torticollis, Ataxia, Pes cavus, Tremor, Gait... OMIM:607317
Hepatorenocardiac Degenerative Fibrosis
Hepatosplenomegaly, Renal interstitial fibrosis, Enlarged kidney, Renal cyst, Reduced renal corti... OMIM:619902
Spinocerebellar Ataxia Type 20
Abnormal pyramidal sign, Kinetic tremor, Isometric tremor, Ataxia, Upper limb postural tremor, Ga... ORPHA:101110
Winchester Syndrome
Corneal opacity, Hirsutism OMIM:277950
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Parkinsonism, Ataxia, Rigidity, Chorea, Tremor, Myoclonus, Upper motor neuron dysfunction, Dystonia ORPHA:401901
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia
Toenail dysplasia, Ectopia lentis, Alopecia, Abnormal fingernail morphology, Hearing impairment, ... ORPHA:2325
Sandhoff Disease, Adult Form
Spasticity, Focal dystonia, Tremor, Gait ataxia, Fasciculations, Dystonia ORPHA:309169
Orofaciodigital Syndrome Type 10
Oligodactyly, Preaxial polydactyly, Metatarsal synostosis, Polysyndactyly of hallux, Hypoplasia o... ORPHA:2756
Parkinsonism With Spasticity, X-Linked
Spasticity, Parkinsonism, Cogwheel rigidity, Bradykinesia, Resting tremor, Babinski sign OMIM:300911
Tibial Aplasia-Ectrodactyly Syndrome
Patellar aplasia, Abnormality of fibula morphology, Ectrodactyly, Finger syndactyly, Short femur,... ORPHA:3329
Corneal Dystrophy-Perceptive Deafness Syndrome
Corneal opacity, Sensorineural hearing impairment, Corneal dystrophy ORPHA:1490
Galactosemia Ii
Cataract, Galactosuria OMIM:230200
Bullous Dystrophy, Hereditary Macular Type
Hyperpigmentation of the skin, Abnormality of the nail, Severe short stature, Alopecia totalis OMIM:302000
Familial Reactive Perforating Collagenosis
Hyperkeratotic papule, Inflammatory abnormality of the skin, Maculopapular exanthema, Abnormal pi... ORPHA:79147
N-Acetylaspartate Deficiency
Unsteady gait, Broad-based gait, Short stature, Abnormal repetitive mannerisms, Decreased body we... OMIM:614063
Spinocerebellar Ataxia Type 31
Spasticity, Gait ataxia, Tremor ORPHA:217012
Trichomegaly
Cataract OMIM:190330
Dyskinesia, Limb And Orofacial, Infantile-Onset
Frequent falls, Hyperkinetic movements, Chorea, Tremor, Hemiballismus OMIM:616921
Alopecia Totalis
Alopecia of scalp, Alopecia ORPHA:700
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia
Hypohidrosis, Abnormal toenail morphology, Fine hair, Dry skin, Alopecia, Abnormal fingernail mor... ORPHA:248
Cataract-Microcornea Syndrome
Cataract, Iris coloboma, Corneal dystrophy, Corneal opacity, Microcornea ORPHA:1377
X-Linked Agammaglobulinemia
Chronic otitis media, Recurrent cutaneous abscess formation, Skin rash, Hypopigmented skin patche... ORPHA:47
Blount Disease
Abnormality of the proximal tibial epiphysis, Abnormal tibial metaphysis morphology, Tibial bowin... ORPHA:2768
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Cataract, Alopecia, Persistent pupillary membrane, Hypopigmentation of hair, Corneal opacity, Apl... ORPHA:1067
Chromosome 17P13.3, Telomeric, Duplication Syndrome
Oligodactyly, Camptodactyly, 3-4 finger syndactyly, Absent tibia, Absent toe, Short tibia, Short ... OMIM:612576
Alopecia-Intellectual Disability Syndrome 1
Alopecia universalis, Alopecia OMIM:203650
Pigmented Nodular Adrenocortical Disease, Primary, 3
Adrenal hyperplasia, Increased circulating cortisol level OMIM:614190
Gonadoblastoma
Dysgerminoma, Increased serum testosterone level, Ambiguous genitalia, Gonadal dysgenesis with fe... ORPHA:206484
Growth Delay-Intellectual Disability-Hepatopathy Syndrome
Dermal translucency, Intrauterine growth retardation, Esophagitis, Sensorineural hearing impairme... ORPHA:541423
Parc Syndrome
Absent eyebrow, Alopecia, Absent eyelashes OMIM:600331
Alopecia, Congenital
Sparse hair, Alopecia OMIM:300042
Spinocerebellar Ataxia 37
Frequent falls, Ataxia, Tremor OMIM:615945
Griscelli Syndrome, Type 1
Accumulation of melanosomes in melanocytes, Melanin pigment aggregation in hair shafts, Large clu... OMIM:214450
Tremor, Hereditary Essential, 4
Postural tremor, Action tremor OMIM:614782
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant
Cataract, Nail dysplasia, Facial erythema, Blepharitis, Alopecia, Conjunctivitis, Sparse eyebrow,... OMIM:612843
Griscelli Syndrome, Type 3
White eyelashes, Large clumps of pigment irregularly distributed along hair shaft, Silver-gray hair OMIM:609227
Satoyoshi Syndrome
Hypoplasia of the ovary, Abnormality of the humerus, Abnormal metaphysis morphology, Genu varum, ... ORPHA:3130
Epidermolysis Bullosa Simplex 5D, Generalized Intermediate, Autosomal Recessive
Pruritus, Plantar hyperkeratosis, Alopecia, Nail dystrophy OMIM:616487
Orofaciodigital Syndrome Viii
Short tibia, Syndactyly, Polydactyly OMIM:300484
Hereditary Bullous Dystrophy, Macular Type
Cataract, Spotty hypopigmentation, Congenital abnormal hair pattern, Cryptorchidism, Decreased te... ORPHA:1867
Renal Dysplasia
Enlarged kidney, Abnormal renal calyx morphology, Hydroureter, Abnormal nephron morphology, Multi... ORPHA:93108
Meckel Syndrome, Type 8
Polycystic kidney dysplasia, Enlarged kidney, Polydactyly, Talipes equinovarus, Hyperechogenic ki... OMIM:613885
Quinquaud Folliculitis Decalvans
Erythema, Patchy alopecia, Recurrent skin infections, Scarring alopecia of scalp, Abnormal hair m... ORPHA:346
Galactosialidosis
Corneal opacity, Hearing impairment ORPHA:351
Rhizomelic Chondrodysplasia Punctata, Type 1
Elevated circulating phytanic acid concentration, Severe short stature, Rhizomelia, Alopecia, Sen... OMIM:215100
Nephronophthisis 2
Renal cortical microcysts, Chronic tubulointerstitial nephritis, Absence of renal corticomedullar... OMIM:602088
Sézary Syndrome
Irregular hyperpigmentation, Dry skin, Alopecia, Pruritus, Tremor, Palmoplantar keratoderma, Nail... ORPHA:3162
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Hepatomegaly, Splenomegaly, Enlarged kidney OMIM:615285
Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome
Hypohidrosis, Fine hair, Dystrophic fingernails, Alopecia, Dystrophic toenail, Short stature, Spa... ORPHA:1882
Hyperaldosteronism, Familial, Type I
Adrenal hyperplasia, Hyperaldosteronism, Decreased circulating renin level, Adrenogenital syndrome OMIM:103900
Aa Amyloidosis
Proteinuria, Abnormality of the kidney, Acute kidney injury, Enlarged kidney, Chronic kidney dise... ORPHA:85445
Spastic Ataxia 2, Autosomal Recessive
Spasticity, Frequent falls, Torticollis, Ankle clonus, Head titubation, Spastic ataxia, Tremor, G... OMIM:611302
Parkinson Disease 13, Autosomal Dominant, Susceptibility To
Tremor, Parkinsonism with favorable response to dopaminergic medication, Rigidity, Bradykinesia OMIM:610297
Netherton Syndrome
Irregular hyperpigmentation, Skin rash, Trichorrhexis nodosa, Fine hair, Dry skin, Short stature,... ORPHA:634
Spondyloepimetaphyseal Dysplasia, Missouri Type
Knee osteoarthritis, Short lower limbs, Genu varum, Flattened epiphysis, Metaphyseal irregularity... ORPHA:93356
Epilepsy, Progressive Myoclonic, 1B
Ataxia, Tremor, Myoclonus, Babinski sign, Dysmetria OMIM:612437
Hyperzincemia With Functional Zinc Depletion
Increased serum zinc, Skin rash OMIM:601979
Cataract-Nephropathy-Encephalopathy Syndrome
Cataract, Renal tubular dysfunction ORPHA:1380
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay
Cataract, Developmental cataract OMIM:613076
Chondrodysplasia Punctata 2, X-Linked Dominant
Cataract, Elevated 8(9)-cholestenol, Patchy alopecia, Abnormal pinna morphology, Rhizomelia, Fail... OMIM:302960
46,Xx Testicular Difference Of Sex Development
Polycystic ovaries, Male hypogonadism, Decreased testicular size, Ambiguous genitalia ORPHA:393
Trichodysplasia-Xeroderma Syndrome
Trichodysplasia, Sparse body hair, Trichorrhexis nodosa, Brittle hair, Dry skin, Alopecia, Coarse... ORPHA:3361
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome
Patellar aplasia, Abnormality of fibula morphology, Synostosis of carpal bones, Aplasia/Hypoplasi... ORPHA:988
Intellectual Developmental Disorder, X-Linked, Syndromic, Armfield Type
Cataract, Short foot, Small hand OMIM:300261
Severe Combined Immunodeficiency Due To Foxn1 Deficiency
Nail pits, Congenital alopecia totalis, Ridged nail ORPHA:169095
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome
Fused labia minora, Increased size of the clitoris, Abnormality of the ovary, Abnormality of the ... ORPHA:2975
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Tremor, Kinetic tremor OMIM:611808
Pityriasis Rubra Pilaris
Irregular hyperpigmentation, Abnormality of the nail, Pruritus, Palmoplantar keratoderma, Subungu... ORPHA:2897
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Hand tremor, Short stature, Gait ataxia, Abnormal repetitive mannerisms, Recurrent hand flapping,... OMIM:617862
Autosomal Dominant Epidermolytic Ichthyosis
Conjunctival hamartoma, Palmoplantar keratoderma, Hyperkeratosis, Erythroderma, Skin ulcer, Weigh... ORPHA:312
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Hypernatremia, Failure to thrive, Recurrent skin infections, Growth delay, Palmoplantar keratoder... OMIM:615508
Acrofacial Dysostosis Syndrome Of Rodriguez
Oligodactyly, Overlapping toe, Short tibia, Micrognathia, 11 pairs of ribs, Clinodactyly, Fibular... OMIM:201170
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly
Aplasia of the ulna, Absent tibia, Bifid femur, Hand monodactyly, Foot monodactyly, Split hand OMIM:228250
Alopecia-Intellectual Disability-Hypergonadotropic Hypogonadism Syndrome
Alopecia totalis ORPHA:1014
Short Rib-Polydactyly Syndrome
Polycystic kidney dysplasia, Abnormality of the kidney, Abnormal long bone morphology, Polydactyl... ORPHA:1505
Hyperphenylalaninemia, Bh4-Deficient, D
Tremor, Hypertonia OMIM:264070
Netherton Syndrome
Parakeratosis, Brittle hair, Chronic rhinitis, Failure to thrive, Recurrent skin infections, Spar... OMIM:256500
Alopecia, Familial Focal
Patchy alopecia OMIM:104110
Alopecia-Intellectual Disability Syndrome 2
Alopecia universalis OMIM:610422
Alopecia-Intellectual Disability Syndrome 3
Alopecia universalis OMIM:613930
Alopecia, Androgenetic, 1
Alopecia OMIM:109200
Spinocerebellar Ataxia 38
Limb ataxia, Ataxia, Tremor, Gait ataxia, Myoclonus OMIM:615957
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Microcornea, Corneal opacity, Large for gestational age ORPHA:2432
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement
Frequent falls, Hemiballismus, Tremor, Chorea ORPHA:494526
Spinocerebellar Ataxia Type 14
Limb ataxia, Progressive cerebellar ataxia, Abnormality of the Achilles tendon, Rigidity, Hyporef... ORPHA:98763
Omenn Syndrome
Dry skin, Alopecia, Failure to thrive, Pruritus, Pneumonia, Hypothyroidism, Thyroiditis, Aplasia/... ORPHA:39041
Inflammatory Skin And Bowel Disease, Neonatal, 1
Perioral erythema, Onychogryposis, Blepharitis, Otitis externa, Failure to thrive, Perianal eryth... OMIM:614328
Ichthyosis, Congenital, Autosomal Recessive 1
Nail dysplasia, Parakeratosis, Alopecia, Nail dystrophy, Sparse hair, Palmoplantar hyperkeratosis... OMIM:242300
Copper Deficiency, Familial Benign
Curly hair, Decreased circulating copper concentration, Early balding, Failure to thrive, Seborrh... OMIM:121270
Pseudoprogeria Syndrome
Alopecia, Short stature, Absent eyelashes, Failure to thrive, Absent eyebrow, Sparse eyebrow, Gro... ORPHA:2985
Spinal Muscular Atrophy, Late-Onset, Finkel Type
Tremor, Fasciculations OMIM:182980
Spinocerebellar Ataxia 18
Pes cavus, Progressive gait ataxia, Dysdiadochokinesis, Tremor, Babinski sign, Dysmetria OMIM:607458
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Abnormality of the ovary, Decreased testicular size, Hypogonadism ORPHA:1875
Autosomal Dominant Spastic Ataxia Type 1
Leg muscle stiffness, Limb ataxia, Lower limb spasticity, Pes cavus, Spastic dysarthria, Spastic ... ORPHA:251282
Thanatophoric Dysplasia, Glasgow Variant
Micromelia, Hepatosplenomegaly, Cataract OMIM:273680
Alopecia-Intellectual Disability Syndrome
Sparse body hair, Short stature, Alopecia, Hearing impairment, Macrotia, Growth delay, Aplasia/Hy... ORPHA:2850
Split-Hand/Foot Malformation With Long Bone Deficiency 1
Patellar aplasia, Aplasia of the 3rd finger, Absent tibia, Hand monodactyly, Short hallux, Aplasi... OMIM:119100
Renpenning Syndrome
Cataract, Decreased testicular size, Severe short stature, Iris coloboma, Alopecia, Abnormal hair... ORPHA:3242
Albinism, Oculocutaneous, Type Iii
Partial albinism, Red hair, Albinism OMIM:203290
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency
Adrenal hyperplasia, Male pseudohermaphroditism, Ambiguous genitalia, Adrenogenital syndrome OMIM:202110
Acromesomelic Dysplasia 2B
Deviation of finger, Absent toe, Rhizomelia, Short metatarsal, Short metacarpal, Patellar disloca... OMIM:228900
Atypical Pantothenate Kinase-Associated Neurodegeneration
Spasticity, Frequent falls, Limb dystonia, Abnormal pyramidal sign, Parkinsonism, Clumsiness, Rig... ORPHA:216873
Adult Neuronal Ceroid Lipofuscinosis
Spasticity, Abnormal pyramidal sign, Ataxia, Clumsiness, Abnormality of extrapyramidal motor func... ORPHA:79262
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Aplasia/Hypoplasia of metatarsal bones, Aplasia/Hypoplasia of fingers, Aplasia/Hypoplasia of the ... OMIM:228930
Holocarboxylase Synthetase Deficiency
Keratoconjunctivitis, Hyperammonemia, Ataxia, Alopecia, Growth delay, Perioral eczema, Eczema, We... ORPHA:79242
Waardenburg Syndrome, Type 2F
Blue irides, Hypermelanotic macule, Premature graying of hair, Cafe-au-lait spot, White hair, Hyp... OMIM:619947
Weismann-Netter Syndrome
Abnormality of femur morphology, Abnormality of the humerus, Abnormality of fibula morphology, Ab... ORPHA:3344
Parkinson Disease 11, Autosomal Dominant, Susceptibility To
Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Rigidity, Bradyk... OMIM:607688
Cataract 9, Multiple Types
Cataract, Iris coloboma, Developmental cataract, Progressive cataract, Microcornea OMIM:604219
Corneal Dystrophy, Endothelial, X-Linked
Band keratopathy, Corneal opacity, Corneal dystrophy OMIM:300779
Corneal Dystrophy, Posterior Polymorphous, 2
Corneal opacity, Corneal dystrophy OMIM:609140
Ichthyosis Prematurity Syndrome
Follicular hyperkeratosis, Pruritus, Hyperpigmentation of the skin, Allergic rhinitis, Alopecia o... OMIM:608649
Cataract 47
Cataract, Microcornea, Glycosuria OMIM:612018
Palmoplantar Keratoderma And Congenital Alopecia 1
Nail dysplasia, Palmoplantar erythema, Plantar hyperkeratosis, Brittle hair, Alopecia, Epidermal ... OMIM:104100
Megalocornea
Cataract, Megalocornea, Astigmatism, Iridodonesis, Mosaic corneal dystrophy, Decreased corneal th... OMIM:309300
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor
Nephroblastoma, Enlarged kidney, Micrognathia OMIM:618272
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Spasticity, Parkinsonism, Ankle clonus, Scissor gait, Tremor, Bradykinesia, Oromandibular dystoni... ORPHA:521406
Chromosome 3Q29 Deletion Syndrome
Small for gestational age, Low-set ears, Posteriorly rotated ears, Failure to thrive, Gait ataxia... OMIM:609425
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Delayed puberty, Elevated circulating follicle stimulating hormone level, Increased circulating p... ORPHA:90793
Acromesomelic Dysplasia 3
Aplasia of the proximal phalanx of the 2nd finger, Elevated circulating follicle stimulating horm... OMIM:609441
Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive
Atopic dermatitis, Chronic mucocutaneous candidiasis, Dry skin, Alopecia, Chronic oral candidiasi... OMIM:618282
Incontinentia Pigmenti
Dystrophic toenail, Skin ulcer, Erythema, Gait disturbance, Abnormality of the nail, Alopecia, Hy... ORPHA:464
Lichen Planopilaris
Onycholysis, Hypopigmented skin patches, Alopecia, Abnormal fingernail morphology, Pruritus, Hepa... ORPHA:525
Pili Torti
Abnormal eyebrow morphology, Abnormality of the nail, Brittle hair, Alopecia, Abnormality of hair... ORPHA:2889
Spinocerebellar Ataxia Type 12
Abnormal pyramidal sign, Parkinsonism, Ataxia, Postural tremor, Bradykinesia, Intention tremor, L... ORPHA:98762
Phenylketonuria
Blue irides, Cataract, Hyperphenylalaninemia, Maternal hyperphenylalaninemia, Generalized hypopig... OMIM:261600
Parkinson Disease 2, Autosomal Recessive Juvenile
Parkinsonism, Rigidity, Tremor, Bradykinesia, Dystonia OMIM:600116
Galactosemia Iv
Cataract OMIM:618881
Autosomal Recessive Cutis Laxa Type 2A
Inability to walk, Thick hair, Ataxia, Intrauterine growth retardation, Athetosis, Hearing impair... ORPHA:357058
Slc35A2-Cdg
Camptodactyly of finger, Abnormal long bone morphology, Short tibia, Coxa valga, Elevated circula... ORPHA:356961
Keratoderma Hereditarium Mutilans
Abnormal toenail morphology, Honeycomb palmoplantar hyperkeratosis, Abnormality of the nail, Alop... ORPHA:494
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2
Ataxia, Dysdiadochokinesis, Tremor, Gait ataxia, Intention tremor, Short palm, Small hand, Short ... OMIM:610185
Split-Hand With Congenital Nystagmus, Fundal Changes, And Cataracts
Cataract, Hand monodactyly, Split hand, Split foot OMIM:183800
Piebald Trait-Neurologic Defects Syndrome
Abnormal eyelash morphology, Ataxia, Hypopigmented skin patches, Abnormal eyebrow morphology, Irr... ORPHA:2885
Hereditary Sensory And Autonomic Neuropathy Type 1
Penetrating foot ulcers, Distal sensory impairment, Inability to walk, Steppage gait, Skin ulcer,... ORPHA:36386
Woolly Hair
Cataract, Sparse body hair, Fine hair, Brittle hair, Abnormal pupil morphology, Abnormality of ha... ORPHA:170
Rhizomelic Chondrodysplasia Punctata
Cataract, Sparse body hair, Rhizomelia, Dry skin, Short stature, Alopecia, Growth delay ORPHA:177
Ectodermal Dysplasia 4, Hair/Nail Type
Sparse body hair, Pili torti, Onycholysis, Brittle hair, Alopecia, Temporal hypotrichosis, Absent... OMIM:602032
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome
Overweight, Abnormality of the ear, Hypoplastic helices, Failure to thrive, Repetitive compulsive... ORPHA:391372
Encephalopathy, Progressive, With Or Without Lipodystrophy
Spasticity, Tetraparesis, Abnormal pyramidal sign, Ataxia, Tremor, Myoclonus, Dystonia OMIM:615924
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Parkinsonism with favorable response to dopaminergic medication, Postural tremor, Rigidity, Tremo... ORPHA:314632
Orofaciodigital Syndrome Iv
Short finger, Hand polydactyly, Postaxial polydactyly, Short tibia, Toe syndactyly, Micrognathia,... OMIM:258860
Intellectual Developmental Disorder With Autism And Speech Delay
Abnormal repetitive mannerisms, Inability to walk OMIM:606053
Epilepsy, Progressive Myoclonic 7
Tremor, Myoclonus, Ataxia OMIM:616187
Dystonia 11, Myoclonic
Tremor, Torticollis, Myoclonus, Writer's cramp OMIM:159900
Monilethrix
Cataract, Patchy alopecia, Abnormal eyelash morphology, Abnormal eyebrow morphology, Fine hair, F... ORPHA:573
Laurin-Sandrow Syndrome
Limb duplication, Cryptorchidism, Absent radius, Absent tibia, Finger syndactyly, Aplasia/Hypopla... ORPHA:2378
Crandall Syndrome
Sparse body hair, Fine hair, Brittle hair, Alopecia, Sensorineural hearing impairment, Abnormal t... ORPHA:202
Hurler-Scheie Syndrome
Short stature, Corneal opacity, Sensorineural hearing impairment, Rhinitis, Generalized hirsutism ORPHA:93476
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Alopecia universalis, Patchy alopecia, Failure to thrive in infancy, Scaling skin, Chronic oral c... OMIM:606367
Mucolipidosis Type Iii
Acne, Corneal opacity, Short stature, Hearing abnormality ORPHA:577
Spastic Paraplegia 6, Autosomal Dominant
Clonus, Pes cavus, Tremor, Spastic paraplegia, Spastic gait, Babinski sign, Lower limb spasticity OMIM:600363
Chromosome 15Q11-Q13 Duplication Syndrome
Abnormal repetitive mannerisms, Unsteady gait, Truncal ataxia OMIM:608636
Acrodermatitis Enteropathica
Erythema, Ridged nail, Abnormal eyebrow morphology, Cheilitis, Pustule, Abnormality of the nail, ... ORPHA:37
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Cataract, Paresthesia, Nail dysplasia, Xerostomia, Alopecia, Hypokalemia, Cachexia, Hyperpigmenta... OMIM:175500
Mesomelic Dysplasia, Savarirayan Type
Hip dislocation, Hypoplasia of proximal radius, Mesomelia, Fibular aplasia, Glenoid fossa hypopla... ORPHA:85170
Alopecia-Contractures-Dwarfism Mental Retardation Syndrome
Severe postnatal growth retardation, Large fleshy ears, Alopecia, Severe short stature OMIM:203550
Dystonia 28, Childhood-Onset
Spasticity, Torticollis, Retrocollis, Tremor, Oromandibular dystonia, Laryngeal dystonia, Myoclon... OMIM:617284
Cortisone Reductase Deficiency 1
Acne, Hirsutism, Alopecia, Obesity OMIM:604931
Hypoalphalipoproteinemia, Primary, 2
Cataract, Corneal arcus OMIM:618463
Metaphyseal Dysplasia, Braun-Tinschert Type
Broad long bones, Broad femoral head, Broad radial metaphysis, Sclerosis of middle finger phalanx... ORPHA:85188
Short Syndrome
Severe short stature, Megalocornea, Abnormal pupil morphology, Abnormal anterior chamber morpholo... ORPHA:3163
Classic Phenylketonuria
Cataract, Hyperphenylalaninemia, Lack of skin elasticity, Tremor, Hypopigmentation of the skin, H... ORPHA:79254
Bilateral Striopallidodentate Calcinosis
Intrauterine growth retardation, Corneal opacity ORPHA:1980
Congenital Disorder Of Glycosylation, Type Ig
Short humerus, Cryptorchidism, Micropenis, Short ribs, Rhizomelia, Short tibia, Short femur, Smal... OMIM:607143
Intellectual Developmental Disorder, X-Linked 72
Abnormal repetitive mannerisms, Short stature OMIM:300271
Neuroectodermal Melanolysosomal Disease
Ataxia, Premature graying of hair, Tremor, Hypopigmentation of the skin, Hypopigmentation of hair... ORPHA:33445
Corticobasal Syndrome
Limb myoclonus, Limb dystonia, Parkinsonism, Oromotor apraxia, Speech apraxia, Tremor, Bradykines... ORPHA:454887
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Abnormal repetitive mannerisms, Ataxia OMIM:618709
Pachyonychia Congenita
Ear pain, Onychogryposis of fingernail, Palmar hyperkeratosis, Follicular hyperkeratosis, Alopeci... ORPHA:2309
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Adrenal hyperplasia, Adrenogenital syndrome, Hypospadias OMIM:201910
Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination
Abnormal repetitive mannerisms, Cataract, Difficulty walking, Failure to thrive OMIM:617393
Primary Dystonia, Dyt2 Type
Limb dystonia, Torticollis, Blepharospasm, Generalized dystonia, Tremor, Torsion dystonia, Involu... ORPHA:99657
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Corneal opacity, Low-set, posteriorly rotated ears, Intrauterine growth retardation, Short stature ORPHA:2370
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency
Impaired cortisol response to corticotropin releasing hormone stimulation test, Adrenal hyperplas... OMIM:201810
Autism Spectrum Disorder Due To Auts2 Deficiency
Small for gestational age, Low-set ears, Cryptorchidism, Short stature, Repetitive compulsive beh... ORPHA:352490
Spondyloperipheral Dysplasia-Short Ulna Syndrome
Type E brachydactyly, Cataract, Hip dysplasia, Abnormal hip joint morphology, Flattened epiphysis... ORPHA:1856
Nicolaides-Baraitser Syndrome
Long eyelashes, Curly eyelashes, Severe short stature, Cryptorchidism, Alopecia, Highly arched ey... ORPHA:3051
Johnson Neuroectodermal Syndrome
Hypohidrosis, Conductive hearing impairment, Severe short stature, Protruding ear, Atresia of the... ORPHA:2316
Autoimmune Polyendocrinopathy Type 1
Cataract, Adrenal hyperplasia, Hypopigmented skin patches, Hypoparathyroidism, Decreased circulat... ORPHA:3453
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Periungual erythema, Absent eyelashes, Perianal erythema, Hearing impairment, Nail dystrophy, Cor... OMIM:308205
Dystonia 13, Torsion, Autosomal Dominant
Limb dystonia, Torticollis, Blepharospasm, Writer's cramp, Tremor, Oromandibular dystonia, Torsio... OMIM:607671
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Short humerus, Hydronephrosis, Hand polydactyly, Absent radius, Enlarged kidney, Proximal placeme... OMIM:314390
Eiken Syndrome
Epiphyseal dysplasia, Abnormal fingertip morphology, Delayed epiphyseal ossification, Short toe, ... ORPHA:79106
Multiple Epiphyseal Dysplasia, Beighton Type
Metaphyseal spurs, Cataract, Abnormal metacarpophalangeal joint morphology, Hip dysplasia, Abnorm... ORPHA:166011
Keratoderma Hereditarium Mutilans With Ichthyosis
Parakeratosis, Honeycomb palmoplantar hyperkeratosis, Onychogryposis, Alopecia, Scaling skin on f... ORPHA:79395
Progressive Supranuclear Palsy-Corticobasal Syndrome
Frequent falls, Abnormal pyramidal sign, Limb myoclonus, Parkinsonism with favorable response to ... ORPHA:240103
Ichthyosis, Congenital, Autosomal Recessive 6
Hypohidrosis, Parakeratosis, Dry skin, Scaling skin, Palmoplantar keratoderma, Orthokeratosis, Er... OMIM:612281
Waardenburg Syndrome, Type 2B
White forelock, Premature graying of hair, Sensorineural hearing impairment, Heterochromia iridis OMIM:600193
Autosomal Recessive Palmoplantar Keratoderma And Congenital Alopecia
Cataract, Lack of skin elasticity, Palmoplantar keratoderma, Nail dystrophy, Alopecia totalis ORPHA:1366
Multiple Carboxylase Deficiency
Hyperammonemia, Ataxia, Skin rash, Alopecia, Hearing impairment ORPHA:148
Prolidase Deficiency
Erythema, Generalized hirsutism, Dry skin, Low anterior hairline, Abnormal fingernail morphology,... ORPHA:742
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency
Limb ataxia, Gait disturbance, Unsteady gait, Difficulty walking, Hand tremor, Pancreatitis, Post... ORPHA:412057
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Cataract, Polycystic kidney dysplasia, Tapered toe, Hydronephrosis, Enlarged kidney, Renal insuff... OMIM:608836
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques
Erythema, Alopecia, Abnormal fingernail morphology, Palmoplantar keratoderma, Anhidrosis, Palmopl... ORPHA:659
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome
Cataract, Hypoplasia of penis, Aplasia/Hypoplasia of the lens, Genu valgum, Hypospadias ORPHA:1381
Incontinentia Pigmenti
Maculopapular exanthema, Onychogryposis, Hypoplastic nipples, Nail dystrophy, Sparse hair, Erythe... OMIM:308300
Cronkhite-Canada Syndrome
Cataract, Sparse body hair, Patchy alopecia, Dystrophic fingernails, Dystrophic toenail, Alopecia... ORPHA:2930
Trichohepatoenteric Syndrome 2
Small for gestational age, Chronic hepatitis, Trichorrhexis nodosa, Uncombable hair, Brittle hair... OMIM:614602
Femoral-Facial Syndrome
Polycystic kidney dysplasia, Abnormality of fibula morphology, Hip dysplasia, Renal hypoplasia/ap... ORPHA:1988
Spinocerebellar Ataxia 34
Limb ataxia, Ataxia, Dysdiadochokinesis, Epidermal hyperkeratosis, Gait ataxia, Intention tremor,... OMIM:133190
Foxg1 Syndrome
Inability to walk, Difficulty walking, Severe postnatal growth retardation, Bruxism, Short statur... ORPHA:561854
Basal Ganglia Calcification, Idiopathic, 1
Abnormal pyramidal sign, Parkinsonism, Rigidity, Chorea, Dysdiadochokinesis, Bradykinesia, Tremor... OMIM:213600
Obesity Due To Prohormone Convertase I Deficiency
Delayed puberty, Central adrenal insufficiency, Decreased response to growth hormone stimulation ... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Delayed puberty, Central adrenal insufficiency, Decreased response to growth hormone stimulation ... ORPHA:71526
Biotinidase Deficiency
Hyperammonemia, Ataxia, Skin rash, Alopecia, Seborrheic dermatitis, Recurrent skin infections, Se... OMIM:253260
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form
Gastrointestinal inflammation, Delayed puberty, Anonychia, Glomerulonephritis, Decreased serum zi... ORPHA:79408
Anterior Segment Dysgenesis 8
Cataract, Ectopia pupillae, Ectopia lentis, Iridodonesis, Microphakia, Persistent pupillary membr... OMIM:617319
Hepatic Adenomas, Familial
Polycystic ovaries, Maturity-onset diabetes of the young OMIM:142330
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Glomerulonephritis, Alopecia, Arthritis, Failure to thrive, Hepatitis, Hypothyroidism, Eczema, Er... OMIM:304790
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset
Abnormal pyramidal sign, Limb ataxia, Oculomotor apraxia, Ataxia, Dysdiadochokinesis, Hypergonado... OMIM:617145
Lysinuric Protein Intolerance
Increased LDL cholesterol concentration, Glomerulonephritis, Hyperammonemia, Tubulointerstitial n... ORPHA:470
Spondyloepiphyseal Dysplasia, Kondo-Fu Type
Cataract, Small for gestational age, Posteriorly rotated ears, Short stature, Waddling gait, Macr... OMIM:618392
Chilblain Lupus
Malar rash, Inflammatory abnormality of the skin, Skin rash, Discoid lupus rash, Pruritis on hand... ORPHA:90280
Yemenite Deaf-Blind Hypopigmentation Syndrome
Severe sensorineural hearing impairment, Iris coloboma, Patchy hypo- and hyperpigmentation, Numer... OMIM:601706
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy
Nail pits, Alopecia, Ridged nail, Nail dystrophy OMIM:601705
Parkinsonism-Dystonia 1, Infantile-Onset
Hyperkinetic movements, Limb dystonia, Abnormal pyramidal sign, Parkinsonism, Cogwheel rigidity, ... OMIM:613135
Microphthalmia With Limb Anomalies
Hip dislocation, Short tibia, Toe syndactyly, Broad thumb, Tibial bowing, Foot oligodactyly, Post... ORPHA:1106
Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness
Cataract, Coxa valga, Genu valgum, Epiphyseal dysplasia, Short phalanx of finger, Brachydactyly OMIM:132450
Dermoids Of Cornea
Corneal opacity OMIM:304730
Cataract 11, Multiple Types
Cataract, Developmental cataract OMIM:610623
Chorea, Remitting, With Nystagmus And Cataract
Cataract OMIM:601372
Monilethrix
Nail dysplasia, Brittle hair, Alopecia, Abnormality of hair texture, Nail dystrophy, Sparse hair,... OMIM:158000
Epilepsy, Familial Adult Myoclonic, 4
Tremor, Myoclonus OMIM:615127
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures
Falls, Ataxia, Bruxism, Chorea, Abnormal repetitive mannerisms, Dystonia OMIM:619150
Ichthyosis, Congenital, Autosomal Recessive 2
Hypohidrosis, Erythema, Alopecia, Small nail, Thin nail, Palmoplantar keratoderma, Anhidrosis, Gr... OMIM:242100
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Abnormal repetitive mannerisms, Tremor, Broad-based gait, Small nail OMIM:619470
Congenital Disorder Of Glycosylation, Type If
Ataxia, Dry skin, Scaling skin, Failure to thrive, Hyperkeratosis, Erythroderma OMIM:609180
Alopecia-Intellectual Disability Syndrome 4
Alopecia, Bilateral cryptorchidism, Erythroderma OMIM:618840
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Hip dislocation, Proximal placement of thumb, Short metatarsal, Preaxial foot polydactyly, Toe sy... OMIM:609945
Mucous Membrane Pemphigoid
Corneal opacity ORPHA:46486
Spinocerebellar Ataxia Type 37
Cogwheel rigidity, Dysdiadochokinesis, Tremor, Limb dysmetria, Myoclonus, Truncal ataxia ORPHA:363710
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Delayed puberty, Increased size of the clitoris, Abnormal metacarpophalangeal joint morphology, A... ORPHA:95699
Microphthalmia, Isolated, With Coloboma 3
Cataract, Iris coloboma OMIM:610092
Systemic Lupus Erythematosus 17
Malar rash, Optic neuritis, Alopecia, Chorea, Myelitis OMIM:301080
Stuve-Wiedemann Syndrome 1
Clubbing, Absent patellar reflexes, Contracture of the proximal interphalangeal joint of the 5th ... OMIM:601559
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Partial albinism, Hypopigmentation of hair, Short stature ORPHA:90023
Upper Limb Defect-Eye And Ear Abnormalities Syndrome
Cataract, Short metacarpal, Short thumb ORPHA:2489
Ectodermal Dysplasia-Syndactyly Syndrome 1
Pili torti, Patchy alopecia, Alopecia, Absent facial hair, Small nail, Coarse hair, Hypoplastic t... OMIM:613573
Familial Hyperaldosteronism Type Ii
Adrenal hyperplasia, Abnormal circulating renin, Glucocortocoid-insensitive primary hyperaldoster... ORPHA:404
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Keratoconjunctivitis, Cataract, Alopecia universalis, Nail dystrophy, Chronic active hepatitis, V... OMIM:240300
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Albinism, Short stature, Hypopigmentation of the skin, Hypopigmentation of hair, Pallor ORPHA:2786
Trichothiodystrophy
Protruding ear, Brittle hair, Keratoconjunctivitis sicca, Fragile nails, Sparse scalp hair, Crypt... ORPHA:33364
Baralle-Macken Syndrome
Cataract, Inability to walk, Cafe-au-lait spot, Striae distensae, Hirsutism, Dystonia, Obesity OMIM:619255
Chilblain Lupus 1
Chilblains, Abnormality of the nail, Skin ulcer OMIM:610448
Congenital Lethal Erythroderma
Dry skin, Congenital exfoliative erythroderma, Failure to thrive, Hypoalbuminemia ORPHA:1954
Glaucoma 3, Primary Congenital, D
Primary congenital glaucoma, Ectopia lentis, Corneal opacity OMIM:613086
Ectodermal Dysplasia 15, Hypohidrotic/Hair Type
Sparse body hair, Hypohidrosis, Dry skin, Blepharitis, Pruritus, Slow-growing hair, Palmoplantar ... OMIM:618535
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Absence of renal corticomedullary differentiation, Polycystic kidney dysplasia, Enlarged kidney, ... OMIM:263200
Skin fragility-woolly hair syndrome
Nail dystrophy, Palmoplantar erythema, Palmoplantar scaling skin, Alopecia, Failure to thrive, Wo... OMIM:607655
Hypotrichosis Simplex Of The Scalp
Atopic dermatitis, Abnormal eyelash morphology, Abnormal eyebrow morphology, Parakeratosis, Abnor... ORPHA:90368
Dermatitis, Atopic
Cataract, Atopic dermatitis, Facial erythema, Dry skin, Pruritus, Recurrent skin infections, Kera... OMIM:603165
Endocrine-Cerebroosteodysplasia
Hyperechogenic kidneys, Enlarged kidney, Preaxial polydactyly, Postaxial polydactyly, Microphallu... OMIM:612651
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Increased circulating androstenedione concentration, Premature adrenarche, Abnormal labia majora ... ORPHA:90791
Sialidosis Type 2
Ataxia, Short stature, Hearing impairment, Tremor, Corneal opacity ORPHA:87876
Mucoepithelial Dysplasia, Hereditary
Keratoconjunctivitis, Cataract, Nail dysplasia, Chronic monilial nail infection, Follicular hyper... OMIM:158310
Ophthalmomandibulomelic Dysplasia
Megalocornea, Coxa valga, Mesomelia, Opacification of the corneal stroma, Radial bowing, Fibular ... OMIM:164900
Developmental And Epileptic Encephalopathy 58
Abnormal repetitive mannerisms, Inability to walk OMIM:617830
Aniridia And Absent Patella
Cataract, Aplasia/Hypoplasia of the patella, Aniridia OMIM:106220
Hereditary Mucoepithelial Dysplasia
Cataract, Fine hair, Alopecia, Corneal dystrophy, Sparse hair, Hyperkeratosis ORPHA:1839
Mietens Syndrome
Cataract, Abnormality of fibula morphology, Hip dislocation, Hip dysplasia, Avascular necrosis of... ORPHA:2557
Microcephalic Osteodysplastic Dysplasia, Saul-Wilson Type
Cataract, Short palm, Small hand, Talipes equinovarus, Hypoplasia of the odontoid process, Cone-s... ORPHA:85172
Congenital Heart Defect-Round Face-Developmental Delay Syndrome
Hypopigmentation of hair, Generalized hyperpigmentation, Short stature ORPHA:1355
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Cataract, Long foot, Camptodactyly, Abnormal femoral torsion, Bifid ureter, Enlarged kidney, Asti... ORPHA:500095
Hypomelanosis Of Ito
Cataract, Iris coloboma, Macular hypopigmented whorls, streaks, and patches, Alopecia OMIM:300337
Hypohidrotic Ectodermal Dysplasia
Abnormal hair quantity, Hypohidrosis, Irregular hyperpigmentation, Trichorrhexis nodosa, Abnormal... ORPHA:238468
Gomez-Lopez-Hernandez Syndrome
Low-set ears, Ataxia, Posteriorly rotated ears, Short stature, Alopecia, Decreased response to gr... OMIM:601853
Genetic Hyperferritinemia Without Iron Overload
Cataract, Abnormal transferrin saturation, Fragile nails, Increased circulating ferritin concentr... ORPHA:254704
Intellectual Developmental Disorder, Autosomal Dominant 7
Small for gestational age, Gait disturbance, Ataxia, Abnormal pinna morphology, Failure to thrive... OMIM:614104
Acheiropodia
Aplasia of the ulna, Short humerus, Absent hand, Abnormal metaphysis morphology, Absent radius, A... ORPHA:931
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome
Low-set, posteriorly rotated ears, Hypohidrosis, Severe short stature, Abnormal toenail morpholog... ORPHA:1005
Autosomal Dominant Polycystic Kidney Disease
Recurrent urinary tract infections, Stage 5 chronic kidney disease, Enlarged kidney, Abnormal uri... ORPHA:730
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Increased circulating androstenedione concentration, Increased serum testosterone level, Decrease... OMIM:202010
Chanarin-Dorfman Syndrome
Subcapsular cataract, Ataxia, Alopecia, Sensorineural hearing impairment, Microtia OMIM:275630
Chromosome 2Q37 Deletion Syndrome
Stereotypical hand wringing, Short stature, Pain insensitivity, Highly arched eyebrow, Sensorineu... OMIM:600430
Hyperphenylalaninemia, Bh4-Deficient, C
Tremor, Myoclonus, Hypertonia, Choreoathetosis, Dystonia OMIM:261630
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Cataract, Chronic tubulointerstitial nephritis, Proteinuria, Glomerulonephritis, Stage 5 chronic ... OMIM:614376
Diaphanospondylodysostosis
Enlarged kidney, Cystic renal dysplasia, Horseshoe kidney, Missing ribs, Micrognathia, Nephroblas... OMIM:608022
Smith-Magenis syndrome
Abnormal repetitive mannerisms, Short stature DECIPHER:8
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome
Polycystic ovaries, Precocious puberty, Aplasia of the phalanges of the 3rd toe, Hypergonadotropi... ORPHA:2229
Congenital Rubella Syndrome
Cataract, Skin rash, Intrauterine growth retardation, Short stature, Abnormality of retinal pigme... ORPHA:290
Glut1 Deficiency Syndrome 2
Reticulocytosis, Ataxia, Hemolytic anemia, Splenomegaly, Tremor, Choreoathetosis, Dystonia OMIM:612126
Waardenburg Syndrome Type 2
Hypopigmented skin patches, Premature graying of hair, Hearing impairment, Hypopigmentation of ha... ORPHA:895
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Spastic gait, Spastic tetraplegia, Parkinsonism, Ataxia, Babinski sign, Pes cavus, Apraxia, Tremo... OMIM:300055
Bresek Syndrome
Low-set ears, Cryptorchidism, Decreased testicular size, Iris coloboma, Protruding ear, Intrauter... ORPHA:85284
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities
Abnormal repetitive mannerisms OMIM:617787
Hyperprolinemia, Type I
Abnormal repetitive mannerisms, Hyperprolinemia, Ataxia OMIM:239500
Renal-Hepatic-Pancreatic Dysplasia 2
Enlarged kidney, Hepatomegaly, Talipes equinovarus, Femoral bowing, Cystic renal dysplasia OMIM:615415
Griscelli Syndrome, Type 2
Accumulation of melanosomes in melanocytes, Hypopigmentation of the skin, Melanin pigment aggrega... OMIM:607624
Cdkl5-Deficiency Disorder
Impaired pain sensation, Stereotypical hand wringing, Gait disturbance, Difficulty walking, Synop... ORPHA:505652
Albinism, Oculocutaneous, Type Iv
Blue irides, Hypopigmentation of hair, Albinism OMIM:606574
Exfoliation Syndrome
Cataract, Mydriasis, Phakodonesis, Abnormal lens morphology, Iris hypoperfusion, Anisocoria, Pigm... OMIM:177650
Epilepsy, Familial Adult Myoclonic, 5
Tremor, Myoclonus OMIM:615400
Senior-Loken Syndrome
Cataract, Stage 5 chronic kidney disease, Chronic kidney disease, Nephronophthisis, Cone-shaped e... ORPHA:3156
Immunodeficiency, Common Variable, 12, With Autoimmunity
Alopecia, Pyoderma gangrenosum, Atrophic gastritis, Recurrent skin infections, Recurrent pneumoni... OMIM:616576
Familial Hyperaldosteronism Type I
Adrenal hyperplasia, Abnormal circulating renin, Dexamethasone-suppressible primary hyperaldoster... ORPHA:403
Juvenile Sialidosis Type 2
Cataract, Low-set ears, Ataxia, Loss of ambulation, Generalized hypertrichosis, Hearing impairmen... ORPHA:93399
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Ataxia, Abnormality of extrapyramidal motor function, Tremor, Gait ataxia, Myoclonus, Babinski sign OMIM:615362
Rapp-Hodgkin Syndrome
Hypohidrosis, Onychogryposis, Uncombable hair, Fine hair, Supernumerary nipple, Dry skin, Short s... OMIM:129400
Woolly Hair Nevus
Woolly scalp hair, Patchy hypopigmentation of hair, Congenital posterior occipital alopecia, Curl... ORPHA:79414
Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement
Limb dystonia, Torticollis, Hand tremor, Blepharospasm, Upper limb postural tremor, Oromandibular... ORPHA:420485
Bent Bone Dysplasia Syndrome 2
Short 1st metacarpal, Short lower limbs, Micropenis, Short ribs, Short tibia, Hypoplastic acetabu... OMIM:620076
Proliferating Trichilemmal Cyst
Skin ulcer, Sparse scalp hair ORPHA:492
Smith-Magenis Syndrome
Impaired pain sensation, Head-banging, Synophrys, Short stature, Hearing impairment, Hypertriglyc... OMIM:182290
Autism, Susceptibility To, X-Linked 3
Abnormal repetitive mannerisms OMIM:300496
Autism, Susceptibility To, X-Linked 1
Abnormal repetitive mannerisms OMIM:300425
Dilution, Pigmentary
Hypopigmentation of the skin, Hypopigmentation of hair, Iris hypopigmentation OMIM:126070
Chronic Actinic Dermatitis
Late onset atopic dermatitis, Hypopigmented skin patches, Pruritus, Allergic rhinitis, Eczema, Pr... ORPHA:330064
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Calf muscle hypertrophy, Testicular atrophy, Fasciculations, Tremor OMIM:313200
Kid Syndrome
Onychogryposis, Keratoconjunctivitis sicca, Punctate keratitis, Trichilemmoma, Prelingual sensori... ORPHA:477
Pontocerebellar Hypoplasia, Type 11
Limb ataxia, Inability to walk, Ataxia, Difficulty walking, Short stature, Macrotia, Abnormal rep... OMIM:617695
Bjornstad Syndrome
Brittle hair, Hair shafts flattened at irregular intervals and twisted through 180 degrees about ... OMIM:262000
Intellectual Developmental Disorder, Autosomal Recessive 58
Short stature, Abnormal repetitive mannerisms, Choreoathetosis OMIM:617270
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
Low-set ears, Protruding ear, Bruxism, Short stature, Tremor, Highly arched eyebrow, Sensorineura... OMIM:618342
Transketolase Deficiency
Cataract, Uveitis, Elevated circulating ribitol concentration, Hearing impairment, Seborrheic der... ORPHA:488618
Waardenburg Syndrome, Type 4A
Blue irides, Ataxia, Hypopigmented skin patches, Premature graying of hair, White eyelashes, Sens... OMIM:277580
Parkinson Disease 17
Parkinsonism, Rigidity, Tremor, Bradykinesia, Resting tremor OMIM:614203
Robin Sequence With Cleft Mandible And Limb Anomalies
Hip dislocation, Short thumb, Proximal placement of thumb, Tibial deviation of toes, Short tibia,... OMIM:268305
Squalene Synthase Deficiency
Low-set ears, Decreased LDL cholesterol concentration, Failure to thrive in infancy, Dry skin, In... OMIM:618156
Intellectual Developmental Disorder, Autosomal Recessive 39
Synophrys, Short stature, Anteverted ears, Macrotia, Abnormal repetitive mannerisms OMIM:615541
Autism
Abnormal repetitive mannerisms OMIM:209850
Autism, Susceptibility To, 8
Abnormal repetitive mannerisms OMIM:607373
Insensitivity To Pain, Congenital, With Anhidrosis
Nail dysplasia, Corneal ulceration, Recurrent corneal erosions, Corneal scarring, Pain insensitiv... OMIM:256800
Asperger syndrome susceptibility, X-linked 2
Abnormal repetitive mannerisms OMIM:300497
Asperger Syndrome, Susceptibility To, 1
Abnormal repetitive mannerisms OMIM:608638
Asperger Syndrome, Susceptibility To, 2
Abnormal repetitive mannerisms OMIM:608631
Cystinosis
Delayed puberty, Gait disturbance, Hypophosphatemia, Hypokalemia, Short stature, Failure to thriv... ORPHA:213
Tyrosinemia Type 2
Ataxia, Abnormality of the nail, Tremor, Palmoplantar keratoderma, Hyperhidrosis, Corneal opacity... ORPHA:28378
Multiple Epiphyseal Dysplasia, Lowry Type
Epiphyseal dysplasia, Flattened epiphysis, Rhizomelia, Dislocated radial head, Knee flexion contr... ORPHA:166016
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Enlarged polycystic ovaries, Enlarged kidney ORPHA:90301
Porphyria Cutanea Tarda
Hyperpigmentation in sun-exposed areas, Alopecia, Facial hypertrichosis, Onycholysis OMIM:176100
Microcephaly-Micromelia Syndrome
Oligodactyly, Forearm undergrowth, Absent radius, Missing ribs, Short tibia, Micromelia, Humerora... OMIM:251230
Radio-Tartaglia Syndrome
Low-set ears, Long eyelashes, Conductive hearing impairment, Ataxia, Synophrys, Dry skin, Low ant... OMIM:619312
Christianson Syndrome
Dystonia, Cachexia, Thick eyebrow, Gait ataxia, Macrotia, Abnormal repetitive mannerisms, Truncal... ORPHA:85278
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Cataract, Iris coloboma, Corneal opacity, Sensorineural hearing impairment, Posterior embryotoxon ORPHA:1473
Congenital Anomalies Of Kidney And Urinary Tract 3
Hydronephrosis, Ectopic kidney, Vesicoureteral reflux, Multicystic kidney dysplasia, Renal hypopl... OMIM:618270
Congenital Disorder Of Glycosylation, Type Iq
Cataract, Low-set ears, Dry skin, Failure to thrive, Cutis laxa, Hypertrichosis, Eczema, Hyperker... OMIM:612379
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Goiter, Periodic paralysis, Hyperthyroidism, Tremor, Decreased thyroid-stimulating hormone level,... OMIM:613239
Alport Syndrome 2, Autosomal Recessive
Cataract, Proteinuria, Stage 5 chronic kidney disease, Corneal erosion, Renal insufficiency, Thic... OMIM:203780
Dystonia 24
Torticollis, Blepharospasm, Limb tremor, Head tremor, Oromandibular dystonia, Arm dystonia OMIM:615034
Isolated Agammaglobulinemia
Recurrent cutaneous abscess formation, Skin rash, Short stature, Arthritis, Failure to thrive, Si... ORPHA:229717
Craniosynostosis With Fibular Aplasia
Fibular aplasia, Cryptorchidism OMIM:218550
Tetragametic Chimerism
Perineal hypospadias, Cryptorchidism, Micropenis, Blood group antigen abnormality, Ambiguous geni... ORPHA:199310
Hemiparkinsonism-Hemiatrophy Syndrome