Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

argininosuccinate synthetase 1
fold,  Ass-1,  ASS

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Not Significant
Not tested


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.

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.

Phenotype associated images not available

Human diseases caused by Ass1 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.

The table below shows human diseases associated to Ass1 by orthology or direct annotation.

Disease Similarity of
Matching phenotypes Source
Citrullinemia, Classic
Hypoargininemia, Ataxia, Hyperglutaminemia, Episodic ammonia intoxication, Hyperammonemia OMIM:215700

The table below shows human diseases predicted to be associated to Ass1 by phenotypic similarity.

Disease Similarity of
Matching phenotypes Source
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Atrichia With Papular Lesions
Generalized papillary lesions, Sparse hair OMIM:209500
Hypotrichosis 1
Sparse eyebrow, Sparse body hair, Sparse pubic hair, Sparse eyelashes, Sparse axillary hair, Spar... OMIM:605389
Hypotrichosis 4
Pili torti, Sparse eyebrow, Sparse body hair, Sparse eyelashes, Alopecia, Sparse hair OMIM:146550
Ectodermal Dysplasia 6, Hair/Nail Type
Thin toenail, Hair-nail ectodermal dysplasia, Dystrophic toenail, Alopecia, Sparse hair OMIM:614928
Carbamoyl-Phosphate Synthetase 1 Deficiency
Aminoaciduria, Hyperammonemia, Hypoargininemia, Episodic ammonia intoxication ORPHA:147
Hypotrichosis Simplex
Sparse eyebrow, Sparse body hair, Alopecia, Sparse eyelashes, Sparse scalp hair, Sparse hair ORPHA:55654
Loose Anagen Hair Syndrome
Fair hair, Sparse hair, Loose anagen hair OMIM:600628
Cerebellar Ataxia And Ectodermal Dysplasia
Ectodermal dysplasia, Sparse hair, Alopecia OMIM:212835
Hypotrichosis 11
Aplasia/Hypoplasia of the eyebrow, Sparse or absent eyelashes, Alopecia universalis, Absent axill... OMIM:615059
Ectodermal Dysplasia 9, Hair/Nail Type
Atrichia, Absent eyelashes, Nail dysplasia, Absent hair, Nail dystrophy, Ectodermal dysplasia, Sp... OMIM:614931
Hypotrichosis 13
Sparse hair, Sparse eyebrow, Woolly hair OMIM:615896
Hypotrichosis 9
Sparse body hair, Sparse scalp hair OMIM:614237
Witkop Syndrome
Small nail, Fine hair, Nail pits, Sparse hair, Concave nail, Ridged nail OMIM:189500
Hypotrichosis 14
Sparse hair, Sparse body hair OMIM:618275
Diaminoaciduria, Hyperammonemia ORPHA:90
Hyperlysinuria With Hyperammonemia
Hyperlysinemia, Dibasicaminoaciduria, Hyperammonemia, Hyperlysinuria OMIM:238750
Leukomelanoderma, Infantilism, Mental Retardation, Hypodontia, Hypotrichosis
Sparse hair OMIM:246500
Hypotrichosis 10
Sparse eyelashes, Sparse body hair, Sparse eyebrow OMIM:614238
Hypotrichosis 7
Sparse hair, Sparse eyebrow, Woolly hair, Sparse eyelashes OMIM:604379
Odonto-Onycho Dysplasia-Alopecia Syndrome
Hypoplastic toenails, Sparse eyebrow, Sparse body hair, Alopecia, Sparse hair, Abnormal fingernai... ORPHA:2722
Alopecia, Congenital
Sparse hair, Alopecia OMIM:300042
Ectodermal dysplasia, Generalized hypotrichosis OMIM:207780
Ichthyosis-Hypotrichosis Syndrome
Sparse hair ORPHA:91132
Hyperlysinemia, Cystinuria, Abnormality of circulating enzyme level, Hyperlysinuria, Elevated pla... ORPHA:3124
Trichodysplasia-Xeroderma Syndrome
Brittle hair, Coarse hair, Pili torti, Sparse eyebrow, Sparse scalp hair, Sparse body hair, Trich... ORPHA:3361
Hypotrichosis, Congenital, With Juvenile Macular Dystrophy
Reduced terminal:vellus ratio, Sparse hair, Pili torti OMIM:601553
Pulmonary Hypoplasia, Primary
Neonatal death OMIM:265430
Brittle hair, Coarse hair, Pili torti, Sparse eyebrow, Alopecia, Slow-growing hair, Sparse pubic ... OMIM:190360
Ectodermal Dysplasia 4, Hair/Nail Type
Brittle hair, Temporal hypotrichosis, Pili torti, Absent eyelashes, Hair-nail ectodermal dysplasi... OMIM:602032
Tooth Agenesis, Selective, 8
Sparse hair, Sparse eyebrow, Dry skin OMIM:617073
Episodic Ataxia, Type 1
Incoordination, Spastic gait, Elevated circulating creatine kinase concentration, Babinski sign, ... OMIM:160120
Ectodermal Dysplasia 7, Hair/Nail Type
Brittle hair, Hair-nail ectodermal dysplasia, Sparse eyebrow, Dystrophic toenail, Onycholysis, Sp... OMIM:614929
Alopecia-Epilepsy-Oligophrenia Syndrome Of Moynahan
Sparse hair, Alopecia OMIM:203600
Graham Little-Piccardi-Lassueur Syndrome
Perifollicular hyperkeratosis, Alopecia, Sparse pubic hair, Sparse axillary hair, Sparse scalp hair ORPHA:505
Woolly Hair, Autosomal Recessive 3
Fine hair, Trichorrhexis nodosa, Sparse eyelashes, Sparse scalp hair, Curly hair, Sparse hair OMIM:616760
Ornithine Transcarbamylase Deficiency
Aminoaciduria, Hyperammonemia ORPHA:664
Ectodermal Dysplasia 5, Hair/Nail Type
Absent toenail, Sparse scalp hair, Dystrophic fingernails, Hair-nail ectodermal dysplasia OMIM:614927
Hernia, Anterior Diaphragmatic
Neonatal death OMIM:306950
Hair Defect With Photosensitivity And Mental Retardation
Brittle hair, Coarse hair, Cutaneous photosensitivity, Sparse eyebrow, Sparse eyelashes, Sparse hair OMIM:234030
Hidrotic Ectodermal Dysplasia, Christianson-Fourie Type
Abnormality of the nail, Abnormal hair morphology, Sparse pubic hair, Absent eyebrow, Onychogrypo... ORPHA:1808
Hidrotic Ectodermal Dysplasia
Cobblestone-like hyperkeratosis, Absent pubic hair, Anonychia, Fine hair, Absent axillary hair, A... ORPHA:189
Sparse lateral eyebrow, Nail dysplasia, Sparse pubic hair, Trichodysplasia, Sparse eyelashes, Sca... OMIM:257960
Anonychia With Flexural Pigmentation
Abnormal hair morphology, Anonychia, Hyperkeratosis, Follicular hyperkeratosis, Alopecia of scalp... ORPHA:69125
Osteopenia And Sparse Hair
Sparse hair OMIM:259690
Epidermolysis Bullosa Simplex 6, Generalized, With Scarring And Hair Loss
Dystrophic toenail, Sparse body hair, Onychogryposis of toenails, Alopecia, Alopecia of scalp OMIM:617294
Hypotrichosis 5
Absent pubic hair, Thin eyebrow, Sparse eyelashes, Alopecia, Absent axillary hair OMIM:612841
Mitochondrial Dna Depletion Syndrome 17
Hemiballismus, Spastic tetraparesis, Cerebellar atrophy, Hepatic failure, Low plasma citrulline, ... OMIM:618567
Ectrodactyly And Ectodermal Dysplasia Without Cleft Lip/Palate
Ectodermal dysplasia, Sparse hair OMIM:129810
Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis
Palmoplantar hyperkeratosis, Spastic paraplegia, Tremor OMIM:309560
Epidermolysis Bullosa With Diaphragmatic Hernia
Neonatal death OMIM:226735
Lissencephaly 1
Agyria, Spastic tetraparesis, Cerebellar hypoplasia, Gray matter heterotopia, Subcortical band he... OMIM:607432
Hypotrichosis 6
Brittle hair, Pili torti, Erythema, Sparse eyebrow, Sparse eyelashes, Sparse hair OMIM:607903
Insulin-Resistance Syndrome Type A
Hyperkeratosis, Generalized hirsutism ORPHA:2297
Porokeratosis Plantaris Palmaris Et Disseminata
Generalized abnormality of skin, Palmoplantar hyperkeratosis, Porokeratosis, Hyperkeratotic papule ORPHA:737
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay
Cerebellar hypoplasia, Ataxia, Tremor OMIM:213000
Stillbirth OMIM:265880
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Spastic tetraparesis, Gray matter heterotopia, Simplified gyral pattern, Lissencephaly, Pachygyri... OMIM:604317
Ectodermal Dysplasia 10A, Hypohidrotic/Hair/Nail Type, Autosomal Dominant
Nail dysplasia, Sparse eyebrow, Fine hair, Slow-growing hair, Ectodermal dysplasia, Sparse eyelas... OMIM:129490
Lethal Congenital Contracture Syndrome 3
Neonatal death OMIM:611369
Schopf-Schulz-Passarge Syndrome
Small nail, Apocrine hidrocystoma, Narrow nail, Sparse hair, Onycholysis, Thin nail, Ectodermal d... OMIM:224750
Spinocerebellar Ataxia 43
Cerebellar vermis atrophy, Ataxia, Gait ataxia, Rigidity, Limb ataxia, Tremor OMIM:617018
Optic Atrophy 2
Babinski sign, Tremor, Dysdiadochokinesis OMIM:311050
Angioma Serpiginosum, X-Linked
Sparse hair, Fine hair, Nail dystrophy OMIM:300652
Multiple Carboxylase Deficiency
Spastic paraparesis, Ataxia, Abnormal enzyme/coenzyme activity, Decreased biotinidase level, Alop... ORPHA:148
Primary Dystonia, Dyt13 Type
Torsion dystonia, Action tremor, Dystonia, Focal dystonia, Motor stereotypy, Generalized dystonia... ORPHA:98807
Metabolic Crises, Recurrent, With Variable Encephalomyopathic Features And Neurologic Regression
Dystonia, Choreoathetosis, Ataxia, Elevated circulating creatine kinase concentration, Hyperammon... OMIM:618416
Developmental And Epileptic Encephalopathy 82
Spastic tetraplegia, Spastic paraparesis, Inability to walk, Hyperammonemia, Cerebellar vermis hy... OMIM:618721
Palmoplantar Keratoderma And Congenital Alopecia 2
Palmoplantar hyperkeratosis, Nail dysplasia, Sclerodactyly, Facial erythema, Nail dystrophy, Hype... OMIM:212360
Alopecia Areata 2
Patchy alopecia, Alopecia of scalp, Alopecia totalis, Alopecia universalis OMIM:610753
Eyebrows, Duplication Of, With Stretchable Skin And Syndactyly
Periorbital wrinkles, Partial duplication of eyebrows, Long eyelashes OMIM:227210
Hypotrichosis 8
Fair hair, Woolly hair, Coarse hair, Sparse eyebrow, Nail pits, Sparse eyelashes, Sparse axillary... OMIM:278150
Cortical Dysplasia, Complex, With Other Brain Malformations 3
Agyria, Spastic tetraplegia, Gray matter heterotopia, Subcortical band heterotopia, Lissencephaly... OMIM:615411
Focal Facial Dermal Dysplasia 3, Setleis Type
Aged leonine appearance, Absent lower eyelashes, Low anterior hairline, Distichiasis, Sparse hair OMIM:227260
Spinocerebellar Ataxia 37
Cerebellar atrophy, Frequent falls, Ataxia, Unsteady gait, Tremor OMIM:615945
Alopecia Areata 1
Patchy alopecia, Trachyonychia, Nail pits, Alopecia universalis, Alopecia totalis OMIM:104000
Hyperinsulinemic Hypoglycemia, Familial, 6
Asymptomatic hyperammonemia OMIM:606762
Leukoencephalopathy, Brain Calcifications, And Cysts
Abnormal pyramidal sign, Dystonia, Ataxia, Spasticity, Hemiplegia, Gait disturbance, Abnormality ... OMIM:614561
Cortical Dysplasia, Complex, With Other Brain Malformations 4
Agyria, Spastic tetraplegia, Gray matter heterotopia, Subcortical band heterotopia, Pachygyria OMIM:615412
Neurodevelopmental Disorder With Cerebellar Hypoplasia And Spasticity
Cerebellar hypoplasia, Inability to walk, Spastic paraplegia, Periventricular nodular heterotopia OMIM:618572
Ichthyosis, Congenital, Autosomal Recessive 13
Hyperkeratosis, Palmoplantar hyperkeratosis, Hypergranulosis OMIM:617574
Brittle hair, Nail dysplasia, Nail dystrophy, Abnormality of hair texture, Alopecia, Sparse hair OMIM:158000
Parana Hard Skin Syndrome
Hyperkeratosis, Generalized hirsutism, Thickened skin ORPHA:2812
Spinocerebellar Ataxia Type 15/16
Cerebellar atrophy, Action tremor, Head tremor, Ataxia, Gait ataxia, Tremor by anatomical site, U... ORPHA:98769
Patent Ductus Venosus
Hypergalactosemia, Hyperammonemia OMIM:601466
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
Alopecia universalis, Abnormal eyelash morphology, Sparse body hair, Sparse scalp hair ORPHA:1008
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 3
Ataxia, Slurred speech, Tremor OMIM:613227
Acrokeratosis Verruciformis
Hyperkeratosis, Acrokeratosis, Ridged nail OMIM:101900
Episodic Ataxia With Slurred Speech
Gait ataxia, Slurred speech, Tremor ORPHA:401953
Lissencephaly 3
Agyria, Spastic tetraplegia, Gray matter heterotopia, Ataxia, Lissencephaly, Pachygyria, Polymicr... OMIM:611603
Ectodermal Dysplasia/Skin Fragility Syndrome
Ectodermal dysplasia, Scaling skin, Dystrophic fingernails, Fragile skin, Sparse hair OMIM:604536
Porokeratosis Of Mibelli
Hyperkeratosis, Cutaneous photosensitivity, Porokeratosis ORPHA:735
Pyruvate Dehydrogenase E1-Beta Deficiency
Hyperammonemia OMIM:614111
Palmoplantar Keratoderma And Woolly Hair
Woolly hair, Sparse eyebrow, Sparse body hair, Sparse eyelashes, Sparse scalp hair, Leukonychia, ... OMIM:616099
Spinocerebellar Ataxia Type 38
Gait ataxia, Cerebellar atrophy, Difficulty walking, Tremor ORPHA:423296
Woolly Hair, Hypotrichosis, Everted Lower Lip, And Outstanding Ears
Sparse hair, Woolly hair OMIM:278200
Abnormality of the nail, Patchy alopecia, Brittle hair, Abnormal eyelash morphology, Fine hair, S... ORPHA:573
Subcortical heterotopia, Cerebellar atrophy, Periventricular heterotopia, Simplified gyral patter... ORPHA:1083
Ectodermal Dysplasia, Trichoodontoonychial Type
Abnormal eyelash morphology, Abnormal toenail morphology, Aplasia/Hypoplasia of the eyebrow, Spar... ORPHA:1818
Cole Disease
Hyperkeratosis, Palmoplantar keratoderma, Hypergranulosis OMIM:615522
Argininosuccinic Aciduria
Aminoaciduria, Hyperglutaminemia, Hyperammonemia, Hypoargininemia ORPHA:23
Prematurely aged appearance, Fine hair, Telangiectasia of the skin, Skin ulcer, Excessive wrinkle... ORPHA:2500
Alopecia Universalis
Absent eyelashes, Alopecia universalis, Patchy alopecia, Absent eyebrow ORPHA:701
Premature skin wrinkling, Progeroid facial appearance OMIM:221790
Citrullinemia Type I
Hepatic failure, Elevated plasma citrulline, Ataxia, Hyperammonemia, Spasticity, Torticollis, Slu... ORPHA:247525
Spinocerebellar Ataxia Type 31
Gait ataxia, Cerebellar atrophy, Spasticity, Tremor ORPHA:217012
Leukoencephalopathy with metaphyseal chondrodysplasia
Babinski sign, Spastic paraplegia, Tremor, Gait disturbance OMIM:300660
Spinocerebellar Ataxia 34
Abnormal pyramidal sign, Cerebellar atrophy, Intention tremor, Fasciculations, Ataxia, Hyperkerat... OMIM:133190
Keratoderma Hereditarium Mutilans With Ichthyosis
Palmoplantar keratoderma, Orthokeratosis, Parakeratosis, Palmoplantar hyperkeratosis, Honeycomb p... ORPHA:79395
Spinocerebellar Ataxia Type 37
Dysdiadochokinesis, Cerebellar vermis atrophy, Diffuse cerebellar atrophy, Cogwheel rigidity, Gai... ORPHA:363710
Hypotrichosis And Recurrent Skin Vesicles
Sparse eyebrow, Sparse body hair, Sparse eyelashes, Sparse axillary hair, Sparse scalp hair, Leuk... OMIM:613102
Pyruvate Dehydrogenase E3 Deficiency
Elevated plasma branched chain amino acids, Hepatic failure, Hyperisoleucinemia, Decreased plasma... ORPHA:2394
Mitochondrial Complex Iii Deficiency, Nuclear Type 5
Elevated circulating suberic acid concentration, Elevated circulating fumarate concentration, Inc... OMIM:615160
Cutis Laxa, Autosomal Dominant 2
Premature skin wrinkling, Cutis laxa OMIM:614434
Dyskeratosis Congenita, Autosomal Recessive 6
Cerebellar hypoplasia, Ataxia, Nail dystrophy, Alopecia, Sparse hair OMIM:616353
3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome
Cerebellar atrophy, Dystonia, Inability to walk, Spasticity, Abnormality of extrapyramidal motor ... OMIM:614739
Epidermolysis Bullosa Simplex 4, Localized Or Generalized Intermediate, Autosomal Recessive
Hyperkeratosis, Fragile skin OMIM:615028
Hyperkeratosis-Hyperpigmentation Syndrome
Hyperkeratosis, Cutaneous photosensitivity ORPHA:1336
Erythrokeratodermia Variabilis Et Progressiva 5
Hyperkeratosis, Palmoplantar hyperkeratosis OMIM:617756
Woolly Hair
Hypopigmentation of hair, Brittle hair, Woolly hair, Sparse lateral eyebrow, Fine hair, Slow-grow... ORPHA:170
Lipoid Proteinosis Of Urbach And Wiethe
Patchy alopecia, Thickened skin OMIM:247100
Trichoodontoonychial Dysplasia With Bone Deficiency
Supernumerary nipple, Nail dysplasia, Nail dystrophy, Ectodermal dysplasia, Sparse hair OMIM:275450
Primary Orthostatic Tremor
Abnormality of extrapyramidal motor function, Tremor ORPHA:238606
Palmoplantar Keratoderma, Nonepidermolytic, Focal 2
Hyperkeratosis, Palmoplantar keratoderma OMIM:616400
Neuronopathy, Distal Hereditary Motor, Type Viia
Vocal cord paresis, Vocal cord paralysis, Difficulty walking, Tremor OMIM:158580
Teeth, Congenital Absence Of, With Taurodontia And Sparse Hair
Sparse hair OMIM:272980
Hereditary Palmoplantar Keratoderma, Gamborg-Nielsen Type
Diffuse palmoplantar hyperkeratosis, Hyperkeratosis with erythema ORPHA:86923
Palmoplantar Keratoderma, Norrbotten Recessive Type
Hyperkeratosis, Palmoplantar keratoderma OMIM:244850
Spinocerebellar Ataxia, Autosomal Recessive 16
Cerebellar atrophy, Cerebellar hypoplasia, Tremor, Unsteady gait, Limb ataxia, Spasticity, Trunca... OMIM:615768
Palmoplantar Keratoderma, Punctate Type Iii
Hyperkeratosis, Acrokeratosis OMIM:101850
Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome
Generalized hyperkeratosis, Absent pubic hair, Sparse eyebrow, Cutis laxa, Unsteady gait, General... ORPHA:2269
Sjogren-Larsson-Like Ichthyosis Without Cns Or Eye Involvement
Hyperkeratosis, Congenital ichthyosiform erythroderma OMIM:270220
Hyperkeratosis, Thickened skin ORPHA:1659
Lissencephaly, X-Linked, 1
Agyria, Gray matter heterotopia, Ataxia, Lissencephaly, Pachygyria, Spasticity OMIM:300067
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome
Onychogryposis of fingernail, Urticaria, Ridged fingernail, Fingernail dysplasia, Alopecia, Spars... ORPHA:2251
Spinocerebellar Ataxia Type 12
Abnormal pyramidal sign, Action tremor, Parkinsonism, Cerebellar atrophy, Intention tremor, Brady... ORPHA:98762
3-Methylcrotonyl-Coa Carboxylase Deficiency
Abnormal circulating leucine concentration, Hyperammonemia ORPHA:6
Aquagenic Palmoplantar Keratoderma
Palmoplantar keratoderma, Excessive skin wrinkling on dorsum of hands and fingers, Orthokeratotic... ORPHA:498359
Premature skin wrinkling, Cutis laxa ORPHA:228240
Ichthyosis, Lamellar, Autosomal Dominant
Hyperkeratosis, Congenital nonbullous ichthyosiform erythroderma OMIM:146750
Flynn-Aird Syndrome
Hyperkeratosis, Alopecia of scalp, Ataxia, Alopecia OMIM:136300
Citrullinemia, Type Ii, Adult-Onset
Elevated plasma citrulline, Argininosuccinic aciduria, Hyperargininemia, Hypertriglyceridemia, Hy... OMIM:603471
Palmoplantar Keratoderma And Congenital Alopecia 1
Brittle hair, Nail dysplasia, Sparse eyebrow, Palmoplantar erythema, Alopecia, Leukonychia, Spars... OMIM:104100
Crandall Syndrome
Brittle hair, Pili torti, Aplasia/Hypoplasia of the eyebrow, Sparse body hair, Fine hair, Alopecia ORPHA:202
Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, And Facial Dysmorphism
Widow's peak, Thick eyebrow, Sparse hair OMIM:606242
Hypotrichosis 12
Aplasia/Hypoplasia of the eyebrow, Slow-growing hair, Sparse or absent eyelashes, Sparse hair, Dr... OMIM:615885
Sparse body hair, Toenail dysplasia, Ectodermal dysplasia, Trichodysplasia, Fingernail dysplasia,... ORPHA:1660
Palmoplantar Keratoderma-Deafness Syndrome
Hyperkeratosis, Palmoplantar keratoderma ORPHA:2202
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Cerebellar atrophy, Parkinsonism, Dystonia, Oromandibular dystonia, Bradykinesia, Tremor, Hyperma... ORPHA:521406
Rett Syndrome
Dystonia, Motor stereotypy, Stereotypical hand wringing, Increased serum pyruvate, Inability to w... ORPHA:778
Epidermolysis Bullosa Simplex 1C, Localized
Hyperkeratosis OMIM:131800
Hsd10 Disease, Infantile Type
Cyanosis, Spastic tetraparesis, Dystonia, Choreoathetosis, Loss of ability to walk, Poor coordina... ORPHA:391428
Dowling-Degos Disease 2
Follicular hyperkeratosis, Hyperkeratotic papule OMIM:615327
Granddad Syndrome
Abnormal hair morphology, Progeroid facial appearance, Reduced subcutaneous adipose tissue OMIM:138920
Developmental And Epileptic Encephalopathy 97
Stereotypical hand wringing, Inability to walk, Tremor OMIM:619561
L-Ferritin Deficiency
Decreased circulating ferritin concentration, Alopecia OMIM:615604
Pili Torti-Onychodysplasia Syndrome
Brittle hair, Absent eyelashes, Congenital onychodystrophy, Sparse body hair, Absent eyebrow, Nai... ORPHA:2890
Autosomal Recessive Generalized Epidermolysis Bullosa Simplex
Palmoplantar hyperkeratosis, Abnormal toenail morphology, Dystrophic toenail, Absent toenail, Hyp... ORPHA:89838
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Motor stereotypy, Ataxia, Hyperglutaminemia, Paraplegia, Acute hyperammonemia, Hyperalaninemia, H... ORPHA:927
Neurodegeneration With Brain Iron Accumulation 8
Cerebellar atrophy, Dysmetria, Loss of ability to walk, Ataxia, Unsteady gait, Tremor OMIM:617917
Schöpf-Schulz-Passarge Syndrome
Aplasia/Hypoplasia of the eyebrow, Ectodermal dysplasia, Alopecia, Sparse hair, Facial telangiect... ORPHA:50944
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Babinski sign, Spasticity, Ataxia, Tremor OMIM:611105
Ichthyosis Hystrix Of Curth-Macklin
Hyperkeratosis, Diffuse palmoplantar hyperkeratosis, Ichthyosis, Nail dystrophy ORPHA:79503
Trichodental Dysplasia
Sparse hair, Brittle hair, Fine hair, Slow-growing hair OMIM:601453
Leukoencephalopathy, Progressive, With Ovarian Failure
Cerebellar atrophy, Dystonia, Apraxia, Ataxia, Spasticity, Tremor OMIM:615889
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Abnormal pyramidal sign, Hyperornithinemia, Spastic paraparesis, Decreased liver function, Poor c... OMIM:238970
Spastic tetraparesis, Hyperlysinemia, Cystinuria, Dysmetria, Opisthotonus, Hyperlysinuria, Thin e... ORPHA:2203
Trichothiodystrophy 9, Nonphotosensitive
Sparse hair, Sparse eyebrow, Tiger tail banding, Nail dystrophy OMIM:619692
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Cerebellar atrophy, Ataxia, Abnormal cerebellum morphology, Babinski sign, Abnormality of extrapy... OMIM:615362
Alopecia Totalis
Alopecia of scalp, Alopecia ORPHA:700
Spinocerebellar Ataxia Type 20
Kinetic tremor, Abnormal pyramidal sign, Cerebellar atrophy, Intention tremor, Isometric tremor, ... ORPHA:101110
Alopecia Universalis Congenita
Alopecia universalis, Alopecia OMIM:203655
Spinal Muscular Atrophy, Jokela Type
Elevated circulating creatine kinase concentration, Fasciculations, Difficulty walking, Tremor OMIM:615048
Neutropenia, Lethal Congenital, With Eosinophilia
Neonatal death OMIM:257100
Alopecia, Psychomotor Epilepsy, Pyorrhea, And Mental Subnormality
Alopecia universalis, Congenital alopecia totalis OMIM:104130
Macroepiphyseal Dysplasia With Osteoporosis, Wrinkled Skin, And Aged Appearance
Coarse hair, Reduced subcutaneous adipose tissue, Prematurely aged appearance OMIM:248010
Palmoplantar Keratoderma, Nagashima Type
Orthokeratotic hyperkeratosis, Hypergranulosis OMIM:615598
Erythrokeratodermia Variabilis
Generalized hirsutism, Abnormality of the nail, Abnormal hair morphology, Erythema, Cutaneous pho... ORPHA:317
Myoclonic-Astatic Epilepsy
Abnormal pyramidal sign, Frontal balding, Ataxia, Unsteady gait, Premature skin wrinkling, Tremor ORPHA:1942
X-Linked Non Progressive Cerebellar Ataxia
Action tremor, Frequent falls, Intention tremor, Spastic dysarthria, Cerebellar hypoplasia, Unste... ORPHA:314978
N-Acetylglutamate Synthase Deficiency
Increased level of L-glutamic acid in blood, Hyperammonemia OMIM:237310
Perifolliculitis Capitis Abscedens Et Suffodiens, Familial
Alopecia of scalp, Alopecia OMIM:260910
Migraine, Familial Hemiplegic, 1
Cerebellar atrophy, Ataxia, Hemiplegia, Hemiparesis, Tremor OMIM:141500
Isolated Lissencephaly Type 1 Without Known Genetic Defects
Agyria, Spasticity, Pachygyria, Gray matter heterotopia ORPHA:1084
Dyskinesia, Limb And Orofacial, Infantile-Onset
Hemiballismus, Frequent falls, Unsteady gait, Chorea, Hyperkinetic movements, Tremor OMIM:616921
Progeroid Syndrome, Petty Type
Generalized hirsutism, Abnormality of the nail, Brittle hair, Long eyelashes in irregular rows, P... ORPHA:2963
Mitochondrial Complex I Deficiency, Nuclear Type 33
Cerebellar hypoplasia, Spasticity, Hyperammonemia OMIM:618253
Segawa Syndrome, Autosomal Recessive
Parkinsonism, Limb dystonia, Gait ataxia, Rigidity, Abnormality of extrapyramidal motor function,... OMIM:605407
Focal Facial Dermal Dysplasia Type Iii
Prematurely aged appearance, Sparse lateral eyebrow, Abnormal hair pattern, Highly arched eyebrow... ORPHA:1807
Choroidal Atrophy-Alopecia Syndrome
Supernumerary nipple, Abnormal toenail morphology, Fine hair, Ungual fibroma, Sparse or absent ey... ORPHA:1433
Cerebral Arteriopathy, Autosomal Recessive, With Subcortical Infarcts And Leukoencephalopathy
Ataxia, Alopecia, Rigidity, Spasticity, Babinski sign, Gait disturbance, Abnormality of extrapyra... OMIM:600142
Intellectual Developmental Disorder, Fra12A Type
Hyperkeratosis OMIM:136630
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Intermediate Form
Palmar hyperkeratosis, Nail dystrophy, Hyperkeratosis, Plantar hyperkeratosis, Skin fragility wit... ORPHA:79399
Proliferating Trichilemmal Cyst
Skin ulcer, Sparse scalp hair ORPHA:492
Epidermolysis Bullosa Simplex With Mottled Pigmentation
Nail dysplasia, Palmar hyperkeratosis, Nail dystrophy, Plantar hyperkeratosis, Alopecia, Hyperker... ORPHA:79397
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Dystonia, Choreoathetosis, Chorea, Hemiplegia/hemiparesis, Hyperammonemia ORPHA:289916
Epilepsy, Progressive Myoclonic 7
Cerebellar atrophy, Ataxia, Myoclonus, Tremor OMIM:616187
Parc Syndrome
Absent eyelashes, Alopecia, Absent eyebrow OMIM:600331
Ataxia, Spastic, Childhood-Onset, Autosomal Recessive, With Optic Atrophy And Mental Retardation
Dysmetria, Tremor, Poor coordination, Abnormal cerebellum morphology, Spasticity, Clumsiness, Bab... OMIM:270500
Propionic Acidemia
Hyperammonemia ORPHA:35
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Decreased plasma total carnitine, Decreased liver function, Ataxia, Abnormal lactate dehydrogenas... ORPHA:42
Chudley-Mccullough Syndrome
Cerebellar dysplasia, Cerebellar hypoplasia, Gray matter heterotopia, Hydrocephalus, Polymicrogyria OMIM:604213
Congenital Panfollicular Nevus
Hyperkeratosis ORPHA:139414
Bazex-Dupré-Christol Syndrome
Coarse hair, Pili torti, Sparse eyebrow, Trichorrhexis nodosa, Sparse or absent eyelashes, Sparse... ORPHA:113
Mitochondrial Complex Iii Deficiency, Nuclear Type 6
Acute hepatic failure, Elevated hepatic transaminase, Hyperammonemia OMIM:615453
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement
Hemiballismus, Frequent falls, Unsteady gait, Chorea, Tremor ORPHA:494526
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 2
Cerebellar atrophy, Dysmetria, Cerebellar hypoplasia, Dysdiadochokinesis, Truncal ataxia, Aplasia... OMIM:610185
Azotemia, Familial
Azotemia OMIM:109160
Moynahan Syndrome
Hyperkeratosis, Sparse hair, Alopecia ORPHA:2574
Spinocerebellar Ataxia 20
Abnormal pyramidal sign, Action tremor, Palatal myoclonus, Gait ataxia, Limb ataxia, Postural tremor OMIM:608687
Ectodermal Dysplasia-Syndactyly Syndrome 2
Congenital bullous ichthyosiform erythroderma, Palmoplantar keratoderma, Ectodermal dysplasia, Fo... OMIM:613576
Ectodermal Dysplasia-Syndactyly Syndrome 1
Small nail, Patchy alopecia, Coarse hair, Pili torti, Hypoplastic toenails, Sparse eyebrow, Palma... OMIM:613573
Focal Facial Dermal Dysplasia Type I
Sparse lateral eyebrow, Absent eyelashes, Low anterior hairline, Distichiasis, Sparse hair ORPHA:79133
Ectodermal Dysplasia 15, Hypohidrotic/Hair Type
Sparse eyelashes, Sparse body hair, Dry skin, Slow-growing hair OMIM:618535
Neuroectodermal Melanolysosomal Disease
Premature graying of hair, Hypertonia, Hypopigmentation of hair, Cerebellar hypoplasia, Ataxia, A... ORPHA:33445
Rothmund-Thomson Syndrome, Type 1
Absent eyelashes, Absent eyebrow, Hyperkeratosis, Nail dystrophy, Thin nail, Sparse hair OMIM:618625
Congenital Disorder Of Glycosylation, Type Iq
Ichthyosis, Hyperkeratosis, Elevated hepatic transaminase, Hypertrichosis, Polymicrogyria, Cerebe... OMIM:612379
Adult Neuronal Ceroid Lipofuscinosis
Abnormal pyramidal sign, Ataxia, Spasticity, Clumsiness, Abnormality of extrapyramidal motor func... ORPHA:79262
Splenoportal Vascular Anomalies
Hyperammonemia OMIM:271500
Spinocerebellar Ataxia, Autosomal Recessive 17
Dysmetria, Cerebellar hypoplasia, Unsteady gait, Truncal ataxia, Tremor OMIM:616127
Vitamin B12-Unresponsive Methylmalonic Acidemia
Tetraparesis, Choreoathetosis, Ataxia, Paraparesis, Hyperammonemia ORPHA:27
Sabinas Brittle Hair Syndrome
Brittle hair, Nail dysplasia, Nail dystrophy, Sparse hair, Dry hair OMIM:211390
Hyperkeratosis Lenticularis Perstans
Hyperkeratosis lenticularis perstans OMIM:144150
Cerebellar Ataxia-Ectodermal Dysplasia Syndrome
Sparse hair, Fine hair ORPHA:1174
Oliver-Mcfarlane Syndrome
Long eyebrows, Sparse hair, Alopecia, Long eyelashes OMIM:275400
Angioma Serpiginosum, Autosomal Dominant
Hyperkeratosis OMIM:106050
Reticulate Acropigmentation Of Kitamura
Hyperkeratosis OMIM:615537
Papillomatosis, Confluent And Reticulated
Hyperkeratosis OMIM:167900
Spastic Ataxia 2, Autosomal Recessive
Cerebellar atrophy, Frequent falls, Dysmetria, Fasciculations, Gait ataxia, Spasticity, Head titu... OMIM:611302
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Normal pressure hydrocephalus, Kinetic tremor, Tremor, Gait disturbance OMIM:611808
Premature graying of hair, Hypopigmentation of hair, Mucosal telangiectasiae, Prematurely aged ap... ORPHA:100
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3
Cerebellar atrophy, Dysmetria, Ataxia, Steppage gait, Elevated circulating creatine kinase concen... OMIM:618387
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Abnormality of neuronal migration, Ataxia, Hydrocephalus OMIM:618709
Spinocerebellar Ataxia, Autosomal Recessive 4
Frequent falls, Dystonia, Fasciculations, Ataxia, Gait ataxia, Spasticity, Babinski sign, Myoclon... OMIM:607317
Argininosuccinic Aciduria
Brittle hair, Hypoargininemia, Elevated circulating aspartate aminotransferase concentration, Ata... OMIM:207900
Sub-Cortical Nodular Heterotopia
Abnormality of neuronal migration, Subcortical heterotopia, Spasticity, Polymicrogyria ORPHA:101029
Periventricular Heterotopia With Microcephaly, Autosomal Recessive
Periventricular heterotopia, Tetraparesis, Periventricular nodular heterotopia OMIM:608097
Hyperinsulinism-Hyperammonemia Syndrome
Asymptomatic hyperammonemia ORPHA:35878
Onychogryposis, Pedal, With Keratosis Plantaris And Coarse Hair
Onychogryposis of toenails, Sparse hair, Dry hair, Coarse hair OMIM:164680
Holocarboxylase Synthetase Deficiency
Ataxia, Hyperammonemia, Alopecia ORPHA:79242
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss
Mildly elevated creatine kinase, Tremor OMIM:614369
Erythrokeratodermia Variabilis Et Progressiva 3
Hyperkeratosis, Palmoplantar keratoderma, Erythema, Hypergranulosis OMIM:617525
Erythrokeratodermia Variabilis Et Progressiva 4
Hyperkeratosis, Congenital nonbullous ichthyosiform erythroderma, Palmoplantar hyperkeratosis, Er... OMIM:617526
Hyperphenylalaninemia, Bh4-Deficient, D
Hypertonia, Transient hyperphenylalaninemia, Tremor, Hyperphenylalaninemia OMIM:264070
Tremor OMIM:231950
Behr Syndrome
Cerebellar atrophy, Dysmetria, Ataxia, Progressive spasticity, Gait disturbance, Babinski sign, T... OMIM:210000
Peeling Skin Syndrome 5
Hyperkeratosis OMIM:617115
Erythrokeratoderma ''En Cocardes''
Hyperkeratosis ORPHA:315
Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To
Ataxia, Hyperglutaminemia, Low plasma citrulline, Episodic ammonia intoxication, Episodic ataxia,... OMIM:311250
Combined Oxidative Phosphorylation Deficiency 4
Polymicrogyria, Spasticity, Opisthotonus, Hyperammonemia OMIM:610678
Congenital Muscular Dystrophy Without Intellectual Disability
Cerebellar atrophy, Frequent falls, Cerebellar cyst, Mildly elevated creatine kinase, Gray matter... ORPHA:370980
Microcephalic Primordial Dwarfism, Montreal Type
Premature graying of hair, Prematurely aged appearance, Low posterior hairline, Alopecia of scalp... ORPHA:2617
Dystonia, Dopa-Responsive
Incoordination, Transient hyperphenylalaninemia, Dystonia, Resting tremor, Bradykinesia, Cogwheel... OMIM:128230
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5
Elevated circulating creatine kinase concentration, Gait imbalance, Hyperammonemia OMIM:618120
Primary Dystonia, Dyt27 Type
Action tremor, Focal dystonia, Axial dystonia, Limb dystonia, Laryngeal dystonia, Upper limb post... ORPHA:464440
Vitamin B12-Responsive Methylmalonic Acidemia
Hyperammonemia ORPHA:28
Syndromic X-Linked Intellectual Disability 7
Sparse body hair ORPHA:85274
Spinocerebellar Ataxia 18
Cerebellar atrophy, Dysmetria, Progressive gait ataxia, Dysdiadochokinesis, Babinski sign, Tremor OMIM:607458
Severe Combined Immunodeficiency Due To Foxn1 Deficiency
Congenital alopecia totalis, Nail pits, Ridged nail ORPHA:169095
Trichothiodystrophy 7, Nonphotosensitive
Brittle hair, Ichthyosis, Follicular hyperkeratosis, Congenital nonbullous ichthyosiform erythrod... OMIM:618546
Hidrotic Ectodermal Dysplasia, Halal Type
Absent eyelashes, Supernumerary nipple, Nail dysplasia, Abnormal toenail morphology, Sparse body ... ORPHA:1809
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type
Cerebellar atrophy, Action tremor, Parkinsonism, Apraxia, Bradykinesia, Impaired tandem gait, Rig... OMIM:300423
Spinocerebellar Ataxia, Autosomal Recessive 30
Cerebellar atrophy, Dysmetria, Increased circulating lactate dehydrogenase concentration, Increas... OMIM:619405
Hypotrichosis Simplex Of The Scalp
Parakeratosis, Fine hair, Hyperkeratosis, Scaling skin, Slow-growing scalp hair, Sparse scalp hai... ORPHA:90368
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Cerebellar atrophy, Dysmetria, Inability to walk, Rigidity, Gait disturbance, Tremor OMIM:618090
Spinocerebellar Ataxia, Autosomal Recessive 2
Incoordination, Dysmetria, Cerebellar hypoplasia, Ataxia, Unsteady gait, Gait ataxia, Spasticity,... OMIM:213200
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1
Ataxia, Hyperammonemia OMIM:604273
Glutamine Deficiency, Congenital
Neonatal death, Hypoglutaminemia, Hyperammonemia OMIM:610015
Keratoderma Hereditarium Mutilans
Abnormality of the nail, Ichthyosis, Honeycomb palmoplantar hyperkeratosis, Abnormal toenail morp... ORPHA:494
Autosomal Dominant Spastic Ataxia Type 1
Hypertonia, Spastic gait, Dystonia, Spastic dysarthria, Spastic paraplegia, Tremor, Lower limb sp... ORPHA:251282
Candidiasis, Familial, 1
Alopecia OMIM:114580
Atypical Pantothenate Kinase-Associated Neurodegeneration
Abnormal pyramidal sign, Frequent falls, Parkinsonism, Focal dystonia, Oromandibular dystonia, Li... ORPHA:216873
Band Heterotopia
Gray matter heterotopia, Subcortical band heterotopia, Spasticity, Hydrocephalus, Polymicrogyria OMIM:600348
Biotinidase Deficiency
Ataxia, Decreased biotinidase level, Hyperammonemia, Alopecia, Diffuse cerebellar atrophy OMIM:253260
Alopecia, Familial Focal
Patchy alopecia OMIM:104110
Alopecia, Androgenetic, 1
Alopecia OMIM:109200
Alopecia-Intellectual Disability Syndrome 3
Alopecia universalis OMIM:613930
Alopecia-Intellectual Disability Syndrome 2
Alopecia universalis OMIM:610422
Alopecia-Mental Retardation Syndrome 1
Alopecia universalis OMIM:203650
Lichtenstein-Knorr Syndrome
Cerebellar atrophy, Dysmetria, Action tremor, Ataxia, Gait ataxia, Dysdiadochokinesis, Limb ataxia OMIM:616291
Carbamoyl Phosphate Synthetase I Deficiency, Hyperammonemia Due To
Hypoargininemia, Ataxia, Low plasma citrulline, Episodic ammonia intoxication, Hyperammonemia OMIM:237300
Alopecia-Intellectual Disability-Hypergonadotropic Hypogonadism Syndrome
Alopecia totalis ORPHA:1014
Autosomal Dominant Cerebellar Ataxia
Action tremor, Dystonia, Progressive cerebellar ataxia, Paraparesis, Abnormality of extrapyramida... ORPHA:99
Alopecia-Mental Retardation Syndrome With Convulsions And Hypergonadotropic Hypogonadism
Woolly hair, Woolly scalp hair, Alopecia OMIM:601217
Ichthyosis, Congenital, Autosomal Recessive 2
Small nail, Palmoplantar keratoderma, Paralysis, Abnormal hair morphology, Congenital ichthyosifo... OMIM:242100
Ichthyosis, Congenital, Autosomal Recessive 1
Ichthyosis, Parakeratosis, Congenital ichthyosiform erythroderma, Palmoplantar hyperkeratosis, Na... OMIM:242300
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair
Sparse hair, Sparse eyelashes, Sparse eyebrow, Hypoplastic toenails OMIM:616901
Parkinson Disease 15, Autosomal Recessive Early-Onset
Parkinsonism, Dystonia, Bradykinesia, Lower limb spasticity, Rigidity, Scissor gait, Abnormality ... OMIM:260300
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Dystonia, Spastic tetraplegia, Elevated circulating acylcarnitine concentration, Ataxia, Poor coo... OMIM:616878
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Parkinsonism, Dystonia, Ataxia, Upper motor neuron dysfunction, Rigidity, Chorea, Myoclonus, Tremor ORPHA:401901
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Dystonia, Ataxia, Chorea, Torticollis, Hyperkinetic movements, Tremor OMIM:618425
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Cerebellar atrophy, Ataxia, Tremor OMIM:617862
Renal Failure, Progressive, With Hypertension
Elevated circulating creatinine concentration OMIM:161900
Keratosis Linearis With Ichthyosis Congenita And Sclerosing Keratoderma
Ichthyosis, Parakeratosis, Honeycomb palmoplantar hyperkeratosis, Nail dystrophy, Congenital nonb... OMIM:601952
Severe Intellectual Disability And Progressive Spastic Paraplegia
Progressive spastic paraplegia, Cerebellar atrophy, Dystonia, Motor stereotypy, Spastic dysarthri... ORPHA:280763
Nicolaides-Baraitser Syndrome
Long eyelashes, Abnormal hair pattern, Highly arched eyebrow, Curly eyelashes, Alopecia, Sparse h... ORPHA:3051
Craniofaciofrontodigital Syndrome
Prominent superficial veins, Palmoplantar cutis laxa, Congenital, generalized hypertrichosis, Cut... ORPHA:363705
Cutis Laxa, Autosomal Recessive, Type Iiib
Dermal translucency, Fine hair, Cutis laxa, Sparse hair, Excessive wrinkled skin OMIM:614438
Periventricular Nodular Heterotopia 6
Gray matter heterotopia, Periventricular nodular heterotopia OMIM:615544
Olmsted Syndrome, X-Linked
Palmoplantar keratoderma, Parakeratosis, Palmoplantar hyperkeratosis, Hyperkeratosis, Alopecia to... OMIM:300918
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Elevated circulating alanine aminotransferase concentration, Decreased plasma total carnitine, El... OMIM:608836
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome
Incoordination, Dystonia, Elevated circulating acylcarnitine concentration, Involuntary movements... ORPHA:480864
Ectodermal Dysplasia, Trichoodontoonychial Type
Ectodermal dysplasia, Sparse hair, Absent nipple OMIM:129510
Ectodermal Dysplasia 11A, Hypohidrotic/Hair/Tooth Type, Autosomal Dominant
Absent nipple, Absent hair, Hypohidrotic ectodermal dysplasia, Sparse hair, Dry skin OMIM:614940
Marie Unna Hereditary Hypotrichosis
Coarse hair, Aplasia/Hypoplasia of the eyebrow, Alopecia, Sparse or absent eyelashes, Sparse scal... ORPHA:444
Thumb Deformity And Alopecia
Alopecia OMIM:188150
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Small nail, Spastic tetraparesis, Simplified gyral pattern, Hydrocephalus, Broad-based gait, Tremor OMIM:619470
Clouston Syndrome
Small nail, Absent pubic hair, Brittle hair, Palmoplantar hyperkeratosis, Nail dysplasia, Sparse ... OMIM:129500
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Increased circulating lactate dehydrogenase concentration, Elevated gamma-glutamyltransferase lev... ORPHA:247598
Epidermolytic Palmoplantar Keratoderma
Epidermal hyperkeratosis, Diffuse palmoplantar hyperkeratosis, Palmoplantar hyperkeratosis, Palma... ORPHA:2199
Parkinson Disease 19A, Juvenile-Onset
Abnormal pyramidal sign, Parkinsonism, Dystonia, Shuffling gait, Bradykinesia, Rigidity, Spastici... OMIM:615528
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency
Cerebellar atrophy, Hand tremor, Cerebellar hypoplasia, Head tremor, Oculomotor apraxia, Alopecia... ORPHA:412057
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Dystonia, Choreoathetosis, Hyperammonemia ORPHA:79312
Filippi Syndrome
Cerebellar atrophy, Dystonia, Frontal hirsutism, Hypertrichosis, Sparse hair OMIM:272440
Hypotrichosis-Intellectual Disability, Lopes Type
Sparse hair ORPHA:2266
Propionic Acidemia
Dystonia, Hyperglycinuria, Limb hypertonia, Propionyl-CoA carboxylase deficiency, Hyperglycinemia... OMIM:606054
Spinocerebellar Ataxia 23
Cerebellar atrophy, Dysmetria, Gait ataxia, Limb ataxia, Babinski sign, Tremor OMIM:610245
Porphyria Cutanea Tarda
Facial hypertrichosis, Scleroderma, Onycholysis, Alopecia OMIM:176100
Myopathy, Spheroid Body
Elevated circulating creatine kinase concentration, Waddling gait, Broad-based gait, Tremor OMIM:182920
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis
Palmoplantar keratoderma, Ichthyosis, Woolly hair, Parakeratosis, Erythema, Nail dystrophy, Hyper... OMIM:615821
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment
Elevated circulating creatinine concentration OMIM:242530
Epidermolysis Bullosa Dystrophica, Pretibial
Hyperkeratosis, Nail dystrophy OMIM:131850
Classic Mycosis Fungoides
Abnormality of the nail, Erythema, Hyperkeratosis, Alopecia, Skin ulcer, Dry skin ORPHA:2584
Paralysis Agitans, Juvenile, Of Hunt
Parkinsonism, Dystonia, Bradykinesia, Rigidity, Gait disturbance, Tremor OMIM:168100
Olmsted Syndrome 2
Palmoplantar keratoderma, Woolly hair, Parakeratosis, Palmoplantar hyperkeratosis, Hyperkeratosis... OMIM:619208
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Elevated circulating creatine kinase concentration, Increased circulating lactate dehydrogenase c... OMIM:600649
Spinocerebellar Ataxia Type 14
Cerebellar vermis atrophy, Gait ataxia, Progressive cerebellar ataxia, Rigidity, Limb ataxia, Myo... ORPHA:98763
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Limb ataxia, Truncal ataxia, Hyperalaninemia, Hyperammonemia OMIM:619051
Transaldolase Deficiency
Telangiectasia, Premature skin wrinkling, Increased serum bile acid concentration, Abnormal circu... ORPHA:101028
Intellectual Developmental Disorder, Autosomal Recessive 6
Involuntary movements, Dystonia, Myoclonus, Tremor OMIM:611092
Encephalopathy, Progressive, With Or Without Lipodystrophy
Tetraparesis, Abnormal pyramidal sign, Dystonia, Ataxia, Spasticity, Hypertriglyceridemia, Myoclo... OMIM:615924
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency
Opisthotonus, Propionyl-CoA carboxylase deficiency, Acute hyperammonemia, Alopecia, Hyperglycinuria OMIM:210210
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Decreased plasma carnitine, Hyperuricemia, Spasticity, Myoclonus, Pallor, Hyperammonemia OMIM:246450
Spinocerebellar Ataxia, Autosomal Recessive 21
Cerebellar atrophy, Frequent falls, Hepatic failure, Ataxia, Gait ataxia, Spasticity, Tremor OMIM:616719
Kerion Celsi
Alopecia ORPHA:499
Pyruvate Carboxylase Deficiency
Hypernatremia, Abnormal pyramidal sign, Hypertaurinemia, Hyperlysinemia, Dystonia, Hyperprolinemi... ORPHA:3008
Trichothiodystrophy 5, Nonphotosensitive
Brittle hair, Cutis marmorata, Cutaneous photosensitivity, Progeroid facial appearance, Slow-grow... OMIM:300953
Diaminoaciduria, Cerebellar atrophy, Spastic gait, Frequent falls, Spastic paraparesis, Hyperargi... OMIM:207800
Foxg1 Syndrome
Dystonia, Choreoathetosis, Motor stereotypy, Stereotypical hand wringing, Inability to walk, Pach... ORPHA:561854
Sparse hair, Fine hair ORPHA:2118
Bathing Suit Ichthyosis
Ichthyosis, Parakeratosis, Palmoplantar hyperkeratosis, Nail dystrophy, Scaling skin, Alopecia, C... ORPHA:100976
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits
Dysmetria, Dystonia, Cerebellar hypoplasia, Inability to walk, Ataxia, Spasticity, Oculomotor apr... OMIM:618087
Bullous Dystrophy, Hereditary Macular Type
Abnormality of the nail, Alopecia totalis OMIM:302000
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Brittle hair, Nail dysplasia, Sparse eyebrow, Abnormality of hair texture, Ectodermal dysplasia, ... OMIM:225060
Acquired Ichthyosis
Palmoplantar keratoderma, Ichthyosis, Erythema, Hyperkeratosis, Dry skin ORPHA:454
Infantile Neuronal Ceroid Lipofuscinosis
Cerebellar atrophy, Dysmetria, Dystonia, Myoclonic spasms, Ataxia, Unsteady gait, Abnormal enzyme... ORPHA:79263
Spinocerebellar Ataxia, Autosomal Recessive 13
Abnormal pyramidal sign, Dysmetria, Cerebellar atrophy, Dilated fourth ventricle, Retrocerebellar... OMIM:614831
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hepatic failure, Decreased plasma total carnitine, Hyperlipidemia, Elevated circulating acylcarni... ORPHA:228308
Symmetrical Thalamic Calcifications
Ataxia, Spasticity, Abnormality of neuronal migration, Hypertonia ORPHA:1314
Alopecia Antibody Deficiency
Abnormal eyelash morphology, Aplasia/Hypoplasia of the eyebrow, Sparse body hair, Sparse hair ORPHA:1006
Hyponatremia, Ataxia, Cutis laxa, Premature skin wrinkling, Abnormality of subcutaneous fat tissu... ORPHA:79325
Spinocerebellar Ataxia 12
Cerebellar atrophy, Dysmetria, Action tremor, Parkinsonism, Axial dystonia, Head tremor, Progress... OMIM:604326
Trichothiodystrophy 8, Nonphotosensitive
Woolly hair, Spastic diplegia, Sparse eyebrow, Craniofacial dystonia, Cutis laxa, Trichorrhexis n... OMIM:619691
Ichthyosis, Congenital, Autosomal Recessive 10
Palmoplantar keratoderma, Orthokeratotic hyperkeratosis, Hyperkeratosis, Generalized ichthyosis, ... OMIM:615024
Hypogonadotropic Hypogonadism 7 With Or Without Anosmia
Sparse axillary hair, Sparse pubic hair OMIM:146110
Multiple Acyl-Coa Dehydrogenase Deficiency
Increased circulating lactate dehydrogenase concentration, Elevated circulating acylcarnitine con... ORPHA:26791
Sjögren-Larsson Syndrome
Abnormal pyramidal sign, Ichthyosis, Erythema, Urticaria, Hyperkeratosis, Spasticity, Dry skin, S... ORPHA:816
Ichthyosis, Congenital, Autosomal Recessive 11
Brittle hair, Pili torti, Congenital ichthyosiform erythroderma, Sparse eyebrow, Hyperkeratosis, ... OMIM:602400
Pilodental Dysplasia With Refractive Errors
Abnormality of the nail, Brittle hair, Ectodermal dysplasia, Sparse scalp hair, Follicular hyperk... OMIM:262020
Lower Motor Neuron Syndrome With Late-Adult Onset
Fasciculations, Inability to walk, Elevated circulating creatine kinase concentration, Tongue fas... ORPHA:276435
Acquired Partial Lipodystrophy
Generalized hirsutism, Progeroid facial appearance ORPHA:79087
Hypotrichosis-Lymphedema-Telangiectasia Syndrome
Abnormality of the nail, Absent eyelashes, Sparse hair, Absent eyebrow, Toenail dysplasia, Alopec... OMIM:607823
Atypical Rett Syndrome
Dystonia, Pill-rolling tremor, Apraxia, Loss of ability to walk, Involuntary movements, Inability... ORPHA:3095
Microphthalmia, Syndromic 8
Premature skin wrinkling OMIM:601349
Coenzyme Q10 Deficiency, Primary, 9
Cerebellar atrophy, Dysmetria, Lower limb spasticity, Ataxia, Impaired tandem gait, Myoclonus, Tr... OMIM:619028
Pseudoprogeria Syndrome
Absent eyelashes, Sparse eyebrow, Absent eyebrow, Alopecia, Sparse hair ORPHA:2985
Intermediate Generalized Junctional Epidermolysis Bullosa
Scarring alopecia of scalp, Anonychia, Sparse body hair, Nail dystrophy ORPHA:79402
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset
Abnormal pyramidal sign, Dysmetria, Dystonia, Cerebellar atrophy, Oculomotor apraxia, Ataxia, Gai... OMIM:617145
Neurodevelopmental Disorder With Hypotonia And Autistic Features With Or Without Hyperkinetic Movements
Stereotypical hand wringing, Inability to walk, Dystonia, Chorea OMIM:618760
Infantile Cataract, Skin Abnormalities, Glutamate Excess, And Impaired Intellectual Development
Hyperkeratosis OMIM:618339
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Ichthyosis, Orthokeratosis, Parakeratosis, Jaundice, Thick hair, Sparse eyelashes, Alopecia, Spar... OMIM:607626
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Abnormal pyramidal sign, Spastic gait, Hepatic failure, Hyperornithinemia, Abnormal circulating c... ORPHA:415
Infantile Liver Failure Syndrome 2
Acute hepatic failure, Hyperammonemia, Elevated hepatic transaminase, Jaundice OMIM:616483
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Dystonia, Bradykinesia, Postural tremor, Rigidity, Gait disturbance, Babinski sign, Parkinsonism ... ORPHA:314632
Parkinson Disease 2, Autosomal Recessive Juvenile
Parkinsonism, Dystonia, Bradykinesia, Rigidity, Gait disturbance, Tremor OMIM:600116
Progeroid Facial Appearance With Hand Anomalies
Sparse hair, Reduced subcutaneous adipose tissue, Progeroid facial appearance, Prominent superfic... OMIM:602249
Ectodermal Dysplasia 11B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive
Periorbital wrinkles, Sparse lateral eyebrow, Absent nipple, Sparse body hair, Hypoplastic nipple... OMIM:614941
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Eyelid myoclonus, Frequent falls, Inability to walk, Abnormal enzyme/coenzyme activity, Limb myoc... ORPHA:2590
Developmental And Epileptic Encephalopathy 32
Ataxia, Myoclonus, Tremor OMIM:616366
Ectodermal Dysplasia-Sensorineural Deafness Syndrome
Brittle hair, Coarse hair, Hyperkeratosis, Hidrotic ectodermal dysplasia, Sparse hair ORPHA:1883
Elevated circulating creatine kinase concentration, Excessive wrinkled skin, Elevated hepatic tra... ORPHA:79333
Autosomal Spastic Paraplegia Type 58
Abnormal pyramidal sign, Dysmetria, Frequent falls, Cerebellar atrophy, Titubation, Intention tre... ORPHA:397946
Carnitine Deficiency, Systemic Primary
Decreased plasma carnitine, Elevated hepatic transaminase, Hyperammonemia OMIM:212140
Dystonia 3, Torsion, X-Linked
Torsion dystonia, Chorea, Parkinsonism with favorable response to dopaminergic medication, Myoclo... OMIM:314250
Tetraamelia With Ectodermal Dysplasia And Lacrimal Duct Abnormalities
Ectodermal dysplasia, Sparse hair OMIM:273390
Olmsted Syndrome 1
Palmoplantar keratoderma, Parakeratosis, Nail dysplasia, Nail dystrophy, Alopecia universalis, Sp... OMIM:614594
Spastic Paraparesis And Deafness
Spastic paraparesis, Tremor OMIM:312910
Cardiofaciocutaneous Syndrome 2
Curly hair, Sparse hair, Fine hair, Absent eyebrow OMIM:615278
Intellectual Developmental Disorder, Autosomal Dominant 13
Spastic tetraplegia, Cerebellar hypoplasia, Pachygyria, Gait disturbance, Abnormality of neuronal... OMIM:614563
Cholestasis, Progressive Familial Intrahepatic, 5
Elevated alpha-fetoprotein, Death in infancy, Conjugated hyperbilirubinemia, Hyperammonemia OMIM:617049
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Hyponatremia, Decreased circulating renin level, Decreased serum creatinine OMIM:300539
Odontoonychodermal Dysplasia
Orthokeratosis, Erythema, Nail dysplasia, Anonychia, Fine hair, Dystrophic toenail, Sparse eyebro... OMIM:257980
Carnitine Palmitoyltransferase I Deficiency
Elevated circulating creatine kinase concentration, Transient hyperlipidemia, Elevated hepatic tr... OMIM:255120
Hypotrichosis With Juvenile Macular Degeneration
Brittle hair, Pili torti, Fine hair, Hyperkeratosis, Sparse scalp hair ORPHA:1573
Peroxisome Biogenesis Disorder 5B
Cerebellar atrophy, Dysmetria, Decreased liver function, Ataxia, Unsteady gait, Oculomotor apraxi... OMIM:614867
Palmoplantar Keratoderma I, Striate, Focal, Or Diffuse
Palmoplantar keratoderma, Streaks of hyperkeratosis along each finger onto the palm, Orthokeratot... OMIM:148700
Ichthyosis, Hystrix-Like, With Deafness
Palmoplantar keratoderma, Ichthyosis, Absent eyelashes, Scarring alopecia of scalp, Sparse eyebro... OMIM:602540
Coffin-Siris Syndrome 3
Long eyelashes, Thick eyebrow, Sparse scalp hair, Hypertrichosis, Sparse hair, Hirsutism OMIM:614608
Ectodermal Dysplasia, Hidrotic, Christianson-Fourie Type
Fair hair, Sparse scalp hair, Sparse pubic hair, Absent eyebrow, Nail dystrophy, Onychogryposis, ... OMIM:601375
Hypermanganesemia With Dystonia 2
Ankle clonus, Cerebellar atrophy, Parkinsonism, Dystonia, Opisthotonus, Generalized dystonia, Oro... OMIM:617013
Corpus Callosum, Agenesis Of, With Facial Anomalies And Cerebellar Ataxia
Long eyelashes, Cerebellar hypoplasia, Thick eyebrow, Ataxia, Low anterior hairline, Sparse hair,... OMIM:616819
Heyn-Sproul-Jackson Syndrome
Sparse hair OMIM:618724
Lessel-Kubisch Syndrome
Premature graying of hair, Sparse pubic hair OMIM:618681
Corticobasal Syndrome
Parkinsonism, Dystonia, Involuntary movements, Bradykinesia, Akinesia, Limb apraxia, Speech aprax... ORPHA:454887
Deafness-Craniofacial Syndrome
Alopecia OMIM:125230
Autosomal Dominant Hypohidrotic Ectodermal Dysplasia
Sparse hair, Abnormal fingernail morphology, Sparse body hair ORPHA:1810
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy
Death in infancy, Hyperammonemia ORPHA:1194
Lopes-Maciel-Rodan Syndrome
Abnormal pyramidal sign, Hypertonia, Dystonia, Cerebellar atrophy, Bradykinesia, Tremor, Unsteady... OMIM:617435
Ichthyosis, Congenital, Autosomal Recessive 14
Hyperkeratosis, Erythema, Scaling skin, Orthokeratotic hyperkeratosis OMIM:617571
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome
Scarring alopecia of scalp, Sparse eyebrow, Sparse body hair, Jaundice, Sparse eyelashes, Sparse ... ORPHA:59303
Ehlers-Danlos Syndrome, Beasley-Cohen Type
Excessive skin wrinkling on dorsum of hands and fingers OMIM:608763
Coenzyme Q10 Deficiency, Primary, 4
Abnormal pyramidal sign, Cerebellar atrophy, Ataxia, Myoclonus, Tremor OMIM:612016
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies
Cerebellar atrophy, Sparse hair, Alopecia OMIM:617763
Nodular Neuronal Heterotopia
Abnormality of neuronal migration ORPHA:2149
Spinocerebellar Ataxia 48
Cerebellar atrophy, Dysmetria, Dystonia, Parkinsonism, Ataxia, Gait ataxia, Chorea, Babinski sign... OMIM:618093
Holocarboxylase Synthetase Deficiency
Hypertonia, Hyperammonemia, Alopecia OMIM:253270
Peeling Skin Syndrome 4
Palmoplantar keratoderma, Ichthyosis, Orthokeratosis, Nail dystrophy, Hyperkeratosis, Scaling skin OMIM:607936
Lichen Planopilaris
Onycholysis, Hyperkeratosis, Hepatitis, Alopecia, Skin ulcer, Abnormal fingernail morphology ORPHA:525
Epilepsy, Progressive Myoclonic, 6
Ataxia, Elevated circulating creatine kinase concentration, Difficulty walking, Myoclonus, Tremor OMIM:614018
Spinocerebellar Ataxia 7
Dysmetria, Olivopontocerebellar atrophy, Progressive cerebellar ataxia, Spasticity, Chorea, Babin... OMIM:164500
Bazex Syndrome
Palmoplantar keratoderma, Parakeratosis, Nail dystrophy, Hyperkeratosis, Scaling skin, Acanthosis... ORPHA:166113
Trichohepatoenteric Syndrome 2
Brittle hair, Woolly hair, Sparse hair, Trichorrhexis nodosa, Pili canaliculi, Uncombable hair OMIM:614602
Hyperphenylalaninemia, Bh4-Deficient, C
Dystonia, Choreoathetosis, Tremor, Hyperphenylalaninemia, Myoclonus, Hypertonia OMIM:261630
Optic Atrophy 3, Autosomal Dominant
Abnormality of extrapyramidal motor function, Tremor OMIM:165300
Lmna-Related Cardiocutaneous Progeria Syndrome
Premature graying of hair, Absent eyelashes, Absent eyebrow, Alopecia universalis, Premature skin... ORPHA:363618
Localized Junctional Epidermolysis Bullosa
Atrophic, patchy alopecia, Scarring alopecia of scalp, Dystrophic toenail, Sparse pubic hair, Nai... ORPHA:251393
Alopecia-Intellectual Disability Syndrome
Ichthyosis, Aplasia/Hypoplasia of the eyebrow, Sparse body hair, Alopecia, Sparse scalp hair ORPHA:2850
Autosomal Recessive Cutis Laxa Type 2, Classic Type
Coarse hair, Prominent veins on trunk, Sparse hair, Cutis laxa, Thick hair, Abnormal subcutaneous... ORPHA:357074
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy
Ridged nail, Alopecia, Nail pits, Nail dystrophy OMIM:601705
Ichthyosis With Confetti
Hyperkeratosis, Palmoplantar hyperkeratosis, Hypertrichosis OMIM:609165
Skin Fragility-Woolly Hair Syndrome
Woolly hair, Palmoplantar hyperkeratosis, Nail dysplasia, Sparse eyebrow, Acantholysis, Nail dyst... OMIM:607655
Alpha-Methylacyl-Coa Racemase Deficiency
Spasticity, Ataxia, Tremor OMIM:614307
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Elevated circulating creatine kinase concentration, Death in infancy, Decreased plasma carnitine,... OMIM:201475
Cutis Laxa, Autosomal Dominant 3
Premature skin wrinkling, Cutis laxa OMIM:616603
Spinocerebellar Ataxia Type 27
Cerebellar atrophy, Hand tremor, Akinesia, Gait ataxia, Limb ataxia, Gait disturbance, Truncal at... ORPHA:98764
Biotinidase Deficiency
Spastic paraparesis, Ataxia, Myelopathy, Decreased biotinidase level, Alopecia, Hyperammonemia ORPHA:79241
Combined Oxidative Phosphorylation Deficiency 15
Incoordination, Abnormal pyramidal sign, Ataxia, Unsteady gait, Tremor OMIM:614947
Methylmalonic Aciduria, Cbla Type
Methylmalonic acidemia, Decreased methylmalonyl-CoA mutase activity, Hyperglycinemia, Hyperammone... OMIM:251100
Parkinson Disease 22, Autosomal Dominant
Bradykinesia, Tremor, Resting tremor, Gait disturbance OMIM:616710
Severe Neurodegenerative Syndrome With Lipodystrophy
Tetraparesis, Generalized hirsutism, Abnormal pyramidal sign, Ataxia, Reduced subcutaneous adipos... ORPHA:363400
Periventricular Nodular Heterotopia 7
Gray matter heterotopia, Periventricular nodular heterotopia OMIM:617201
Thanatophoric Dysplasia, Glasgow Variant
Neonatal death OMIM:273680
Autosomal Recessive Non-Syndromic Intellectual Disability
Dystonia, Motor stereotypy, Spasticity, Chorea, Polymicrogyria ORPHA:88616
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Long eyelashes, Motor stereotypy, Thick eyebrow, Inability to walk, Low anterior hairline, Synoph... ORPHA:411986
X-Linked Hypohidrotic Ectodermal Dysplasia
Aplasia/Hypoplasia of the eyebrow, Sparse body hair, Sparse hair ORPHA:181
Lissencephaly 5
Occipital encephalocele, Spastic paraplegia, Gray matter heterotopia, Subcortical band heterotopi... OMIM:615191
Wolcott-Rallison Syndrome
Hyponatremia, Jaundice, Acute hepatic failure, Hyperbilirubinemia, Elevated hepatic transaminase,... ORPHA:1667
Spinocerebellar Ataxia 42
Abnormal pyramidal sign, Spastic gait, Cerebellar atrophy, Ataxia, Unsteady gait, Loss of Purkinj... OMIM:616795
Hypermanganesemia With Dystonia 1
Parkinsonism, Dystonia, Spastic paraparesis, Bradykinesia, Decreased liver function, Steppage gai... OMIM:613280
Congenital Short Bowel Syndrome
Sparse hair ORPHA:2301
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma
Palmoplantar keratoderma, Alopecia, Nail dystrophy OMIM:618373
Alpha-N-Acetylgalactosaminidase Deficiency Type 1
Abnormal pyramidal sign, Hemiplegia/hemiparesis, Hyperkeratosis, Spasticity, Abnormality of extra... ORPHA:79279
Tooth Agenesis, Selective, 4
Sparse hair, Sparse eyebrow, Dry skin, Short eyelashes OMIM:150400
Ectodermal Dysplasia/Short Stature Syndrome
Hyperkeratosis, Anonychia, Nail dystrophy OMIM:616029
Bazex Syndrome
Coarse hair, Pili torti, Trichorrhexis nodosa, Trichoepithelioma, Sparse hair OMIM:301845
Basal Ganglia Calcification, Idiopathic, 1
Abnormal pyramidal sign, Parkinsonism, Dystonia, Dysdiadochokinesis, Bradykinesia, Athetosis, Rig... OMIM:213600
Christianson Syndrome
Cerebellar atrophy, Dystonia, Motor stereotypy, Thick eyebrow, Gait ataxia, Truncal ataxia, Aplas... ORPHA:85278
Glycosylphosphatidylinositol Biosynthesis Defect 15
Cerebellar atrophy, Dysmetria, Apraxia, Cerebellar hypoplasia, Inability to walk, Gait ataxia, Sp... OMIM:617810
Urocanase Deficiency
Fair hair, Ataxia, Tremor OMIM:276880
Autosomal Dominant Epidermolytic Ichthyosis
Congenital bullous ichthyosiform erythroderma, Palmoplantar keratoderma, Ichthyosis, Cutaneous ph... ORPHA:312
Acrokeratosis Verruciformis Of Hopf
Anonychia, Punctate palmoplantar hyperkeratosis, Nail dystrophy, Hyperkeratosis, Hypergranulosis,... ORPHA:79151
Citrullinemia Type Ii
Hypoproteinemia, Hyperlipidemia, Hypercholesterolemia, Elevated plasma citrulline, Tremor, Elevat... ORPHA:247585
Autosomal Recessive Cutis Laxa Type 2A
Dystonia, Inability to walk, Athetosis, Ataxia, Progeroid facial appearance, Thick hair, Pachygyr... ORPHA:357058
Intellectual Developmental Disorder, X-Linked 104
Spasticity, Ataxia, Frontal upsweep of hair, Tremor OMIM:300983
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Cutis marmorata, Absent eyelashes, Plantar telangiectasia, Sparse body hair, Alopecia, Absent eye... ORPHA:69735
Ectodermal Dysplasia 10B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive
Periorbital wrinkles, Sparse eyebrow, Hypohidrotic ectodermal dysplasia, Sparse eyelashes, Sparse... OMIM:224900
Dyskinesia With Orofacial Involvement, Autosomal Recessive
Frequent falls, Dystonia, Myoclonus, Tremor OMIM:619647
Pili Torti
Abnormality of the nail, Brittle hair, Pili torti, Abnormality of hair texture, Alopecia, Abnorma... ORPHA:2889
Neurodevelopmental Disorder With Or Without Autistic Features And/Or Structural Brain Abnormalities
Chiari type I malformation, Spasticity, High anterior hairline, Recurrent hand flapping OMIM:618859
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Cerebellar hypoplasia, Occipital encephalocele, Gray matter heterotopia, Dysgyria, Hydrocephalus,... ORPHA:352682
Dystonia 12
Parkinsonism, Dystonia, Bradykinesia, Unsteady gait, Torticollis, Tremor OMIM:128235
Lamellar Ichthyosis
Abnormality of the nail, Ichthyosis, Dry skin, Aplasia/Hypoplasia of the eyebrow, Hyperkeratosis,... ORPHA:313
Xq27.3Q28 Duplication Syndrome
Sparse body hair ORPHA:261483
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities
Cerebellar atrophy, Dystonia, Stereotypical hand wringing, Inability to walk, Gait ataxia, Spasti... OMIM:618917
Hyperphenylalaninemia, Bh4-Deficient, A
Hypertonia, Parkinsonism, Dystonia, Choreoathetosis, Bradykinesia, Ataxia, Hyperphenylalaninemia,... OMIM:261640
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Hyperglycinemia, Methylmalonic acidemia, Hyperammonemia OMIM:251000
Rhizomelic Chondrodysplasia Punctata, Type 1
Ichthyosis, Spasticity, Elevated levels of phytanic acid, Alopecia OMIM:215100
Atypical Juvenile Parkinsonism
Abnormal pyramidal sign, Short stepped shuffling gait, Dystonia, Shuffling gait, Resting tremor, ... ORPHA:391411
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones
Sparse facial hair, Progeroid facial appearance, Sparse axillary hair OMIM:608154
Parkinson Disease 14, Autosomal Recessive
Parkinsonism, Dystonia, Apraxia, Bradykinesia, Elevated circulating creatine kinase concentration... OMIM:612953
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency
Abnormal pyramidal sign, Cerebellar atrophy, Dystonia, Progressive cerebellar ataxia, Myoclonus, ... ORPHA:139485
Aicardi-Goutieres Syndrome 6
Loss of ability to walk, Rigidity, Dystonia, Tremor OMIM:615010
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia
Hypoplastic toenails, Alopecia, Toenail dysplasia, Fingernail dysplasia, Sparse scalp hair, Abnor... ORPHA:2325
Gabriele-De Vries Syndrome
Waddling gait, Dystonia, Tremor OMIM:617557
Hyperhistidinemia, Histidinuria OMIM:235800
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To
Hyperalaninemia, Hyperammonemia OMIM:615751
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Incoordination, Cerebellar atrophy, Dysmetria, Dystonia, Apraxia, Spastic paraparesis, Bradykines... OMIM:615157
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome
Upper motor neuron dysfunction, Alopecia OMIM:612079
Myopathy With Extrapyramidal Signs
Cerebellar dysplasia, Hyperlysinemia, Dystonia, Frequent falls, Choreoathetosis, Perisylvian poly... OMIM:615673
Truncal ataxia, Elevated hepatic transaminase, Premature skin wrinkling, Abnormality of the front... ORPHA:263487
Eem Syndrome
Sparse scalp hair, Sparse body hair, Absent eyebrow ORPHA:1897
Infantile Liver Failure Syndrome 3
Acute hepatic failure, Hyperammonemia, Elevated hepatic transaminase, Jaundice OMIM:618641
Hypertyrosinemia OMIM:276800
Hereditary Arterial And Articular Multiple Calcification Syndrome
Decreased serum creatinine ORPHA:289601
Tricho-Retino-Dento-Digital Syndrome
Uncombable hair, Sparse hair ORPHA:1264
Acyl-Coa Dehydrogenase 9 Deficiency
Increased circulating lactate dehydrogenase concentration, Elevated circulating acylcarnitine con... ORPHA:99901
Dystonia 11, Myoclonic
Torticollis, Writer's cramp, Myoclonus, Tremor OMIM:159900
Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, And Other Abnormalities
Small nail, Hypoplastic nipples, Ectodermal dysplasia, Sparse hair OMIM:273400
Shukla-Vernon Syndrome
Cerebellar atrophy, Sparse hair, Broad-based gait OMIM:301029
Sialidosis Type 1
Vascular skin abnormality, Ataxia, Hyperkeratosis, Aminoaciduria, Myoclonus, Gait disturbance, Sl... ORPHA:812
Leukodystrophy, Hypomyelinating, 6
Cerebellar atrophy, Dystonia, Choreoathetosis, Ataxia, Rigidity, Spasticity, Tremor OMIM:612438
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia
Abnormality of the nail, Sparse eyebrow, Absent hair, Facial erythema, Poor wound healing, Tricho... ORPHA:1010
Keratosis Follicularis Spinulosa Decalvans, X-Linked
Abnormality of the nail, Palmoplantar keratoderma, Scarring alopecia of scalp, Nail dysplasia, Sp... OMIM:308800
Carnitine-Acylcarnitine Translocase Deficiency
Cyanosis, Hepatic failure, Elevated circulating acylcarnitine concentration, Decreased plasma car... ORPHA:159
Lissencephaly 6 With Microcephaly
Cerebellar atrophy, Periventricular heterotopia, Limb hypertonia, Simplified gyral pattern, Lisse... OMIM:616212
Ramon Syndrome
Telangiectasia of the skin, Hyperkeratosis, Generalized hirsutism ORPHA:3019
Urocanic Aciduria
Action tremor, Ataxia, Gait ataxia, Abnormal circulating histidine concentration, Truncal ataxia,... ORPHA:210128
Epilepsy, Progressive Myoclonic, 1B
Dysmetria, Babinski sign, Tremor OMIM:612437
Hsd10 Disease
Abnormal urinary acylglycine profile, Choreoathetosis, Spastic paraparesis, Ataxia, Rigidity, Gai... ORPHA:391417
Developmental Delay And Seizures With Or Without Movement Abnormalities
Dystonia, Bradykinesia, Ataxia, Rigidity, Chiari type I malformation, Tremor OMIM:617836
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Increased C-peptide level, Decreased plasma carnitine, Mildly elevated creatine kinase, Abnormal ... ORPHA:71212
Cdkl5-Deficiency Disorder
Stereotypical hand wringing, Gait disturbance, Difficulty walking, Synophrys ORPHA:505652
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Incoordination, Cerebellar atrophy, Dysmetria, Frequent falls, Hand tremor, Tip-toe gait, Parapar... OMIM:302800
3-Hydroxy-3-Methylglutaric Aciduria
Ataxia, Jaundice, Hyperuricemia, Spasticity, Myoclonus, Elevated hepatic transaminase, Pallor, Sp... ORPHA:20
Intellectual Developmental Disorder, X-Linked 109
Stereotypical body rocking, Poor coordination, Recurrent hand flapping OMIM:309548