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Gene: Ass1 MGI:88090

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Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
argininosuccinate synthetase 1
Synonyms:
fold,  Ass-1,  ASS

Order Alleles

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

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
phenotypes		 Matching phenotypes Source
Citrullinemia, Classic
Hyperglutaminemia, Hyperammonemia, Episodic ammonia intoxication, Elevated plasma citrulline, Hyp... OMIM:215700

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Atrichia With Papular Lesions
Sparse hair, Generalized papillary lesions OMIM:209500
Hypotrichosis 1
Sparse eyelashes, Sparse axillary hair, Sparse pubic hair, Sparse eyebrow, Abnormality of the nai... OMIM:605389
Ectodermal Dysplasia 6, Hair/Nail Type
Alopecia, Hair-nail ectodermal dysplasia, Thin toenail, Sparse hair, Dystrophic toenail OMIM:614928
Carbamoyl-Phosphate Synthetase 1 Deficiency
Hypoargininemia, Aminoaciduria, Hyperammonemia, Episodic ammonia intoxication ORPHA:147
Hypotrichosis Simplex
Sparse scalp hair, Alopecia, Sparse eyelashes, Sparse eyebrow, Sparse hair, Sparse body hair ORPHA:55654
Hypotrichosis 11
Sparse or absent eyelashes, Alopecia universalis, Absent axillary hair, Sparse hair, Aplasia/Hypo... OMIM:615059
Ectodermal Dysplasia 9, Hair/Nail Type
Concave nail, Absent eyelashes, Ectodermal dysplasia, Atrichia, Nail dystrophy, Nail dysplasia, S... OMIM:614931
Hypotrichosis 9
Sparse scalp hair, Sparse body hair OMIM:614237
Witkop Syndrome
Ridged nail, Concave nail, Nail pits, Fine hair, Small nail, Sparse hair OMIM:189500
Argininemia
Diaminoaciduria, Hyperammonemia ORPHA:90
Hyperlysinuria With Hyperammonemia
Dibasicaminoaciduria, Hyperlysinemia, Hyperlysinuria, Hyperammonemia OMIM:238750
Hypotrichosis 4
Sparse scalp hair, Alopecia, Sparse eyelashes, Sparse eyebrow, Uncombable hair, Sparse body hair OMIM:146550
Leukomelanoderma, Infantilism, Mental Retardation, Hypodontia, Hypotrichosis
Sparse hair OMIM:246500
Hypotrichosis 10
Sparse eyebrow, Sparse eyelashes, Sparse body hair OMIM:614238
Odonto-Onycho Dysplasia-Alopecia Syndrome
Alopecia, Abnormal fingernail morphology, Hypoplastic toenails, Sparse eyebrow, Sparse hair, Spar... ORPHA:2722
Aredyld
Ectodermal dysplasia, Generalized hypotrichosis OMIM:207780
Alopecia, Congenital
Sparse hair, Alopecia OMIM:300042
Ichthyosis-Hypotrichosis Syndrome
Sparse hair ORPHA:91132
Saccharopinuria
Citrullinuria, Hypercystinemia, Hyperammonemia, Cystinuria, Hyperlysinuria, Abnormality of circul... ORPHA:3124
Trichodysplasia-Xeroderma Syndrome
Sparse scalp hair, Alopecia, Brittle hair, Sparse eyebrow, Sparse body hair, Coarse hair, Trichod... ORPHA:3361
Hypotrichosis, Congenital, With Juvenile Macular Dystrophy
Sparse hair, Reduced terminal:vellus ratio, Pili torti OMIM:601553
Ectodermal Dysplasia 4, Hair/Nail Type
Absent eyebrow, Alopecia, Brittle hair, Hair-nail ectodermal dysplasia, Absent eyelashes, Onychol... OMIM:602032
Pulmonary Hypoplasia, Primary
Neonatal death OMIM:265430
Tooth Agenesis, Selective, 8
Sparse eyebrow, Dry skin, Sparse hair OMIM:617073
Graham Little-Piccardi-Lassueur Syndrome
Sparse scalp hair, Alopecia, Sparse axillary hair, Sparse pubic hair, Perifollicular hyperkeratosis ORPHA:505
Woolly Hair, Autosomal Recessive 3
Sparse scalp hair, Curly hair, Sparse eyelashes, Fine hair, Sparse hair, Trichorrhexis nodosa OMIM:616760
Osteopenia And Sparse Hair
Sparse hair OMIM:259690
Erythrokeratodermia Variabilis Et Progressiva 5
Abnormal hair morphology, Hyperkeratosis, Onychogryposis, Palmoplantar hyperkeratosis OMIM:617756
Ectodermal Dysplasia 5, Hair/Nail Type
Sparse scalp hair, Hair-nail ectodermal dysplasia, Dystrophic fingernails, Absent toenail OMIM:614927
Ornithine Transcarbamylase Deficiency
Aminoaciduria, Hyperammonemia ORPHA:664
Hidrotic Ectodermal Dysplasia, Christianson-Fourie Type
Sparse scalp hair, Absent eyebrow, Sparse eyelashes, Sparse axillary hair, Abnormal hair morpholo... ORPHA:1808
Hernia, Anterior Diaphragmatic
Neonatal death OMIM:306950
Hidrotic Ectodermal Dysplasia
Slow-growing nails, Palmoplantar hyperkeratosis, Absent pubic hair, Sparse hair, Hyperkeratotic p... ORPHA:189
Hair Defect With Photosensitivity And Mental Retardation
Brittle hair, Sparse eyelashes, Sparse eyebrow, Coarse hair, Sparse hair, Cutaneous photosensitivity OMIM:234030
Axin2-Related Attenuated Familial Adenomatous Polyposis
Sparse hair, Ectodermal dysplasia ORPHA:401911
Anonychia With Flexural Pigmentation
Macular telangiectasia, Abnormal hair morphology, Hyperkeratosis, Anonychia, Follicular hyperkera... ORPHA:69125
Episodic Ataxia, Type 1
Incoordination, Elevated circulating creatine kinase concentration, Tremor, Babinski sign, Slurre... OMIM:160120
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Clonus, Poor coordination, Abnormal pyramidal sign, Spastic paraplegia, Hyperammonemia, Dysmetria... OMIM:238970
Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy
Alopecia, Onychogryposis of toenails, Alopecia of scalp, Sparse body hair, Dystrophic toenail OMIM:617294
Mitochondrial Dna Depletion Syndrome 17
Cerebellar atrophy, Spastic tetraparesis, Chorea, Low plasma citrulline, Hyperammonemia, Hemiball... OMIM:618567
Ectodermal Dysplasia 10A, Hypohidrotic/Hair/Nail Type, Autosomal Dominant
Ridged nail, Sparse eyelashes, Slow-growing hair, Sparse eyebrow, Fine hair, Ectodermal dysplasia... OMIM:129490
Epidermolysis Bullosa With Diaphragmatic Hernia
Neonatal death OMIM:226735
Palmoplantar Keratoderma, Nonepidermolytic, Focal 1
Perioral hyperkeratosis, Palmoplantar keratoderma, Follicular hyperkeratosis, Congenital bullous ... OMIM:613000
Ichthyosis, Congenital, Autosomal Recessive 13
Ichthyosis, Hyperkeratosis, Hypergranulosis, Palmoplantar hyperkeratosis OMIM:617574
Lethal Congenital Contracture Syndrome 3
Neonatal death OMIM:611369
Sandhoff Disease, Adult Form
Reduced beta-hexosaminidase activity, Elevated circulating creatine kinase concentration, Tremor,... ORPHA:309169
Insulin-Resistance Syndrome Type A
Hyperkeratosis, Generalized hirsutism ORPHA:2297
Hypotrichosis 6
Brittle hair, Sparse eyelashes, Sparse eyebrow, Erythema, Sparse hair, Pili torti OMIM:607903
Angioma Serpiginosum, X-Linked
Sparse hair, Nail dystrophy, Fine hair OMIM:300652
Spinocerebellar Ataxia 37
Cerebellar atrophy, Ataxia, Tremor, Unsteady gait, Dysphagia, Frequent falls OMIM:615945
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2
Hypervalinemia, Hyperammonemia, Hyperisoleucinemia, Hyperleucinemia, Increased blood urea nitrogen OMIM:620085
Acrokeratosis Verruciformis
Hyperkeratosis, Punctate palmoplantar hyperkeratosis, Ridged nail, Acrokeratosis OMIM:101900
Pyknoachondrogenesis
Stillbirth OMIM:265880
Palmoplantar Keratoderma And Congenital Alopecia 2
Alopecia totalis, Palmoplantar hyperkeratosis, Facial erythema, Hyperkeratosis, Nail dystrophy, N... OMIM:212360
Lissencephaly 1
Spastic tetraparesis, Subcortical band heterotopia, Gray matter heterotopia, Lissencephaly, Cereb... OMIM:607432
Alopecia Areata 2
Alopecia of scalp, Patchy alopecia, Alopecia totalis, Alopecia universalis OMIM:610753
Hypotrichosis 7
Sparse scalp hair, Brittle hair, Sparse eyelashes, Sparse axillary hair, Abnormal sweat gland mor... OMIM:604379
L-Ferritin Deficiency
Alopecia, Restless legs, Decreased circulating ferritin concentration OMIM:615604
Spinocerebellar Ataxia 43
Ataxia, Tremor, Rigidity, Limb ataxia, Gait ataxia, Cerebellar vermis atrophy OMIM:617018
Alopecia Universalis Congenita
Absent eyebrow, Absent eyelashes, Absent pubic hair, Absent axillary hair, Alopecia universalis OMIM:203655
Hypotrichosis 8
Ridged nail, Sparse scalp hair, Dry hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow,... OMIM:278150
Alopecia Areata 1
Trachyonychia, Alopecia totalis, Nail pits, Patchy alopecia, Alopecia universalis OMIM:104000
Focal Facial Dermal Dysplasia 3, Setleis Type
Aged leonine appearance, Low anterior hairline, Absent lower eyelashes, Sparse hair, Distichiasis OMIM:227260
Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis
Tremor, Spastic paraplegia, Palmoplantar hyperkeratosis OMIM:309560
Developmental And Epileptic Encephalopathy 82
Cerebellar vermis hypoplasia, Inability to walk, Spastic tetraplegia, Hyperammonemia, Spastic par... OMIM:618721
Ectodermal Dysplasia/Skin Fragility Syndrome
Absent eyebrow, Absent eyelashes, Ectodermal dysplasia, Nail dystrophy, Scaling skin, Sparse hair... OMIM:604536
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
Abnormal eyelash morphology, Sparse scalp hair, Sparse body hair, Alopecia universalis ORPHA:1008
Schopf-Schulz-Passarge Syndrome
Ridged nail, Narrow nail, Thin nail, Poroma, Ectodermal dysplasia, Onycholysis, Nail dystrophy, S... OMIM:224750
Parana Hard Skin Syndrome
Hyperkeratosis, Thickened skin, Generalized hirsutism ORPHA:2812
Mitochondrial Complex I Deficiency, Nuclear Type 33
Simplified gyral pattern, Hyperammonemia, Cerebellar hypoplasia, Sparse hair, Loss of ambulation,... OMIM:618253
Monilethrix
Alopecia, Brittle hair, Abnormality of hair texture, Nail dystrophy, Nail dysplasia, Sparse hair OMIM:158000
Patent Ductus Venosus
Hypergalactosemia, Hyperammonemia OMIM:601466
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay
Tremor, Ataxia, Cerebellar hypoplasia OMIM:213000
Porokeratosis Of Mibelli
Hyperkeratosis, Cutaneous photosensitivity, Porokeratosis ORPHA:735
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3
Tremor, Slurred speech, Ataxia, Cerebellar ataxia associated with quadrupedal gait OMIM:613227
Pyruvate Dehydrogenase E1-Beta Deficiency
Hyperammonemia OMIM:614111
Intellectual Developmental Disorder With Autism And Speech Delay
Inability to walk, Pachygyria, Abnormal repetitive mannerisms OMIM:606053
Woolly Hair, Hypotrichosis, Everted Lower Lip, And Outstanding Ears
Sparse hair, Woolly hair OMIM:278200
Monilethrix
Abnormal eyebrow morphology, Brittle hair, Slow-growing hair, Abnormal eyelash morphology, Fine h... ORPHA:573
Cortical Dysplasia, Complex, With Other Brain Malformations 3
Subcortical band heterotopia, Spastic tetraplegia, Gray matter heterotopia, Lissencephaly, Pachyg... OMIM:615411
Primary Dystonia, Dyt13 Type
Torticollis, Generalized dystonia, Postural tremor, Involuntary movements, Dystonia, Torsion dyst... ORPHA:98807
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Hyperactivity, Broad-based gait, Spastic tetraparesis, Aggressive behavior, Tremor, Simplified gy... OMIM:619470
Spinocerebellar Ataxia 40
Broad-based gait, Ataxia, Tremor, Unsteady gait, Dysmetria, Gait ataxia, Ankle clonus, Pontocereb... OMIM:616053
Argininosuccinic Aciduria
Abnormal hair quantity, Ataxia, Trichorrhexis nodosa, Hyperglutaminemia, Hyperammonemia, Aminoaci... ORPHA:23
Microlissencephaly
Cerebellar atrophy, Subcortical heterotopia, Periventricular heterotopia, Simplified gyral patter... ORPHA:1083
Ectodermal Dysplasia, Trichoodontoonychial Type
Abnormal eyelash morphology, Sparse hair, Abnormal toenail morphology, Sparse body hair, Aplasia/... ORPHA:1818
Metabolic Crises, Recurrent, With Variable Encephalomyopathic Features And Neurologic Regression
Ataxia, Elevated circulating creatine kinase concentration, Hyperammonemia, Choreoathetosis, Dyst... OMIM:618416
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Cerebellar atrophy, Broad-based gait, Hand tremor, Gait ataxia, Dysphagia, Recurrent hand flappin... OMIM:617862
Leukoencephalopathy, Brain Calcifications, And Cysts
Ataxia, Tremor, Abnormal pyramidal sign, Abnormality of extrapyramidal motor function, Gait distu... OMIM:614561
Optic Atrophy 2
Tremor, Dysdiadochokinesis, Babinski sign OMIM:311050
Alopecia Universalis
Absent eyelashes, Absent eyebrow, Patchy alopecia, Alopecia universalis ORPHA:701
Choroidal Atrophy-Alopecia Syndrome
Abnormal fingernail morphology, Supernumerary nipple, Bifid nail, Fine hair, Sparse or absent eye... ORPHA:1433
Dermatoleukodystrophy
Premature skin wrinkling, Progeroid facial appearance OMIM:221790
Lissencephaly 3
Cerebellar vermis hypoplasia, Ataxia, Periventricular laminar heterotopia, Agyria, Spastic tetrap... OMIM:611603
Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome
Congenital alopecia totalis, Tetraplegia/tetraparesis, Sparse eyebrow, Rigidity, Unsteady gait, P... ORPHA:2269
Spinocerebellar Ataxia Type 15/16
Cerebellar atrophy, Ataxia, Upper limb postural tremor, Gait ataxia, Head tremor, Tremor by anato... ORPHA:98769
Acrogeria
Telangiectasia of the skin, Prematurely aged appearance, Skin ulcer, Fine hair, Excessive wrinkle... ORPHA:2500
Hypotrichosis And Recurrent Skin Vesicles
Sparse scalp hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow, Leukonychia, Skin vesi... OMIM:613102
Hsd10 Disease, Infantile Type
Abnormal circulating enzyme concentration or activity, Restlessness, Spastic tetraparesis, Poor c... ORPHA:391428
3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome
Cerebellar atrophy, Inability to walk, Hyperammonemia, Abnormality of extrapyramidal motor functi... OMIM:614739
Spinocerebellar Ataxia Type 38
Cerebellar atrophy, Tremor, Difficulty walking, Gait ataxia ORPHA:423296
Palmoplantar Keratoderma, Nagashima Type
Orthokeratotic hyperkeratosis, Hypergranulosis, Palmoplantar hyperkeratosis OMIM:615598
Hyperprolinemia, Type I
Hyperactivity, Ataxia, Aggressive behavior, Hyperglycinuria, Hyperprolinemia, Prolinuria, Hydroxy... OMIM:239500
Cutis Laxa, Autosomal Dominant 2
Premature skin wrinkling, Cutis laxa OMIM:614434
Epidermolysis Bullosa Simplex 4, Localized Or Generalized Intermediate, Autosomal Recessive
Hyperkeratosis, Fragile skin OMIM:615028
Hyperkeratosis-Hyperpigmentation Syndrome
Hyperkeratosis, Cutaneous photosensitivity ORPHA:1336
Keratoderma Hereditarium Mutilans With Ichthyosis
Parakeratosis, Scaling skin on fingertip, Alopecia, Hypergranulosis, Honeycomb palmoplantar hyper... ORPHA:79395
Mitochondrial Complex Iii Deficiency, Nuclear Type 5
Increased serum pyruvate, Hyperammonemia, Elevated circulating suberic acid concentration, Elevat... OMIM:615160
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures
Ataxia, Aggressive behavior, Chorea, Poor coordination, Bruxism, Falls, Inappropriate laughter, D... OMIM:619150
Woolly Hair
Hypopigmentation of hair, Brittle hair, Slow-growing hair, Abnormality of hair texture, Fine hair... ORPHA:170
Hypotrichosis Simplex Of The Scalp
Abnormal eyebrow morphology, Parakeratosis, Sparse scalp hair, Absent facial hair, Abnormality of... ORPHA:90368
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Abnormal repetitive mannerisms, Ataxia, Abnormality of neuronal migration, Attention deficit hype... OMIM:618709
Palmoplantar Keratoderma And Woolly Hair
Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Leukonychia, Woolly hair, Sparse body hair OMIM:616099
Palmoplantar Keratoderma, Norrbotten Recessive Type
Hyperkeratosis, Palmoplantar keratoderma OMIM:244850
Hyperinsulinemic Hypoglycemia, Familial, 6
Asymptomatic hyperammonemia OMIM:606762
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome
Alopecia, Urticaria, Fingernail dysplasia, Sparse hair, Onychogryposis of fingernail, Ridged fing... ORPHA:2251
Hereditary Palmoplantar Keratoderma, Gamborg-Nielsen Type
Hyperkeratosis with erythema, Diffuse palmoplantar hyperkeratosis ORPHA:86923
Palmoplantar Keratoderma, Punctate Type Iii
Hyperkeratosis, Acrokeratosis OMIM:101850
Dermatoleukodystrophy
Hyperkeratosis, Thickened skin ORPHA:1659
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2
Cerebellar atrophy, Atrophy of the dentate nucleus, Broad-based gait, Ataxia, Tremor, Dysmetria, ... OMIM:610185
Pyruvate Dehydrogenase E3 Deficiency
Elevated hepatic transaminase, Elevated circulating branched chain amino acid concentration, Atax... ORPHA:2394
Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, And Facial Dysmorphism
Sparse hair, Widow's peak, Thick eyebrow OMIM:606242
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Hyperactivity, Spastic tetraparesis, Aggressive behavior, Impulsivity, Polymicrogyria, Simplified... OMIM:604317
Spinocerebellar Ataxia Type 31
Cerebellar atrophy, Spasticity, Tremor, Gait ataxia ORPHA:217012
Elastoderma
Premature skin wrinkling, Cutis laxa ORPHA:228240
3-Methylcrotonyl-Coa Carboxylase Deficiency
Abnormal circulating leucine concentration, Hyperammonemia ORPHA:6
Ichthyosis Hystrix, Lambert Type
Hyperkeratosis, Orthokeratotic hyperkeratosis OMIM:146600
Aquagenic Palmoplantar Keratoderma
Orthokeratotic hyperkeratosis, Excessive skin wrinkling on dorsum of hands and fingers, Palmoplan... ORPHA:498359
Migraine, Familial Hemiplegic, 1
Cerebellar atrophy, Ataxia, Tremor, Hemiparesis, Agitation, Hemiplegia OMIM:141500
Ichthyosis, Lamellar, Autosomal Dominant
Hyperkeratosis, Congenital nonbullous ichthyosiform erythroderma OMIM:146750
Citrullinemia, Type Ii, Adult-Onset
Hypertriglyceridemia, Hyperammonemia, Argininosuccinic aciduria, Hyperargininemia, Elevated plasm... OMIM:603471
Crandall Syndrome
Alopecia, Brittle hair, Fine hair, Pili torti, Sparse body hair, Aplasia/Hypoplasia of the eyebrow ORPHA:202
Palmoplantar Keratoderma And Congenital Alopecia 1
Alopecia, Brittle hair, Sparse eyebrow, Leukonychia, Nail dysplasia, Sparse hair, Palmoplantar er... OMIM:104100
Atypical Pantothenate Kinase-Associated Neurodegeneration
Violent behavior, Parkinsonism, Impulsivity, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, D... ORPHA:216873
Citrullinemia Type I
Torticollis, Ataxia, Slurred speech, Hyperammonemia, Ankle clonus, Elevated plasma citrulline, Sp... ORPHA:247525
Palmoplantar Keratoderma-Deafness Syndrome
Hyperkeratosis, Palmoplantar keratoderma ORPHA:2202
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Acute hyperammonemia, Ataxia, Hyperglutaminemia, Hyperammonemia, Paraplegia, Agitation, Hyperalan... ORPHA:927
Spinocerebellar Ataxia Type 37
Tremor, Cogwheel rigidity, Dysdiadochokinesis, Gait disturbance, Myoclonus, Falls, Truncal ataxia... ORPHA:363710
Lopes-Maciel-Rodan Syndrome
Cerebellar atrophy, Tremor, Unsteady gait, Abnormal pyramidal sign, Bruxism, Dysphagia, Ankle clo... OMIM:617435
Dermoodontodysplasia
Sparse scalp hair, Ectodermal dysplasia, Fingernail dysplasia, Trichodysplasia, Dry skin, Toenail... ORPHA:1660
Hyperlysinemia
Abnormal circulating enzyme concentration or activity, Neck hypertonia, Hyperactivity, Poor motor... ORPHA:2203
Epidermolysis Bullosa Simplex 1C, Localized
Hyperkeratosis OMIM:131800
Ichthyosis Hystrix Of Curth-Macklin
Hyperkeratosis, Diffuse palmoplantar hyperkeratosis, Nail dystrophy, Ichthyosis ORPHA:79503
Dowling-Degos Disease 2
Hyperkeratotic papule, Follicular hyperkeratosis OMIM:615327
Rett Syndrome
Increased serum pyruvate, Limb apraxia, Inability to walk, Hyperammonemia, Bradykinesia, Agitatio... ORPHA:778
Ectodermal Dysplasia 15, Hypohidrotic/Hair Type
Sparse scalp hair, Sparse eyelashes, Slow-growing hair, Sparse hair, Dry skin, Sparse body hair OMIM:618535
Pili Torti-Onychodysplasia Syndrome
Absent eyebrow, Alopecia, Brittle hair, Absent eyelashes, Dry skin, Ectodermal dysplasia, Nail dy... ORPHA:2890
Schöpf-Schulz-Passarge Syndrome
Alopecia, Ectodermal dysplasia, Facial telangiectasia, Sparse hair, Aplasia/Hypoplasia of the eye... ORPHA:50944
Lipoid Proteinosis Of Urbach And Wiethe
Hyperkeratosis, Thickened skin, Patchy alopecia, Aggressive behavior OMIM:247100
Epidermolysis Bullosa Simplex 5D, Generalized Intermediate, Autosomal Recessive
Alopecia, Plantar hyperkeratosis, Nail dystrophy OMIM:616487
Autosomal Recessive Generalized Epidermolysis Bullosa Simplex
Ridged nail, Abnormal fingernail morphology, Palmoplantar hyperkeratosis, Hyperkeratosis, Abnorma... ORPHA:89838
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency
Alopecia, Acute hyperammonemia, Cerebral palsy, Hyperglycinuria, Hyperammonemia, Opisthotonus, Hy... OMIM:210210
Flynn-Aird Syndrome
Hyperkeratosis, Alopecia, Alopecia of scalp, Ataxia OMIM:136300
Chromosome 15Q11-Q13 Duplication Syndrome
Restrictive behavior, Unsteady gait, Truncal ataxia, Abnormal repetitive mannerisms, Inflexible a... OMIM:608636
Trichodental Dysplasia
Sparse hair, Brittle hair, Slow-growing hair, Fine hair OMIM:601453
Alopecia Totalis
Alopecia, Alopecia of scalp ORPHA:700
Cutis Laxa, Autosomal Recessive, Type Iiia
Prominent superficial blood vessels, Low plasma citrulline, Hyperammonemia, Cutis laxa, Athetosis... OMIM:219150
Spinocerebellar Ataxia, Autosomal Recessive 16
Cerebellar atrophy, Tremor, Babinski sign, Unsteady gait, Limb ataxia, Ankle clonus, Cerebellar h... OMIM:615768
Alopecia-Intellectual Disability Syndrome 1
Alopecia, Alopecia universalis OMIM:203650
Spinocerebellar Ataxia Type 12
Cerebellar atrophy, Ataxia, Parkinsonism, Postural tremor, Action tremor, Abnormal cerebellum mor... ORPHA:98762
Trichothiodystrophy 9, Nonphotosensitive
Sparse eyebrow, Tiger tail banding, Sparse hair, Nail dystrophy OMIM:619692
Spinocerebellar Ataxia, Autosomal Recessive 4
Cerebellar atrophy, Torticollis, Ataxia, Tremor, Babinski sign, Abnormal pyramidal sign, Gait ata... OMIM:607317
N-Acetylglutamate Synthase Deficiency
Hyperglutamatemia, Hyperammonemia OMIM:237310
Keratoderma Hereditarium Mutilans
Alopecia, Honeycomb palmoplantar hyperkeratosis, Hyperkeratosis, Self-injurious behavior, Ichthyo... ORPHA:494
Lissencephaly, X-Linked, 1
Ataxia, Gray matter heterotopia, Lissencephaly, Spasticity, Pachygyria, Agyria OMIM:300067
Erythrokeratodermia Variabilis
Alopecia, Abnormal hair morphology, Erythema, Patchy palmoplantar hyperkeratosis, Dry skin, Hyper... ORPHA:317
Myoclonic-Astatic Epilepsy
Ataxia, Frontal balding, Tremor, Unsteady gait, Abnormal pyramidal sign, Premature skin wrinkling ORPHA:1942
Perifolliculitis Capitis Abscedens Et Suffodiens, Familial
Alopecia, Alopecia of scalp OMIM:260910
Hypotrichosis 12
Sparse scalp hair, Dry hair, Slow-growing hair, Sparse axillary hair, Abnormal sweat gland morpho... OMIM:615885
Combined Oxidative Phosphorylation Deficiency 36
Hyperalaninemia, Premature skin wrinkling, Elevated circulating alanine aminotransferase concentr... OMIM:617950
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Intermediate Form
Plantar hyperkeratosis, Hyperkeratosis, Skin fragility with non-scarring blistering, Nail dystrop... ORPHA:79399
Epidermolysis Bullosa Simplex With Mottled Pigmentation
Alopecia, Plantar hyperkeratosis, Nail dystrophy, Nail dysplasia, Palmar hyperkeratosis, Hyperker... ORPHA:79397
Porphyria Cutanea Tarda
Alopecia, Reduced uroporphyrinogen decarboxylase activity, Onycholysis, Facial hypertrichosis, Sc... OMIM:176100
Hyperinsulinemic Hypoglycemia, Familial, 8
Hypercholesterolemia, Hyperammonemia, Increased C-peptide level OMIM:620211
Neutropenia, Lethal Congenital, With Eosinophilia
Neonatal death OMIM:257100
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Cerebellar atrophy, Hypermanganesemia, Parkinsonism, Tremor, Babinski sign, Scissor gait, Ankle c... ORPHA:521406
Focal Facial Dermal Dysplasia Type Iii
Sparse lower eyelashes, Redundant skin, Abnormal hair pattern, Highly arched eyebrow, Prematurely... ORPHA:1807
Progeroid Syndrome, Petty Type
Reduced subcutaneous adipose tissue, Brittle hair, Prematurely aged appearance, Redundant skin, A... ORPHA:2963
Reticulate Acropigmentation Of Kitamura
Hyperkeratosis OMIM:615537
Hypotrichosis 13
Sparse hair, Woolly hair, Sparse eyelashes, Abnormal sweat gland morphology OMIM:615896
Parc Syndrome
Absent eyelashes, Absent eyebrow, Alopecia OMIM:600331
Propionic Acidemia
Hyperammonemia ORPHA:35
Ichthyosis, Hystrix-Like, With Deafness
Sparse scalp hair, Sparse eyelashes, Absent eyelashes, Scarring alopecia of scalp, Sparse eyebrow... OMIM:602540
X-Linked Non Progressive Cerebellar Ataxia
Cerebellar vermis hypoplasia, Babinski sign, Unsteady gait, Clumsiness, Spastic dysarthria, Cereb... ORPHA:314978
Rothmund-Thomson Syndrome, Type 1
Absent eyebrow, Thin nail, Absent eyelashes, Hyperkeratosis, Nail dystrophy, Sparse hair OMIM:618625
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Hemiplegia/hemiparesis, Chorea, Hyperammonemia, Choreoathetosis, Dystonia ORPHA:289916
Ectodermal Dysplasia-Syndactyly Syndrome 2
Ectodermal dysplasia, Palmoplantar keratoderma, Follicular hyperkeratosis, Congenital bullous ich... OMIM:613576
Chudley-Mccullough Syndrome
Hydrocephalus, Gray matter heterotopia, Cerebellar hypoplasia, Polymicrogyria, Cerebellar dysplasia OMIM:604213
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Ataxia, Parkinsonism, Tremor, Rigidity, Chorea, Inappropriate behavior, Myoclonus, Dystonia, Uppe... ORPHA:401901
Intellectual Developmental Disorder, Autosomal Recessive 58
Aggressive behavior, Pica, Spastic diplegia, Choreoathetosis, Self-injurious behavior, Abnormal r... OMIM:617270
Moynahan Syndrome
Sparse hair, Hyperkeratosis, Alopecia ORPHA:2574
Spinocerebellar Ataxia Type 20
Cerebellar atrophy, Isometric tremor, Ataxia, Kinetic tremor, Upper limb postural tremor, Abnorma... ORPHA:101110
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Cerebellar atrophy, Hyperactivity, Cerebellar vermis hypoplasia, Tremor, Rigidity, Inability to w... OMIM:618090
Holocarboxylase Synthetase Deficiency
Alopecia, Ataxia, Hyperammonemia, Anorexia ORPHA:79242
Bazex-Dupré-Christol Syndrome
Sparse scalp hair, Sparse eyebrow, Sparse or absent eyelashes, Coarse hair, Sparse hair, Pili tor... ORPHA:113
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7
Tremor, Vocal cord paresis, Vocal cord paralysis, Difficulty walking OMIM:158580
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Elevated hepatic transaminase, Ataxia, Elevated circulating creatine kinase concentration, Abnorm... ORPHA:42
Spinocerebellar Ataxia 38
Ataxia, Tremor, Limb ataxia, Gait ataxia, Myoclonus, Cerebellar vermis atrophy OMIM:615957
Congenital Panfollicular Nevus
Hyperkeratosis ORPHA:139414
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Tremor, Normal pressure hydrocephalus, Kinetic tremor, Gait disturbance OMIM:611808
Focal Facial Dermal Dysplasia Type I
Absent eyelashes, Low anterior hairline, Sparse hair, Distichiasis, Sparse lateral eyebrow ORPHA:79133
Isolated Lissencephaly Type 1 Without Known Genetic Defects
Gray matter heterotopia, Spasticity, Pachygyria, Agyria ORPHA:1084
Neurodevelopmental Disorder With Hypotonia And Impaired Expressive Language And With Or Without Seizures
Abnormal repetitive mannerisms, Agitation, Involuntary movements, Aggressive behavior OMIM:617171
Splenoportal Vascular Anomalies
Hyperammonemia OMIM:271500
Cerebellar Ataxia-Ectodermal Dysplasia Syndrome
Sparse hair, Fine hair ORPHA:1174
Argininosuccinic Aciduria
Dry hair, Brittle hair, Ataxia, Elevated circulating aspartate aminotransferase concentration, Tr... OMIM:207900
Hyperkeratosis Lenticularis Perstans
Hyperkeratosis lenticularis perstans OMIM:144150
Spinal Muscular Atrophy, Jokela Type
Tremor, Elevated circulating creatine kinase concentration, Difficulty walking, Fasciculations OMIM:615048
Angioma Serpiginosum, Autosomal Dominant
Hyperkeratosis OMIM:106050
Papillomatosis, Confluent And Reticulated
Hyperkeratosis OMIM:167900
Isolated Atp Synthase Deficiency
Cerebellar atrophy, Ataxia, Spastic paraplegia, Tetraplegia, Hyperammonemia, Dystonia, Hyperalani... ORPHA:254913
Neuroectodermal Melanolysosomal Disease
Hypopigmentation of hair, Ataxia, Tremor, Rigidity, Premature graying of hair, Hypertonia, Cerebe... ORPHA:33445
Spinocerebellar Ataxia, Autosomal Recessive 30
Increased serum pyruvate, Cerebellar atrophy, Ataxia, Elevated circulating creatine kinase concen... OMIM:619405
Hyperinsulinism-Hyperammonemia Syndrome
Asymptomatic hyperammonemia ORPHA:35878
Ataxia-Telangiectasia
Elevated hepatic transaminase, Hypopigmentation of hair, Telangiectasia of the skin, Prematurely ... ORPHA:100
N-Acetylaspartate Deficiency
Broad-based gait, Unsteady gait, Truncal ataxia, Abnormal repetitive mannerisms, Self-mutilation OMIM:614063
Sabinas Brittle Hair Syndrome
Dry hair, Brittle hair, Nail dystrophy, Nail dysplasia, Sparse hair OMIM:211390
Erythrokeratodermia Variabilis Et Progressiva 4
Congenital nonbullous ichthyosiform erythroderma, Hyperkeratosis, Erythema, Palmoplantar hyperker... OMIM:617526
Oliver-Mcfarlane Syndrome
Sparse hair, Alopecia, Long eyelashes, Long eyebrows OMIM:275400
Ulerythema Ophryogenesis
Facial erythema, Hyperkeratotic papule, Follicular hyperkeratosis, Dry skin, Sparse lateral eyebrow ORPHA:3406
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities
Hyperactivity, Ataxia, Aggressive behavior, Tremor, Cerebellar hypoplasia, Limb dystonia OMIM:620270
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive
Involuntary movements, Inability to walk, Self-injurious behavior, Dystonia, Spasticity, Abnormal... OMIM:617820
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Choreoathetosis, Anorexia, Hyperammonemia, Dystonia ORPHA:79312
Asperger Syndrome, Susceptibility To, 1
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines OMIM:608638
Asperger Syndrome, Susceptibility To, 2
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines OMIM:608631
Combined Oxidative Phosphorylation Deficiency 27
Cerebellar atrophy, Dystonia, Chorea, Hyperammonemia, Opisthotonus, Cerebellar hypoplasia, Myoclo... OMIM:616672
Erythrokeratoderma ''En Cocardes''
Hyperkeratosis ORPHA:315
Glutathionuria
Tremor, Reduced gamma-glutamyltransferase level, Dysdiadochokinesis, Gray matter heterotopia, Glu... OMIM:231950
Ectodermal Dysplasia 7, Hair/Nail Type
Sparse scalp hair, Alopecia, Brittle hair, Sparse eyelashes, Hair-nail ectodermal dysplasia, Abno... OMIM:614929
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Dominant
Cerebellar atrophy, Oculogyric crisis, Inability to walk, Chorea, Bruxism, Self-injurious behavio... OMIM:614254
Hidrotic Ectodermal Dysplasia, Halal Type
Sparse scalp hair, Absent eyebrow, Abnormal fingernail morphology, Supernumerary nipple, Absent e... ORPHA:1809
Vitamin B12-Responsive Methylmalonic Acidemia
Hyperammonemia ORPHA:28
Argininemia
Cerebellar atrophy, Hyperactivity, Anorexia, Hyperammonemia, Progressive spastic quadriplegia, Di... OMIM:207800
Developmental And Epileptic Encephalopathy 97
Tremor, Inability to walk, Stereotypical hand wringing OMIM:619561
Adult Neuronal Ceroid Lipofuscinosis
Ataxia, Tremor, Abnormal pyramidal sign, Clumsiness, Abnormality of extrapyramidal motor function... ORPHA:79262
Severe Combined Immunodeficiency Due To Foxn1 Deficiency
Ridged nail, Nail pits, Congenital alopecia totalis ORPHA:169095
Autism, Susceptibility To, X-Linked 3
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines OMIM:300496
Autism, Susceptibility To, X-Linked 1
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines OMIM:300425
Nicolaides-Baraitser Syndrome
Alopecia, Curly eyelashes, Abnormal hair pattern, Highly arched eyebrow, Excessive wrinkled skin,... ORPHA:3051
Trichothiodystrophy 7, Nonphotosensitive
Brittle hair, Ichthyosis, Congenital nonbullous ichthyosiform erythroderma, Follicular hyperkerat... OMIM:618546
Congenital Disorder Of Glycosylation, Type Iq
Elevated hepatic transaminase, Cutis laxa, Hyperkeratosis, Ichthyosis, Spasticity, Dry skin, Poly... OMIM:612379
Syndromic X-Linked Intellectual Disability 7
Sparse body hair ORPHA:85274
Basal Ganglia Calcification, Idiopathic, 1
Parkinsonism, Abnormal circulating calcium concentration, Tremor, Chorea, Rigidity, Abnormal pyra... OMIM:213600
Ichthyosis, Annular Epidermolytic, 1
Abnormal hair morphology, Hyperparakeratosis, Erythema, Palmoplantar hyperkeratosis, Ichthyosis, ... OMIM:607602
Hypotrichosis 14
Sparse pubic hair, Short eyelashes, Absent axillary hair, Sparse hair, Sparse body hair OMIM:618275
Neurodegeneration With Brain Iron Accumulation 8
Cerebellar atrophy, Ataxia, Tremor, Unsteady gait, Dysmetria, Loss of ambulation OMIM:617917
Neurodegeneration With Brain Iron Accumulation 7
Cerebellar atrophy, Lower limb spasticity, Ataxia, Tremor, Dysmetria, Dysphagia, Increased circul... OMIM:617916
Segawa Syndrome, Autosomal Recessive
Parkinsonism, Tremor, Rigidity, Gait ataxia, Abnormality of extrapyramidal motor function, Myoclo... OMIM:605407
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome
Alopecia, Ataxia, Long eyelashes, Sparse hair, Neonatal hyperbilirubinemia ORPHA:3363
Microcephalic Primordial Dwarfism, Montreal Type
Abnormal hair quantity, Prematurely aged appearance, Dry skin, Low posterior hairline, Premature ... ORPHA:2617
Cortical Dysplasia, Complex, With Other Brain Malformations 2
Spastic tetraplegia, Self-injurious behavior, Hypertonia, Polymicrogyria, Abnormal repetitive man... OMIM:615282
Lower Motor Neuron Syndrome With Late-Adult Onset
Elevated circulating creatine kinase concentration, Tremor, Inability to walk, Gait disturbance, ... ORPHA:276435
Candidiasis, Familial, 1
Alopecia OMIM:114580
Ichthyosis, Congenital, Autosomal Recessive 1
Parakeratosis, Alopecia, Palmoplantar hyperkeratosis, Congenital ichthyosiform erythroderma, Spar... OMIM:242300
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Elevated hepatic transaminase, Ataxia, Clonus, Elevated circulating creatine kinase concentration... OMIM:616878
Spinocerebellar Ataxia 34
Cerebellar atrophy, Ataxia, Epidermal hyperkeratosis, Abnormal pyramidal sign, Limb ataxia, Gait ... OMIM:133190
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4A
Spastic ataxia, Hyperglutamatemia, Cerebral palsy, Generalized dystonia, Spastic tetraparesis, Pa... OMIM:620358
Congenital Muscular Dystrophy Without Intellectual Disability
Cerebellar atrophy, Pachygyria, Gray matter heterotopia, Tip-toe gait, Difficulty walking, Freque... ORPHA:370980
Coenzyme Q10 Deficiency, Primary, 9
Cerebellar atrophy, Lower limb spasticity, Ataxia, Impulsivity, Tremor, Dysmetria, Impaired tande... OMIM:619028
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency
Cerebellar atrophy, Lower limb spasticity, Alopecia, Speech apraxia, Postural tremor, Hypoplasia ... ORPHA:412057
Congenital Disorder Of Glycosylation, Type Ip
Hyperammonemia, Death in childhood OMIM:613661
Sub-Cortical Nodular Heterotopia
Polymicrogyria, Spasticity, Subcortical heterotopia, Abnormality of neuronal migration ORPHA:101029
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities
Cerebellar atrophy, Inability to walk, Chorea, Gait ataxia, Self-injurious behavior, Compulsive b... OMIM:618917
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
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hyperactivity, Hypertriglyceridemia, Ataxia, Tremor, Abnormal pyramidal sign, Myoclonus, Tetrapar... OMIM:615924
Glutamine Deficiency, Congenital
Hypoglutaminemia, Neonatal death, Hyperammonemia OMIM:610015
Alopecia-Intellectual Disability-Hypergonadotropic Hypogonadism Syndrome
Alopecia totalis ORPHA:1014
Propionic Acidemia
Hyperglycinuria, Hyperammonemia, Hyperglycinemia, Dystonia, Propionyl-CoA carboxylase deficiency,... OMIM:606054
Biotinidase Deficiency
Alopecia, Ataxia, Hyperammonemia, Diffuse cerebellar atrophy, Decreased circulating biotinidase c... OMIM:253260
Epilepsy, Progressive Myoclonic 7
Cerebellar atrophy, Ataxia, Tremor, Myoclonus OMIM:616187
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome
Elevated hepatic transaminase, Incoordination, Ataxia, Clonus, Elevated circulating creatine kina... ORPHA:480864
Autism
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines OMIM:209850
Autism, Susceptibility To, 8
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines OMIM:607373
Ectodermal Dysplasia-Syndactyly Syndrome 1
Sparse scalp hair, Alopecia, Sparse eyelashes, Absent facial hair, Hypoplastic toenails, Coarse h... OMIM:613573
Baker-Gordon Syndrome
Ataxia, Involuntary movements, Inability to walk, Choreoathetosis, Self-injurious behavior, Hyper... OMIM:618218
Keratosis Linearis With Ichthyosis Congenita And Sclerosing Keratoderma
Parakeratosis, Hyperconvex nail, Linear arrays of macular hyperkeratoses in flexural areas, Honey... OMIM:601952
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5
Elevated circulating creatine kinase concentration, Hyperammonemia, Gait imbalance OMIM:618120
Ichthyosis, Congenital, Autosomal Recessive 2
Alopecia, Thin nail, Hypergranulosis, Paralysis, Abnormal hair morphology, Erythema, Hyperkeratos... OMIM:242100
Combined Oxidative Phosphorylation Deficiency 4
Spasticity, Polymicrogyria, Hyperammonemia, Opisthotonus OMIM:610678
Dyskinesia, Limb And Orofacial, Infantile-Onset
Tremor, Chorea, Unsteady gait, Hyperkinetic movements, Hemiballismus, Frequent falls OMIM:616921
Developmental And Epileptic Encephalopathy 58
Inability to walk, Abnormal repetitive mannerisms, Spastic diplegia OMIM:617830
Vitamin B12-Unresponsive Methylmalonic Acidemia
Ataxia, Paraparesis, Hyperammonemia, Choreoathetosis, Tetraparesis ORPHA:27
Pyruvate Carboxylase Deficiency
Anorexia, Tremor, Cerebellar gliosis, Abnormal pyramidal sign, Compulsive behaviors, Hypoglutamin... ORPHA:3008
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Decreased HDL cholesterol concentration, Hypoalbuminemia, Elevated gamma-glutamyltransferase leve... ORPHA:247598
Hawkinsinuria
Sparse hair, Fine hair ORPHA:2118
Ectodermal Dysplasia 11B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive
Absent eyebrow, Sparse scalp hair, Absent nipple, Sparse eyelashes, Absent eyelashes, Ectodermal ... OMIM:614941
Epidermolysis Bullosa Dystrophica, Pretibial
Hyperkeratosis, Nail dystrophy OMIM:131850
Olmsted Syndrome, X-Linked
Subungual hyperkeratosis, Parakeratosis, Alopecia totalis, Palmoplantar hyperkeratosis, Hyperkera... OMIM:300918
Renal Failure, Progressive, With Hypertension
Elevated circulating creatinine concentration OMIM:161900
Bathing Suit Ichthyosis
Parakeratosis, Alopecia, Thickened skin, Palmoplantar hyperkeratosis, Palmoplantar scaling skin, ... ORPHA:100976
Ichthyosis, Congenital, Autosomal Recessive 14
Erythema, Hyperkeratosis, Orthokeratotic hyperkeratosis, Scaling skin, Congenital nonbullous icht... OMIM:617571
Epidermolytic Palmoplantar Keratoderma
Abnormal fingernail morphology, Hypergranulosis, Epidermal hyperkeratosis, Diffuse palmoplantar h... ORPHA:2199
Thumb Deformity And Alopecia
Alopecia OMIM:188150
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Elevated hepatic transaminase, Increased circulating lactate dehydrogenase concentration, Elevate... OMIM:600649
Clouston Syndrome
Alopecia, Brittle hair, Sparse eyelashes, Alopecia totalis, Slow-growing hair, Sparse eyebrow, Pa... OMIM:129500
Spastic Ataxia 2, Autosomal Recessive
Cerebellar atrophy, Spastic ataxia, Torticollis, Tremor, Head titubation, Babinski sign, Dysmetri... OMIM:611302
Mitochondrial Complex Iii Deficiency, Nuclear Type 11
Hyperammonemia OMIM:620137
Carbamoyl Phosphate Synthetase I Deficiency, Hyperammonemia Due To
Hyperammonemia, Low plasma citrulline, Hypoargininemia, Episodic ammonia intoxication OMIM:237300
Intellectual Developmental Disorder, Autosomal Recessive 48
Waddling gait, Aggressive behavior, Tremor, Inability to walk, Inappropriate laughter, Self-mutil... OMIM:616269
Dystonia, Dopa-Responsive
Resting tremor, Torticollis, Incoordination, Postural tremor, Writer's cramp, Babinski sign, Park... OMIM:128230
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Elevated hepatic transaminase, Elevated circulating creatine kinase concentration, Elevated circu... OMIM:608836
Mitochondrial Trifunctional Protein Deficiency 2
Death in infancy, Increased circulating NT-proBNP concentration, Elevated circulating creatine ki... OMIM:620300
Hypotrichosis-Intellectual Disability, Lopes Type
Sparse hair ORPHA:2266
Dystonia 11, Myoclonic
Torticollis, Writer's cramp, Tremor, Myoclonus, Compulsive behaviors OMIM:159900
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)
Elevated hepatic transaminase, Cerebellar atrophy, Ataxia, Hyperammonemia, Dysphagia, Choreoathet... OMIM:615471
Spinocerebellar Ataxia, Autosomal Recessive 2
Dilated fourth ventricle, Incoordination, Ataxia, Tremor, Unsteady gait, Dysmetria, Gait ataxia, ... OMIM:213200
Cerebral Creatine Deficiency Syndrome 2
Lower limb spasticity, Ataxia, Aggressive behavior, Tremor, Rigidity, Paraparesis, Hypertonia, My... OMIM:612736
Spinocerebellar Ataxia 18
Cerebellar atrophy, Tremor, Babinski sign, Dysmetria, Dysdiadochokinesis, Progressive gait ataxia OMIM:607458
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Elevated circulating aspartate aminotransferase concentration, Conjugated hyperbilirubinemia, Int... OMIM:617093
Multiple Acyl-Coa Dehydrogenase Deficiency
Elevated hepatic transaminase, Elevated circulating creatine kinase concentration, Elevated circu... ORPHA:26791
Olmsted Syndrome 2
Parakeratosis, Perioral hyperkeratosis, Palmoplantar hyperkeratosis, Hyperkeratosis, Palmoplantar... OMIM:619208
Craniofaciofrontodigital Syndrome
Prominent superficial veins, Thick hair, Low anterior hairline, Cutis laxa, Sacral hypertrichosis... ORPHA:363705
Alg8-Cdg
Hyponatremia, Elevated hepatic transaminase, Abnormality of subcutaneous fat tissue, Ataxia, Cuti... ORPHA:79325
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits
Ataxia, Inability to walk, Oculomotor apraxia, Cerebellar vermis atrophy, Dysmetria, Cerebellar h... OMIM:618087
Marie Unna Hereditary Hypotrichosis
Sparse scalp hair, Alopecia, Sparse or absent eyelashes, Coarse hair, Aplasia/Hypoplasia of the e... ORPHA:444
Autosomal Dominant Spastic Ataxia Type 1
Spastic ataxia, Lower limb spasticity, Tremor, Babinski sign, Spastic paraplegia, Limb ataxia, Dy... ORPHA:251282
Infantile Neuronal Ceroid Lipofuscinosis
Cerebellar atrophy, Abnormal circulating enzyme concentration or activity, Ataxia, Tremor, Chorea... ORPHA:79263
Foxg1 Syndrome
Inability to walk, Bruxism, Choreoathetosis, Hyperkinetic movements, Myoclonus, Difficulty walkin... ORPHA:561854
Ichthyosis, Congenital, Autosomal Recessive 11
Curly hair, Brittle hair, Sparse eyelashes, Curly eyelashes, Sparse eyebrow, Hyperkeratosis, Cong... OMIM:602400
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3
Cerebellar atrophy, Ataxia, Elevated circulating creatine kinase concentration, Tremor, Dysmetria... OMIM:618387
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis
Parakeratosis, Erythema, Leukonychia, Hyperkeratosis, Palmoplantar keratoderma, Nail dystrophy, I... OMIM:615821
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment
Elevated circulating creatinine concentration OMIM:242530
Transaldolase Deficiency
Premature skin wrinkling, Abnormal circulating glutamine concentration, Increased serum bile acid... ORPHA:101028
Classic Mycosis Fungoides
Alopecia, Erythema, Skin ulcer, Hyperkeratosis, Dry skin, Abnormality of the nail ORPHA:2584
Kerion Celsi
Alopecia ORPHA:499
Mega-Corpus-Callosum Syndrome With Cerebellar Hypoplasia And Cortical Malformations
Cerebellar vermis hypoplasia, Periventricular heterotopia, Inability to walk, Unsteady gait, Simp... OMIM:618273
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities
Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder OMIM:617787
Acquired Ichthyosis
Erythema, Hyperkeratosis, Palmoplantar keratoderma, Ichthyosis, Dry skin ORPHA:454
Epidermolytic Hyperkeratosis 2
Palmoplantar hyperkeratosis, Hyperkeratosis, Cobblestone-like hyperkeratosis, Palmoplantar kerato... OMIM:620150
Alopecia Antibody Deficiency
Abnormal eyelash morphology, Sparse hair, Aplasia/Hypoplasia of the eyebrow, Sparse body hair ORPHA:1006
Ichthyosis, Congenital, Autosomal Recessive 10
Hypergranulosis, Hyperkeratosis, Orthokeratotic hyperkeratosis, Palmoplantar keratoderma, General... OMIM:615024
Trichothiodystrophy 8, Nonphotosensitive
Sparse eyebrow, Head titubation, Babinski sign, Craniofacial dystonia, Spastic diplegia, Cutis la... OMIM:619691
Carnitine Palmitoyltransferase I Deficiency
Elevated hepatic transaminase, Elevated circulating aspartate aminotransferase concentration, Ele... OMIM:255120
Intellectual Developmental Disorder, X-Linked 104
Hyperactivity, Ataxia, Aggressive behavior, Tremor, Frontal upsweep of hair, Spasticity OMIM:300983
Bullous Dystrophy, Hereditary Macular Type
Alopecia totalis, Abnormality of the nail OMIM:302000
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Brittle hair, Sparse eyelashes, Abnormality of hair texture, Sparse eyebrow, Progressive hypotric... OMIM:225060
Atypical Rett Syndrome
Restrictive behavior, Dystonia, Involuntary movements, Tremor, Inability to walk, Tongue thrustin... ORPHA:3095
Sjögren-Larsson Syndrome
Erythema, Abnormal pyramidal sign, Spastic diplegia, Urticaria, Hyperkeratosis, Ichthyosis, Spast... ORPHA:816
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Hyperalaninemia, Limb ataxia, Hyperammonemia, Truncal ataxia OMIM:619051
Combined Oxidative Phosphorylation Deficiency 10
Hyperalaninemia, Spasticity, Hyperammonemia, Dystonia OMIM:614702
Spinocerebellar Ataxia, Autosomal Recessive 13
Cerebellar atrophy, Dilated fourth ventricle, Ataxia, Tremor, Inability to walk, Abnormal pyramid... OMIM:614831
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement
Tremor, Chorea, Unsteady gait, Hemiballismus, Frequent falls ORPHA:494526
Trichothiodystrophy 5, Nonphotosensitive
Brittle hair, Slow-growing hair, Cutis marmorata, Progeroid facial appearance, Sparse eyebrow, Re... OMIM:300953
Combined Oxidative Phosphorylation Deficiency 5
Death in infancy, Hyperammonemia OMIM:611719
Citrullinemia Type Ii
Elevated hepatic transaminase, Decreased HDL cholesterol concentration, Acute hyperammonemia, Hyp... ORPHA:247585
Intermediate Generalized Junctional Epidermolysis Bullosa
Scarring alopecia of scalp, Anonychia, Nail dystrophy, Sparse body hair ORPHA:79402
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Cerebellar atrophy, Ataxia, Tremor, Babinski sign, Gait ataxia, Abnormality of extrapyramidal mot... OMIM:615362
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Cerebellar vermis hypoplasia, Elevated circulating creatine kinase concentration, Elevated circul... ORPHA:228308
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7
Restlessness, Aggressive behavior, Rigidity, Babinski sign, Inappropriate behavior, Disinhibition... OMIM:600795
Microphthalmia, Syndromic 8
Premature skin wrinkling OMIM:601349
Spinocerebellar Ataxia 48
Cerebellar atrophy, Ataxia, Parkinsonism, Tremor, Chorea, Babinski sign, Dysmetria, Gait ataxia, ... OMIM:618093
Olmsted Syndrome 1
Subungual hyperkeratosis, Parakeratosis, Hyperparakeratosis, Periorificial hyperkeratosis, Palmop... OMIM:614594
Infantile Liver Failure Syndrome 2
Elevated hepatic transaminase, Jaundice, Acute hepatic failure, Hyperammonemia OMIM:616483
Dystonia 28, Childhood-Onset
Torticollis, Tremor, Tip-toe gait, Gait disturbance, Myoclonus, Retrocollis, Dystonia, Oromandibu... OMIM:617284
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Hyperammonemia, Pallor, Hyperuricemia, Myoclonus, Spasticity OMIM:246450
Pontocerebellar Hypoplasia, Type 11
Broad-based gait, Ataxia, Hypoplasia of the pons, Inability to walk, Poor coordination, Limb atax... OMIM:617695
Cholestasis, Progressive Familial Intrahepatic, 5
Conjugated hyperbilirubinemia, Hyperammonemia, Elevated circulating alpha-fetoprotein concentrati... OMIM:617049
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Waddling gait, Abnormal circulating enzyme concentration or activity, Tremor, Inability to walk, ... ORPHA:2590
Tetraamelia With Ectodermal Dysplasia And Lacrimal Duct Abnormalities
Sparse hair, Ectodermal dysplasia OMIM:273390
Smith-Magenis syndrome
Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation DECIPHER:8
Parkinson Disease 15, Autosomal Recessive Early-Onset
Lower limb spasticity, Parkinsonism, Tremor, Rigidity, Babinski sign, Scissor gait, Bradykinesia,... OMIM:260300
Symmetrical Thalamic Calcifications
Spasticity, Hypertonia, Ataxia, Abnormality of neuronal migration ORPHA:1314
Autosomal Recessive Cutis Laxa Type 2A
Ataxia, Thick hair, Progeroid facial appearance, Inability to walk, Slurred speech, Excessive wri... ORPHA:357058
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive
Elevated hepatic transaminase, Alopecia, Decreased circulating ceruloplasmin concentration, Decre... OMIM:242150
Ectodermal Dysplasia 11A, Hypohidrotic/Hair/Tooth Type, Autosomal Dominant
Brittle hair, Absent nipple, Hypohidrotic ectodermal dysplasia, Sparse hair, Dry skin, Absent hair OMIM:614940
Spinocerebellar Ataxia Type 27
Cerebellar atrophy, Akinesia, Aggressive behavior, Tremor, Hand tremor, Limb ataxia, Gait ataxia,... ORPHA:98764
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Tremor, Dysmetria, Gait ataxia, Compulsive behaviors, Ataxia, Limb fasciculations, Spastic parapa... OMIM:615157
Acquired Partial Lipodystrophy
Generalized hirsutism, Progeroid facial appearance ORPHA:79087
Pseudoprogeria Syndrome
Absent eyebrow, Alopecia, Absent eyelashes, Sparse eyebrow, Sparse hair ORPHA:2985
Cardiofaciocutaneous Syndrome 2
Sparse hair, Curly hair, Absent eyebrow, Fine hair OMIM:615278
Spinocerebellar Ataxia Type 14
Tremor, Rigidity, Limb ataxia, Gait ataxia, Progressive cerebellar ataxia, Myoclonus, Cerebellar ... ORPHA:98763
Ectodermal Dysplasia-Sensorineural Deafness Syndrome
Brittle hair, Hyperkeratosis, Coarse hair, Sparse hair, Hidrotic ectodermal dysplasia ORPHA:1883
Severe Intellectual Disability And Progressive Spastic Paraplegia
Cerebellar atrophy, Waddling gait, Babinski sign, Spastic dysarthria, Difficulty walking, Dystoni... ORPHA:280763
Polymicrogyria Due To Tubb2B Mutation
Cerebellar atrophy, Hypoplasia of the pons, Oromotor apraxia, Perisylvian polymicrogyria, Hemipar... ORPHA:300573
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Elevated hepatic transaminase, Speech apraxia, Clonus, Poor coordination, Abnormal pyramidal sign... ORPHA:415
Carnitine Deficiency, Systemic Primary
Elevated circulating aspartate aminotransferase concentration, Elevated circulating creatine kina... OMIM:212140
Spinocerebellar Ataxia 7
Tremor, Chorea, Babinski sign, Dysmetria, Progressive cerebellar ataxia, Abnormality of extrapyra... OMIM:164500
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Torticollis, Ataxia, Tremor, Chorea, Hyperkinetic movements, Dystonia OMIM:618425
Peeling Skin Syndrome 4
Hyperkeratosis, Palmoplantar keratoderma, Scaling skin, Nail dystrophy, Ichthyosis, Orthokeratosis OMIM:607936
Cog7-Cdg
Elevated hepatic transaminase, Excessive wrinkled skin, Jaundice, Elevated circulating creatine k... ORPHA:79333
Hypotrichosis With Juvenile Macular Degeneration
Sparse scalp hair, Brittle hair, Fine hair, Hyperkeratosis, Pili torti ORPHA:1573
Lessel-Kubisch Syndrome
Sparse pubic hair, Premature graying of hair OMIM:618681
Glycosylphosphatidylinositol Biosynthesis Defect 25
Sparse hair, Coarse hair OMIM:619985
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity, Abnormal repetitive mannerisms OMIM:300271
Palmoplantar Keratoderma I, Striate, Focal, Or Diffuse
Hypergranulosis, Yellow nails, Palmoplantar hyperkeratosis, Orthokeratotic hyperkeratosis, Palmop... OMIM:148700
Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To
Ataxia, Elevated circulating aspartate aminotransferase concentration, Elevated circulating uraci... OMIM:311250
Hyperphenylalaninemia, Bh4-Deficient, C
Dystonia, Tremor, Dysphagia, Choreoathetosis, Hypertonia, Myoclonus, Hyperphenylalaninemia OMIM:261630
Behavioral Variant Of Frontotemporal Dementia
Restrictive behavior, Collectionism, Restlessness, Aggressive behavior, Inappropriate behavior, A... ORPHA:275864
Lichen Planopilaris
Alopecia, Abnormal fingernail morphology, Hepatitis, Skin ulcer, Hyperkeratosis, Onycholysis ORPHA:525
Jaberi-Elahi Syndrome
Appendicular spasticity, Broad-based gait, Brittle hair, Sparse eyelashes, Sparse eyebrow, Tremor... OMIM:617988
Dystonia 12
Torticollis, Parkinsonism, Tremor, Unsteady gait, Dysphagia, Bradykinesia, Dystonia OMIM:128235
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Hyperactivity, Tremor, Inability to walk, Self-injurious behavior, Bruxism, Spasticity, Abnormal ... OMIM:618718
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome
Sparse scalp hair, Sparse eyelashes, Portal hypertension, Sparse eyebrow, Scarring alopecia of sc... ORPHA:59303
Brunet-Wagner Neurodevelopmental Syndrome
Cerebellar atrophy, Low anterior hairline, Self-injurious behavior, Thin eyebrow, Abnormal repeti... OMIM:619690
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset
Cerebellar atrophy, Ataxia, Tremor, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Limb ataxia,... OMIM:617145
Corpus Callosum, Agenesis Of, With Facial Anomalies And Cerebellar Ataxia
Thick eyebrow, Cerebellar vermis hypoplasia, Ataxia, Low anterior hairline, Long eyelashes, Cereb... OMIM:616819
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia
Tremor, Agitation, Myoclonus, Compulsive behaviors, Dystonia OMIM:619651
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Hyperactivity, Ataxia, Aggressive behavior, Tremor, Choreoathetosis, Transient hyperphenylalanine... OMIM:612716
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features
Parakeratosis, Ataxia, Tremor, Babinski sign, Spastic paraplegia, Dysmetria, Hyperkeratosis, Icht... OMIM:618527
Heyn-Sproul-Jackson Syndrome
Sparse hair OMIM:618724
Erythrokeratodermia Variabilis Et Progressiva 3
Hypergranulosis, Erythema, Leukonychia, Hyperkeratosis, Palmoplantar keratoderma, Orthokeratosis OMIM:617525
Nodular Neuronal Heterotopia
Abnormality of neuronal migration ORPHA:2149
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy
Ridged nail, Alopecia, Nail dystrophy, Nail pits OMIM:601705
Spinocerebellar Ataxia 23
Cerebellar atrophy, Tremor, Babinski sign, Dysmetria, Gait ataxia, Limb ataxia OMIM:610245
Localized Junctional Epidermolysis Bullosa
Sparse axillary hair, Sparse pubic hair, Scarring alopecia of scalp, Atrophic, patchy alopecia, N... ORPHA:251393
Spinocerebellar Ataxia 42
Cerebellar atrophy, Spastic ataxia, Ataxia, Tremor, Loss of Purkinje cells in the cerebellar verm... OMIM:616795
Autosomal Spastic Paraplegia Type 58
Cerebellar atrophy, Spastic ataxia, Torticollis, Clonus, Tremor, Chorea, Babinski sign, Abnormal ... ORPHA:397946
Bazex Syndrome
Parakeratosis, Yellow nails, Hyperkeratosis, Palmoplantar keratoderma, Scaling skin, Nail dystrop... ORPHA:166113
Shukla-Vernon Syndrome
Cerebellar atrophy, Broad-based gait, Impulsivity, Aggressive behavior, Attention deficit hyperac... OMIM:301029
Behr Syndrome
Cerebellar atrophy, Ataxia, Tremor, Babinski sign, Unsteady gait, Dysmetria, Dysphagia, Gait dist... OMIM:210000
Autosomal Dominant Hypohidrotic Ectodermal Dysplasia
Sparse hair, Abnormal fingernail morphology, Sparse body hair ORPHA:1810
Parkinsonism-Dystonia 1, Infantile-Onset
Dystonia, Parkinsonism, Oculogyric crisis, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Cog... OMIM:613135
Myopathy With Extrapyramidal Signs
Extremely elevated creatine kinase, Elevated hepatic transaminase, Hyperactivity, Ataxia, Elevate... OMIM:615673
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy
Death in infancy, Hyperammonemia ORPHA:1194
Xq27.3Q28 Duplication Syndrome
Sparse body hair ORPHA:261483
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features
Speech apraxia, Aggressive behavior, Self-injurious behavior, Compulsive behaviors, Attention def... OMIM:613670
Intellectual Developmental Disorder, Autosomal Recessive 5
Broad-based gait, Elevated circulating creatine kinase concentration, Synophrys, Hypertonia, Spar... OMIM:611091
Developmental And Epileptic Encephalopathy 64
Paroxysmal dystonia, Highly arched eyebrow, Sparse eyebrow, Inability to walk, Chorea, Low anteri... OMIM:618004
Lissencephaly 6 With Microcephaly
Cerebellar atrophy, Periventricular heterotopia, Synophrys, Simplified gyral pattern, Microlissen... OMIM:616212
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Postural tremor, Tremor, Rigidity, Babinski sign, Bradykinesia, Gait disturbance, Myoclonus, Dyst... ORPHA:314632
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Plantar telangiectasia, Sparse scalp hair, Alopecia, Absent eyebrow, Cutis marmorata, Absent eyel... ORPHA:69735
Autosomal Recessive Cutis Laxa Type 2, Classic Type
Redundant neck skin, Redundant skin, Thick hair, Abnormal subcutaneous fat tissue distribution, P... ORPHA:357074
Odontoonychodermal Dysplasia
Ridged nail, Sparse scalp hair, Plantar hyperkeratosis, Dry hair, Short nail, Hypergranulosis, Th... OMIM:257980
Hypermanganesemia With Dystonia 2
Cerebellar atrophy, Hypermanganesemia, Generalized dystonia, Elevated circulating creatine kinase... OMIM:617013
Alopecia-Intellectual Disability Syndrome
Sparse scalp hair, Alopecia, Ichthyosis, Sparse body hair, Aplasia/Hypoplasia of the eyebrow ORPHA:2850
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Resting tremor, Ataxia, Parkinsonism, Chorea, Cogwheel rigidity, Bradykinesia, Myoclonus, Attenti... OMIM:619725
Tyrosinosis
Hypertyrosinemia OMIM:276800
Autosomal Dominant Epidermolytic Ichthyosis
Skin ulcer, Hyperkeratosis, Congenital bullous ichthyosiform erythroderma, Palmoplantar keratoder... ORPHA:312
Lmna-Related Cardiocutaneous Progeria Syndrome
Absent eyebrow, Absent eyelashes, Premature graying of hair, Sparse hair, Premature skin wrinklin... ORPHA:363618
Severe Neurodegenerative Syndrome With Lipodystrophy
Reduced subcutaneous adipose tissue, Hypertriglyceridemia, Ataxia, Poor motor coordination, Tremo... ORPHA:363400
Wolcott-Rallison Syndrome
Hyponatremia, Acute hepatic failure, Elevated hepatic transaminase, Jaundice, Hyperammonemia, Hyp... ORPHA:1667
Beta-Ketothiolase Deficiency
Ataxia, Anorexia, Hyperammonemia, Agitation, Hyperuricemia, Extrapyramidal dyskinesia, Oral avers... ORPHA:134
Biotinidase Deficiency
Alopecia, Ataxia, Myelopathy, Hyperammonemia, Spastic paraparesis, Decreased circulating biotinid... ORPHA:79241
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Cerebellar atrophy, Oculogyric crisis, Tremor, Inability to walk, Difficulty walking, Dystonia ORPHA:330050
Lamellar Ichthyosis
Lack of skin elasticity, Hyperkeratosis, Ichthyosis, Sparse hair, Dry skin, Abnormality of the na... ORPHA:313
Nicolaides-Baraitser Syndrome
Absent eyebrow, Dry hair, Sparse scalp hair, Low anterior hairline, Low posterior hairline, Gait ... OMIM:601358
Parkinsonism-Dystonia 3, Childhood-Onset
Cerebellar atrophy, Ataxia, Parkinsonism, Aggressive behavior, Tremor, Chorea, Dysphagia, Hyperto... OMIM:619738
Cog5-Cdg
Elevated hepatic transaminase, Abnormality of the frontal hairline, Premature skin wrinkling, Tru... ORPHA:263487
Lissencephaly 5
Occipital encephalocele, Cerebellar vermis hypoplasia, Hydrocephalus, Subcortical band heterotopi... OMIM:615191
Congenital Short Bowel Syndrome
Sparse hair ORPHA:2301
Glycosylphosphatidylinositol Biosynthesis Defect 15
Cerebellar atrophy, Tremor, Inability to walk, Dysmetria, Gait ataxia, Cerebellar hypoplasia, Apr... OMIM:617810
Corticobasal Syndrome
Speech apraxia, Dystonia, Parkinsonism, Limb apraxia, Involuntary movements, Tremor, Akinesia, Or... ORPHA:454887
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Hyponatremia, Decreased circulating renin level, Reduced blood urea nitrogen, Decreased serum cre... OMIM:300539
Parkinson Disease 2, Autosomal Recessive Juvenile
Parkinsonism, Tremor, Rigidity, Bradykinesia, Gait disturbance, Dystonia OMIM:600116
X-Linked Hypohidrotic Ectodermal Dysplasia
Sparse hair, Sparse body hair, Aplasia/Hypoplasia of the eyebrow ORPHA:181
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia
Sparse scalp hair, Alopecia, Abnormal fingernail morphology, Hypoplastic toenails, Fingernail dys... ORPHA:2325
Developmental Delay, Behavioral Abnormalities, And Neuropsychiatric Disorders
Periventricular nodular heterotopia, Abnormal repetitive mannerisms, Attention deficit hyperactiv... OMIM:620065
Sialidosis Type 1
Ataxia, Tremor, Slurred speech, Hyperkeratosis, Aminoaciduria, Gait disturbance, Myoclonus, Vascu... ORPHA:812
Peroxisome Biogenesis Disorder 5B
Cerebellar atrophy, Ataxia, Tremor, Unsteady gait, Elevated circulating phytanic acid concentrati... OMIM:614867
Epilepsy, Progressive Myoclonic, 6
Ataxia, Elevated circulating creatine kinase concentration, Tremor, Myoclonus, Difficulty walking... OMIM:614018
Hsd10 Disease
Ataxia, Tremor, Rigidity, Dysphagia, Choreoathetosis, Abnormal urinary acylglycine profile, Gait ... ORPHA:391417
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Parakeratosis, Alopecia, Sparse eyelashes, Thick hair, Portal hypertension, Sparse eyebrow, Jaund... OMIM:607626
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia
Ridged nail, Absent eyebrow, Sparse scalp hair, Sparse eyelashes, Poor wound healing, Sparse eyeb... ORPHA:1010
Pili Torti
Abnormal eyebrow morphology, Alopecia, Brittle hair, Abnormality of hair texture, Abnormality of ... ORPHA:2889
Thanatophoric Dysplasia, Glasgow Variant
Neonatal death OMIM:273680
Alpha-N-Acetylgalactosaminidase Deficiency Type 1
Hemiplegia/hemiparesis, Abnormal pyramidal sign, Hyperkeratosis, Abnormality of extrapyramidal mo... ORPHA:79279
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Death in infancy, Elevated circulating creatine kinase concentration, Hyperammonemia OMIM:201475
Cln5 Disease
Cerebellar atrophy, Hyperactivity, Abnormal central motor function, Ataxia, Aggressive behavior, ... ORPHA:228360
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Occipital encephalocele, Type II lissencephaly, Hydrocephalus, Gray matter heterotopia, Cerebella... ORPHA:352682
Dystonia 3, Torsion, X-Linked
Tremor, Chorea, Torsion dystonia, Myoclonus, Parkinsonism with favorable response to dopaminergic... OMIM:314250
Cerebral Arteriopathy, Autosomal Recessive, With Subcortical Infarcts And Leukoencephalopathy
Alopecia, Ataxia, Rigidity, Babinski sign, Abnormal pyramidal sign, Gait apraxia, Dysmetria, Abno... OMIM:600142
Filippi Syndrome
Cerebellar atrophy, Dystonia, Sparse hair, Frontal hirsutism, Hypertrichosis OMIM:272440
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome
Freezing of gait, Akinesia, Tremor, Rigidity, Unsteady gait, Neuromuscular dysphagia, Blepharospa... ORPHA:240094
Acyl-Coa Dehydrogenase 9 Deficiency
Acute hepatic failure, Elevated hepatic transaminase, Elevated circulating acylcarnitine concentr... ORPHA:99901
Spinocerebellar Ataxia 50
Cerebellar atrophy, Postural tremor, Ataxia, Chorea, Myoclonus, Head tremor, Apraxia, Cerebellar ... OMIM:620158
Gomez-Lopez-Hernandez Syndrome
Fusion of the cerebellar hemispheres, Alopecia, Agenesis of cerebellar vermis, Cerebellar vermis ... OMIM:601853
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Cerebellar atrophy, Incoordination, Tremor, Paraparesis, Babinski sign, Dysmetria, Hand tremor, T... OMIM:302800
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones
Progeroid facial appearance, Sparse facial hair, Sparse axillary hair OMIM:608154
Histidinemia
Histidinuria, Hyperhistidinemia OMIM:235800
Gand Syndrome
Sparse hair OMIM:615074
Christianson Syndrome
Cerebellar atrophy, Dystonia, Dysphagia, Gait ataxia, Inappropriate laughter, Truncal ataxia, Apl... ORPHA:85278
Neurodegeneration With Brain Iron Accumulation 3
Ataxia, Writer's cramp, Parkinsonism, Tremor, Rigidity, Chorea, Babinski sign, Spasticity, Dyspha... OMIM:606159
Hoyeraal-Hreidarsson Syndrome
Sparse scalp hair, Premature graying of hair, Excessive wrinkled skin, Nail dystrophy, Generalize... ORPHA:3322
Hydrocephalus-Obesity-Hypogonadism Syndrome
Sparse facial hair, Absent facial hair, Low posterior hairline ORPHA:2183
Vohwinkel Syndrome, Variant Form
Parakeratosis, Hypergranulosis, Honeycomb palmoplantar hyperkeratosis, Hyperkeratosis, Orthokerat... OMIM:604117
Hereditary Arterial And Articular Multiple Calcification Syndrome
Decreased serum creatinine ORPHA:289601
Ramon Syndrome
Hyperkeratosis, Telangiectasia of the skin, Generalized hirsutism ORPHA:3019
Ifap Syndrome 2
Sparse hair, Perioral erythema, Nail dystrophy, Atrichia OMIM:619016
Cystinosis, Adult Nonnephropathic
Elevated circulating creatinine concentration OMIM:219750
Epilepsy, Progressive Myoclonic, 1B
Ataxia, Tremor, Babinski sign, Dysmetria, Myoclonus OMIM:612437
Eem Syndrome
Sparse scalp hair, Absent eyebrow, Sparse body hair ORPHA:1897
3-Hydroxy-3-Methylglutaric Aciduria
Elevated hepatic transaminase, Ataxia, Spastic hemiparesis, Jaundice, Hyperammonemia, Pallor, Hyp... ORPHA:20
Bazex-Dupre-Christol Syndrome
Coarse hair, Sparse hair, Trichoepithelioma, Pili torti, Trichorrhexis nodosa OMIM:301845
Carnitine-Acylcarnitine Translocase Deficiency
Elevated hepatic transaminase, Cyanosis, Elevated circulating acylcarnitine concentration, Hypera... ORPHA:159
Tricho-Retino-Dento-Digital Syndrome
Uncombable hair, Sparse hair ORPHA:1264
Barber-Say Syndrome
Dermal translucency, Absent nipple, Sparse eyelashes, Redundant skin, Sparse eyebrow, Low anterio... OMIM:209885
Hereditary Sensory And Autonomic Neuropathy Type 1
Poor wound healing, Inability to walk, Penetrating foot ulcers, Skin ulcer, Hyperkeratosis, Stepp... ORPHA:36386
Ectodermal Dysplasia 10B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive
Sparse eyelashes, Sparse eyebrow, Hypohidrotic ectodermal dysplasia, Periorbital wrinkles, Sparse... OMIM:224900
Progressive Supranuclear Palsy-Corticobasal Syndrome
Involuntary movements, Limb apraxia, Tremor, Rigidity, Abnormal pyramidal sign, Dysphagia, Focal ... ORPHA:240103
Ichthyosis, Spastic Quadriplegia, And Impaired Intellectual Development
Erythema, Spastic tetraplegia, Hyperkeratosis, Scaling skin, Congenital nonbullous ichthyosiform ... OMIM:614457
Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, And Other Abnormalities
Sparse hair, Ectodermal dysplasia, Hypoplastic nipples, Small nail OMIM:273400
Mednik Syndrome
Decreased circulating ceruloplasmin concentration, Decreased circulating copper concentration, In... ORPHA:171851
Ichthyosis Hystrix, Curth-Macklin Type
Hyperkeratotic papule, Scaling skin, Palmoplantar keratoderma, Fragile skin OMIM:146590
Cole Disease
Hypergranulosis, Punctate palmoplantar hyperkeratosis, Hyperkeratosis, Palmoplantar keratoderma, ... OMIM:615522
Infantile Cataract, Skin Abnormalities, Glutamate Excess, And Impaired Intellectual Development
Hyperkeratosis, Parakeratosis, Agitation, Self-injurious behavior OMIM:618339
Rhizomelic Chondrodysplasia Punctata, Type 1
Alopecia, Elevated circulating phytanic acid concentration, Spasticity, Ichthyosis OMIM:215100
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Abnormal circulating acylcarnitine concentration, Acute hepatic failure, Elevated hepatic transam... ORPHA:71212
Linear Verrucous Nevus Syndrome
Hyperkeratosis, Sparse scalp hair, Dandy-Walker malformation, Hypophosphatemia ORPHA:2611
Rodrigues Blindness
Sparse hair, Ectodermal dysplasia, Fine hair OMIM:268320
Spinocerebellar Ataxia, Autosomal Recessive 21
Tremor, Limb ataxia, Gait ataxia, Spasticity, Frequent falls, Hepatic failure, Cerebellar vermis ... OMIM:616719
Keratosis Follicularis Spinulosa Decalvans, X-Linked
Sparse eyelashes, Sparse eyebrow, Scarring alopecia of scalp, Facial erythema, Palmoplantar kerat... OMIM:308800
Irida Syndrome
Decreased circulating copper concentration, Intrahepatic cholestasis, Hyperkeratosis, Pallor, Ich... ORPHA:209981
Peeling Skin With Leukonychia, Acral Punctate Keratoses, Cheilitis, And Knuckle Pads
Acantholysis, Punctate palmoplantar hyperkeratosis, Leukonychia, Hyperkeratosis, Onycholysis, Sca... OMIM:616295
Chromosome 3Q29 Deletion Syndrome
Hyperactivity, Abnormal repetitive mannerisms, Aggressive behavior, Gait ataxia OMIM:609425
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency
Cerebellar atrophy, Tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia, Myoclonus, Dy... ORPHA:139485
Holocarboxylase Synthetase Deficiency
Alopecia, Hypertonia, Hyperammonemia OMIM:253270
Infantile Liver Failure Syndrome 3
Acute hepatic failure, Jaundice, Hyperammonemia, Elevated hepatic transaminase OMIM:618641
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Cerebellar atrophy, Dystonia, Ataxia, Elevated circulating creatine kinase concentration, Tremor,... OMIM:208920
Idiopathic Trachyonychia
Ridged nail, Thin nail, Concave nail, Nail pits, Patchy alopecia, Nail dystrophy, Fingernail dysp... ORPHA:79153
Pachyonychia Congenita
Alopecia, Paronychia, Onychogryposis of toenails, Linear arrays of macular hyperkeratoses in flex... ORPHA:2309
Acrokeratosis Verruciformis Of Hopf
Parakeratosis, Hypergranulosis, Acantholysis, Punctate palmoplantar hyperkeratosis, Leukonychia, ... ORPHA:79151
Developmental And Epileptic Encephalopathy 6B
Ataxia, Inability to walk, Chorea, Choreoathetosis, Hyperkinetic movements, Myoclonus, Dystonia, ... OMIM:619317
Lysinuric Protein Intolerance
Hypolysinemia, Increased circulating ferritin concentration, Hyperammonemia, Cutis laxa, Fine hai... OMIM:222700
Cutis Laxa, Autosomal Recessive, Type Iia
Brittle hair, Redundant skin, Abnormality of hair texture, Cutis laxa, Excessive wrinkled skin, C... OMIM:219200
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Hypoplasia of the pons, Inability to walk, Synophrys, Low anterior hairline, Long eyelashes, Myoc... ORPHA:411986
Atypical Progressive Supranuclear Palsy Syndrome
Speech apraxia, Freezing of gait, Extrapyramidal muscular rigidity, Parkinsonism, Tremor, Rigidit... ORPHA:99750
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia
Alopecia, Abnormal fingernail morphology, Abnormal hair morphology, Fine hair, Abnormal toenail m... ORPHA:248
Hypermanganesemia With Dystonia 1
Elevated hepatic transaminase, Hypermanganesemia, Dystonia, Parkinsonism, Tremor, Rigidity, Brady... OMIM:613280
Spinocerebellar Ataxia 2
Cerebellar atrophy, Dilated fourth ventricle, Ataxia, Parkinsonism, Postural tremor, Rigidity, Ba... OMIM:183090
Lipodystrophy, Familial Partial, Type 7
Reduced subcutaneous adipose tissue, Sparse scalp hair, Hypertriglyceridemia, Decreased adipose t... OMIM:606721
Neurocutaneous Melanocytosis
Thickened skin, Meningocele, Abnormality of neuronal migration, Hemiparesis, Chiari malformation,... ORPHA:2481
Recessive X-Linked Ichthyosis
Hyperkeratosis, Attention deficit hyperactivity disorder, Ichthyosis ORPHA:461
Mitochondrial Trifunctional Protein Deficiency 1
Elevated hepatic transaminase, Elevated circulating aspartate aminotransferase concentration, Ele... OMIM:609015
Intellectual Developmental Disorder, X-Linked 12
Cerebellar vermis hypoplasia, Tremor, Abnormal cerebellum morphology, Abnormality of neuronal mig... OMIM:300957
Dystrophic Epidermolysis Bullosa Pruriginosa
Hyperkeratosis, Abnormal toenail morphology, Nail dystrophy ORPHA:89843
Ichthyosis, Congenital, Autosomal Recessive 6
Parakeratosis, Hyperkeratosis, Palmoplantar keratoderma, Generalized ichthyosis, Congenital nonbu... OMIM:612281
Bilateral Striopallidodentate Calcinosis
Abnormality of neuronal migration, Subcutaneous hemorrhage ORPHA:1980
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism
Acanthosis nigricans, Cerebellar atrophy, Sparse hair, Elevated hepatic transaminase OMIM:268020
Congenital Disorder Of Glycosylation, Type Im
Alopecia, Sparse eyelashes, Increased circulating free fatty acid level, Sparse eyebrow, Tetraple... OMIM:610768
Werner Syndrome
Hypertriglyceridemia, Prematurely aged appearance, Elevated circulating aspartate aminotransferas... OMIM:277700
Atrophoderma Vermiculata
Erythema, Hyperkeratotic papule, Follicular hyperkeratosis ORPHA:79100
Autosomal Recessive Cerebelloparenchymal Disorder Type 3
Cerebellar atrophy, Dilated fourth ventricle, Ataxia, Poor motor coordination, Tremor, Dysmetria,... ORPHA:1170
Fg Syndrome 3
Sparse hair, Frontal upsweep of hair, Fine hair OMIM:300406
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy
Elevated circulating creatine kinase concentration, Tremor, Tongue fasciculations, Myoclonus, Dys... OMIM:159950
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Tremor, Rigidity, Neuromuscular dysphagia, Bradykinesia, Falls, Dystonia, Parkinsonism with favor... ORPHA:240085
Trichothiodystrophy 4, Nonphotosensitive
Brittle hair, Sparse eyelashes, Concave nail, Abnormality of hair texture, Nail dystrophy, Small ... OMIM:234050
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome
Cerebellar atrophy, Spastic ataxia, Tremor, Abnormal cerebellum morphology, Babinski sign, Slurre... ORPHA:137898
Geroderma Osteodysplasticum
Premature skin wrinkling, Neonatal wrinkled skin of hands and feet, Progeroid facial appearance, ... OMIM:231070
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Lower limb spasticity, Resting tremor, Hyperactivity, Broad-based gait, Parkinsonism, Anorexia, A... ORPHA:3077
Ichthyosis, Congenital, Autosomal Recessive 8
Hypergranulosis, Erythema, Hyperkeratosis, Ichthyosis, Orthokeratosis OMIM:613943
Lipoid Proteinosis
Dystonia, Thickened skin, Hyperkeratosis, Dysphagia, Alopecia of scalp ORPHA:530
Developmental Delay And Seizures With Or Without Movement Abnormalities
Ataxia, Tremor, Rigidity, Chiari type I malformation, Bradykinesia, Dystonia OMIM:617836
Neurodevelopmental Disorder With Spasticity, Seizures, And Brain Abnormalities
Appendicular spasticity, Cerebral palsy, Cerebellar vermis hypoplasia, Simplified gyral pattern, ... OMIM:620001
Peeling Skin Syndrome 5
Hyperkeratosis, Scaling skin OMIM:617115
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Methylmalonic acidemia, Hyperglycinemia, Hyperammonemia OMIM:251000
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To
Hyperglutaminemia, Low plasma citrulline, Hyperammonemia, Hyperprolinemia, Hypoornithinemia, Hype... OMIM:615751
Beta-Propeller Protein-Associated Neurodegeneration
Cerebellar atrophy, Dystonia, Parkinsonism, Aggressive behavior, Rigidity, Tremor, Bradykinesia, ... ORPHA:329284
Cutis Laxa, Autosomal Recessive, Type Iiib
Prominent superficial veins, Cutis laxa, Fine hair, Excessive wrinkled skin, Sparse hair, Dermal ... OMIM:614438
Spinocerebellar Ataxia, Autosomal Recessive 31
Ataxia, Tremor, Bruxism, Dysphagia, Choreoathetosis, Cerebellar hypoplasia, Dystonia, Self-mutila... OMIM:619422
Trichothiodystrophy 1, Photosensitive
Brittle hair, Trichoschisis, Dry skin, Telangiectasia, Fine hair, Hyperkeratosis, Fragile nails, ... OMIM:601675
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Decreased serum creatinine, Hypohomocysteinemia, Hypocystinemia OMIM:617744
Alopecia-Intellectual Disability Syndrome 4
Alopecia, Agitation, Ichthyosis OMIM:618840
Leopard Syndrome 3
Curly hair, Epidermal hyperkeratosis, Low posterior hairline, Hyperkeratosis, Dry skin OMIM:613707
Epidermolysis Bullosa, Junctional 1A, Intermediate
Plantar hyperkeratosis, Patchy alopecia, Nail dystrophy, Fragile nails OMIM:226650
Kufor-Rakeb Syndrome
Torticollis, Ataxia, Parkinsonism, Akinesia, Aggressive behavior, Tremor, Rigidity, Paraparesis, ... OMIM:606693
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome
Cerebellar atrophy, Tremor, Dysmetria, Gait ataxia, Elevated circulating alkaline phosphatase con... ORPHA:529665
Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination
Spasticity, Abnormal repetitive mannerisms, Difficulty walking OMIM:617393
Amelo-Onycho-Hypohidrotic Syndrome
Abnormal fingernail morphology, Hypoplastic toenails, Fine hair, Hyperkeratosis, Onycholysis, Dry... ORPHA:1028
Adams-Oliver Syndrome 2
Alopecia, Low anterior hairline, Retrocerebellar cyst, Cerebellar hypoplasia, Small nail, Polymic... OMIM:614219
Hypotrichosis 5
Alopecia, Sparse eyelashes, Abnormal sweat gland morphology, Absent pubic hair, Thin eyebrow, Abs... OMIM:612841
Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome
Sparse scalp hair, Alopecia, Sparse eyebrow, Fine hair, Dystrophic fingernails, Dystrophic toenail ORPHA:1882
Spinocerebellar Ataxia With Epilepsy
Acute hepatic failure, Tremor, Dysmetria, Gait ataxia, Progressive cerebellar ataxia, Dysdiadocho... ORPHA:254881
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6
Elevated circulating creatine kinase concentration, Babinski sign, Abnormality of neuronal migrat... OMIM:608840
Late-Infantile/Juvenile Krabbe Disease
Abnormal circulating enzyme concentration or activity, Lower limb spasticity, Ataxia, Tremor, Slu... ORPHA:206443
Edinburgh Malformation Syndrome
Synophrys, Hydrocephalus, Abnormality of neuronal migration, Low posterior hairline, Hypertonia, ... ORPHA:1895
Blepharocheilodontic Syndrome 1
Nail dysplasia, Small nail, Sparse hair, High anterior hairline, Distichiasis OMIM:119580
Syndromic Recessive X-Linked Ichthyosis
Hyperkeratosis, Lissencephaly, Attention deficit hyperactivity disorder, Ichthyosis ORPHA:281090
Epidermolysis Bullosa Simplex With Circinate Migratory Erythema
Parakeratosis, Palmoplantar hyperkeratosis, Skin fragility with non-scarring blistering, Nail dys... ORPHA:158681
Hereditary Mucoepithelial Dysplasia
Sparse hair, Hyperkeratosis, Alopecia, Fine hair ORPHA:1839
Rhizomelic Chondrodysplasia Punctata
Alopecia, Dry skin, Sparse body hair ORPHA:177
Adrenoleukodystrophy
Alopecia, Incoordination, Paraparesis, Spastic paraplegia, Slurred speech, Limb ataxia, Attention... OMIM:300100
Cataract-Intellectual Disability-Hypogonadism Syndrome
Abnormal toenail morphology, Prematurely aged appearance, Low posterior hairline ORPHA:1387
3-Hydroxyisobutyric Aciduria
Aminoaciduria, Abnormality of neuronal migration OMIM:236795
Juvenile Neuronal Ceroid Lipofuscinosis
Cerebellar atrophy, Abnormal circulating enzyme concentration or activity, Poor motor coordinatio... ORPHA:79264
X-Linked Dystonia-Parkinsonism
Resting tremor, Chorea, Torsion dystonia, Hand tremor, Focal dystonia, Blepharospasm, Bradykinesi... ORPHA:53351
Interstitial Lung And Liver Disease
Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino... OMIM:615486
Leigh Syndrome
Chorea, Choreoathetosis, Frontal hirsutism, Alopecia, Ataxia, Athetosis, Abnormal dentate nucleus... ORPHA:506
Cockayne Syndrome
Elevated hepatic transaminase, Reduced subcutaneous adipose tissue, Dry hair, Ataxia, Action trem... ORPHA:191
Cutis Laxa, Autosomal Dominant 3
Premature skin wrinkling, Cutis laxa, Dermal translucency OMIM:616603
Developmental And Epileptic Encephalopathy 107
Abnormal repetitive mannerisms OMIM:620033
Prolidase Deficiency
Abnormal fingernail morphology, Erythema, Low anterior hairline, Skin ulcer, Hyperkeratosis, Cuta... ORPHA:742
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Methylmalonic acidemia, Periventricular heterotopia, Elevated urinary aminoisobutyric acid, Beta-... OMIM:614105
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency
Bruising susceptibility, Elevated circulating creatine kinase concentration, Follicular hyperkera... ORPHA:300179
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Elevated hepatic transaminase, Elevated circulating creatine kinase concentration, Increased circ... ORPHA:26793
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2
Ataxia, Tremor, Hyperammonemia, Hyperalaninemia, Intention tremor OMIM:614052
Mitochondrial Complex Iii Deficiency, Nuclear Type 6
Acute hepatic failure, Hyperammonemia, Elevated hepatic transaminase OMIM:615453
Trichohepatoenteric Syndrome 2
Brittle hair, Uncombable hair, Sparse hair, Woolly hair, Trichorrhexis nodosa OMIM:614602
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant
Alopecia, Sparse eyelashes, Sparse eyebrow, Scarring alopecia of scalp, Palmoplantar keratoderma,... OMIM:612843
Citrullinemia, Classic
Hyperglutaminemia, Hyperammonemia, Episodic ammonia intoxication, Elevated plasma citrulline, Hyp... OMIM:215700
Naxos Disease
Subungual hyperkeratosis, Curly hair, Acantholysis, Sparse eyebrow, Diffuse palmoplantar hyperker... OMIM:601214
Methylmalonic Aciduria, Cbla Type
Methylmalonic acidemia, Tremor, Hyperammonemia, Hyperglycinemia, Decreased methylmalonyl-CoA muta... OMIM:251100
2Q23.1 Microdeletion Syndrome
Hyperactivity, Ataxia, Highly arched eyebrow, Synophrys, Paroxysmal bursts of laughter, Polyphagi... ORPHA:228402
Maternal Hyperthermia-Induced Birth Defects
Hypertonia, Abnormality of neuronal migration ORPHA:2216
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome
Dystonia, Parkinsonism, Tremor, Rigidity, Head titubation, Inability to walk, Gait ataxia, Choreo... OMIM:618877
Ichthyosis, Annular Epidermolytic, 2
Erythema, Palmoplantar hyperkeratosis, Palmoplantar keratoderma, Scaling skin, Ichthyosis, Orthok... OMIM:620148
Acalvaria
Spina bifida, Hydrocephalus, Abnormality of neuronal migration, Holoprosencephaly, Aplasia/Hypopl... ORPHA:945
Autism Spectrum Disorder Due To Auts2 Deficiency
Hyperactivity, Cerebral palsy, Highly arched eyebrow, Repetitive compulsive behavior, Hypertonia,... ORPHA:352490
Ichthyosis With Alopecia, Eclabium, Ectropion, And Mental Retardation
Alopecia, Ichthyosis OMIM:242510
Hypomelanosis Of Ito
Gray matter heterotopia, Alopecia OMIM:300337
Carnitine-Acylcarnitine Translocase Deficiency
Elevated hepatic transaminase, Elevated circulating creatine kinase concentration, Hyperammonemia OMIM:212138
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Resting tremor, Restlessness, Dystonia, Ataxia, Parkinsonism, Tremor, Babinski sign, Spastic para... OMIM:300055
Oculocerebrocutaneous Syndrome
Gray matter heterotopia, Alopecia, Dandy-Walker malformation OMIM:164180
Poretti-Boltshauser Syndrome
Dilated fourth ventricle, Cerebellar dysplasia, Cerebellar vermis hypoplasia, Gray matter heterot... OMIM:615960
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Cerebellar atrophy, Ataxia, Postural tremor, Tremor, Babinski sign, Dysmetria, Dysphagia, Dystoni... OMIM:607694
Congenital Disorder Of Glycosylation, Type Iil
Cerebellar atrophy, Elevated hepatic transaminase, Elevated circulating creatine kinase concentra... OMIM:614576
Fibrodysplasia Ossificans Progressiva
Alopecia ORPHA:337
Hyperphenylalaninemia, Bh4-Deficient, A
Dystonia, Ataxia, Parkinsonism, Tremor, Rigidity, Dysphagia, Choreoathetosis, Bradykinesia, Hyper... OMIM:261640
Menkes Disease
Alopecia, Brittle hair, Decreased circulating ceruloplasmin concentration, Babinski sign, Cutis l... OMIM:309400
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Tremor, Hyperkinetic movements, Upper limb spasticity, Gait disturbance, Abnormal repetitive mann... ORPHA:457240
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2
Prominent superficial veins, Kinetic tremor, Gait ataxia, Fine hair, Truncal ataxia, Sparse hair,... OMIM:616817
Band Heterotopia
Hydrocephalus, Subcortical band heterotopia, Gray matter heterotopia, Spasticity, Polymicrogyria OMIM:600348
Parkinsonism-Dystonia 2, Infantile-Onset
Incoordination, Ataxia, Oculogyric crisis, Parkinsonism, Tremor, Dysdiadochokinesis, Shuffling ga... OMIM:618049
Spastic Paraplegia 6, Autosomal Dominant
Lower limb spasticity, Clonus, Tremor, Babinski sign, Spastic paraplegia, Spastic gait OMIM:600363
Uncombable Hair Syndrome
Abnormal hair morphology, White hair, Coarse hair, Patchy alopecia, Trichodysplasia, Woolly hair ORPHA:1410
Porokeratosis 3, Multiple Types
Parakeratosis, Porokeratosis, Nail dystrophy OMIM:175900
Congenital Ichthyosiform Erythroderma
Alopecia, Palmoplantar keratoderma, Abnormality of the nail, Ichthyosis ORPHA:79394
Cardiofaciocutaneous Syndrome
Brittle hair, Slow-growing hair, Redundant skin, Abnormal eyelash morphology, Low posterior hairl... ORPHA:1340
Lysinuric Protein Intolerance
Hyperalaninemia, Decreased HDL cholesterol concentration, Elevated hepatic transaminase, Hypertri... ORPHA:470
Cronkhite-Canada Syndrome
Alopecia, Abnormal fingernail morphology, Anorexia, Hypoplastic toenails, Dystrophic toenail, Pat... ORPHA:2930
4H Leukodystrophy
Cerebellar atrophy, Ataxia, Tremor, Dysmetria, Dysphagia, Progressive gait ataxia, Dysdiadochokin... ORPHA:289494
Pityriasis Rubra Pilaris
Subungual hyperkeratosis, Parakeratosis, Hypergranulosis, Palmoplantar keratoderma, Orthokeratosis OMIM:173200
Cardiofaciocutaneous Syndrome 4
Absent eyebrow, Curly hair, Sparse eyelashes, Palmoplantar hyperkeratosis, Cerebellar hypoplasia,... OMIM:615280
Lymphatic Malformation 4
Hyperkeratosis, Prominent superficial veins, Toenail dysplasia OMIM:615907
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis
Alopecia, Sparse eyelashes, Elevated circulating creatine kinase concentration, Sparse eyebrow, N... OMIM:615704
Fontaine Progeroid Syndrome
Reduced subcutaneous adipose tissue, Sparse scalp hair, Dermal translucency, Absent nipple, Prema... OMIM:612289
Intellectual Developmental Disorder, Autosomal Dominant 48
Dilated fourth ventricle, Hyperactivity, Cerebellar vermis hypoplasia, Highly arched eyebrow, Syn... OMIM:617751
Myoclonic-Atonic Epilepsy
Tremor, Ataxia, Attention deficit hyperactivity disorder, Eyelid myoclonus OMIM:616421
Spinocerebellar Ataxia 8
Cerebellar atrophy, Incoordination, Tremor, Abnormal pyramidal sign, Progressive cerebellar ataxi... OMIM:608768
Alpha-Methylacyl-Coa Racemase Deficiency
Ataxia, Tremor, Elevated circulating phytanic acid concentration, Hemiparesis, Increased circulat... OMIM:614307
Ichthyosis Prematurity Syndrome
Dermatographic urticaria, Alopecia of scalp, Generalized ichthyosis, Follicular hyperkeratosis OMIM:608649
Dystonia 1, Torsion, Autosomal Dominant
Cerebellar atrophy, Torticollis, Generalized dystonia, Writer's cramp, Tremor, Inability to walk,... OMIM:128100
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Ataxia, Tremor, Gait ataxia, Hypertonia, Myoclonus, Abnormal repetitive mannerisms OMIM:619092
Congenital Enterovirus Infection
Hepatic failure, Hypoalbuminemia, Hepatitis, Hyperammonemia ORPHA:292
Primary Dystonia, Dyt2 Type
Torticollis, Generalized dystonia, Involuntary movements, Tremor, Torsion dystonia, Blepharospasm... ORPHA:99657
Congenital Muscular Dystrophy With Cerebellar Involvement
Dilated fourth ventricle, Fusion of the cerebellar hemispheres, Occipital encephalocele, Elevated... ORPHA:370959
Radio-Tartaglia Syndrome
Thick eyebrow, Ataxia, Highly arched eyebrow, Long eyebrows, Tremor, Aggressive behavior, Synophr... OMIM:619312
Rapp-Hodgkin Syndrome
Sparse eyelashes, Slow-growing hair, Supernumerary nipple, Sparse eyebrow, Anhidrotic ectodermal ... OMIM:129400
Oligodontia-Colorectal Cancer Syndrome
Sparse scalp hair, Absent eyebrow, Sparse axillary hair, Short eyelashes, Sparse body hair OMIM:608615
Aceruloplasminemia
Decreased circulating ceruloplasmin concentration, Tremor, Chorea, Gait ataxia, Elevated hepatic ... ORPHA:48818
Leukodystrophy, Hypomyelinating, 11
Cerebellar atrophy, Ataxia, Tremor, Myoclonus, Spasticity OMIM:616494
Quinquaud Folliculitis Decalvans
Abnormal hair morphology, Scarring alopecia of scalp, Patchy alopecia ORPHA:346
Chilblain Lupus
Hyperkeratosis, Cutis marmorata, Skin ulcer ORPHA:90280
Short Syndrome
Premature skin wrinkling, Prominent superficial veins OMIM:269880
Neurodevelopmental Disorder With Speech Delay And Variable Ocular Anomalies
Sparse hair, Sparse eyebrow OMIM:619989
Late Infantile Neuronal Ceroid Lipofuscinosis
Cerebellar atrophy, Abnormal circulating enzyme concentration or activity, Hyperactivity, Ataxia,... ORPHA:168491
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities
Highly arched eyebrow, Aggressive behavior, Babinski sign, Scissor gait, Spastic tetraplegia, Dys... OMIM:619121
Short Stature, Microcephaly, And Endocrine Dysfunction
Broad-based gait, Ataxia, Simplified gyral pattern, Dysmetria, Dysdiadochokinesis, Gait disturban... OMIM:616541
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Elevated hepatic transaminase, Parakeratosis, Psoriasiform lesion, Hypercalcemia, Abnormal lactat... ORPHA:284426
Anauxetic Dysplasia 2
Sparse hair, Nail dysplasia, Small nail OMIM:617396
Infantile Digital Fibromatosis
Hyperkeratosis, Parakeratosis ORPHA:199267
Dyskeratosis Congenita, Autosomal Recessive 6
Alopecia, Ataxia, Nail dystrophy, Cerebellar hypoplasia, Sparse hair OMIM:616353
Ectodermal Dysplasia/Short Stature Syndrome
Hyperkeratosis, Palmoplantar keratoderma, Nail dystrophy, Dysphagia, Anonychia OMIM:616029
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques
Alopecia, Abnormal fingernail morphology, Thickened skin, Erythema, Skin ulcer, Palmoplantar kera... ORPHA:659
Cortisone Reductase Deficiency 1
Alopecia, Hirsutism OMIM:604931
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome
Premature graying of hair, Tremor ORPHA:66633
Parkinson Disease 14, Autosomal Recessive
Eyelid apraxia, Axial dystonia, Resting tremor, Parkinsonism, Elevated circulating creatine kinas... OMIM:612953
Leukodystrophy, Hypomyelinating, 6
Cerebellar atrophy, Ataxia, Tremor, Rigidity, Choreoathetosis, Dystonia, Oculomotor apraxia, Spas... OMIM:612438
Joubert Syndrome
Encephalocele, Cerebellar vermis hypoplasia, Ataxia, Highly arched eyebrow, Tremor, Hydrocephalus... ORPHA:475
Intellectual Developmental Disorder, Autosomal Recessive 39
Hyperactivity, Synophrys, Abnormal repetitive mannerisms, Aggressive behavior OMIM:615541
Tyrosinemia Type 2
Ataxia, Tremor, Hyperkeratosis, Palmoplantar keratoderma, Abnormality of the nail ORPHA:28378
Hyperphenylalaninemia, Bh4-Deficient, B
Hyperphenylalaninemia, Tremor, Rigidity, Dysphagia, Choreoathetosis, Hyperkinetic movements, Dyst... OMIM:233910
Short Syndrome
Sparse hair, Excessive wrinkled skin, Alopecia ORPHA:3163
Lelis Syndrome
Yellow nails, Absent lower eyelashes, Palmoplantar hyperkeratosis, Sparse hair, Nail dystrophy, A... ORPHA:140936
4Q21 Microdeletion Syndrome
Tremor, Synophrys, Self-injurious behavior, Long eyelashes, Cerebellar hypoplasia, Abnormal repet... ORPHA:238750
Autosomal Recessive Palmoplantar Keratoderma And Congenital Alopecia
Nail dystrophy, Palmoplantar keratoderma, Alopecia totalis ORPHA:1366
Sézary Syndrome
Tremor, Alopecia, Palmoplantar keratoderma, Nail dystrophy ORPHA:3162
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy
Cerebellar atrophy, Ataxia, Tremor, Cerebellar gliosis, Babinski sign, Dysmetria, Gait ataxia, Hy... OMIM:616505
Opitz-Kaveggia Syndrome
Facial wrinkling, Fine hair, Gray matter heterotopia, Frontal upsweep of hair, Sparse hair, Spast... OMIM:305450
Hemimegalencephaly
Pachygyria, Hemiparesis, Gray matter heterotopia, Myoclonus, Polymicrogyria ORPHA:99802
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type
Curly hair, Ataxia, Aggressive behavior, Self-injurious behavior, Hypertonia, Gait disturbance, C... OMIM:300986
Poikiloderma With Neutropenia
Plantar hyperkeratosis, Elevated circulating creatine kinase concentration, Sparse eyebrow, Telan... OMIM:604173
Cerebrooculofacioskeletal Syndrome 2
Sparse hair, Cutaneous photosensitivity OMIM:610756
Ablepharon-Macrostomia Syndrome
Absent eyebrow, Redundant skin, Absent eyelashes, Hypoplastic nipples, Sparse hair, Premature ski... OMIM:200110
Cntnap2-Related Developmental And Epileptic Encephalopathy
Lower limb spasticity, Hyperactivity, Cerebral palsy, Ataxia, Aggressive behavior, Abnormality of... ORPHA:163681
Incontinentia Pigmenti
Ridged nail, Alopecia, Supernumerary nipple, Erythema, Nail pits, Fine hair, Hyperkeratosis, Coar... OMIM:308300
Hypercarotenemia And Vitamin A Deficiency, Autosomal Recessive
Follicular hyperkeratosis OMIM:277350
Netherton Syndrome
Sparse scalp hair, Parakeratosis, Brittle hair, Brittle scalp hair, Sparse eyebrow, Angioedema, U... OMIM:256500
Combined Oxidative Phosphorylation Deficiency 3
Hyponatremia, Ataxia, Elevated circulating creatine kinase concentration, Tremor, Hyperammonemia,... OMIM:610505
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Alopecia, Highly arched eyebrow, Synophrys, Ectodermal dysplasia, Dystrophic toenail, Nail dystro... ORPHA:3253
Chanarin-Dorfman Syndrome
Alopecia, Ataxia, Congenital nonbullous ichthyosiform erythroderma OMIM:275630
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Cerebellar vermis hypoplasia, Ataxia, Dystonia, Highly arched eyebrow, Tremor, Low anterior hairl... OMIM:220111
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Cerebellar atrophy, Ataxia, Impulsivity, Aggressive behavior, Inability to walk, Tongue thrusting... OMIM:619580
Fg Syndrome Type 1
Broad-based gait, Frontal upsweep of hair, Facial wrinkling ORPHA:93932
Neurodegeneration With Brain Iron Accumulation 5
Cerebellar atrophy, Dystonia, Parkinsonism, Akinesia, Aggressive behavior, Rigidity, Tremor, Brad... OMIM:300894
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia
Babinski sign, Disinhibition, Dysphagia, Spasticity, Abnormal repetitive mannerisms OMIM:612069
Methylmalonic Aciduria, Cblb Type
Methylmalonic acidemia, Hyperglycinemia, Hyperammonemia OMIM:251110
Costello Syndrome
Deep-set nails, Abnormal fingernail morphology, Redundant skin, Concave nail, Abnormal hair morph... ORPHA:3071
Muscular Dystrophy, Congenital, Davignon-Chauveau Type
Inability to walk, Dry skin, Follicular hyperkeratosis OMIM:617066
Stuve-Wiedemann Syndrome 1
Sparse hair, Premature skin wrinkling OMIM:601559
Hijazi-Reis Syndrome
Lower limb spasticity, Ankle clonus, Gait disturbance, Hyperbilirubinemia, Abnormal repetitive ma... OMIM:301094
Pelizaeus-Merzbacher Disease
Broad-based gait, Generalized dystonia, Ataxia, Writer's cramp, Tremor, Head titubation, Inabilit... OMIM:312080
Classic Progressive Supranuclear Palsy Syndrome
Axial dystonia, Parkinsonism, Impulsivity, Akinesia, Tremor, Abnormal pyramidal sign, Neuromuscul... ORPHA:240071
Neurodegeneration With Brain Iron Accumulation 4
Cerebellar atrophy, Generalized dystonia, Ataxia, Elevated circulating creatine kinase concentrat... OMIM:614298
Autism, Susceptibility To, X-Linked 2
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines OMIM:300495
Intellectual Developmental Disorder, Autosomal Dominant 65
Ataxia, Synophrys, Noncommunicating hydrocephalus, Low posterior hairline, Clumsiness, Thin eyebr... OMIM:619320
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma
Alopecia, Sparse eyelashes, Acantholysis, Sparse eyebrow, Palmoplantar hyperkeratosis, Palmoplant... OMIM:605676
Arthrogryposis Multiplex Congenita 5
Akinesia, Hand tremor, Hypertonia, Dystonia, Premature skin wrinkling OMIM:618947
Systemic Lupus Erythematosus 17
Alopecia, Chorea OMIM:301080
Cerebral Palsy, Spastic Quadriplegic, 3
Abnormal pyramidal sign, Spastic tetraplegia, Spastic diplegia, Gray matter heterotopia, Dysphagi... OMIM:617008
Spinocerebellar Ataxia Type 21
Akinesia, Tremor, Rigidity, Gait ataxia, Progressive cerebellar ataxia, Abnormality of extrapyram... ORPHA:98773
Leukoencephalopathy With Calcifications And Cysts
Ataxia, Tremor, Abnormal pyramidal sign, Gait disturbance, Dystonia, Spasticity, Dense calcificat... ORPHA:542310
Ectodermal Dysplasia-Blindness Syndrome
Abnormal fingernail morphology, Skin ulcer, Fine hair, Hyperkeratosis, Sparse hair ORPHA:1806
Androgen Insensitivity Syndrome
Sparse pubic hair, Absent facial hair, Sparse axillary hair OMIM:300068
Proteus Syndrome
Hyperkeratosis OMIM:176920
Cystathioninuria
Cystathioninemia, Cystathioninuria, Tremor ORPHA:212
Leber Congenital Amaurosis
Encephalocele, Hemiplegia/hemiparesis, Abnormality of neuronal migration, Aplasia/Hypoplasia of t... ORPHA:65
Wiedemann-Rautenstrauch Syndrome
Tremor, Synophrys, Hypertonia, Sparse hair, Acanthosis nigricans, Ataxia, Truncal ataxia, Polymic... ORPHA:3455
Ichthyosis, Congenital, Autosomal Recessive 3
Erythema, Hyperkeratosis, Palmoplantar keratoderma, Congenital nonbullous ichthyosiform erythrode... OMIM:606545
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Methylmalonic acidemia, Hypomethioninemia, Ataxia, Jaundice, Hydrocephalus, Hyperammonemia, Eleva... ORPHA:79282
Lichen Planus Pemphigoides
Skin vesicle, Hyperkeratosis, Abnormality of the nail ORPHA:254478
Interstitial Nephritis, Karyomegalic
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:614817
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
Hyperactivity, Highly arched eyebrow, Aggressive behavior, Tremor, Attention deficit hyperactivit... OMIM:618342
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome
Decreased retinol-binding protein level, Follicular hyperkeratosis OMIM:615147
Posterior-Predominant Lissencephaly-Broad Flat Pons And Medulla-Midline Crossing Defects Syndrome
Involuntary movements, Dysphagia, Aplasia/Hypoplasia of the cerebellum, Spasticity, Pachygyria, A... ORPHA:572013
Histidinemia
Histidinuria, Hyperhistidinemia ORPHA:2157
Paternal 20Q13.2Q13.3 Microdeletion Syndrome
Sparse hair, Aplasia/Hypoplasia of the eyebrow ORPHA:261304
Werner Syndrome
Sparse scalp hair, Prematurely aged appearance, Telangiectasia of the skin, Abnormal hair whorl, ... ORPHA:902
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome
Sparse scalp hair, Sparse eyelashes, Progeroid facial appearance, Sparse eyebrow, Cutis laxa ORPHA:75496
Alpha-Heavy Chain Disease
Alopecia, Hypocalcemia ORPHA:100025
Walker-Warburg Syndrome
Abnormal cortical gyration, Pachygyria, Polymicrogyria, Abnormal lactate dehydrogenase level, Hyd... ORPHA:899
Brain Dopamine-Serotonin Vesicular Transport Disease
Dystonia, Ataxia, Parkinsonism, Abnormality of coordination, Spastic tetraparesis, Tremor, Oculog... ORPHA:352649
Wiedemann-Rautenstrauch Syndrome
Reduced subcutaneous adipose tissue, Prominent scalp veins, Sparse scalp hair, Hypertriglyceridem... OMIM:264090
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Hypergranulosis, Acantholysis, Palmoplantar keratoderma, Hypoalbuminemia, Sparse hair, Ichthyosis... OMIM:615508
Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter
Broad-based gait, Cerebellar vermis hypoplasia, Gait ataxia, Difficulty walking, Dystonia, Spasti... OMIM:617807
Cranioectodermal Dysplasia
Sparse hair, Abnormal toenail morphology, Abnormal fingernail morphology ORPHA:1515
Dentici-Novelli Neurodevelopmental Syndrome
Inability to walk, Hypertonia, Abnormal repetitive mannerisms, Simplified gyral pattern OMIM:619877
Subependymal Nodular Heterotopia
Occipital encephalocele, Myelomeningocele, Meningocele, Abnormality of neuronal migration, Gray m... ORPHA:101030
Mismatch Repair Cancer Syndrome 4
Gray matter heterotopia OMIM:619101
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia
Incoordination, Ataxia, Tremor, Abnormal pyramidal sign, Eyelid myoclonus, Pontocerebellar atroph... OMIM:618060
Mandibuloacral Dysplasia With Type A Lipodystrophy
Abnormal eyebrow morphology, Alopecia, Prematurely aged appearance, Progeroid facial appearance, ... ORPHA:90153
Acrofacial Dysostosis, Palagonia Type
Sparse eyelashes, Low anterior hairline, Thin eyebrow, Sparse hair, Pili torti, Sparse lateral ey... ORPHA:1787
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Reduced subcutaneous adipose tissue, Absent eyebrow, Alopecia, Sparse scalp hair, Sparse eyelashe... OMIM:137940
Pseudopelade Of Brocq
Sparse scalp hair, Alopecia, Abnormal hair morphology, Abnormality of the nail, Aplasia/Hypoplasi... ORPHA:129
Hemifacial Atrophy, Progressive
Patchy alopecia, Ataxia, Poliosis OMIM:141300
Developmental And Epileptic Encephalopathy 50
Hyperammonemia, Death in childhood OMIM:616457
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Cerebellar atrophy, Ataxia, Tremor, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Dysphagia, D... OMIM:614381
Autosomal Dominant Adult-Onset Proximal Spinal Muscular Atrophy
Waddling gait, Elevated circulating creatine kinase concentration, Tremor, Shuffling gait, Fascic... ORPHA:209335
Bilateral Generalized Polymicrogyria
Oculogyric crisis, Oral-pharyngeal dysphagia, Spastic tetraplegia, Eyelid myoclonus, Self-injurio... ORPHA:208447
Gerstmann-Straussler Disease
Cerebellar atrophy, Parkinsonism, Aggressive behavior, Tremor, Rigidity, Limb ataxia, Gait ataxia... OMIM:137440
Non-Specific Early-Onset Epileptic Encephalopathy
Abnormality of coordination, Ataxia, Involuntary movements, Impulsivity, Tremor, Rigidity, Unstea... ORPHA:442835
Intellectual Developmental Disorder, Autosomal Dominant 7
Hyperactivity, Incoordination, Ataxia, Gait disturbance, Inappropriate laughter, Abnormal repetit... OMIM:614104
Noonan Syndrome 8
Palmoplantar cutis laxa, Hyperkeratosis, Curly hair OMIM:615355
Fanconi Renotubular Syndrome 3
Aminoaciduria, Elevated circulating creatinine concentration OMIM:615605
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency
Acute hyperammonemia, Opisthotonus OMIM:210200
Intellectual Developmental Disorder, Autosomal Dominant 34
Curly hair, Broad-based gait, Synophrys, Coarse hair, Bruxism, Abnormal repetitive mannerisms OMIM:616351
Even-Plus Syndrome
Sparse hair, Synophrys, Highly arched eyebrow OMIM:616854
Mandibuloacral Dysplasia With Type B Lipodystrophy
Alopecia, Prematurely aged appearance, Progeroid facial appearance, Abnormal hair morphology, Nai... ORPHA:90154
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Alopecia, Hypopigmentation of hair ORPHA:1067
Autoimmune Lymphoproliferative Syndrome, Type Iii
Alopecia, Elevated circulating alanine aminotransferase concentration, Elevated circulating aspar... OMIM:615559
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies
Sparse hair, Patchy alopecia, Progeroid facial appearance OMIM:617763
Glut1 Deficiency Syndrome 2
Ataxia, Tremor, Choreoathetosis, Dystonia, Reduced haptoglobin level OMIM:612126
Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type
Subungual hyperkeratosis, Scarring alopecia of scalp, Hypoplastic sweat glands, Nail dystrophy, O... OMIM:617337
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome
Alopecia, Brittle hair, Aplasia/Hypoplasia of the cerebellar vermis, Coarse hair, Nail dystrophy,... ORPHA:75389
Cardiofaciocutaneous Syndrome 3
Hyperkeratosis, Curly hair OMIM:615279
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome
Broad-based gait, Synophrys, Low anterior hairline, Fine hair, Cerebellar hypoplasia, Spastic par... ORPHA:391408
Joubert Syndrome With Hepatic Defect
Elevated hepatic transaminase, Occipital encephalocele, Cerebellar vermis hypoplasia, Ataxia, Por... ORPHA:1454
Mohr-Tranebjaerg Syndrome
Generalized dystonia, Dystonia, Tremor, Inability to walk, Babinski sign, Abnormal pyramidal sign... ORPHA:52368
Congenital Disorder Of Glycosylation, Type If
Ataxia, Hyperkeratosis, Hypertonia, Scaling skin, Dry skin OMIM:609180
Desbuquois Syndrome
Sparse hair, Abnormal eyelash morphology ORPHA:1425
Dowling-Degos Disease
Abnormal fingernail morphology, Hyperkeratosis, Skin vesicle, Hyperkeratotic papule, Generalized ... ORPHA:79145
Myopathy, Mitochondrial, And Ataxia
Ataxia, Thick hair, Elevated circulating creatine kinase concentration, Tremor, Inability to walk... OMIM:617675
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Hypopigmentation of hair, Hyperactivity, Ataxia, Broad-based gait, Abnormal eating behavior, Trem... ORPHA:98794
Psoriasis 2
Hyperkeratosis, Parakeratosis, Scaling skin OMIM:602723
Hypohidrotic Ectodermal Dysplasia
Abnormal hair quantity, Slow-growing hair, Hyperkeratosis, Aplasia/Hypoplasia of the eyebrow, Bre... ORPHA:238468
Björnstad Syndrome
Alopecia, Brittle hair ORPHA:123
Alopecia-Contractures-Dwarfism Mental Retardation Syndrome
Alopecia OMIM:203550
Pachyonychia Congenita 1
Nail dystrophy, Follicular hyperkeratosis, Palmoplantar hyperkeratosis, Onychogryposis OMIM:167200
Cerebroretinal Microangiopathy With Calcifications And Cysts 1
Ataxia, Retinal telangiectasia, Tremor, Abnormal pyramidal sign, Fine hair, Premature graying of ... OMIM:612199
Xq28 (MECP2) duplication
Inability to walk, Gait ataxia, Progressive spasticity, Dysphagia, Abnormal repetitive mannerisms DECIPHER:45
Oculocerebrocutaneous Syndrome
Alopecia, Abnormal fingernail morphology, Hemiplegia/hemiparesis, Cerebellar hypoplasia, Polymicr... ORPHA:1647
Congenital Disorder Of Glycosylation, Type Iie
Elevated circulating aspartate aminotransferase concentration, Elevated circulating creatine kina... OMIM:608779
Palmoplantar Carcinoma, Multiple Self-Healing
Parakeratosis, Ectodermal dysplasia, Palmoplantar keratoderma, Nail dystrophy, Follicular hyperke... OMIM:615225
2Q32Q33 Microdeletion Syndrome
Sparse hair, Fine hair ORPHA:251019
Neutral Lipid Storage Disease With Ichthyosis
Elevated hepatic transaminase, Alopecia, Hypertriglyceridemia, Ataxia, Abnormal circulating creat... ORPHA:98907
Polyendocrine-Polyneuropathy Syndrome
Alopecia, Ataxia, Abnormal pyramidal sign, Cerebellar hypoplasia, Dystonia ORPHA:453533
Renal Tubular Acidosis, Distal, 1
Hypokalemia, Elevated circulating creatinine concentration, Hypocalcemia OMIM:179800
Recon Progeroid Syndrome
Progeroid facial appearance, Hyperconvex thumb nails, Livedo reticularis, Absent lower eyelashes,... OMIM:620370
Developmental And Epileptic Encephalopathy 30
Abnormal repetitive mannerisms OMIM:616341
Harlequin Ichthyosis
Hyperkeratosis, Congenital ichthyosiform erythroderma, Self-injurious behavior, Ichthyosis ORPHA:457
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Perianal erythema, Ataxia, Tremor, Paronychia, Low alkaline phosphatase, Decreased serum zinc, Al... OMIM:201100
Classic Phenylketonuria
Hypopigmentation of hair, Tremor, Paraplegia, Self-injurious behavior, Hypertonia, Attention defi... ORPHA:79254
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked
Absent eyebrow, Brittle hair, Absent nipple, Sparse eyelashes, Concave nail, Absent eyelashes, Sp... OMIM:305100
Cardiocranial Syndrome, Pfeiffer Type
Sparse hair, Abnormal hair whorl ORPHA:2872
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Absent eyebrow, Alopecia, Sparse scalp hair, Sparse eyelashes, Aggressive behavior, Hypoplastic t... ORPHA:544488
Vulvovaginal Gingival Syndrome
Ridged nail, Parakeratosis, Erythema ORPHA:83453
Intellectual Developmental Disorder With Autistic Features And Language Delay, With Or Without Seizures
Spastic ataxia, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder OMIM:618906
19Q13.11 Microdeletion Syndrome
Supernumerary nipple, Fine hair, Sparse or absent eyelashes, Nail dysplasia, Sparse hair, Dry ski... ORPHA:217346
Hyperkeratosis Lenticularis Perstans
Hyperkeratosis lenticularis perstans, Skin ulcer ORPHA:409
Erythrokeratodermia Variabilis Et Progressiva 1
Generalized hyperkeratosis, Patchy palmoplantar hyperkeratosis, Hypergranulosis OMIM:133200
Chiari Malformation Type Ii
Ataxia, Spina bifida, Myelomeningocele, Hydrocephalus, Opisthotonus, Gray matter heterotopia, Cer... OMIM:207950
Galloway-Mowat Syndrome 6
Cerebellar atrophy, Hypoalbuminemia, Abnormal repetitive mannerisms, Paroxysmal bursts of laughte... OMIM:618347
Thanatophoric Dysplasia Type 1
Acanthosis nigricans, Excessive wrinkled skin, Redundant skin, Gray matter heterotopia ORPHA:1860
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures
Cerebellar atrophy, Ataxia, Severe temper tantrums, Aggressive behavior, Tremor, Spastic tetraple... OMIM:617710
Lissencephaly Syndrome, Norman-Roberts Type
Cerebellar atrophy, 4-layered lissencephaly, Abnormality of neuronal migration, Microlissencephal... ORPHA:89844
Ritscher-Schinzel Syndrome 4
Curly hair, Ataxia, Impulsivity, Aggressive behavior, Chorea, Athetosis, Cerebellar hypoplasia, D... OMIM:619435
Smith-Magenis Syndrome
Hyperactivity, Hypertriglyceridemia, Synophrys, Self hugging, Head-banging, Onychotillomania, Hyp... OMIM:182290
Trichothiodystrophy
Ridged nail, Sparse scalp hair, Split nail, Brittle hair, Prematurely aged appearance, Concave na... ORPHA:33364
Parkinson Disease 17
Resting tremor, Parkinsonism, Akinesia, Tremor, Rigidity, Bradykinesia OMIM:614203
Ablepharon Macrostomia Syndrome
Absent eyebrow, Redundant skin, Abnormal hair pattern, Absent eyelashes, Fine hair, Excessive wri... ORPHA:920
Bjornstad Syndrome
Alopecia, Brittle hair, Dry hair, Coarse hair, Hair shafts flattened at irregular intervals and t... OMIM:262000
Lipodystrophy-Intellectual Disability-Deafness Syndrome
Progeroid facial appearance ORPHA:50811
Blepharophimosis-Impaired Intellectual Development Syndrome
Sparse scalp hair, Sparse eyelashes, Highly arched eyebrow, Sparse eyebrow, Hypoplasia of the pon... OMIM:619293
Incontinentia Pigmenti
Alopecia, Hypoplastic fingernail, Telangiectasia of the skin, Abnormal fingernail morphology, Sup... ORPHA:464
De Barsy Syndrome
Progeroid facial appearance, Prominent veins on trunk, Cutis laxa, Excessive wrinkled skin, Athet... ORPHA:2962
Ichthyosis, Congenital, Autosomal Recessive 9
Orthokeratosis, Hyperkeratosis, Congenital nonbullous ichthyosiform erythroderma, Hypergranulosis OMIM:615023
Noonan Syndrome 6
Sparse hair, Curly hair, Long eyebrows, Low posterior hairline OMIM:613224
Liver Disease, Severe Congenital
Hyponatremia, Elevated hepatic transaminase, Dry hair, Elevated circulating alpha-fetoprotein con... OMIM:619991
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate
Sparse eyelashes, Hyperconvex nail, Supernumerary nipple, Absent eyelashes, Ectodermal dysplasia,... OMIM:106260
Sting-Associated Vasculopathy, Infantile-Onset
Nailfold capillary tortuosity, Cutis marmorata, Erythema, Livedo reticularis, Telangiectasia, Nai... OMIM:615934
Neuropathy, Hereditary Sensory, Type If
Hyperkeratosis OMIM:615632
Tay-Sachs Disease
Cerebellar atrophy, Abnormal circulating enzyme concentration or activity, Exaggerated startle re... ORPHA:845
Chronic Mucocutaneous Candidiasis
Abnormal fingernail morphology, Erythema, Hepatitis, Skin ulcer, Broad nail, Hyperkeratosis, Abno... ORPHA:1334
Flynn-Aird Syndrome
Alopecia, Ataxia ORPHA:2047
Combined Oxidative Phosphorylation Deficiency 32
Cerebellar atrophy, Tremor, Inability to walk, Dysphagia, Choreoathetosis, Dystonia, Spasticity OMIM:617664
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant
Sparse eyelashes, Trichiasis, Sparse eyebrow, Absent pubic hair, Hyperkeratosis, Ichthyosis, Nail... OMIM:148210
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome
Alopecia, Hyperkeratosis, Ichthyosis, Sparse hair, Abnormal toenail morphology ORPHA:1005
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Spastic ataxia, Torticollis, Cerebellar vermis hypoplasia, Inability to walk, Spastic tetraplegia... ORPHA:300570
Progeria-Short Stature-Pigmented Nevi Syndrome
Elevated hepatic transaminase, Alopecia, Broad-based gait, Prematurely aged appearance, Lack of f... ORPHA:2959
Acrokeratoelastoidosis Of Costa
Orthokeratosis, Hyperkeratotic papule, Hypergranulosis, Palmoplantar hyperkeratosis ORPHA:38
Tooth Agenesis, Selective, 4
Sparse scalp hair, Sparse eyebrow, Short eyelashes, Dry skin, Dystrophic fingernails, Sparse body... OMIM:150400
Ehlers-Danlos Syndrome, Classic-Like, 2
Prominent superficial veins, Prematurely aged appearance, Redundant skin, Poor wound healing, Low... OMIM:618000
Porokeratosis 7, Multiple Types
Parakeratosis, Porokeratosis OMIM:614714
Porokeratosis 1, Multiple Types
Parakeratosis, Porokeratosis OMIM:175800
Ataxia With Vitamin E Deficiency
Ataxia, Tremor, Hemiplegia/hemiparesis, Abnormal pyramidal sign, Dysmetria, Dysdiadochokinesis, H... ORPHA:96
Ichthyosis, Congenital, Autosomal Recessive 5
Parakeratosis, Palmoplantar keratoderma, Congenital nonbullous ichthyosiform erythroderma, Orthok... OMIM:604777
Microcephaly, Developmental Delay, And Brittle Hair Syndrome
Cerebellar atrophy, Broad-based gait, Brittle hair, Poor coordination, Abnormal pyramidal sign, F... OMIM:618891
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2
Cerebellar atrophy, Elevated circulating creatine kinase concentration, Elevated circulating alph... OMIM:606002
6Q Terminal Deletion Syndrome
Highly arched eyebrow, Periventricular heterotopia, Low anterior hairline, Abnormality of neurona... ORPHA:75857
Mandibuloacral Dysplasia With Type B Lipodystrophy
Alopecia, Decreased adipose tissue around neck, Brittle hair, Prominent superficial veins, Proger... OMIM:608612
Pick Disease Of Brain
Abnormal repetitive mannerisms, Polyphagia, Inappropriate laughter, Disinhibition OMIM:172700
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Aggressive behavior, Tremor, Synophrys, Low anterior hairline, Hirsutism, Self-injurious behavior... OMIM:617061
Joubert Syndrome 30
Cerebellar atrophy, Gray matter heterotopia, Superior cerebellar dysplasia, Dandy-Walker malforma... OMIM:617622
Xeroderma Pigmentosum
Conjunctival telangiectasia, Alopecia, Telangiectasia of the skin, Ataxia, Thickened skin, Erythe... ORPHA:910
Cutis Laxa, Autosomal Recessive, Type Iib
Prominent superficial veins, Redundant skin, Lack of skin elasticity, Excessive wrinkled skin, Br... OMIM:612940
Familial Benign Chronic Pemphigus
Skin vesicle, Hyperkeratosis, Erythema, Acantholysis ORPHA:2841
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome
Dry skin, Mildly elevated creatine kinase, Follicular hyperkeratosis ORPHA:486815
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
Ataxia, Synophrys, Fine hair, Head tremor, Abnormal repetitive mannerisms OMIM:619428
Knuckle Pads-Leukonychia-Sensorineural Deafness-Palmoplantar Hyperkeratosis Syndrome
Hyperkeratotic papule, Leukonychia, Palmoplantar keratoderma, Palmoplantar hyperkeratosis ORPHA:2698
Renpenning Syndrome
Abnormal hairshaft morphology, Alopecia, Thin eyebrow ORPHA:3242
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Sparse hair, Ectodermal dysplasia, Nail dystrophy ORPHA:98813
Neu-Laxova Syndrome
Abnormal cortical gyration, Spina bifida, Abnormal eyelash morphology, Abnormal hair morphology, ... ORPHA:2671
Peeling Skin Syndrome 6
Orthokeratosis, Parakeratosis, Dry skin, Scaling skin OMIM:618084
Cystinosis
Portal hypertension, Abnormal pyramidal sign, Hypokalemia, Aminoaciduria, Gait disturbance, Hypop... ORPHA:213
Epidermolysis Bullosa, Lethal Acantholytic
Alopecia totalis, Acantholysis, Absent fingernail, Anonychia, Alopecia universalis OMIM:609638
Periventricular Nodular Heterotopia 1
Gray matter heterotopia, Cerebellar hypoplasia, Abnormality of neuronal migration OMIM:300049
Joubert Syndrome 37
Sparse hair, Oculomotor apraxia, Cerebellar vermis hypoplasia OMIM:619185
Perry Syndrome
Parkinsonism, Akinesia, Tremor, Rigidity, Bradykinesia, Inappropriate behavior, Disinhibition, Dy... OMIM:168605
Developmental And Epileptic Encephalopathy 66
Synophrys, Cerebellar vermis hypoplasia, Abnormal repetitive mannerisms, Broad-based gait OMIM:618067
Intellectual Developmental Disorder, X-Linked, Syndromic 33
Cerebellar atrophy, Cerebellar vermis hypoplasia, Ataxia, Tremor, Synophrys, Spastic diplegia, Ga... OMIM:300966
Rett Syndrome, Congenital Variant
Pachygyria, Chorea, Tongue thrusting, Bruxism, Simplified gyral pattern, Athetosis, Dystonia, Spa... OMIM:613454
Developmental Delay, Language Impairment, And Ocular Abnormalities
Hyperactivity, Impulsivity, Aggressive behavior, Attention deficit hyperactivity disorder, Apraxi... OMIM:620141
Marburg Hemorrhagic Fever
Elevated hepatic transaminase, Elevated circulating creatine kinase concentration, Hyperamylasemi... ORPHA:99826
Intellectual Developmental Disorder, Autosomal Dominant 45
Hyperactivity, Cerebral palsy, Chorea, Myoclonus, Attention deficit hyperactivity disorder, Recur... OMIM:617600
Johnson Neuroectodermal Syndrome
Sparse hair, Absent eyebrow, Alopecia, Absent eyelashes ORPHA:2316
Abnormal Hair, Joint Laxity, And Developmental Delay
Alopecia, Impulsivity, Aggressive behavior, Fragile nails, Small nail, Pili torti, Trichorrhexis ... OMIM:261990
Satoyoshi Syndrome
Alopecia, Mildly elevated creatine kinase, Alopecia universalis OMIM:600705
Hemochromatosis, Type 1
Elevated hepatic transaminase, Increased circulating ferritin concentration, Alopecia, Increased ... OMIM:235200
Palmoplantar Keratoderma, Punctate Type Ia
Orthokeratosis, Punctate palmoplantar hyperkeratosis, Hypergranulosis OMIM:148600
Neonatal Lupus Erythematosus
Elevated hepatic transaminase, Parakeratosis, Hyperkeratosis, Cutaneous photosensitivity, Hepatic... ORPHA:398124
Chromosome Xq27.3-Q28 Duplication Syndrome
Sparse body hair OMIM:300869
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Cerebellar atrophy, Exaggerated startle response, Tremor, Abnormal cerebellum morphology, Truncal... OMIM:618056
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
Cerebellar atrophy, Ataxia, Elevated circulating creatine kinase concentration, Sparse eyebrow, T... ORPHA:496641
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type
Disorganization of the anterior cerebellar vermis, Hyperactivity, Cerebellar vermis hypoplasia, G... OMIM:300486
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly
Sparse hair, Curly hair, Synophrys, Sparse eyebrow OMIM:620075
Tetrasomy 12P
Sparse hair, Sparse eyebrow ORPHA:884
Adult Syndrome
Sparse scalp hair, Absent nipple, Fair hair, Sparse axillary hair, Nail pits, Dry skin, Ectoderma... OMIM:103285
Mandibuloacral Dysplasia
Alopecia, Hypertriglyceridemia, Increased subcutaneous truncal adipose tissue, Increased circulat... ORPHA:2457
Revesz Syndrome
Ataxia, Nail pits, Fine hair, Hypertonia, Nail dystrophy, Cerebellar hypoplasia, Sparse hair, Rid... OMIM:268130
Intellectual Developmental Disorder, Fra12A Type
Hyperkeratosis OMIM:136630
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Ataxia, Periventricular heterotopia, Rigidity, Hydrocephalus, Spastic tetraplegia, Chiari type I ... OMIM:618476
Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome
Cerebellar hypoplasia, Alopecia, Abnormal cerebellar vermis morphology, Supernumerary nipple ORPHA:3224
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type
Lower limb spasticity, Ataxia, Rigidity, Repetitive compulsive behavior, Chorea, Inability to wal... OMIM:300260
Cranioectodermal Dysplasia 3
Short nail, Broad nail, Fine hair, Cutis laxa, Ectodermal dysplasia, Sparse hair, Dry skin OMIM:614099
Cryoglobulinemia, Familial Mixed
Elevated circulating creatinine concentration OMIM:123550
Alazami Syndrome
Abnormal eating behavior, Sparse eyebrow, Thickened skin, Abnormal repetitive mannerisms, Self-mu... ORPHA:319671
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language
Dilated fourth ventricle, Inability to walk, Abnormal repetitive mannerisms OMIM:613443
Joubert Syndrome With Renal Defect
Encephalocele, Cerebellar vermis hypoplasia, Ataxia, Highly arched eyebrow, Tremor, Hydrocephalus... ORPHA:220497
Alstrom Syndrome
Elevated hepatic transaminase, Decreased HDL cholesterol concentration, Alopecia, Hypertriglyceri... OMIM:203800
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Alopecia, Anorexia, Hypokalemia, Hypocalcemia, Nail dysplasia, Hypomagnesemia, Nail dystrophy OMIM:175500
Xp22.13P22.2 Duplication Syndrome
Sparse hair, High anterior hairline ORPHA:284180
Hutchinson-Gilford Progeria Syndrome
Absent eyebrow, Prominent superficial blood vessels, Cyanosis, Alopecia totalis, Loss of eyelashe... ORPHA:740
Ogden Syndrome
Torticollis, Redundant neck skin, Prematurely aged appearance, Redundant skin, Facial wrinkling, ... OMIM:300855
Cutaneous Telangiectasia And Cancer Syndrome, Familial
Ridged nail, Alopecia, Yellow nails, Onycholysis, Nail dystrophy, Sparse lateral eyebrow OMIM:614564
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome
Aplasia/Hypoplasia of the cerebellum, Hypertonia, Abnormality of neuronal migration, Abnormal eye... ORPHA:2518
Carnitine Palmitoyltransferase Ii Deficiency
Cerebellar vermis hypoplasia, Elevated circulating creatine kinase concentration, Elevated circul... ORPHA:157
Fanconi Anemia, Complementation Group S
Sparse hair, Long eyelashes, Low anterior hairline OMIM:617883
Ruijs-Aalfs Syndrome
Premature graying of hair, Sparse hair OMIM:616200
Coffin-Siris Syndrome 7
Sparse scalp hair, Hyperactivity, Severe temper tantrums, Chiari type I malformation, Compulsive ... OMIM:618027
Donohue Syndrome
Acanthosis nigricans, Hyperkeratosis, Nail dysplasia, Hypertrichosis OMIM:246200
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome
Alopecia, Upper motor neuron dysfunction OMIM:612079
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18
Cerebellar atrophy, Elevated hepatic transaminase, Speech apraxia, Dystonia, Ataxia, Elevated cir... OMIM:615356
Psoriasis 14, Pustular
Parakeratosis, Erythema, Nail dystrophy, Elevated circulating C-reactive protein concentration OMIM:614204
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome
Absent eyebrow, Alopecia, Absent eyelashes, Chiari type I malformation, Small nail, Ichthyosis ORPHA:166035
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Highly arched eyebrow, Cerebellar hypoplasia, Polymicrogyria, Abnormal repetitive mannerisms, Cer... ORPHA:500159
Acute Liver Failure
Elevated hepatic transaminase, Incoordination, Ataxia, Jaundice, Slurred speech, Hepatitis, Hyper... ORPHA:90062
Onychotrichodysplasia And Neutropenia
Curly hair, Curly eyelashes, Concave nail, Sparse pubic hair, Short eyelashes, Trichorrhexis nodo... OMIM:258360
Chromosome 2Q37 Deletion Syndrome
Hyperactivity, Highly arched eyebrow, Aggressive behavior, Self-injurious behavior, Skin-picking,... OMIM:600430
Ectodermal Dysplasia And Immunodeficiency 1
Sparse hair, Ectodermal dysplasia, Aplasia of the eccrine sweat glands OMIM:300291
Adult-Onset Autosomal Dominant Leukodystrophy
Clonus, Tremor, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Hypertonia, Aplasia/Hypoplasia o... ORPHA:99027
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma
Alopecia of scalp, Alopecia, Palmoplantar keratoderma, Nail dystrophy OMIM:618373
Hereditary Bullous Dystrophy, Macular Type
Nail dystrophy, Alopecia, Congenital abnormal hair pattern, Atrichia ORPHA:1867
Parkinson Disease 20, Early-Onset
Eyelid apraxia, Involuntary movements, Parkinsonism, Tremor, Rigidity, Dysphagia, Bradykinesia, G... OMIM:615530
Gaucher Disease, Perinatal Lethal
Akinesia, Opisthotonus, Hyperkeratosis, Congenital nonbullous ichthyosiform erythroderma, Ichthyo... OMIM:608013
Pruritic Urticarial Papules And Plaques Of Pregnancy
Parakeratosis, Facial erythema, Skin vesicle, Palmoplantar erythema, Striae distensae ORPHA:64745
Keppen-Lubinsky Syndrome
Spastic tetraparesis, Progeroid facial appearance, Opisthotonus, Hypertonia, Premature skin wrink... ORPHA:435628
5Q14.3 Microdeletion Syndrome
Agenesis of cerebellar vermis, Abnormal repetitive mannerisms, Thick eyebrow ORPHA:228384
Arthrogryposis And Ectodermal Dysplasia
Absent eyebrow, Trichiasis, Hyperkeratosis, Ectodermal dysplasia, Nail dysplasia, Trichodysplasia... OMIM:601701
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome
Alopecia ORPHA:88630
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
Highly arched eyebrow, Inability to walk, Self-injurious behavior, Sacral hypertrichosis, High no... ORPHA:457351
Bresek Syndrome
Alopecia, Ichthyosis ORPHA:85284
Braddock-Carey Syndrome 1
Sparse hair, Curly hair OMIM:619980
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Hyperkeratosis, Hydrocephalus, Cerebellar hypoplasia ORPHA:163966
Thanatophoric Dysplasia Type 2
Encephalocele, Hydrocephalus, Abnormality of neuronal migration, Holoprosencephaly, Acanthosis ni... ORPHA:93274
Chromosome 19Q13.11 Deletion Syndrome, Distal
Reduced subcutaneous adipose tissue, Sparse eyelashes, Sparse eyebrow, Nail dysplasia, Sparse hai... OMIM:613026
Kury-Isidor Syndrome
Alopecia, Attention deficit hyperactivity disorder, Hypertrichosis OMIM:619762
Monosomy 18P
Alopecia, Generalized dystonia, Low posterior hairline ORPHA:1598
Congenital Disorder Of Glycosylation, Type Iia
Aggressive behavior, Unsteady gait, Hirsutism, Stereotypical hand wringing, Hypertonia, Long eyel... OMIM:212066
Developmental Delay With Variable Neurologic And Brain Abnormalities
Gray matter heterotopia, Spasticity, Sparse lateral eyebrow OMIM:619694
Trichorhinophalangeal Syndrome Type 1
Sparse eyelashes, Sparse eyebrow, Leukonychia, Sparse hair, Fragile nails ORPHA:77258
Cerebral Creatine Deficiency Syndrome 1
Speech apraxia, Broad-based gait, Aggressive behavior, Elevated circulating creatine concentratio... OMIM:300352
Wars2-Related Combined Oxidative Phosphorylation Defect
Cerebellar atrophy, Abnormal circulating enzyme concentration or activity, Dilated fourth ventric... ORPHA:572798
Gapo Syndrome
Alopecia, Sparse eyelashes, Prematurely aged appearance, Sparse eyebrow, Early balding ORPHA:2067
Chondrodysplasia Punctata 2, X-Linked Dominant
Sparse eyelashes, Sparse eyebrow, Elevated 8-dehydrocholesterol, Elevated 8(9)-cholestenol, Conge... OMIM:302960
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy
Cerebellar atrophy, Inability to walk, Long eyelashes, Dysphagia, Abnormal repetitive mannerisms OMIM:617802
Hypouricemia, Renal, 1
Elevated circulating creatinine concentration, Hypouricemia OMIM:220150
Oculodentodigital Dysplasia
Curly hair, Brittle hair, Slow-growing hair, Ataxia, Abnormal fingernail morphology, Fine hair, P... ORPHA:2710
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Tremor, Elevated circulating creatine kinase concentration, Dysphagia, Fasciculations OMIM:313200
Bethlem Myopathy
Waddling gait, Elevated circulating creatine kinase concentration, Hyperkeratosis, Gait disturban... ORPHA:610
Trichorhinophalangeal Syndrome, Type I
Slow-growing hair, Thin nail, Concave nail, Leukonychia, Fine hair, Thin eyebrow, Sparse hair, Sp... OMIM:190350
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly
Highly arched eyebrow, Aggressive behavior, Attention deficit hyperactivity disorder, Obsessive-c... OMIM:618825
Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease
Follicular hyperkeratosis OMIM:613736
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3
Reduced subcutaneous adipose tissue, Curly hair, Lower limb spasticity, Cerebral palsy, Premature... OMIM:619950
Fucosidosis
Abnormal pyramidal sign, Spastic tetraplegia, Vascular skin abnormality, Spasticity, Acrocyanosis... ORPHA:349
Kdm5C-Related Syndromic X-Linked Intellectual Disability
Spasticity, Patchy alopecia, Aggressive behavior ORPHA:85279
Cardiofaciocutaneous Syndrome 1
Absent eyebrow, Curly hair, Slow-growing hair, Absent eyelashes, Oculomotor apraxia, Hydrocephalu... OMIM:115150
Mucoepithelial Dysplasia, Hereditary
Alopecia, Coarse hair, Nail dystrophy, Nail dysplasia, Follicular hyperkeratosis, Sparse hair, Ch... OMIM:158310
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked
Hyperkeratosis, Frontal upsweep of hair, Cutis marmorata, Broad eyebrow OMIM:301220
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:612924
Progressive Supranuclear Palsy
Impulsivity, Tremor, Rigidity, Unsteady gait, Dysphagia, Blepharospasm, Bradykinesia, Falls, Dyst... ORPHA:683
Adams-Oliver Syndrome
Encephalocele, Alopecia, Portal hypertension, Hydrocephalus, Aplastic/hypoplastic toenail, Hemipa... ORPHA:974
Migraine, Familial Hemiplegic, 2
Cerebellar atrophy, Tremor, Dysmetria, Gait ataxia, Hemiparesis, Apraxia, Episodic ataxia, Hemipl... OMIM:602481
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Aplasia/Hypoplasia of the cerebellum, Abnormality of neuronal migration ORPHA:2772
Wrinkly Skin Syndrome
Redundant skin, Short nail, Progeroid facial appearance, Neonatal wrinkled skin of hands and feet... OMIM:278250
Oculocutaneous Albinism Type 1A
Hyperkeratosis, Thickened skin, Hypopigmentation of hair, Albinism ORPHA:79431
Zellweger-Like Syndrome Without Peroxisomal Anomalies
Alopecia, Brittle hair ORPHA:50812
Alg11-Cdg
Elevated hepatic transaminase, Ataxia, Opisthotonus, Gray matter heterotopia, Hypertonia, Dry ski... ORPHA:280071
Dystonia 13, Torsion, Autosomal Dominant
Torticollis, Writer's cramp, Tremor, Torsion dystonia, Blepharospasm, Limb dystonia, Oromandibula... OMIM:607671
Coenzyme Q10 Deficiency, Primary, 1
Cerebellar atrophy, Ataxia, Elevated circulating creatine kinase concentration, Tremor, Myoclonus... OMIM:607426
Joubert Syndrome 6
Dilated fourth ventricle, Cerebellar vermis hypoplasia, Ataxia, Oculomotor apraxia, Elongated sup... OMIM:610688
Dyskeratosis Congenita, Autosomal Dominant 3
Alopecia, Ataxia, Fine hair, Premature graying of hair, Cerebellar hypoplasia, Nail dysplasia OMIM:613990
Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome
Excessive wrinkled skin, Hemiplegia/hemiparesis ORPHA:137608
Macs Syndrome
Alopecia, Redundant skin, Sparse eyebrow, Cutis laxa, Sparse hair, Bruising susceptibility OMIM:613075
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Elevated circulating alkaline phosphatase concentration, Alopecia OMIM:600785
Agel Amyloidosis
Dry skin, Cutis laxa, Nail dystrophy, Sparse hair, Bruising susceptibility, Dermatological manife... ORPHA:85448
Tylosis With Esophageal Cancer
Diffuse palmoplantar hyperkeratosis, Parakeratosis, Follicular hyperkeratosis OMIM:148500
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities
Hyperactivity, Ataxia, Aggressive behavior, Poor coordination, Compulsive behaviors, Spasticity, ... OMIM:618430
Joubert Syndrome With Oculorenal Defect
Encephalocele, Cerebellar vermis hypoplasia, Ataxia, Highly arched eyebrow, Hydrocephalus, Abnorm... ORPHA:2318
Ectodermal Dysplasia And Immunodeficiency 2
Sparse scalp hair, Anhidrotic ectodermal dysplasia, Aplasia of the sweat glands, Sparse hair, Dry... OMIM:612132
Hypotrichosis-Lymphedema-Telangiectasia Syndrome
Sparse scalp hair, Alopecia, Absent eyebrow, Abnormal sweat gland morphology, Absent eyelashes, A... OMIM:607823
Trichorhinophalangeal Syndrome, Type Iii
Sparse hair, Sparse lateral eyebrow OMIM:190351
Periventricular Nodular Heterotopia 7
Gray matter heterotopia, Periventricular nodular heterotopia, Polymicrogyria, Ataxia OMIM:617201
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
Alopecia, Agenesis of cerebellar vermis, Fine hair ORPHA:228390
Scarf Syndrome
Sparse hair, Hypoplastic nipples, Cutis laxa, Low posterior hairline ORPHA:3134
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome
Sparse body hair ORPHA:2234
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome
Thick hair, Tremor, Dysmetria, Progressive cerebellar ataxia, Dysdiadochokinesis, Cerebellar hypo... ORPHA:502423
Joubert Syndrome With Ocular Defect
Encephalocele, Cerebellar vermis hypoplasia, Ataxia, Highly arched eyebrow, Tremor, Hydrocephalus... ORPHA:220493
Noonan Syndrome 14
Curly hair, Sparse eyebrow, Low posterior hairline, Sparse hair, Dry skin, Bruising susceptibility OMIM:619745
Cri-Du-Chat Syndrome
Hyperactivity, Aggressive behavior, Premature graying of hair, Hypertonia, Difficulty walking, Ab... OMIM:123450
Hawkinsinuria
Hypertyrosinemia, Sparse hair OMIM:140350
Intellectual Developmental Disorder, Autosomal Dominant 66
Sparse hair OMIM:619910
Zinc Deficiency, Transient Neonatal
Alopecia, Decreased serum zinc OMIM:608118
Autosomal Dominant Cutis Laxa
Redundant neck skin, Prematurely aged appearance, Redundant skin, Cutis laxa, Premature skin wrin... ORPHA:90348
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Cerebellar atrophy, Exaggerated startle response, Tremor, Cerebellar hypoplasia, Fasciculations, ... OMIM:620327
Lamb-Shaffer Syndrome
Hyperactivity, Ataxia, Abnormal temper tantrums, Abnormal repetitive mannerisms, Upper motor neur... ORPHA:530983
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Encephalocele, Subcortical heterotopia, Agyria, Elevated circulating creatine kinase concentratio... OMIM:614643
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2
Sparse hair, Hyperconvex nail OMIM:619721
Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities
Hyperactivity, Cerebellar vermis hypoplasia, Aggressive behavior, Poor coordination, Poor fine mo... OMIM:620242
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Parakeratosis, Alopecia, Elevated 8-dehydrocholesterol, Elevated 8(9)-cholestenol, Erythema, Hype... OMIM:308050
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Cerebellar atrophy, Focal polymicrogyria, Head-banging, Attention deficit hyperactivity disorder,... OMIM:619103
Dyskeratosis Congenita, Autosomal Dominant 1
Ridged nail, Alopecia, Ataxia, Nail pits, Premature graying of hair, Nail dystrophy, Cerebellar h... OMIM:127550
Hypergonadotropic Hypogonadism And Partial Alopecia
Alopecia OMIM:241090
Tetrasomy 18P
Gait disturbance, Abnormality of neuronal migration ORPHA:3307
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation
Low anterior hairline, Spasticity, Gray matter heterotopia, Horizontal eyebrow, High anterior hai... OMIM:618797
Obesity, Hyperphagia, And Developmental Delay
Abnormal repetitive mannerisms, Polyphagia OMIM:613886
Ulnar Agenesis And Endocardial Fibroelastosis
Neonatal death OMIM:276822
Subacute Cutaneous Lupus Erythematosus
Hyperkeratosis, Cutaneous photosensitivity, Psoriasiform lesion, Vasculitis in the skin ORPHA:163525
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Hypertriglyceridemia, Orthokeratotic hyperkeratosis, Palmoplantar keratoderma, Nail dystrophy, Sm... OMIM:610644
Trichotillomania
Hair-pulling, Alopecia, Compulsive behaviors OMIM:613229
Erythrokeratodermia Variabilis Et Progressiva 6
Parakeratosis OMIM:618531
X-Linked Agammaglobulinemia
Alopecia, Hepatitis, Hypocalcemia ORPHA:47
Chromosome 5P13 Duplication Syndrome
Sparse hair, Low posterior hairline OMIM:613174
Hypocalcemic Vitamin D-Resistant Rickets
Alopecia, Gait disturbance, Hypocalcemia, Hypophosphatemia ORPHA:93160
Ectodermal Dysplasia-Skin Fragility Syndrome
Palmoplantar keratoderma, Scaling skin, Follicular hyperkeratosis, Nail dystrophy, Sparse hair, D... ORPHA:158668
Premature Aging Syndrome, Penttinen Type
Prominent superficial veins, Prematurely aged appearance, Thickened skin, Palmoplantar hyperkerat... OMIM:601812
Inverted Duplicated Chromosome 15 Syndrome
Hyperactivity, Aggressive behavior, Synophrys, Self-biting, Abnormal repetitive mannerisms ORPHA:3306
Angelman Syndrome
Hyperactivity, Broad-based gait, Ataxia, Aggressive behavior, Tremor, Inability to walk, Tongue t... ORPHA:72
Intellectual Developmental Disorder, Autosomal Dominant 54
Cerebellar atrophy, Lower limb spasticity, Ataxia, Thin nail, Inability to walk, Vocal cord paral... OMIM:617799
Choreoacanthocytosis
Elevated circulating creatine kinase concentration, Chorea, Hypertonia, Compulsive behaviors, Lim... ORPHA:2388
Laron Syndrome
Hypercholesterolemia, Prematurely aged appearance ORPHA:633
Cockayne Syndrome Type 1
Elevated hepatic transaminase, Lower limb spasticity, Ataxia, Progeroid facial appearance, Tremor... ORPHA:90321
48,Xxyy Syndrome
Tremor, Abnormal repetitive mannerisms, Ataxia, Attention deficit hyperactivity disorder ORPHA:10
Kid Syndrome
Sparse eyelashes, Progeroid facial appearance, Sparse eyebrow, Scarring alopecia of scalp, Trichi... ORPHA:477
Down Syndrome
Sparse hair, Prematurely aged appearance ORPHA:870
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome
Ataxia, Spasticity, Hyperkeratosis, Dysphagia, High anterior hairline OMIM:615510
Snijders Blok-Campeau Syndrome
Speech apraxia, Broad-based gait, Unsteady gait, Attention deficit hyperactivity disorder, Abnorm... OMIM:618205
Intellectual Developmental Disorder, Autosomal Recessive 41
Self-injurious behavior, Abnormal repetitive mannerisms OMIM:615637
Borjeson-Forssman-Lehmann Syndrome
Sparse hair, Thick eyebrow ORPHA:127
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Hypercalcemia, Aggressive behavior, Tremor, Synophrys, Gait ataxia, Compulsive behaviors, Attenti... ORPHA:476126
Chromomycosis
Hyperkeratosis, Hyperparakeratosis, Hyperkeratotic papule, Vascular skin abnormality ORPHA:182
Papillon-Lefèvre Syndrome
Abnormal fingernail morphology, Palmoplantar hyperkeratosis, Palmoplantar keratoderma, Nail dystr... ORPHA:678
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Abnormality of neuronal migration ORPHA:2204
Bainbridge-Ropers Syndrome
Highly arched eyebrow, Supernumerary nipple, Inability to walk, Synophrys, Hirsutism, Hypertonia,... OMIM:615485
Hyperpigmentation With Or Without Hypopigmentation, Familial Progressive
Hyperkeratosis OMIM:145250
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome
Abnormal location of the eyebrow, Ataxia, Repetitive compulsive behavior, Widow's peak, Chorea, S... ORPHA:522077
Fibrodysplasia Ossificans Progressiva
Elevated circulating alkaline phosphatase concentration, Alopecia OMIM:135100
Spastic Paraplegia 9B, Autosomal Recessive
Tremor, Babinski sign, Spastic paraplegia, Tetraplegia, Pseudobulbar paralysis, Gait disturbance,... OMIM:616586
Parkinson Disease, Late-Onset
Resting tremor, Parkinsonism, Tremor, Rigidity, Dysphagia, Bradykinesia, Dystonia, Short stepped ... OMIM:168600
Vitamin D-Dependent Rickets, Type 2A
Elevated circulating alkaline phosphatase concentration, Hypocalcemic seizures, Difficulty walkin... OMIM:277440
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities
Cerebellar vermis hypoplasia, Highly arched eyebrow, Babinski sign, Low anterior hairline, Low po... OMIM:615802
Peroxisome Biogenesis Disorder 13A (Zellweger)
Elevated circulating aspartate aminotransferase concentration, Conjugated hyperbilirubinemia, Int... OMIM:614887
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures
Hyperactivity, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder, Aggressi... OMIM:620292
Den Hoed-De Boer-Voisin Syndrome
Lower limb spasticity, Ataxia, Tremor, Inability to walk, Widow's peak, Stereotypical hand wringi... OMIM:619229
Frontonasal Dysplasia 2
Encephalocele, Agenesis of cerebellar vermis, Cerebellar vermis hypoplasia, Sparse eyelashes, Alo... OMIM:613451
Dystonia 2, Torsion, Autosomal Recessive
Torticollis, Tremor, Torsion dystonia, Blepharospasm, Dysphagia OMIM:224500
Rothmund-Thomson Syndrome, Type 2
Absent eyebrow, Alopecia, Sparse scalp hair, Sparse eyelashes, Absent eyelashes, Sparse eyebrow, ... OMIM:268400
Bilateral Perisylvian Polymicrogyria
Cerebellar dysplasia, Lower limb spasticity, Cerebellar vermis hypoplasia, Paraparesis, Oromotor ... ORPHA:98889
Scarf Syndrome
Low anterior hairline, Cutis laxa, Low posterior hairline, Hypoplastic nipples, Sparse hair OMIM:312830
Omenn Syndrome
Thickened skin, Alopecia, Aplasia/Hypoplasia of the eyebrow ORPHA:39041
White Sponge Nevus 2
Hyperparakeratosis OMIM:615785
Dyskeratosis Congenita
Abnormal eyebrow morphology, Alopecia, Telangiectasia of the skin, Abnormal fingernail morphology... ORPHA:1775
Congenital Bile Acid Synthesis Defect Type 4
Elevated hepatic transaminase, Giant cell hepatitis, Abnormal circulating enzyme concentration or... ORPHA:79095
Seckel Syndrome
Sparse scalp hair, Prematurely aged appearance ORPHA:808
Immunodeficiency, Common Variable, 12, With Autoimmunity
Alopecia OMIM:616576
Rothmund-Thomson Syndrome
Calcinosis, Plantar hyperkeratosis, Porokeratosis, Telangiectasia of the skin, Sparse eyelashes, ... ORPHA:2909
Cockayne Syndrome Type 2
Lower limb spasticity, Ataxia, Progeroid facial appearance, Gait disturbance, Difficulty walking,... ORPHA:90322
Pitt-Hopkins-Like Syndrome 1
Hyperactivity, Ataxia, Aggressive behavior, Attention deficit hyperactivity disorder, Spasticity,... OMIM:610042
De Sanctis-Cacchione Syndrome
Parakeratosis, Ataxia, Babinski sign, Scissor gait, Choreoathetosis, Hypertonia, Spasticity, Oliv... OMIM:278800
Niemann-Pick Disease, Type C2
Dystonia, Ataxia, Low cholesterol esterification rate, Jaundice, Dysphagia, Prolonged neonatal ja... OMIM:607625
Neurodegeneration With Brain Iron Accumulation 1
Eyelid apraxia, Hyperactivity, Ataxia, Parkinsonism, Akinesia, Tremor, Rigidity, Babinski sign, A... OMIM:234200
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1
Curly hair, Sparse scalp hair, Hyperactivity, Hyperkeratosis, Loose anagen hair, Long eyelashes, ... OMIM:607721
Cartilage-Hair Hypoplasia
Sparse eyelashes, Sparse facial hair, Sparse eyebrow, Fine hair, Sparse hair, Fair hair OMIM:250250
Pseudoxanthoma Elasticum
Telangiectasia of the skin, Hemiplegia/hemiparesis, Lack of skin elasticity, Excessive wrinkled s... ORPHA:758
Adult Syndrome
Sparse scalp hair, Alopecia, Absent nipple, Breast hypoplasia, Nail pits, Fine hair, Fingernail d... ORPHA:978
X-Linked Intellectual Disability, Cantagrel Type
Abnormal repetitive mannerisms, Tetraparesis ORPHA:85277
Celiac Disease, Susceptibility To, 1
Elevated hepatic transaminase, Alopecia, Ataxia, Hypocalcemia OMIM:212750
Intellectual Developmental Disorder, X-Linked 98
Lower limb spasticity, Hyperactivity, Ataxia, Aggressive behavior, Bulimia, Self-biting, Stereoty... OMIM:300912
Niemann-Pick Disease Type C
Tremor, Chorea, Abnormal pyramidal sign, Progressive gait ataxia, Compulsive behaviors, Limb dyst... ORPHA:646
Xfe Progeroid Syndrome
Elevated hepatic transaminase, Prematurely aged appearance, Poor coordination, Cutaneous photosen... OMIM:610965
Atypical Werner Syndrome
Abnormal hair quantity, Prominent superficial veins, Hypertriglyceridemia, Prematurely aged appea... ORPHA:79474
Porphyria, Congenital Erythropoietic
Absent eyebrow, Alopecia, Thickened skin, Jaundice, Loss of eyelashes, Elevated circulating uropo... OMIM:263700
Neurodevelopmental Disorder With Hypotonia, Impaired Language, And Dysmorphic Features
Incoordination, Supernumerary nipple, Gait ataxia, Abnormal repetitive mannerisms, Overfriendliness OMIM:616579
Potocki-Lupski Syndrome
Abnormal repetitive mannerisms, Hyperactivity, Oral-pharyngeal dysphagia, Hypocholesterolemia OMIM:610883
Nestor-Guillermo Progeria Syndrome
Sparse scalp hair, Alopecia, Prominent superficial veins, Sparse eyelashes, Progeroid facial appe... OMIM:614008
Short Stature, Developmental Delay, And Congenital Heart Defects
Self-injurious behavior, Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms... OMIM:617044
Gapo Syndrome
Prominent scalp veins, Alopecia, Sparse eyelashes, Redundant skin, Sparse eyebrow, Hypoplastic ni... OMIM:230740
Acute Radiation Syndrome
Hyperkeratosis, Scaling skin, Skin ulcer, Telangiectasia ORPHA:454831
Autoinflammation With Arthritis And Dyskeratosis
Dry skin, Follicular hyperkeratosis, Elevated circulating C-reactive protein concentration, Palmo... OMIM:617388
Chondrodysplasia Punctata, Autosomal Dominant
Sparse hair, Hyperkeratosis with erythema, Coarse hair OMIM:118650
Mandibulofacial Dysostosis With Alopecia
Alopecia, Sparse eyelashes OMIM:616367
46,Xy Sex Reversal 6
Hirsutism, Sparse axillary hair OMIM:613762
Giant Cell Arteritis
Alopecia, Hepatic failure, Ataxia, Anorexia ORPHA:397
Autosomal Recessive Primary Microcephaly
Gray matter heterotopia, Pachygyria ORPHA:2512
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2
Sparse hair, Cutis laxa, Dermal translucency OMIM:615349
Desmosterolosis
Abnormal cortical gyration, Rigidity, Hydrocephalus, Abnormality of neuronal migration, Macrogyri... ORPHA:35107
Pilarowski-Bjornsson Syndrome
Speech apraxia, Abnormal repetitive mannerisms, Long eyelashes, Broad eyebrow OMIM:617682
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type
Restlessness, Hyperactivity, Aggressive behavior, Babinski sign, Lower limb hypertonia, Patchy al... OMIM:300534
Schimmelpenning-Feuerstein-Mims Syndrome
Hypophosphatemic rickets, Alopecia, Ichthyosis OMIM:163200
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome
Broad-based gait, Elevated circulating aspartate aminotransferase concentration, Highly arched ey... OMIM:280000
Lethal Acantholytic Erosive Disorder
Absent eyebrow, Acantholysis, Absent eyelashes, Absent toenail, Absent fingernail, Congenital alo... ORPHA:158687
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Hyperactivity, Synophrys, Abnormal repetitive mannerisms, Aggressive behavior ORPHA:391307
Proximal 16P11.2 Microdeletion Syndrome
Speech apraxia, Chiari type I malformation, Choreoathetosis, Attention deficit hyperactivity diso... ORPHA:261197
Retinitis Pigmentosa With Or Without Skeletal Anomalies
Sparse eyelashes, Sparse eyebrow, Small nail, Sparse hair, High anterior hairline OMIM:250410
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Sparse hair, Aplasia/Hypoplasia of the eyebrow, Nail dysplasia, Fine hair OMIM:614091
Thanatophoric Dysplasia
Acanthosis nigricans, Gray matter heterotopia, Redundant skin ORPHA:2655
Smith-Magenis Syndrome
Hypertriglyceridemia, Synophrys, Self-injurious behavior, Gait disturbance, Attention deficit hyp... ORPHA:819
Aredyld Syndrome
Sparse body hair, Aplasia/Hypoplasia of the eyebrow ORPHA:1133
Glutaryl-Coa Dehydrogenase Deficiency
Abnormal circulating enzyme concentration or activity, Dystonia, Ataxia, Poor motor coordination,... ORPHA:25
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome
Sparse eyelashes, Hyperconvex nail, Supernumerary nipple, Sparse eyebrow, Hyperconvex fingernails... ORPHA:1071
Cerebrotendinous Xanthomatosis
Abnormal circulating enzyme concentration or activity, Resting tremor, Dystonia, Prematurely aged... ORPHA:909
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Reduced subcutaneous adipose tissue, Decreased HDL cholesterol concentration, Hypertriglyceridemi... ORPHA:280365
Epidermolysis Bullosa Simplex With Muscular Dystrophy
Hyperconvex fingernails, Alopecia, Hypoplastic fingernail ORPHA:257
Autosomal Dominant Hypocalcemia
Alopecia, Abnormal fingernail morphology, Writer's cramp, Hyperphosphatemia, Hypocalcemia, Hypoma... ORPHA:428
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Cerebellar atrophy, Olivopontocerebellar hypoplasia, Hypoplasia of the pons, Periventricular hete... ORPHA:468631
Intellectual Developmental Disorder, Autosomal Dominant 52
Hyperactivity, Synophrys, Pica, Low anterior hairline, Obsessive-compulsive trait, Abnormal repet... OMIM:617796
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Sparse scalp hair, Cerebellar vermis hypoplasia, Agenesis of cerebellar vermis, Sparse eyelashes,... OMIM:210710
Intellectual Disability-Autism-Speech Apraxia-Craniofacial Dysmorphism Syndrome
Speech apraxia, Abnormal repetitive mannerisms, Thick eyebrow ORPHA:529965
Leprosy
Absent eyebrow, Alopecia, Loss of eyelashes, Penetrating foot ulcers, Hyperkeratosis, Steppage ga... ORPHA:548
Young-Onset Parkinson Disease
Restless legs, Impulsivity, Tremor, Rigidity, Bradykinesia, Agitation, Gait imbalance, Dystonia, ... ORPHA:2828
Cockayne Syndrome A
Reduced subcutaneous adipose tissue, Dry hair, Prematurely aged appearance, Ataxia, Progeroid fac... OMIM:216400
Trichohepatoenteric Syndrome 1
Curly hair, Brittle hair, Jaundice, Fine hair, Increased serum iron, Hypoalbuminemia, Hypermethio... OMIM:222470
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Cerebral palsy, Impulsivity, Aggressive behavior, Self-injurious behavior, Hypertonia, Abnormal r... OMIM:618914
Coffin-Siris Syndrome 6
Abnormal repetitive mannerisms, Tics, Attention deficit hyperactivity disorder OMIM:617808
Developmental And Speech Delay Due To Sox5 Deficiency
Self-injurious behavior, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder... ORPHA:313892
Bone Marrow Failure Syndrome 3
Hyperactivity, Hyperkeratosis, Nail dystrophy, Small nail, Sparse hair, Aplasia/Hypoplasia of the... OMIM:617052
Alkuraya-Kucinskas Syndrome
Hydrocephalus, Gray matter heterotopia, Lissencephaly, Cerebellar hypoplasia, Oculomotor apraxia,... OMIM:617822
Dilated Cardiomyopathy With Ataxia
Elevated hepatic transaminase, Lower limb spasticity, Ataxia, Repetitive compulsive behavior, Dys... ORPHA:66634
Coffin-Lowry Syndrome
Abnormality of neuronal migration, Hyperconvex fingernails, Self-injurious behavior, Hypertonia, ... ORPHA:192
Ullrich Congenital Muscular Dystrophy 1
Torticollis, Mildly elevated creatine kinase, Follicular hyperkeratosis OMIM:254090
Cockayne Syndrome B
Reduced subcutaneous adipose tissue, Dry hair, Prematurely aged appearance, Ataxia, Progeroid fac... OMIM:133540
Chédiak-Higashi Syndrome
Hyponatremia, Cerebellar atrophy, Elevated hepatic transaminase, Hypertriglyceridemia, Hypopigmen... ORPHA:167
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Clonus, Synophrys, Hypertonia, Tics, Compulsive behaviors, Abnormal repetitive mannerisms, Intent... OMIM:619475
Wilson Disease
Acute hepatic failure, Decreased circulating ceruloplasmin concentration, Tremor, Hand tremor, Am... OMIM:277900
Acrodermatitis Enteropathica
Ridged nail, Abnormal eyebrow morphology, Alopecia, Anorexia, Paronychia, Ridged fingernail, Abno... ORPHA:37
Menkes Disease
Hypopigmentation of hair, Thickened skin, Chorea, Spontaneous hematomas, Hypertonia, Prolonged ne... ORPHA:565
Pachyonychia Congenita 3
Plantar hyperkeratosis, Onychogryposis of toenails, Palmoplantar keratoderma, Nail dystrophy, Fol... OMIM:615726
H Syndrome
Abnormal eyebrow morphology, Alopecia, Hypertriglyceridemia, Ichthyosis, Scleroderma, Hypertrichosis ORPHA:168569
Autism, Susceptibility To, 3
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines OMIM:608049
Ataxia-Telangiectasia
Conjunctival telangiectasia, Ataxia, Elevated circulating alpha-fetoprotein concentration, Abnorm... OMIM:208900
Xeroderma Pigmentosum-Cockayne Syndrome Complex
Ataxia, Prematurely aged appearance, Dry skin, Urticaria, Spasticity, Cutaneous photosensitivity ORPHA:220295
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections
Alopecia OMIM:618282
Ataxia-Telangiectasia-Like Disorder 2
Conjunctival telangiectasia, Ataxia, Progeroid facial appearance, Unsteady gait, Cutaneous telang... OMIM:615919
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities
Attention deficit hyperactivity disorder, Cerebellar vermis hypoplasia, Abnormal repetitive manne... OMIM:620073
Noonan Syndrome 2
Curly hair, Sparse eyebrow, Low posterior hairline, Hyperkeratosis, Palmoplantar cutis laxa OMIM:605275
Weaver Syndrome
Deep-set nails, Thin nail, Slurred speech, Fine hair, Poor fine motor coordination, Hypertonia, C... OMIM:277590
Orofaciodigital Syndrome Type 6
Cerebellar vermis hypoplasia, Ataxia, Highly arched eyebrow, Tremor, Abnormality of neuronal migr... ORPHA:2754
Goldberg-Shprintzen Syndrome
Highly arched eyebrow, Synophrys, Sparse hair, Pachygyria, Polymicrogyria, Thick eyebrow, Limb hy... OMIM:609460
Pediatric Systemic Lupus Erythematosus
Hemiplegia, Increased circulating lactate dehydrogenase concentration, Alopecia ORPHA:93552
Noonan Syndrome 10
Palmoplantar cutis laxa, Hyperkeratosis, Curly hair, Sparse eyebrow OMIM:616564
Acquired Generalized Lipodystrophy
Hypertriglyceridemia, Progeroid facial appearance, Acanthosis nigricans, Abnormal circulating lip... ORPHA:79086
Keutel Syndrome
Alopecia ORPHA:85202
Omenn Syndrome
Thickened skin, Alopecia, Hypoproteinemia OMIM:603554
Familial Keratoacanthoma
Hyperkeratosis, Skin ulcer ORPHA:493
Singleton-Merten Syndrome 2
Hyperkeratosis, Psoriasiform lesion OMIM:616298
Chime Syndrome
Erythema, Skin ulcer, Fine hair, Hyperkeratosis, Ichthyosis, Sparse hair ORPHA:3474
Orofaciodigital Syndrome Type 1
Elevated hepatic transaminase, Alopecia, Brittle hair, Ataxia, Tremor, Coarse hair, Dystonia, Spa... ORPHA:2750
Rothmund-Thomson Syndrome Type 1
Calcinosis, Plantar hyperkeratosis, Porokeratosis, Alopecia totalis, Telangiectasia, Facial eryth... ORPHA:221008
Eec Syndrome
Slow-growing hair, Sparse eyebrow, Nail pits, Fine hair, Hyperkeratosis, Coarse hair, Nail dystro... ORPHA:1896
Periventricular Nodular Heterotopia 9
Broad-based gait, Synophrys, Gray matter heterotopia, Compulsive behaviors, Attention deficit hyp... OMIM:618918
Osteogenesis Imperfecta, Type Xx
Sparse hair, Highly arched eyebrow, Sparse lateral eyebrow OMIM:618644
Pseudo-Torch Syndrome 2
Elevated hepatic transaminase, Gray matter heterotopia, Polymicrogyria, Cerebellar hypoplasia OMIM:617397
Lymphatic Malformation 12
Hyperkeratosis OMIM:620014
Seborrhea-Like Dermatitis With Psoriasiform Elements
Hyperkeratosis OMIM:610227
Immunodeficiency, Common Variable, 10
Chiari type I malformation, Trachyonychia, Alopecia totalis OMIM:615577
Phosphoribosylpyrophosphate Synthetase Superactivity
Sparse hair, Increased phosphoribosylpyrophosphate synthetase level, Hyperuricemia, Ataxia OMIM:300661
Phelan-Mcdermid Syndrome
Broad-based gait, Aggressive behavior, Hypoplastic toenails, Toenail dysplasia, Tongue thrusting,... OMIM:606232
Scleromyxedema
Elevated circulating creatine kinase concentration, Aged leonine appearance, Thickened skin, Gene... ORPHA:167635
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Encephalocele, Abnormal cortical gyration, Pachygyria, Abnormality of neuronal migration, Macrogy... ORPHA:2211
Pigmented Nodular Adrenocortical Disease, Primary, 4
Alopecia, Hirsutism OMIM:615830
Thrombotic Thrombocytopenic Purpura, Hereditary
Tremor, Jaundice, Elevated circulating creatinine concentration, Increased blood urea nitrogen, P... OMIM:274150
Kanzaki Disease
Telangiectasia of the oral mucosa, Lip telangiectasia, Angiokeratoma corporis diffusum, Hyperkera... OMIM:609242
Bleeding Disorder, Platelet-Type, 21
Alopecia OMIM:617443
Mandibuloacral Dysplasia With Type A Lipodystrophy
Calcinosis, Sparse scalp hair, Alopecia, Hyperlipidemia, Acanthosis nigricans, Hypercholesterolem... OMIM:248370
Dermatosparaxis Ehlers-Danlos Syndrome
Excessive wrinkled skin, Abnormality of subcutaneous fat tissue ORPHA:1901
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Alopecia, Chronic active hepatitis, Nail dystrophy, Alopecia universalis OMIM:240300
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1
Poor wound healing, Excessive wrinkled skin, Follicular hyperkeratosis, Palmoplantar cutis laxa, ... OMIM:225400
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
Curly hair, Dermal translucency, Slow-growing hair, Highly arched eyebrow, Low posterior hairline... OMIM:617506
Punctate Palmoplantar Keratoderma Type 1
Hypergranulosis, Palmoplantar hyperkeratosis, Palmoplantar keratoderma, Nail dystrophy, Orthokera... ORPHA:79501
Adult-Onset Dystonia-Parkinsonism
Eyelid apraxia, Tremor, Rigidity, Parkinsonism with favorable response to dopaminergic medication... ORPHA:199351
Alternating Hemiplegia Of Childhood
Ataxia, Anorexia, Oral-pharyngeal dysphagia, Tremor, Rigidity, Chorea, Episodic hemiplegia, Abnor... ORPHA:2131
Metachromatic Leukodystrophy
Abnormal circulating enzyme concentration or activity, Incoordination, Ataxia, Tremor, Tip-toe ga... ORPHA:512
Epidermolysis Bullosa Dystrophica, Autosomal Recessive
Alopecia, Nail dystrophy, Nail dysplasia, Dysphagia OMIM:226600
Dpagt1-Cdg
Elevated hepatic transaminase, Ataxia, Akinesia, Aggressive behavior, Tremor, Thickened skin, Abn... ORPHA:86309
Milroy Disease
Hyperkeratosis, Toenail dysplasia ORPHA:79452
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Ichthyosis follicularis, Subungual hyperkeratosis, Alopecia, Absent eyebrow, Perianal erythema, S... OMIM:308205
Johanson-Blizzard Syndrome
Alopecia, Hypoproteinemia, Abnormal hair pattern ORPHA:2315
Nablus Mask-Like Facial Syndrome
Sparse eyelashes, Highly arched eyebrow, Absent eyelashes, Sparse eyebrow, Low anterior hairline,... OMIM:608156
3C Syndrome
Hydrocephalus, Abnormality of neuronal migration, Aplasia/Hypoplasia of the cerebellum, Dandy-Wal... ORPHA:7
Wrinkly Skin Syndrome
Excessive skin wrinkling on dorsum of hands and fingers, Slurred speech, Prominent veins on trunk... ORPHA:2834
Developmental And Epileptic Encephalopathy 100
Synophrys, Chorea, Gait ataxia, Choreoathetosis, Myoclonus, Dysphagia, Pachygyria, Abnormal repet... OMIM:619777
Mogs-Cdg
Alopecia, Long eyelashes, Dystonia, Fair hair, Hirsutism ORPHA:79330
Rothmund-Thomson Syndrome Type 2
Calcinosis, Plantar hyperkeratosis, Porokeratosis, Alopecia totalis, Erythema, Facial erythema, S... ORPHA:221016
Autoimmune Polyendocrinopathy Type 2
Alopecia ORPHA:3143
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3
Sparse scalp hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow, Sparse pubic hair, Nai... OMIM:604292
Bartsocas-Papas Syndrome
Hypoplastic toenails, Sparse or absent eyelashes, Alopecia totalis, Aplasia/Hypoplasia of the eye... ORPHA:1234
Woodhouse-Sakati Syndrome
Alopecia, Hyperlipidemia, Fine hair, Choreoathetosis, Abnormality of extrapyramidal motor functio... OMIM:241080
Autosomal Dominant Spastic Paraplegia Type 9A
Tremor, Abnormal cerebellum morphology, Babinski sign, Abnormal pyramidal sign, Spastic dysarthri... ORPHA:447753
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Ataxia, Supernumerary nipple, Aggressive behavior, Unsteady gait, Abnormal temper tantrums, Hypop... ORPHA:457279
X-Linked Dominant Chondrodysplasia Punctata
Sparse eyelashes, Abnormal hair pattern, Sparse eyebrow, Scarring alopecia of scalp, Coarse hair,... ORPHA:35173
Orofaciodigital Syndrome Xvi
Oculomotor apraxia, Gray matter heterotopia, Ataxia, Inability to walk OMIM:617563
Cerebellar-Facial-Dental Syndrome
Hypoplasia of the pons, Sparse eyebrow, Fine hair, Cerebellar hypoplasia, Sparse hair, Inferior c... ORPHA:444072
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Elevated hepatic transaminase, Alopecia, Abnormal blood ion concentration, Hepatitis, Hypoalbumin... ORPHA:37042
Cutis Laxa, Autosomal Dominant 1
Prematurely aged appearance, Redundant skin, Progeroid facial appearance, Poor wound healing, Cut... OMIM:123700
White-Sutton Syndrome
Waddling gait, Hyperactivity, Aggressive behavior, Self-injurious behavior, Tics, Sparse hair, Ab... OMIM:616364
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Lower limb spasticity, Broad-based gait, Fine hair, Hypertonia, Sparse hair ORPHA:251028
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Sparse scalp hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow, Sparse pubic hair, Nai... OMIM:129900
Hypotonia, Ataxia, And Delayed Development Syndrome
Cerebellar atrophy, Speech apraxia, Broad-based gait, Cerebellar vermis hypoplasia, Ataxia, Synop... OMIM:617330
Hallermann-Streiff Syndrome
Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Telangiectasia, Fine hair, Choreoathetosis, ... OMIM:234100
Hermansky-Pudlak Syndrome
Hypopigmentation of hair, Thickened skin, Hyperkeratosis, Long eyelashes, Bruising susceptibility ORPHA:79430
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome
Sparse body hair ORPHA:3068
Oculodentodigital Dysplasia, Autosomal Recessive
Sparse hair, Sparse eyelashes, Fine hair OMIM:257850
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Alopecia, Hepatitis OMIM:304790
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy
Paroxysmal dystonia, Abnormal repetitive mannerisms, Involuntary movements, Attention deficit hyp... ORPHA:98784
Tremor, Nystagmus, And Duodenal Ulcer
Tremor, Abnormal cerebellum morphology, Kinetic tremor OMIM:190310
Hamamy Syndrome
Sparse eyelashes, Sparse eyebrow, Low posterior hairline, Sparse hair, Abnormal number of hair wh... OMIM:611174
Neuroleptic Malignant Syndrome
Hyponatremia, Elevated hepatic transaminase, Extrapyramidal muscular rigidity, Elevated circulati... ORPHA:94093
Peroxisome Biogenesis Disorder 1A (Zellweger)
Redundant neck skin, Unsteady gait, Gray matter heterotopia, Aminoaciduria, Prolonged neonatal ja... OMIM:214100
Ramon Syndrome
Hypertrichosis, Hyperkeratosis, Angiokeratoma, Telangiectasia OMIM:266270
7Q11.23 Microduplication Syndrome
Collectionism, Hyperactivity, Aggressive behavior, Sparse anterior scalp hair, Unsteady gait, Pol... ORPHA:96121
Scalp-Ear-Nipple Syndrome
Sparse axillary hair, Sparse pubic hair, Fine hair, Cutaneous photosensitivity, Patchy alopecia, ... OMIM:181270
Autoimmune Polyendocrinopathy Type 1
Alopecia, Abnormal fingernail morphology ORPHA:3453
Craniolenticulosutural Dysplasia
Sparse hair, Coarse hair, Brittle hair ORPHA:50814
Oculodentodigital Dysplasia
Dry hair, Slow-growing hair, Ataxia, Paraparesis, Fine hair, Tetraparesis, Sparse hair, Spasticit... OMIM:164200
Marshall Syndrome
Sparse hair, Sparse eyelashes, Sparse eyebrow ORPHA:560
Mycetoma
Prominent superficial veins, Cobblestone-like hyperkeratosis, Paraplegia ORPHA:2583
Colchicine Poisoning
Hyponatremia, Alopecia, Abnormal blood ion concentration, Hypophosphatemia, Hypokalemia, Hypocalc... ORPHA:31824
Centrifugal Lipodystrophy
Alopecia ORPHA:90156
Systemic Sclerosis
Alopecia, Nail bed telangiectasia, Elevated circulating creatine kinase concentration, Thickened ... ORPHA:90291
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Hyperactivity, Aggressive behavior, Self-injurious behavior, Abnormal temper tantrums, Attention ... ORPHA:449291
Congenital Disorder Of Deglycosylation 2
Cerebellar vermis hypoplasia, Highly arched eyebrow, Gray matter heterotopia, Dysphagia, Polymicr... OMIM:619775
Bohring-Opitz Syndrome
Thick hair, Supernumerary nipple, Low anterior hairline, Cutis laxa, Gray matter heterotopia, Hir... OMIM:605039
Galloway-Mowat Syndrome
Aqueductal stenosis, Hemiplegia/hemiparesis, Abnormality of neuronal migration, Hypertonia, Pachy... ORPHA:2065
Orofaciodigital Syndrome I
Alopecia, Dry hair, Abnormal cortical gyration, Myelomeningocele, Hydrocephalus, Gray matter hete... OMIM:311200
2Q37 Microdeletion Syndrome
Sparse scalp hair, Supernumerary nipple, Highly arched eyebrow, Sparse eyebrow, Compulsive behavi... ORPHA:1001
Leprechaunism
Reduced subcutaneous adipose tissue, Facial hypertrichosis, Thickened skin, Hyperkeratosis, Hypok... ORPHA:508
Neonatal Adrenoleukodystrophy
Abnormality of neuronal migration ORPHA:44
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Alopecia, Palmoplantar keratoderma, Hypoalbuminemia, Nail dystrophy, Onychogryposis ORPHA:79396
Glass Syndrome
Sparse hair, Broad-based gait, Long eyelashes, Nail dysplasia OMIM:612313
Mixed Connective Tissue Disease
Scleroderma, Alopecia ORPHA:809
Basel-Vanagaite-Smirin-Yosef Syndrome
Sparse hair OMIM:616449
Satoyoshi Syndrome
Abnormal hair morphology, Sparse or absent eyelashes, Alopecia universalis ORPHA:3130
Pitt-Hopkins Syndrome
Incoordination, Hyperconvex nail, Supernumerary nipple, Gait ataxia, Self-injurious behavior, Fro... OMIM:610954
Hutchinson-Gilford Progeria Syndrome
Alopecia OMIM:176670
Monosomy 22
Thickened skin, Synophrys, Hypertonia, Sparse hair, Scleroderma ORPHA:96123
Marshall-Smith Syndrome
Brittle hair, Highly arched eyebrow, Synophrys, Hydrocephalus, Macrogyria, Hypertonia, Cerebellar... OMIM:602535
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome
Impulsivity, Abnormality of hair texture, Aggressive behavior, Thickened skin, Synophrys, Hypopla... ORPHA:73223
Encephalocraniocutaneous Lipomatosis
Alopecia, Cerebellar hypoplasia, Dandy-Walker malformation OMIM:613001
Hydroxykynureninuria
Abnormal circulating tryptophan concentration, Hypertonia, Abnormal repetitive mannerisms ORPHA:79155
Dyskeratosis Congenita, Digenic
Alopecia, Sparse eyelashes, Nail dystrophy, Dysphagia OMIM:620040
Insulin-Resistance Syndrome Type B
Alopecia, Abnormal circulating fatty-acid concentration, Hypotriglyceridemia, Hypoalbuminemia, Ac... ORPHA:2298
Hallermann-Streiff Syndrome
Alopecia, Sparse eyelashes, Abnormality of hair texture, Sparse eyebrow, Cerebellar hypoplasia, S... ORPHA:2108
Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency
Cerebral palsy, Abnormal circulating biopterin concentration, Parkinsonism, Oculogyric crisis, Hy... ORPHA:1578
Holoprosencephaly
Hyponatremia, Encephalocele, Highly arched eyebrow, Synophrys, Chorea, Hydrocephalus, Abnormality... ORPHA:2162
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Hyperkeratosis, Elevated circulating C-reactive protein concentration OMIM:612852
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities
Hyperactivity, Broad-based gait, Ataxia, Aggressive behavior, Unsteady gait, Poor gross motor coo... OMIM:614756
Mandibuloacral Dysplasia Progeroid Syndrome
Elevated hepatic transaminase, Hypertriglyceridemia, Elevated hemoglobin A1c, Progeroid facial ap... OMIM:619127
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Alopecia ORPHA:169154
Encephalocraniocutaneous Lipomatosis
Alopecia, Paralysis, Abnormal eyelash morphology, Rigidity, Tetraplegia, Hemiparesis, Hypertonia,... ORPHA:2396
Koolen-De Vries Syndrome Due To A Point Mutation
Speech apraxia, Alopecia, Chiari type I malformation, Hyperkeratosis, Inappropriate laughter, Att... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Speech apraxia, Alopecia, Chiari type I malformation, Hyperkeratosis, Inappropriate laughter, Att... ORPHA:363958
Teebi-Shaltout Syndrome
Sparse hair, Low anterior hairline, Highly arched eyebrow, Slow-growing hair OMIM:272950
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related
Parkinsonism, Repetitive compulsive behavior, Hypersexuality, Agitation, Disinhibition, Apraxia, ... OMIM:607485
Houge-Janssens Syndrome 3
Self-injurious behavior, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder OMIM:618354
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Abnormal eyebrow morphology, Alopecia, Sparse facial hair, Sparse eyebrow, Sparse pubic hair, Alo... ORPHA:2232
Geroderma Osteodysplastica
Prematurely aged appearance, Redundant skin ORPHA:2078
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Absent eyebrow, Alopecia, Thin fingernail, Abnormal eyelash morphology, Abnormal hair morphology,... ORPHA:2273
Juvenile Dermatomyositis
Calcinosis, Alopecia, Elevated circulating creatine kinase concentration, Elevated circulating C-... ORPHA:93672
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome
Lower limb spasticity, Hyperactivity, Clonus, Hair-pulling, Synophrys, Hypertonia, Myoclonic spas... ORPHA:447997
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis
Sparse hair, Nail dysplasia, Breast hypoplasia, Small nail OMIM:614813
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities
Hyperactivity, Elongated superior cerebellar peduncle, Hypoplasia of the pons, Synophrys, Low ant... OMIM:619512
Vici Syndrome
Hypoplasia of the pons, Gray matter heterotopia, Cerebellar hypoplasia ORPHA:1493
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Alopecia, Hypokalemia, Hirsutism, Decreased circulating renin level ORPHA:90795
Ane Syndrome
Alopecia ORPHA:157954
Chromosome 15Q11.2 Deletion Syndrome
Ataxia, Clumsiness, Attention deficit hyperactivity disorder, Compulsive behaviors, Abnormal repe... OMIM:615656
Mucolipidosis Ii Alpha/Beta
Brittle hair, Increased iduronate sulfatase level, Increased serum beta-hexosaminidase, Sparse ey... OMIM:252500
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Hyponatremia, Alopecia, Alopecia totalis, Hyperkalemia, Nail dystrophy, Abnormality of the periun... ORPHA:293978
3P25.3 Microdeletion Syndrome
Abnormal repetitive mannerisms, Ataxia, Attention deficit hyperactivity disorder ORPHA:435638
White-Sutton Syndrome
Cerebellar atrophy, Hyperactivity, Incoordination, Aggressive behavior, Hypoplasia of the pons, S... ORPHA:468678
Steinert Myotonic Dystrophy
Elevated hepatic transaminase, Alopecia, Oral-pharyngeal dysphagia, Aggressive behavior, Early ba... ORPHA:273
African Trypanosomiasis
Alopecia, Abnormal central motor function, Involuntary movements, Akinesia, Paralysis, Tremor, Ag... ORPHA:3385
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Alopecia, Hyperlipidemia, Hirsutism ORPHA:189427
Early Infantile Epileptic Encephalopathy
Cerebellar atrophy, Hyperactivity, Tremor, Absent thumbnail, Choreoathetosis, Self-injurious beha... ORPHA:1934
Combined Immunodeficiency-Enteropathy Spectrum
Absent eyebrow, Thickened skin, Hepatitis, Nail dystrophy, Sparse hair, Alopecia of scalp ORPHA:436252
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities
Frontal polymicrogyria, Cerebellar vermis hypoplasia, Spastic tetraplegia, Gray matter heterotopi... OMIM:620024
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Communicating hydrocephalus, Occipital encephalocele, Agenesis of cerebellar vermis, Elevated cir... OMIM:615287
Supranuclear Palsy, Progressive, 1
Eyelid apraxia, Axial dystonia, Parkinsonism, Akinesia, Tremor, Rigidity, Dysphagia, Bradykinesia... OMIM:601104
Intellectual Developmental Disorder, Autosomal Recessive 71
Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder OMIM:618504
Multiple System Atrophy 1, Susceptibility To
Ataxia, Parkinsonism, Tremor, Rigidity, Babinski sign, Bradykinesia, Olivopontocerebellar atrophy OMIM:146500
Megalocornea-Intellectual Disability Syndrome
Hypercholesterolemia, Abnormal repetitive mannerisms, Ataxia ORPHA:2479
Kikuchi-Fujimoto Disease
Elevated hepatic transaminase, Alopecia, Ataxia, Elevated circulating C-reactive protein concentr... ORPHA:50918
Intellectual Developmental Disorder, Autosomal Dominant 38
Ataxia, Aggressive behavior, Hair-pulling, Self-injurious behavior, Bruxism, Abnormal repetitive ... OMIM:616393
Kleefstra Syndrome 1
Synophrys, Abnormal repetitive mannerisms, Compulsive behaviors, Aggressive behavior OMIM:610253
Developmental And Epileptic Encephalopathy 2
Inability to walk, Abnormal repetitive mannerisms, Myoclonus OMIM:300672
Noonan Syndrome With Multiple Lentigines
Excessive wrinkled skin ORPHA:500
Craniolenticulosutural Dysplasia
Sparse hair, Coarse hair, Brittle hair OMIM:607812
Macrocephaly-Developmental Delay Syndrome
Self-injurious behavior, Abnormal repetitive mannerisms ORPHA:397612
22Q11.2 Duplication Syndrome
Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms, Compulsive behaviors ORPHA:1727
Holoprosencephaly 14
Cerebellar atrophy, Periventricular heterotopia, Alobar holoprosencephaly, Aqueductal stenosis, P... OMIM:619895
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome
Broad-based gait, Repetitive compulsive behavior, Gait ataxia, Stereotypical body rocking, Cerebe... ORPHA:513456
Wiedemann-Steiner Syndrome
Hyperactivity, Aggressive behavior, Synophrys, Long eyelashes, Dysphagia, Congenital, generalized... ORPHA:319182
Mosaic Variegated Aneuploidy Syndrome 2
Sparse hair OMIM:614114
Dyskeratosis Congenita, X-Linked
Ridged nail, Split nail, Alopecia, Sparse eyelashes, Ataxia, Pterygium of nails, Premature grayin... OMIM:305000
Cranioectodermal Dysplasia 1
Slow-growing hair, Short nail, Thin nail, Fine hair, Ectodermal dysplasia, Hypocalcemia, Sparse h... OMIM:218330
16P13.11 Microdeletion Syndrome
Self-injurious behavior, Hypertonia, Abnormality of neuronal migration, Compulsive behaviors ORPHA:261236
Linear Nevus Sebaceus Syndrome
Aplasia/Hypoplasia of the cerebellum, Alopecia, Dandy-Walker malformation ORPHA:2612
Kinsship Syndrome
Spastic tetraparesis, Synophrys, Myoclonus, Bruxism, Abnormal repetitive mannerisms, Dandy-Walker... OMIM:619297
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Communicating hydrocephalus, Hydrocephalus, Simplified gyral pattern, Gray matter heterotopia, Li... OMIM:615219
Proteasome-Associated Autoinflammatory Syndrome 1
Elevated hepatic transaminase, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Ele... OMIM:256040
Rauch-Steindl Syndrome
Hyperactivity, Abnormal repetitive mannerisms, Highly arched eyebrow, Aggressive behavior OMIM:619695
Kleefstra Syndrome
Supernumerary nipple, Highly arched eyebrow, Aggressive behavior, Synophrys, Self-injurious behav... ORPHA:261494
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Telangiectasia of the oral mucosa, Telangiectasia of the skin, Lip telangiectasia, Angiokeratoma ... ORPHA:79280
Cerebrofacioarticular Syndrome
Gray matter heterotopia, Self-injurious behavior, Cerebellar vermis hypoplasia, Ataxia ORPHA:314679
Transketolase Deficiency
Self-injurious behavior, Attention deficit hyperactivity disorder, Compulsive behaviors, Abnormal... ORPHA:488618
Focal Dermal Hypoplasia
Acute hepatic failure, Alopecia, Abnormality of the nail ORPHA:2092
9Q21.13 Microdeletion Syndrome
Gray matter heterotopia, Difficulty walking ORPHA:531151
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Alopecia totalis, Elevated circulating creatine kinase concentration OMIM:618775
Childhood Disintegrative Disorder
Abnormal repetitive mannerisms ORPHA:168782
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Patchy alopecia, Alopecia universalis OMIM:606367
Costello Syndrome
Deep-set nails, Curly hair, Thin nail, Concave nail, Hydrocephalus, Chiari type I malformation, S... OMIM:218040
Autoimmune Polyendocrine Syndrome, Type Ii
Alopecia, Hepatitis, Chronic hepatitis OMIM:269200
Xeroderma Pigmentosum, Complementation Group B
Cutaneous photosensitivity, Ataxia, Progeroid facial appearance OMIM:610651
Meige Disease
Cobblestone-like hyperkeratosis, Skin ulcer ORPHA:90186
Chilton-Okur-Chung Neurodevelopmental Syndrome
Communicating hydrocephalus, Sparse scalp hair, Cerebellar vermis hypoplasia, Highly arched eyebr... OMIM:619841
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia
Gray matter heterotopia, Long eyelashes, Broad lateral eyebrow OMIM:608624
Lenz-Majewski Hyperostotic Dwarfism
Sparse hair, Prominent scalp veins, Cutis marmorata, Cutis laxa OMIM:151050
Bartsocas-Papas Syndrome 1
Absent eyebrow, Alopecia, Sparse scalp hair, Alopecia totalis, Absent eyelashes, Small nail, Anon... OMIM:263650
Campomelia, Cumming Type
Prematurely aged appearance ORPHA:1318
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia
Sparse hair, Fine hair, Highly arched eyebrow, Low posterior hairline OMIM:613563
Kaufman Oculocerebrofacial Syndrome
Sparse hair, Sparse eyebrow OMIM:244450
Fabry Disease
Conjunctival telangiectasia, Telangiectasia of the skin, Angiokeratoma, Hyperlipidemia, Hyperkera... ORPHA:324
Koolen-De Vries Syndrome
Fair hair, Gray matter heterotopia, Dry skin, Abnormality of hair texture OMIM:610443
Mosaic Variegated Aneuploidy Syndrome 7 With Inflammation And Tumor Predisposition
Hyperkeratosis, Pilomatrixoma OMIM:620189
Restrictive Dermopathy
Short nail, Epidermal hyperkeratosis, Sparse eyebrow, Aplasia/Hypoplastia of the eccrine sweat gl... ORPHA:1662
Kindler Epidermolysis Bullosa
Erythema, Hyperkeratosis, Palmoplantar keratoderma, Abnormal toenail morphology, Cutaneous photos... ORPHA:2908
Kyphoscoliotic Ehlers-Danlos Syndrome
Poor wound healing, Synophrys, Follicular hyperkeratosis, Difficulty walking, Bruising susceptibi... ORPHA:536545
Cranioectodermal Dysplasia 2
Elevated hepatic transaminase, Sparse eyelashes, Sparse eyebrow, Cutis laxa, Ectodermal dysplasia... OMIM:613610
Arterial Tortuosity Syndrome
Telangiectasia of the skin, Prematurely aged appearance, Redundant skin ORPHA:3342
Classical-Like Ehlers-Danlos Syndrome Type 2
Alopecia, Hypertriglyceridemia ORPHA:536532
Nmda Receptor Encephalitis
Involuntary movements, Oculogyric crisis, Rigidity, Hypersexuality, Chorea, Opisthotonus, Choreoa... ORPHA:217253
Normosmic Congenital Hypogonadotropic Hypogonadism
Sparse body hair, Breast hypoplasia ORPHA:432
Woodhouse-Sakati Syndrome
Alopecia, Hyperlipidemia, Choreoathetosis, Dystonia, Aplasia/Hypoplasia of the eyebrow ORPHA:3464
Marfanoid-Progeroid-Lipodystrophy Syndrome
Reduced subcutaneous adipose tissue, Bruising susceptibility, Progeroid facial appearance OMIM:616914
Scalp-Ear-Nipple Syndrome
Sparse hair, Breast aplasia, Abnormal fingernail morphology ORPHA:2036
Thanatophoric Dysplasia, Type I
Gray matter heterotopia, Hydrocephalus OMIM:187600
Van Maldergem Syndrome 1
Subcortical band heterotopia, Simplified gyral pattern, Gray matter heterotopia, Periventricular ... OMIM:601390
Saul-Wilson Syndrome
Prominent superficial veins, Progeroid facial appearance OMIM:618150
Reactive Arthritis
Hyperkeratosis, Dystrophic fingernails, Abnormality of the nail ORPHA:29207
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2
Waddling gait, Bruising susceptibility, Follicular hyperkeratosis, Cutis laxa OMIM:614557
Chromosome Xp11.3 Deletion Syndrome
Progeroid facial appearance OMIM:300578
Chronic Graft Versus Host Disease
Elevated hepatic transaminase, Alopecia, Anorexia, Thickened skin, Onycholysis, Nail dystrophy, D... ORPHA:99921
Prader-Willi Syndrome Due To Translocation
Hypopigmentation of hair, Head-banging, Abnormal temper tantrums, Compulsive behaviors, Attention... ORPHA:177907
Nijmegen Breakage Syndrome
Abnormal hair quantity, Abnormal hair morphology, Low anterior hairline, Abnormality of neuronal ... ORPHA:647
Van Maldergem Syndrome 2
Subcortical band heterotopia, High anterior hairline, Gray matter heterotopia, Hypoplastic nipple... OMIM:615546
Cartilage-Hair Hypoplasia
Sparse hair, Hypocalcemia, Sparse eyebrow, Spinal dysraphism ORPHA:175
Arterial Tortuosity Syndrome
Progeroid facial appearance, Bruising susceptibility, Telangiectases of the cheeks, Cutis laxa OMIM:208050
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome
Abnormality of neuronal migration ORPHA:2063
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Azotemia, Alopecia, Cerebellar cortical atrophy OMIM:619321
Distal Deletion 19P
Alopecia, Thick eyebrow ORPHA:96129
Myhre Syndrome
Ataxia, Thickened skin, Fine hair, Sparse hair, Thick eyebrow OMIM:139210
Lenz-Majewski Hyperostotic Dwarfism
Hyperconvex fingernails, Prematurely aged appearance, Redundant skin, Hypoplastic fingernail ORPHA:2658
Aicardi Syndrome
Cerebellar vermis hypoplasia, Spina bifida, Gray matter heterotopia, Chiari malformation, Pachygy... OMIM:304050
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
Head-banging, Chiari type I malformation, Self-injurious behavior, Attention deficit hyperactivit... OMIM:619575
Vici Syndrome
Hypopigmentation of hair, Cerebellar vermis hypoplasia, Elevated circulating creatine kinase conc... OMIM:242840
Acromelic Frontonasal Dysostosis
Encephalocele, Retrocerebellar cyst, Gray matter heterotopia, Periventricular nodular heterotopia... OMIM:603671
Foxg1 Syndrome Due To 14Q12 Microdeletion
Abnormal repetitive mannerisms ORPHA:261144
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Gait disturbance, Abnormal repetitive mannerisms, Abnormality of neuronal migration, Attention de... ORPHA:464311
Oculocerebrorenal Syndrome Of Lowe
Hyponatremia, Sparse scalp hair, Hypoammonemia, Clonus, Fine hair, Self-injurious behavior, Hypok... ORPHA:534
Adams-Oliver Syndrome 1
Alopecia, Supernumerary nipple, Pachygyria, Small nail, Polymicrogyria OMIM:100300
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Elevated hepatic transaminase, Elevated circulating alkaline phosphatase concentration, Sparse ha... OMIM:620005
Vascular Ehlers-Danlos Syndrome
Alopecia, Prematurely aged appearance, Redundant skin, Telangiectasia of the skin, Abnormality of... ORPHA:286
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Nail-biting, Broad-based gait, Cerebellar vermis hypoplasia, Aggressive behavior, Hair-pulling, P... OMIM:620330
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Absent nipple, Sparse eyebrow, Prolonged neonatal jaundice, Hypoplastic nipples, Small nail, Nail... OMIM:620186
Limb-Mammary Syndrome
Alopecia, Absent nipple, Sparse eyebrow, Bilateral breast hypoplasia, Breast aplasia, Hypoplastic... ORPHA:69085
Intellectual Developmental Disorder, Autosomal Dominant 68
Sparse hair OMIM:619934
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Inability to walk, Hypertonia, Abnormal repetitive mannerisms, Opisthotonus ORPHA:508533
Autosomal Recessive Robinow Syndrome
Alopecia, Long eyelashes, Fingernail dysplasia ORPHA:1507
Van Esch-O'Driscoll Syndrome
Cerebellar atrophy, Impulsivity, Unilateral vocal cord paralysis, Attention deficit hyperactivity... OMIM:301030
Miller-Dieker Lissencephaly Syndrome
Gray matter heterotopia, Lissencephaly, Pachygyria, Agyria, Progressive spastic paraplegia OMIM:247200
Cowden Syndrome
Abnormal cerebellum morphology, Palmoplantar keratoderma, Generalized hyperkeratosis, Ataxia ORPHA:201
Arima Syndrome
Dilated fourth ventricle, Agenesis of cerebellar vermis, Cerebellar vermis hypoplasia, Ataxia, Gr... OMIM:243910
Focal Dermal Hypoplasia
Ridged nail, Brittle hair, Supernumerary nipple, Hydrocephalus, Myelomeningocele, Chiari malforma... OMIM:305600
Autosomal Dominant Robinow Syndrome
Alopecia, Curly eyelashes, Long eyelashes, Fingernail dysplasia, Ridged fingernail, Onychogryposi... ORPHA:3107
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
Acanthosis nigricans, Synophrys, Abnormal repetitive mannerisms, Aggressive behavior OMIM:301066
Neurocardiofaciodigital Syndrome
Dilated fourth ventricle, Cerebellar vermis hypoplasia, Sparse hair, Sparse eyebrow OMIM:619869
Williams Syndrome
Prematurely aged appearance, Redundant skin, Hypercalcemia, Elevated circulating creatine kinase ... ORPHA:904
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Alopecia, Rigidity, Loss of eyelashes, Hypertonia, Thin eyebrow, Sparse hair, Spasticity ORPHA:2636
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia
Highly arched eyebrow, Long eyelashes, Attention deficit hyperactivity disorder, Abnormal repetit... OMIM:619005
Autoimmune Polyendocrinopathy Type 4
Alopecia, Hepatitis ORPHA:227990
Coffin-Siris Syndrome 12
Elevated hepatic transaminase, Sparse scalp hair, Highly arched eyebrow, Abnormal repetitive mann... OMIM:619325
Autoimmune Polyendocrinopathy Type 3
Alopecia, Hepatitis ORPHA:227982
Restrictive Dermopathy 1
Prominent superficial blood vessels, Sparse eyelashes, Short nail, Epidermal hyperkeratosis, Abse... OMIM:275210
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome
Unsteady gait, Nail dysplasia, Sparse hair, Loss of ambulation, Abnormal repetitive mannerisms OMIM:616682
Severe Generalized Junctional Epidermolysis Bullosa
Alopecia, Paronychia, Abnormal blood ion concentration, Nail dystrophy, Anonychia, Abnormality of... ORPHA:79404
Trichorhinophalangeal Syndrome, Type Ii
Sparse scalp hair, Thick eyebrow, Redundant skin in infancy, Dry skin, Cutis laxa, Sparse hair, A... OMIM:150230
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies
Difficulty walking, Abnormal repetitive mannerisms, Supernumerary nipple, Highly arched eyebrow OMIM:618653
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures
Sparse hair, Frontal hirsutism, Redundant neck skin OMIM:617157
Keppen-Lubinsky Syndrome
Lack of facial subcutaneous fat, Spastic tetraparesis, Progeroid facial appearance, Opisthotonus,... OMIM:614098
Ventriculomegaly With Cystic Kidney Disease
Gray matter heterotopia, Hydrocephalus OMIM:219730
Turner Syndrome Due To Structural X Chromosome Anomalies
Elevated hepatic transaminase, Alopecia, Abnormal fingernail morphology, Hypoplastic toenails, Lo... ORPHA:99413
Mosaic Monosomy X
Elevated hepatic transaminase, Alopecia, Abnormal fingernail morphology, Hypoplastic toenails, Lo... ORPHA:99228
Monosomy X
Elevated hepatic transaminase, Alopecia, Abnormal fingernail morphology, Hypoplastic toenails, Lo... ORPHA:99226
Turner Syndrome
Elevated hepatic transaminase, Alopecia, Abnormal fingernail morphology, Hypoplastic toenails, Lo... ORPHA:881
Dyrk1A-Related Intellectual Disability Syndrome
Hyperactivity, Abnormal repetitive mannerisms, Breast hypoplasia, Gait disturbance ORPHA:464306
Phakomatosis Pigmentokeratotica
Hypophosphatemic rickets, Patchy alopecia, Hemiparesis ORPHA:2874
Classical Ehlers-Danlos Syndrome
Striae distensae, Prematurely aged appearance, Poor wound healing, Ecchymosis, Acrocyanosis, Frag... ORPHA:287
Helsmoortel-Van Der Aa Syndrome
Hyperactivity, Abnormal repetitive mannerisms, Bruxism, Dysphagia, Compulsive behaviors, Attentio... OMIM:615873
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Sparse pubic hair, Sparse body hair, Sparse axillary hair ORPHA:90796
Branchioskeletogenital Syndrome
Synophrys, Absent nipple, Periorbital wrinkles, Highly arched eyebrow ORPHA:1299
Arboleda-Tham Syndrome
Highly arched eyebrow, Dysphagia, Lower limb hypertonia, Gait imbalance, Thin eyebrow, Dystonia, ... OMIM:616268
Primrose Syndrome
Sparse scalp hair, Restlessness, Ataxia, Absent facial hair, Elevated circulating alpha-fetoprote... OMIM:259050
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Spasticity, Abnormal repetitive mannerisms OMIM:301040
Lowe Oculocerebrorenal Syndrome
Increased circulating lactate dehydrogenase concentration, Elevated circulating creatine kinase c... OMIM:309000
Cutis Laxa, Autosomal Recessive, Type Ic
Redundant skin, Progeroid facial appearance, Cutis laxa OMIM:613177
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects
Highly arched eyebrow, Spastic tetraparesis, Synophrys, Low anterior hairline, Hypertonia, Abnorm... OMIM:301044
Systemic Lupus Erythematosus
Alopecia, Chorea ORPHA:536
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Gray matter heterotopia, Bruxism ORPHA:453499
Roberts Syndrome
Sparse hair ORPHA:3103
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Inability to walk, Gray matter heterotopia, Supernumerary nipple, Bruxism ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Inability to walk, Gray matter heterotopia, Supernumerary nipple, Bruxism ORPHA:352665
Relapsing Polychondritis
Alopecia, Hepatitis ORPHA:728
Proteus Syndrome
Thickened skin, Abnormal subcutaneous fat tissue distribution, Vascular skin abnormality, Gray ma... ORPHA:744
Renpenning Syndrome 1
Sparse hair, Brittle hair, Sparse lateral eyebrow OMIM:309500
Lymphatic Filariasis
Hyperkeratosis ORPHA:2035
1P36 Deletion Syndrome
Abnormal eyebrow morphology, Hemiplegia/hemiparesis, Polyphagia, Self-injurious behavior, Gait di... ORPHA:1606
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type
Hyperactivity, Poor coordination, Spastic diplegia, Low posterior hairline, Small nail, Abnormal ... OMIM:309590
Sympathetic Ophthalmia
Alopecia, Poliosis ORPHA:79098
Sarcoidosis
Alopecia, Hypercalcemia, Portal hypertension, Decreased liver function, Hepatic failure ORPHA:797
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Abnormal repetitive mannerisms, Hypertrichosis ORPHA:508498
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Pilomatrixoma, S... ORPHA:353281
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Parakeratosis, Coarse hair ORPHA:83617
Warburg-Cinotti Syndrome
Poor wound healing, Erythema, Follicular hyperkeratosis OMIM:618175
Genitourinary And/Or Brain Malformation Syndrome
Gray matter heterotopia, Holoprosencephaly, Chiari malformation, Polymicrogyria OMIM:618820
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Frontal balding, Highly arched eyebrow, Tremor, Synophrys, Self-injurious behavior, Long lower ey... OMIM:612474
Branchiooculofacial Syndrome
Supernumerary nipple, Low posterior hairline, Premature graying of hair, White forelock, Sparse h... OMIM:113620
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Hyperactivity, Trichiasis, Highly arched eyebrow, Aggressive behavior, Pilomatrixoma, Abnormal fe... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Hyperactivity, Trichiasis, Highly arched eyebrow, Aggressive behavior, Pilomatrixoma, Abnormal fe... ORPHA:353277
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Broad-based gait, Agenesis of cerebellar vermis, Cerebellar vermis hypoplasia, Periventricular he... ORPHA:261537
Mucopolysaccharidosis Type 2
Hyperactivity, Impulsivity, Aggressive behavior, Abnormal temper tantrums, Abnormal repetitive ma... ORPHA:580
Menke-Hennekam Syndrome 1
Sparse hair, Long eyelashes, Thick eyebrow OMIM:618332
Hemihyperplasia-Multiple Lipomatosis Syndrome
Hyperparakeratosis, Telangiectasia of the skin ORPHA:276280
Pagod Syndrome
Encephalocele, Meningocele, Abnormality of neuronal migration, Spina bifida ORPHA:991
Ring Chromosome 13 Syndrome
Alopecia ORPHA:96176
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Broad-based gait, Agenesis of cerebellar vermis, Cerebellar vermis hypoplasia, Highly arched eyeb... ORPHA:261552
Mowat-Wilson Syndrome
Broad-based gait, Cerebellar vermis hypoplasia, Agenesis of cerebellar vermis, Ataxia, Periventri... ORPHA:2152
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Holoprosencephaly, Abnormality of neuronal migration ORPHA:3186
Viss Syndrome
Sparse scalp hair, Alopecia, Hirsutism, Dysphagia OMIM:619472
Pallister-Killian Syndrome
Sparse scalp hair, Alopecia, Sparse eyelashes, Supernumerary nipple, Sparse eyebrow, Sparse anter... OMIM:601803
Norrie Disease
Clonus, Self-injurious behavior, Hypertonia, Attention deficit hyperactivity disorder, Aplasia/Hy... ORPHA:649
Mismatch Repair Cancer Syndrome 1
Gray matter heterotopia OMIM:276300
Wolf-Hirschhorn Syndrome
Hyperconvex fingernails, Abnormal repetitive mannerisms, Highly arched eyebrow, Low posterior hai... OMIM:194190
Hydrolethalus Syndrome 1
Abnormal cortical gyration, Anencephaly, Gray matter heterotopia, Severe hydrocephalus, Dandy-Wal... OMIM:236680
Roberts-Sc Phocomelia Syndrome
Sparse hair, Stillbirth OMIM:268300
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Exaggerated startle response, Hypoplastic toenails, Attention deficit hyperactivity disorder, Dys... OMIM:619522

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Ass1

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Ass1.

There are 1 publication which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Intracellular arginine-dependent translation sensor reveals the dynamics of arginine starvation response and resistance in ASS1-negative cells. Cancer & metabolism (January 2021) Ass1tm1a(EUCOMM)Hmgu PMC7818940

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MGI Allele Allele Type Produced
Ass1tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells
Ass1tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Ass1tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells

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