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Gene: Aifm1 MGI:1349419

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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:
apoptosis-inducing factor, mitochondrion-associated 1
Synonyms:
AIFsh2,  AIF,  apoptosis-inducing factor,  Pdcd8

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 Aifm1 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 Aifm1 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
X-Linked Charcot-Marie-Tooth Disease Type 4
Ataxia, Impaired pain sensation, Decreased nerve conduction velocity, Tremor, Gait disturbance ORPHA:101078
Leukoencephalopathy-Spondyloepimetaphyseal Dysplasia Syndrome
Tremor, Babinski sign, Spastic paraplegia, Cerebral atrophy, Tip-toe gait, Abnormal optic nerve m... ORPHA:83629
Combined Oxidative Phosphorylation Deficiency 6
Generalized-onset seizure, Involuntary movements, Tetraplegia, Seizure, Tongue fasciculations OMIM:300816
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy
Optic disc pallor, Ataxia, Short stature, Babinski sign, Low anterior hairline, Seizure, Tetrapar... OMIM:300232
Charcot-Marie-Tooth Disease, X-Linked Recessive, 4, With Or Without Cerebellar Ataxia
Elevated hepatic transaminase, Elevated circulating creatine kinase concentration, Distal sensory... OMIM:310490
Severe X-Linked Mitochondrial Encephalomyopathy
Involuntary movements, Sensory axonal neuropathy, Tongue fasciculations ORPHA:238329
Deafness, X-Linked 5, With Peripheral Neuropathy
Unsteady gait, Sensory axonal neuropathy, Distal sensory impairment OMIM:300614

The table below shows human diseases predicted to be associated to Aifm1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Hypotrichosis 15
Sparse scalp hair OMIM:620177
Hypotrichosis 2
Sparse scalp hair OMIM:146520
Hypotrichosis 9
Sparse scalp hair, Sparse body hair OMIM:614237
Alopecia, Congenital
Sparse hair, Alopecia OMIM:300042
Hypotrichosis Simplex
Sparse scalp hair, Alopecia, Sparse eyelashes, Sparse eyebrow, Sparse hair, Sparse body hair ORPHA:55654
Hypotrichosis 1
Sparse eyelashes, Sparse axillary hair, Sparse pubic hair, Sparse eyebrow, Abnormality of the nai... OMIM:605389
Hypotrichosis 10
Sparse eyebrow, Sparse eyelashes, Sparse body hair OMIM:614238
Atrichia With Papular Lesions
Sparse hair OMIM:209500
Hypotrichosis 11
Sparse or absent eyelashes, Alopecia universalis, Absent axillary hair, Sparse hair, Aplasia/Hypo... OMIM:615059
Hypotrichosis 4
Sparse scalp hair, Alopecia, Sparse eyelashes, Sparse eyebrow, Uncombable hair, Sparse body hair OMIM:146550
Ichthyosis-Hypotrichosis Syndrome
Sparse hair ORPHA:91132
Leukomelanoderma, Infantilism, Mental Retardation, Hypodontia, Hypotrichosis
Sparse hair OMIM:246500
Ectodermal Dysplasia 6, Hair/Nail Type
Sparse hair, Alopecia, Thin toenail, Dystrophic toenail OMIM:614928
Woolly Hair, Autosomal Recessive 3
Sparse scalp hair, Curly hair, Sparse eyelashes, Fine hair, Sparse hair, Trichorrhexis nodosa OMIM:616760
Alopecia, Familial Focal
Patchy alopecia OMIM:104110
Alopecia Areata 2
Alopecia of scalp, Patchy alopecia, Alopecia totalis, Alopecia universalis OMIM:610753
Alopecia-Intellectual Disability Syndrome 3
Alopecia universalis OMIM:613930
Alopecia-Intellectual Disability Syndrome 2
Alopecia universalis OMIM:610422
Alopecia Totalis
Alopecia, Alopecia of scalp ORPHA:700
Alopecia-Intellectual Disability Syndrome 1
Alopecia, Alopecia universalis OMIM:203650
Alopecia, Androgenetic, 1
Alopecia OMIM:109200
Witkop Syndrome
Ridged nail, Concave nail, Nail pits, Fine hair, Small nail, Sparse hair OMIM:189500
Alopecia Universalis Congenita
Absent eyebrow, Absent eyelashes, Absent pubic hair, Absent axillary hair, Alopecia universalis OMIM:203655
Hypertrichosis, Anterior Cervical
Anterior cervical hypertrichosis OMIM:600457
Hypertrichosis Universalis Congenita, Ambras Type
Congenital, generalized hypertrichosis OMIM:145701
Hypertrichosis Lanuginosa Congenita
Congenital, generalized hypertrichosis, Double eyebrow OMIM:145700
Graham Little-Piccardi-Lassueur Syndrome
Sparse pubic hair, Sparse scalp hair, Alopecia, Sparse axillary hair ORPHA:505
Ectodermal Dysplasia 9, Hair/Nail Type
Concave nail, Absent eyelashes, Atrichia, Nail dystrophy, Nail dysplasia, Sparse hair, Absent hair OMIM:614931
Alopecia Universalis
Absent eyelashes, Absent eyebrow, Patchy alopecia, Alopecia universalis ORPHA:701
Hypotrichosis, Congenital, With Juvenile Macular Dystrophy
Sparse hair, Reduced terminal:vellus ratio, Pili torti OMIM:601553
Angioma Serpiginosum, X-Linked
Sparse hair, Nail dystrophy, Fine hair OMIM:300652
Odonto-Onycho Dysplasia-Alopecia Syndrome
Alopecia, Abnormal fingernail morphology, Hypoplastic toenails, Sparse eyebrow, Sparse hair, Spar... ORPHA:2722
Hidrotic Ectodermal Dysplasia, Christianson-Fourie Type
Sparse scalp hair, Absent eyebrow, Sparse eyelashes, Sparse axillary hair, Abnormal hair morpholo... ORPHA:1808
Osteopenia And Sparse Hair
Sparse hair OMIM:259690
Trichodysplasia-Xeroderma Syndrome
Sparse scalp hair, Alopecia, Brittle hair, Sparse eyebrow, Sparse body hair, Coarse hair, Trichod... ORPHA:3361
Alopecia Areata 1
Trachyonychia, Alopecia totalis, Nail pits, Patchy alopecia, Alopecia universalis OMIM:104000
Hypertrichosis, Congenital Generalized
Congenital, generalized hypertrichosis, Hirsutism OMIM:307150
Ringed Hair Disease
Abnormal hair pattern, Fine hair ORPHA:169
Hypotrichosis 13
Sparse hair, Woolly hair, Sparse eyelashes, Abnormal sweat gland morphology OMIM:615896
Hypotrichosis 14
Sparse pubic hair, Short eyelashes, Absent axillary hair, Sparse hair, Sparse body hair OMIM:618275
Spinocerebellar Ataxia, Autosomal Recessive 12
Cerebellar atrophy, Lower limb spasticity, Ataxia, Bilateral tonic-clonic seizure, Babinski sign,... OMIM:614322
Pili Bifurcati
Abnormal hair morphology, Abnormality of hair texture ORPHA:720
Ceroid Lipofuscinosis, Neuronal, 3
Bilateral tonic-clonic seizure, Increased neuronal autofluorescent lipopigment, Increased extrane... OMIM:204200
Hair Defect With Photosensitivity And Mental Retardation
Brittle hair, Sparse eyelashes, Sparse eyebrow, Coarse hair, Sparse hair OMIM:234030
Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy
Alopecia, Onychogryposis of toenails, Alopecia of scalp, Sparse body hair, Dystrophic toenail OMIM:617294
Monilethrix
Alopecia, Brittle hair, Abnormality of hair texture, Nail dystrophy, Nail dysplasia, Sparse hair OMIM:158000
Ectodermal Dysplasia 4, Hair/Nail Type
Absent eyebrow, Alopecia, Brittle hair, Absent eyelashes, Onycholysis, Nail dystrophy, Sparse bod... OMIM:602032
Perifolliculitis Capitis Abscedens Et Suffodiens, Familial
Alopecia, Alopecia of scalp OMIM:260910
Ectodermal Dysplasia 5, Hair/Nail Type
Sparse scalp hair, Dystrophic fingernails, Absent toenail OMIM:614927
Inflammatory Poikiloderma With Hair Abnormalities And Acral Keratoses
Sparse eyebrow, Sparse scalp hair, Absent eyebrow, Sparse eyelashes OMIM:620199
Hypotrichosis 8
Ridged nail, Sparse scalp hair, Dry hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow,... OMIM:278150
Woolly Hair, Hypotrichosis, Everted Lower Lip, And Outstanding Ears
Sparse hair, Woolly hair OMIM:278200
Hypotrichosis 7
Sparse scalp hair, Brittle hair, Sparse eyelashes, Sparse axillary hair, Abnormal sweat gland mor... OMIM:604379
Aredyld
Generalized hypotrichosis OMIM:207780
Sabinas Brittle Hair Syndrome
Dry hair, Brittle hair, Nail dystrophy, Nail dysplasia, Sparse hair OMIM:211390
Cervical Hypertrichosis With Underlying Kyphoscoliosis
Anterior cervical hypertrichosis, Sacral hypertrichosis, Lumbar hypertrichosis, Thoracic hypertri... OMIM:117850
Alopecia-Intellectual Disability-Hypergonadotropic Hypogonadism Syndrome
Alopecia totalis ORPHA:1014
Ceroid Lipofuscinosis, Neuronal, 5
Cerebellar atrophy, Ataxia, Increased neuronal autofluorescent lipopigment, Limb tremor, Dysmetri... OMIM:256731
Palmoplantar Keratoderma And Woolly Hair
Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Leukonychia, Woolly hair, Sparse body hair OMIM:616099
Hidrotic Ectodermal Dysplasia
Absent eyebrow, Alopecia, Hypopigmentation of hair, Sparse eyelashes, Brittle scalp hair, Sparse ... ORPHA:189
Marie Unna Hereditary Hypotrichosis
Sparse scalp hair, Alopecia, Sparse or absent eyelashes, Coarse hair, Aplasia/Hypoplasia of the e... ORPHA:444
Tooth Agenesis, Selective, 8
Sparse eyebrow, Sparse hair OMIM:617073
Uncombable Hair Syndrome
Abnormal hair morphology, White hair, Coarse hair, Patchy alopecia, Trichodysplasia, Woolly hair ORPHA:1410
Monilethrix
Abnormal eyebrow morphology, Brittle hair, Slow-growing hair, Abnormal eyelash morphology, Fine h... ORPHA:573
Hypotrichosis 12
Sparse scalp hair, Dry hair, Slow-growing hair, Sparse axillary hair, Abnormal sweat gland morpho... OMIM:615885
Woolly Hair
Hypopigmentation of hair, Brittle hair, Slow-growing hair, Abnormality of hair texture, Fine hair... ORPHA:170
Hypotrichosis 6
Brittle hair, Sparse eyelashes, Sparse eyebrow, Sparse hair, Pili torti OMIM:607903
Ceroid Lipofuscinosis, Neuronal, 2
Ataxia, Increased extraneuronal autofluorescent lipopigment, Increased neuronal autofluorescent l... OMIM:204500
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome
Alopecia, Small for gestational age, Ataxia, Growth delay, Pigmentary retinopathy, Seizure, Long ... ORPHA:3363
Neuroectodermal Melanolysosomal Disease
Hypopigmentation of hair, Ataxia, Tremor, Rigidity, Optic atrophy, Premature graying of hair, Sei... ORPHA:33445
Crandall Syndrome
Alopecia, Brittle hair, Fine hair, Pili torti, Sparse body hair, Aplasia/Hypoplasia of the eyebrow ORPHA:202
Trichodental Dysplasia
Sparse hair, Brittle hair, Slow-growing hair, Fine hair OMIM:601453
Optic Atrophy 2
Tremor, Dysdiadochokinesis, Babinski sign, Optic atrophy OMIM:311050
Spinocerebellar Ataxia 43
Ataxia, Tremor, Rigidity, Limb ataxia, Distal sensory impairment, Gait ataxia, Cerebellar vermis ... OMIM:617018
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
Abnormal eyelash morphology, Sparse scalp hair, Sparse body hair, Alopecia universalis ORPHA:1008
Hypotrichosis-Intellectual Disability, Lopes Type
Sparse hair ORPHA:2266
Juvenile Neuronal Ceroid Lipofuscinosis
Cerebellar atrophy, Abnormal circulating enzyme concentration or activity, Tachycardia, Optic dis... ORPHA:79264
Ceroid Lipofuscinosis, Neuronal, 1
Ataxia, Increased neuronal autofluorescent lipopigment, Optic atrophy, Cerebral atrophy, Macular ... OMIM:256730
Ectodermal Dysplasia, Trichoodontoonychial Type
Abnormal eyelash morphology, Sparse hair, Abnormal toenail morphology, Sparse body hair, Aplasia/... ORPHA:1818
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay
Tremor, Seizure, Ataxia, Cerebellar hypoplasia OMIM:213000
Hypotrichosis And Recurrent Skin Vesicles
Sparse scalp hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow, Leukonychia, Sparse ha... OMIM:613102
Oliver-Mcfarlane Syndrome
Alopecia, Severe short stature, Small for gestational age, Peripheral axonal neuropathy, Long eye... OMIM:275400
Spinocerebellar Ataxia 7
Tremor, Chorea, Babinski sign, Optic atrophy, Dysmetria, Progressive cerebellar ataxia, Macular d... OMIM:164500
Spastic Paraplegia 11, Autosomal Recessive
Decreased number of peripheral myelinated nerve fibers, Lower limb spasticity, Ataxia, Degenerati... OMIM:604360
Late Infantile Neuronal Ceroid Lipofuscinosis
Abnormal amplitude of flash visual evoked potentials, Myoclonic seizure, Retinal degeneration, At... ORPHA:168491
Axin2-Related Attenuated Familial Adenomatous Polyposis
Sparse hair ORPHA:401911
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency
Hypoplasia of the pons, Impaired proprioception, Hand tremor, Head tremor, Alopecia, Retinal atro... ORPHA:412057
Congenital Muscular Dystrophy With Cerebellar Involvement
Dilated fourth ventricle, Fusion of the cerebellar hemispheres, Retinal detachment, Optic nerve h... ORPHA:370959
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities
Ataxia, Tremor, Obesity, Cerebellar hypoplasia, Limb dystonia, Intrauterine growth retardation, H... OMIM:620270
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Cerebellar atrophy, Diffuse cerebral atrophy, Bilateral tonic-clonic seizure, Oculogyric crisis, ... ORPHA:330050
Hsd10 Disease, Infantile Type
Abnormal circulating enzyme concentration or activity, Diffuse cerebral atrophy, Spastic tetrapar... ORPHA:391428
Hsd10 Mitochondrial Disease
Optic atrophy, Spastic tetraplegia, Spasticity, Choreoathetosis, Seizure, Hypertrophic cardiomyop... OMIM:300438
Ceroid Lipofuscinosis, Neuronal, 10
Cerebellar atrophy, Retinal atrophy, Ataxia, Increased neuronal autofluorescent lipopigment, Rigi... OMIM:610127
Spinocerebellar Ataxia Type 38
Cerebellar atrophy, Somatic sensory dysfunction, Tremor, Gait ataxia, Difficulty walking ORPHA:423296
Ectodermal Dysplasia 10A, Hypohidrotic/Hair/Nail Type, Autosomal Dominant
Ridged nail, Sparse eyelashes, Slow-growing hair, Sparse eyebrow, Fine hair, Sparse hair OMIM:129490
Spinocerebellar Ataxia, Autosomal Recessive 4
Cerebellar atrophy, Torticollis, Peripheral axonal neuropathy, Ataxia, Tremor, Babinski sign, Abn... OMIM:607317
Non-Specific Early-Onset Epileptic Encephalopathy
Ataxia, Short stature, Abnormality of coordination, Involuntary movements, Tremor, Rigidity, Unst... ORPHA:442835
Spinocerebellar Ataxia 37
Cerebellar atrophy, Ataxia, Tremor, Unsteady gait, Frequent falls OMIM:615945
Adult-Onset Autosomal Recessive Cerebellar Ataxia
Cerebellar atrophy, Abnormal circulating enzyme concentration or activity, Generalized-onset seiz... ORPHA:284289
Filippi Syndrome
Cerebellar atrophy, Dystonia, Ventricular septal defect, Postnatal growth retardation, Optic atro... OMIM:272440
Spinocerebellar Ataxia Type 31
Cerebellar atrophy, Impaired vibratory sensation, Tremor, Gait ataxia, Spasticity ORPHA:217012
Migraine, Familial Hemiplegic, 1
Cerebellar atrophy, Ataxia, Tremor, Hemiparesis, Seizure, Hemiplegia OMIM:141500
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome
Cerebellar atrophy, Peripheral axonal neuropathy, Optic nerve hypoplasia, Optic atrophy, Spastici... ORPHA:496790
Alg6-Cdg
Abnormal circulating enzyme concentration or activity, Ataxia, Rod-cone dystrophy, Jaundice, Seiz... ORPHA:79320
Trichothiodystrophy 5, Nonphotosensitive
Broad-based gait, Brittle hair, Slow-growing hair, Retinal dystrophy, Optic nerve hypoplasia, Sho... OMIM:300953
Hyperleucine-Isoleucinemia
Seizure, Failure to thrive, Retinal degeneration OMIM:238340
Thiamine-Responsive Megaloblastic Anemia Syndrome
Cone/cone-rod dystrophy, Ataxia, Ventricular septal defect, Short stature, Situs inversus totalis... OMIM:249270
Hypotrichosis 5
Alopecia, Sparse eyelashes, Abnormal sweat gland morphology, Absent pubic hair, Thin eyebrow, Abs... OMIM:612841
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome
Dilated fourth ventricle, Cerebellar dysplasia, Retinal atrophy, Ataxia, Retinal dystrophy, Elong... ORPHA:370022
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Cerebellar atrophy, Diffuse cerebral atrophy, Ataxia, Bilateral tonic-clonic seizure, Tremor, Foc... OMIM:615362
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2
Cerebellar atrophy, Atrophy of the dentate nucleus, Broad-based gait, Ataxia, Short stature, Trem... OMIM:610185
Spinocerebellar Ataxia 38
Peripheral axonal neuropathy, Ataxia, Tremor, Limb ataxia, Gait ataxia, Myoclonus, Atrophy/Degene... OMIM:615957
Autosomal Recessive Progressive External Ophthalmoplegia
Cerebellar atrophy, Ataxia, Facial palsy, Abnormal retinal morphology, Elevated circulating creat... ORPHA:254886
Ceroid Lipofuscinosis, Neuronal, 6A
Seizure, Increased neuronal autofluorescent lipopigment, Retinal degeneration OMIM:601780
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Cerebellar atrophy, Optic disc pallor, Short stature, Macular atrophy, Periventricular heterotopi... OMIM:616171
Glycosylphosphatidylinositol Biosynthesis Defect 15
Cerebellar atrophy, Bilateral tonic-clonic seizure, Tremor, Inability to walk, Optic atrophy, Gen... OMIM:617810
Trichothiodystrophy 9, Nonphotosensitive
Sparse eyebrow, Tiger tail banding, Sparse hair, Nail dystrophy OMIM:619692
Adult Neuronal Ceroid Lipofuscinosis
Ataxia, Tremor, Abnormal pyramidal sign, Abnormal heart morphology, Clumsiness, Seizure, Abnormal... ORPHA:79262
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Cerebellar atrophy, Optic disc pallor, Ataxia, Macular coloboma, Abnormal auditory evoked potenti... OMIM:619260
Uncombable Hair Syndrome 3
Uncombable hair, Curly hair, Brittle hair, Pili canaliculi OMIM:617252
Microphthalmia, Syndromic 3
Optic nerve aplasia, Anophthalmia, Ventricular septal defect, Optic nerve hypoplasia, Short statu... OMIM:206900
Nephronophthisis 15
Elevated hepatic transaminase, Cerebellar vermis hypoplasia, Obesity, Seizure, Retinal degeneration OMIM:614845
Liberfarb Syndrome
Optic disc pallor, Bone spicule pigmentation of the retina, Short stature, Retinal pigment epithe... OMIM:618889
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Cerebellar dysplasia, Retinal detachment, Optic nerve hypoplasia, Elevated circulating creatine k... OMIM:615181
X-Linked Intellectual Disability, Najm Type
Optic nerve hypoplasia, Rigidity, Optic atrophy, Seizure, Gait disturbance, Cerebellar hypoplasia... ORPHA:163937
Bazex-Dupré-Christol Syndrome
Sparse scalp hair, Sparse eyebrow, Sparse or absent eyelashes, Coarse hair, Sparse hair, Pili tor... ORPHA:113
Diabetes And Deafness, Maternally Inherited
Unsteady gait, Cardiomyopathy, Seizure, Pigmentary retinopathy, Retinal degeneration OMIM:520000
Optic Atrophy 11
Ataxia, Optic nerve hypoplasia, Short stature, Splenomegaly, Gait apraxia, Optic atrophy, Dysmetr... OMIM:617302
Congenital Disorder Of Glycosylation, Type Ie
Elevated hepatic transaminase, Hepatomegaly, Ataxia, Elevated circulating creatine kinase concent... OMIM:608799
Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, And Facial Dysmorphism
Sparse hair, Widow's peak, Thick eyebrow OMIM:606242
Spinocerebellar Ataxia Type 37
Somatic sensory dysfunction, Tremor, Cogwheel rigidity, Dysdiadochokinesis, Gait disturbance, Myo... ORPHA:363710
Retinoschisis 1, X-Linked, Juvenile
Retinal detachment, Retinal atrophy, Retinal pigment epithelial atrophy, Macular atrophy, Mizuo p... OMIM:312700
Palmoplantar Keratoderma And Congenital Alopecia 1
Alopecia, Brittle hair, Sparse eyebrow, Leukonychia, Nail dysplasia, Sparse hair OMIM:104100
Choroidal Atrophy-Alopecia Syndrome
Abnormal fingernail morphology, Supernumerary nipple, Bifid nail, Fine hair, Sparse or absent eye... ORPHA:1433
Peroxisome Biogenesis Disorder 8B
Clonus, Dysmetria, Gait ataxia, Hypertonia, Loss of ambulation, Ataxia, Limb tremor, Decreased li... OMIM:614877
Mucolipidosis Iv
Cerebellar atrophy, Babinski sign, Optic atrophy, Spastic tetraplegia, Dystonia, Retinal degenera... OMIM:252650
Charcot-Marie-Tooth Disease, Demyelinating, Type 1H
Macular degeneration, Distal sensory impairment OMIM:619764
Macular Degeneration, Age-Related, 13
Drusen, Macular degeneration, Choroidal neovascularization, Macular scar OMIM:615439
Ectodermal Dysplasia 15, Hypohidrotic/Hair Type
Sparse scalp hair, Sparse eyelashes, Slow-growing hair, Sparse hair, Sparse body hair OMIM:618535
Hypotrichosis 3
Abnormal eyelash morphology, Sparse scalp hair, Abnormality of the nail, Abnormal sweat gland mor... OMIM:613981
X-Linked Neurodegenerative Syndrome, Bertini Type
Generalized myoclonic seizure, Macular degeneration, Ataxia ORPHA:85334
Aceruloplasminemia
Abnormal circulating enzyme concentration or activity, Abnormality of retinal pigmentation, Torti... ORPHA:48818
Cln5 Disease
Cerebellar atrophy, Generalized-onset seizure, Ataxia, Abnormal central motor function, Atrophy/D... ORPHA:228360
Coloboma, Ocular, Autosomal Dominant
Optic nerve aplasia, Remnants of the hyaloid vascular system, Morning glory anomaly, Optic disc c... OMIM:120200
Moynahan Syndrome
Sparse hair, Alopecia ORPHA:2574
Alopecia Antibody Deficiency
Abnormal eyelash morphology, Sparse hair, Aplasia/Hypoplasia of the eyebrow, Sparse body hair ORPHA:1006
Epilepsy, Progressive Myoclonic 7
Cerebellar atrophy, Ataxia, Bilateral tonic-clonic seizure, Tremor, Myoclonic seizure, Myoclonus OMIM:616187
Schopf-Schulz-Passarge Syndrome
Ridged nail, Narrow nail, Thin nail, Poroma, Onycholysis, Nail dystrophy, Small nail, Sparse hair... OMIM:224750
Myopathy With Extrapyramidal Signs
Elevated circulating creatine kinase concentration, Clonus, Tremor, Chorea, Choreoathetosis, Cere... OMIM:615673
Leukoencephalopathy, Brain Calcifications, And Cysts
Ataxia, Tremor, Abnormal pyramidal sign, Seizure, Abnormality of extrapyramidal motor function, G... OMIM:614561
Refsum Disease, Classic
Decreased phytanoyl-CoA hydroxylase activity, Somatic sensory dysfunction, Ataxia, Cardiomegaly, ... OMIM:266500
Mepan Syndrome
Cerebellar atrophy, Axial dystonia, Dystonia, Ataxia, Hemidystonia, Chorea, Optic atrophy, Cerebr... ORPHA:508093
Poretti-Boltshauser Syndrome
Dilated fourth ventricle, Cerebellar dysplasia, Cerebellar vermis hypoplasia, Retinal atrophy, Re... OMIM:615960
Cln3 Disease
Cerebellar atrophy, Extrapyramidal muscular rigidity, Ataxia, Bull's eye maculopathy, Bilateral t... ORPHA:228346
Retinal Degeneration And Epilepsy
Seizure, Retinal degeneration OMIM:267740
Flynn-Aird Syndrome
Alopecia, Ataxia, Seizure, Alopecia of scalp, Rod-cone dystrophy OMIM:136300
Hidrotic Ectodermal Dysplasia, Halal Type
Sparse scalp hair, Absent eyebrow, Abnormal fingernail morphology, Supernumerary nipple, Absent e... ORPHA:1809
Stargardt Disease 1
Macular degeneration, Retinitis pigmentosa inversa, Bull's eye maculopathy OMIM:248200
Leber Congenital Amaurosis 19
Optic disc pallor, Retinal degeneration, Attenuation of retinal blood vessels OMIM:618513
Cognitive Impairment With Or Without Cerebellar Ataxia
Cerebellar atrophy, Ataxia, Optic nerve hypoplasia, Dysmetria, Gait ataxia OMIM:614306
Macular Dystrophy, Retinal, 1, North Carolina Type
Drusen, Macular dystrophy, Abnormality of macular pigmentation, Peripheral retinal atrophy OMIM:136550
Macular Dystrophy, Retinal, 2
Macular dystrophy, Perifoveal ring of hyperautofluorescence, Granular macular appearance, Retinal... OMIM:608051
Spinocerebellar Ataxia 40
Broad-based gait, Ataxia, Tremor, Unsteady gait, Dysmetria, Gait ataxia, Ankle clonus, Dysdiadoch... OMIM:616053
Retinitis Pigmentosa 36
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro... OMIM:610599
Spastic Paraplegia 15, Autosomal Recessive
Lower limb spasticity, Peripheral axonal neuropathy, Ataxia, Clonus, Abnormal cerebellum morpholo... OMIM:270700
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Cerebellar atrophy, Short stature, Optic nerve hypoplasia, Abnormal pyramidal sign, Seizure, Liss... OMIM:614833
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome
Impaired distal proprioception, Tremor, Impaired vibration sensation in the lower limbs, Hyperton... ORPHA:137898
Hypotrichosis Simplex Of The Scalp
Abnormal eyebrow morphology, Sparse scalp hair, Absent facial hair, Abnormality of the pubic hair... ORPHA:90368
Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type
Cerebellar atrophy, Optic disc pallor, Ataxia, Inability to walk, Unsteady gait, Abnormality of p... ORPHA:1947
Infantile Neuronal Ceroid Lipofuscinosis
Cerebellar atrophy, Abnormal circulating enzyme concentration or activity, Generalized-onset seiz... ORPHA:79263
Ectodermal Dysplasia 7, Hair/Nail Type
Sparse scalp hair, Alopecia, Brittle hair, Sparse eyelashes, Abnormal sweat gland morphology, Spa... OMIM:614929
Ataxia With Vitamin E Deficiency
Abnormality of retinal pigmentation, Ataxia, Tremor, Hemiplegia/hemiparesis, Abnormal pyramidal s... ORPHA:96
Jaberi-Elahi Syndrome
Appendicular spasticity, Failure to thrive, Brittle hair, Sparse eyelashes, Bilateral tonic-cloni... OMIM:617988
Cardiofaciocutaneous Syndrome 4
Absent eyebrow, Curly hair, Sparse eyelashes, Optic nerve hypoplasia, Short stature, Ventricular ... OMIM:615280
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Cerebellar atrophy, Cerebellar vermis hypoplasia, Bilateral tonic-clonic seizure, Tonic seizure, ... OMIM:618090
Cerebellar Ataxia-Ectodermal Dysplasia Syndrome
Sparse hair, Fine hair ORPHA:1174
Sandhoff Disease, Adult Form
Reduced beta-hexosaminidase activity, Elevated circulating creatine kinase concentration, Tremor,... ORPHA:309169
Lodder-Merla Syndrome, Type 1, With Impaired Intellectual Development And Cardiac Arrhythmia
Seizure, Sick sinus syndrome, Bradycardia, Retinal degeneration OMIM:617173
Leigh Syndrome
Chorea, Choreoathetosis, Abnormal optic nerve morphology, Frontal hirsutism, Alopecia, Ataxia, At... ORPHA:506
Bothnia Retinal Dystrophy
Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Retinitis, Abnormal ... ORPHA:85128
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome
Absent eyebrow, Alopecia, Ventricular septal defect, Short stature, Absent eyelashes, Abnormality... ORPHA:166035
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3
Cerebellar atrophy, Peripheral axonal neuropathy, Ataxia, Elevated circulating creatine kinase co... OMIM:618387
Late-Onset Retinal Degeneration
Sub-RPE deposits, Choroidal neovascularization, Chorioretinal degeneration, Retinopathy, Retinal ... OMIM:605670
Spinocerebellar Ataxia, Autosomal Recessive 16
Cerebellar atrophy, Tremor, Babinski sign, Unsteady gait, Limb ataxia, Ankle clonus, Cerebellar h... OMIM:615768
Focal Facial Dermal Dysplasia 3, Setleis Type
Sparse hair, Distichiasis, Low anterior hairline, Absent lower eyelashes OMIM:227260
Focal Facial Dermal Dysplasia Type I
Absent eyelashes, Low anterior hairline, Sparse hair, Distichiasis, Sparse lateral eyebrow ORPHA:79133
Uncombable Hair Syndrome 1
Uncombable hair, Dry hair, Pili canaliculi OMIM:191480
Sorsby Pseudoinflammatory Fundus Dystrophy
Retinal atrophy, Choroidal neovascularization, Retinal pigment epithelial atrophy, Macular dystro... ORPHA:59181
Optic Nerve Hypoplasia, Bilateral
Optic nerve aplasia, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Morning glo... OMIM:165550
Macular Dystrophy, Vitelliform, 2
Macular dystrophy, Cystoid macular degeneration, Subretinal fluid OMIM:153700
Retinitis Pigmentosa 48
Macular degeneration, Rod-cone dystrophy OMIM:613827
Intellectual Developmental Disorder, X-Linked 104
Ataxia, Tremor, Optic atrophy, Seizure, Frontal upsweep of hair, Spasticity, Cerebral cortical at... OMIM:300983
Ectodermal Dysplasia/Skin Fragility Syndrome
Absent eyebrow, Absent eyelashes, Nail dystrophy, Sparse hair, Alopecia of scalp, Dystrophic fing... OMIM:604536
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures
Cerebellar atrophy, Diffuse cerebral atrophy, Multifocal seizures, Ataxia, Tremor, Optic atrophy,... OMIM:617710
Spinocerebellar Ataxia Type 1
Cerebellar atrophy, Abnormal flash visual evoked potentials, Dystonia, Postural tremor, Loss of P... ORPHA:98755
Behr Syndrome
Cerebellar atrophy, Ataxia, Tremor, Babinski sign, Optic atrophy, Unsteady gait, Dysmetria, Hypop... OMIM:210000
Stxbp1-Related Encephalopathy
Epileptic spasm, Ataxia, Bilateral tonic-clonic seizure with focal onset, Infantile spasms, Tremo... ORPHA:599373
Bardet-Biedl Syndrome 16
Rod-cone dystrophy, Short stature, Obesity, Retinal degeneration OMIM:615993
Bardet-Biedl Syndrome 2
Bicuspid aortic valve, Dilated cardiomyopathy, Obesity, Atrial septal defect, Rod-cone dystrophy,... OMIM:615981
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome
Alopecia, Fingernail dysplasia, Sparse hair, Onychogryposis of fingernail, Ridged fingernail ORPHA:2251
Ichthyosis, Congenital, Autosomal Recessive 11
Curly hair, Brittle hair, Sparse eyelashes, Curly eyelashes, Sparse eyebrow, Sparse body hair, Sp... OMIM:602400
Spinocerebellar Ataxia, Autosomal Recessive 13
Cerebellar atrophy, Dilated fourth ventricle, Ataxia, Short stature, Tremor, Inability to walk, A... OMIM:614831
D-Glyceric Aciduria
Bilateral tonic-clonic seizure, Optic nerve hypoplasia, Patent ductus arteriosus, Reduced hepatic... OMIM:220120
Rothmund-Thomson Syndrome, Type 1
Absent eyebrow, Thin nail, Absent eyelashes, Nail dystrophy, Sparse hair OMIM:618625
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Cerebellar atrophy, Ataxia, Cardiomegaly, Dysesthesia, Congestive heart failure, Babinski sign, O... OMIM:619259
Atypical Pantothenate Kinase-Associated Neurodegeneration
Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Optic atrophy, Focal dystonia, C... ORPHA:216873
Spinocerebellar Ataxia Type 12
Cerebellar atrophy, Ataxia, Parkinsonism, Postural tremor, Action tremor, Abnormal cerebellum mor... ORPHA:98762
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Cerebellar vermis hypoplasia, Retinal dystrophy, Facial palsy, Elevated circulating creatine kina... OMIM:613155
Spondylometaphyseal Dysplasia, Axial
Cone/cone-rod dystrophy, Short stature, Rhizomelia, Splenomegaly, Optic atrophy, Disproportionate... OMIM:602271
Macular Degeneration, Early-Onset
Macular degeneration, Choroidal neovascularization OMIM:616118
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Microphthalmia, Retinal degeneration OMIM:251700
Hawkinsinuria
Sparse hair, Fine hair ORPHA:2118
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Elevated hepatic transaminase, Hepatomegaly, Small for gestational age, Ventricular septal defect... OMIM:301056
Combined Oxidative Phosphorylation Deficiency 45
Ataxia, Cardiac arrest, Tremor, Seizure, Failure to thrive OMIM:618951
Spinocerebellar Ataxia 18
Cerebellar atrophy, Tremor, Babinski sign, Dysmetria, Dysdiadochokinesis, Progressive gait ataxia... OMIM:607458
Spinocerebellar Ataxia 23
Cerebellar atrophy, Impaired distal proprioception, Tremor, Babinski sign, Impaired vibration sen... OMIM:610245
Stargardt Disease 4
Macular degeneration, Retinal flecks OMIM:603786
Lissencephaly Due To Tuba1A Mutation
Dilated fourth ventricle, Cerebellar vermis hypoplasia, Aganglionic megacolon, Optic nerve hypopl... ORPHA:171680
Macular Dystrophy, Retinal, 3
Macular drusen, Retinal pigment epithelial atrophy OMIM:608850
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome
Cerebellar atrophy, Bilateral tonic-clonic seizure, Tremor, Optic atrophy, Dysmetria, Gait ataxia... ORPHA:529665
Adams-Oliver Syndrome 2
Alopecia, Low anterior hairline, Optic atrophy, Cerebral atrophy, Retrocerebellar cyst, Seizure, ... OMIM:614219
Neurodegeneration With Brain Iron Accumulation 2A
Cerebellar atrophy, Ataxia, Decreased nerve conduction velocity, Unsteady gait, Optic atrophy, Ab... OMIM:256600
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... OMIM:609260
Developmental And Epileptic Encephalopathy 28
Rigidity, Optic atrophy, Simplified gyral pattern, Cerebral atrophy, Seizure, Status epilepticus,... OMIM:616211
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Cerebellar atrophy, Dystonia, Ataxia, Short stature, Postural tremor, Tremor, Babinski sign, Opti... OMIM:607694
4H Leukodystrophy
Cerebellar atrophy, Dystonia, Ataxia, Short stature, Tremor, Optic atrophy, Dysmetria, Seizure, P... ORPHA:289494
Tatton-Brown-Rahman Syndrome
Tricuspid regurgitation, Ventricular septal defect, Optic nerve hypoplasia, Chiari type I malform... OMIM:615879
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Abnormal lower motor neuron morphology, Abnormal circulating enzyme concentration or activity, Wa... ORPHA:2590
Pseudopelade Of Brocq
Sparse scalp hair, Alopecia, Abnormal hair morphology, Abnormality of the nail, Aplasia/Hypoplasi... ORPHA:129
Mitochondrial Complex I Deficiency, Nuclear Type 33
Small for gestational age, Optic atrophy, Simplified gyral pattern, Loss of ambulation, Seizure, ... OMIM:618253
Systemic Lupus Erythematosus 17
Alopecia, Raynaud phenomenon, Chorea, Mitral regurgitation, Optic neuritis, Hypertensive crisis OMIM:301080
Spinocerebellar Ataxia, Autosomal Recessive 2
Dilated fourth ventricle, Incoordination, Ataxia, Short stature, Tremor, Unsteady gait, Dysmetria... OMIM:213200
Intellectual Developmental Disorder, Autosomal Dominant 70
Retinal detachment, Optic nerve hypoplasia, Highly arched eyebrow, Retinal telangiectasia, Hypopl... OMIM:620157
X-Linked Intellectual Disability, Hedera Type
Cerebellar atrophy, Extrapyramidal muscular rigidity, Bilateral tonic-clonic seizure, Inability t... ORPHA:93952
Hypertrichosis, Congenital Anterior Cervical, With Peripheral Sensory And Motor Neuropathy
Anterior cervical hypertrichosis OMIM:239840
Retinitis Pigmentosa 31
Rod-cone dystrophy, Retinal pigment epithelial atrophy, Attenuation of retinal blood vessels OMIM:609923
Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, And Sensorineural Hearing Loss
Wolff-Parkinson-White syndrome, Peripheral axonal neuropathy, Incoordination, Ataxia, Dystonia, O... OMIM:601338
Spinocerebellar Ataxia 48
Cerebellar atrophy, Ataxia, Bilateral tonic-clonic seizure, Cachexia, Parkinsonism, Tremor, Chore... OMIM:618093
Spinocerebellar Ataxia, Autosomal Recessive 31
Ataxia, Tremor, Optic atrophy, Cerebral atrophy, Choreoathetosis, Seizure, Growth delay, Cerebell... OMIM:619422
Hsd10 Disease
Ataxia, Postnatal growth retardation, Tremor, Rigidity, Optic atrophy, Choreoathetosis, Frontotem... ORPHA:391417
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits
Ataxia, Inability to walk, Oculomotor apraxia, Hirsutism, Dysmetria, Seizure, Cerebellar hypoplas... OMIM:618087
Pili Torti-Onychodysplasia Syndrome
Absent eyebrow, Alopecia, Brittle hair, Absent eyelashes, Nail dystrophy, Trichodysplasia, Congen... ORPHA:2890
Infantile Neuroaxonal Dystrophy
Cerebellar atrophy, Peripheral axonal neuropathy, Ataxia, Spastic tetraparesis, Cerebellar gliosi... ORPHA:35069
3-Methylglutaconic Aciduria, Type V
Prolonged QT interval, Noncompaction cardiomyopathy, Ataxia, Elevated circulating aspartate amino... OMIM:610198
Macular Degeneration, Atrophic, X-Linked
Macular degeneration OMIM:300834
Peroxisome Biogenesis Disorder 5B
Cerebellar atrophy, Ataxia, Retinal dystrophy, Tremor, Unsteady gait, Dysmetria, Decreased liver ... OMIM:614867
Macular Degeneration, Age-Related, 11
Macular degeneration OMIM:611953
Macular Degeneration, Age-Related, 4
Macular degeneration OMIM:610698
Macular Degeneration, Age-Related, 7
Macular degeneration OMIM:610149
Macular Degeneration, Age-Related, 2
Macular degeneration OMIM:153800
Macular Degeneration, Age-Related, 6
Macular degeneration OMIM:613757
Macular Degeneration, Age-Related, 15
Macular degeneration OMIM:615591
Retinal Cone Dystrophy 1
Cone/cone-rod dystrophy, Bull's eye maculopathy, Retinal degeneration OMIM:180020
Spinocerebellar Ataxia Type 14
Somatic sensory dysfunction, Tremor, Rigidity, Limb ataxia, Gait ataxia, Progressive cerebellar a... ORPHA:98763
Retinitis Pigmentosa 32
Optic disc pallor, Bone spicule pigmentation of the retina, Pigmentary retinopathy, Photoreceptor... OMIM:609913
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Broad-based gait, Spastic tetraparesis, Tremor, Optic atrophy, Simplified gyral pattern, Seizure,... OMIM:619470
Björnstad Syndrome
Alopecia, Brittle hair ORPHA:123
Riboflavin Transporter Deficiency
Optic disc pallor, Ataxia, Facial palsy, Cachexia, Tremor, Hypertension, Seizure, Abnormality of ... ORPHA:97229
Friedreich Ataxia
Impaired vibratory sensation, Abnormal EKG, Ataxia, Congestive heart failure, Babinski sign, Impa... OMIM:229300
Trichothiodystrophy
Ridged nail, Brittle hair, Generalized-onset seizure, Abnormal pyramidal sign, Gait ataxia, Macul... ORPHA:33364
Woolly Hair, Autosomal Dominant
Abnormal eyebrow morphology, Dry hair, Slow-growing hair, Abnormal eyelash morphology, Coarse hai... OMIM:194300
Retinitis Pigmentosa Inversa With Deafness
Rod-cone dystrophy, Retinitis pigmentosa inversa OMIM:268010
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Hepatomegaly, Cerebellar vermis hypoplasia, Ventricular septal defect, Short stature, Splenomegal... OMIM:615630
Peripheral Cone Dystrophy
Cone/cone-rod dystrophy, Optic disc pallor, Optic atrophy, Peripheral retinal degeneration OMIM:609021
Leukodystrophy, Hypomyelinating, 6
Cerebellar atrophy, Ataxia, Short stature, Tremor, Rigidity, Optic atrophy, Choreoathetosis, Seiz... OMIM:612438
Beta-Propeller Protein-Associated Neurodegeneration
Cerebellar atrophy, Dystonia, Parkinsonism, Tremor, Rigidity, Optic atrophy, Cerebral atrophy, Br... ORPHA:329284
Mannosidosis, Alpha B, Lysosomal
Cerebellar atrophy, Hepatomegaly, Corpus callosum atrophy, Splenomegaly, Babinski sign, Low anter... OMIM:248500
Leber Congenital Amaurosis With Early-Onset Deafness
Retinal pigment epithelial mottling, Peripapillary atrophy, Retinal degeneration OMIM:617879
Cardiofaciocutaneous Syndrome 2
Sparse hair, Curly hair, Absent eyebrow, Fine hair OMIM:615278
Syndromic X-Linked Intellectual Disability 7
Sparse body hair ORPHA:85274
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Cerebellar atrophy, Decreased motor nerve conduction velocity, Peripheral axonal degeneration, In... OMIM:302800
Intermediate Generalized Junctional Epidermolysis Bullosa
Scarring alopecia of scalp, Anonychia, Nail dystrophy, Sparse body hair ORPHA:79402
Neurodegeneration With Brain Iron Accumulation 8
Cerebellar atrophy, Ataxia, Tremor, Unsteady gait, Dysmetria, Loss of ambulation OMIM:617917
Charcot-Marie-Tooth Disease Type 1F
Impaired vibratory sensation, Absent brainstem auditory responses, Somatic sensory dysfunction, O... ORPHA:101085
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Cerebellar atrophy, Parkinsonism, Tremor, Babinski sign, Scissor gait, Cerebral atrophy, Ankle cl... ORPHA:521406
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Spastic ataxia, Torticollis, Cerebellar vermis hypoplasia, Optic nerve hypoplasia, Postnatal grow... ORPHA:300570
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Peripheral axonal degeneration, Tremor, Dysmetria, Gait ataxia, Ataxia, Limb fasciculations, Spas... OMIM:615157
Flynn-Aird Syndrome
Alopecia, Ataxia, Cachexia, Impaired pain sensation, Seizure, Rod-cone dystrophy, Cerebral cortic... ORPHA:2047
Coenzyme Q10 Deficiency, Primary, 9
Cerebellar atrophy, Lower limb spasticity, Bilateral tonic-clonic seizure with generalized onset,... OMIM:619028
Spinocerebellar Ataxia, Autosomal Recessive 21
Hepatomegaly, Impaired pain sensation, Tremor, Splenomegaly, Limb ataxia, Gait ataxia, Distal sen... OMIM:616719
Spastic Ataxia 2, Autosomal Recessive
Cerebellar atrophy, Spastic ataxia, Torticollis, Tremor, Head titubation, Babinski sign, Cerebral... OMIM:611302
L-Ferritin Deficiency
Alopecia, Generalized-onset seizure OMIM:615604
Glycosylphosphatidylinositol Biosynthesis Defect 25
Sparse hair, Coarse hair OMIM:619985
5Q14.3 Microdeletion Syndrome
Agenesis of cerebellar vermis, Optic nerve hypoplasia, Seizure, Frontal cortical atrophy, Thick e... ORPHA:228384
Autosomal Recessive Spastic Paraplegia Type 11
Orthostatic hypotension, Peripheral axonal neuropathy, Ataxia, Parkinsonism, Overweight, Atrophy ... ORPHA:2822
Coenzyme Q10 Deficiency, Primary, 4
Cerebellar atrophy, Epilepsia partialis continua, Ataxia, Tremor, Abnormal pyramidal sign, Seizur... OMIM:612016
Intellectual Developmental Disorder, Autosomal Recessive 5
Broad-based gait, Small for gestational age, Elevated circulating creatine kinase concentration, ... OMIM:611091
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia
Tremor, Cardiomyopathy, Myoclonus, Dystonia, Failure to thrive OMIM:619651
Cone-Rod Dystrophy 22
Retinal pigment epithelial atrophy, Bull's eye maculopathy, Hyperautofluorescent macular lesion, ... OMIM:619531
Overgrowth-Macrocephaly-Facial Dysmorphism Syndrome
Speech apraxia, Optic nerve hypoplasia, Abnormal pulmonary valve morphology, Large for gestationa... ORPHA:137634
Cerebral Arteriopathy, Autosomal Recessive, With Subcortical Infarcts And Leukoencephalopathy
Alopecia, Ataxia, Transient ischemic attack, Rigidity, Babinski sign, Abnormal pyramidal sign, Ga... OMIM:600142
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Abnormal mitral valve morphology, Short stature, Tremor, Hypertension, Hypertonia, Gait disturban... ORPHA:1192
Neurodegeneration With Brain Iron Accumulation 7
Cerebellar atrophy, Lower limb spasticity, Ataxia, Tremor, Cerebral atrophy, Dysmetria, Dystonia,... OMIM:617916
Lopes-Maciel-Rodan Syndrome
Cerebellar atrophy, Caudate atrophy, Tremor, Unsteady gait, Abnormal pyramidal sign, Cerebral atr... OMIM:617435
Oculorenocerebellar Syndrome
Choreoathetosis, Spastic diplegia, Retinal degeneration OMIM:257970
Wagner Vitreoretinopathy
Retinal pigment epithelial atrophy, Optically empty vitreous, Optic atrophy, Chorioretinal atroph... OMIM:143200
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Cerebellar atrophy, Peripheral axonal degeneration, Dystonia, Ataxia, Elevated circulating creati... OMIM:208920
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy
Cerebellar atrophy, Peripheral axonal neuropathy, Ataxia, Tremor, Cerebellar gliosis, Babinski si... OMIM:616505
Facial Dysmorphism, Hypertrichosis, Epilepsy, Intellectual/Developmental Delay, And Gingival Overgrowth Syndrome
Bilateral tonic-clonic seizure, Thick hair, Optic nerve hypoplasia, Synophrys, Long eyelashes, Ho... OMIM:618381
Leukoencephalopathy With Calcifications And Cysts
Ataxia, Cerebral hemorrhage, Tremor, Abnormal pyramidal sign, Focal motor seizure, Cerebral atrop... ORPHA:542310
Autosomal Dominant Optic Atrophy Plus Syndrome
Absent brainstem auditory responses, Ataxia, Spastic paraplegia, Optic atrophy, Cardiomyopathy, A... ORPHA:1215
Pseudoprogeria Syndrome
Absent eyebrow, Alopecia, Absent eyelashes, Sparse eyebrow, Sparse hair ORPHA:2985
Pelizaeus-Merzbacher Disease
Broad-based gait, Generalized dystonia, Ataxia, Short stature, Writer's cramp, Tremor, Head titub... OMIM:312080
Proximal Myopathy With Extrapyramidal Signs
Resting tremor, Peripheral axonal neuropathy, Ataxia, Involuntary movements, Chorea, Optic atroph... ORPHA:401768
Severe Neurodegenerative Syndrome With Lipodystrophy
Hepatomegaly, Caudate atrophy, Ataxia, Poor motor coordination, Tremor, Abnormal pyramidal sign, ... ORPHA:363400
Basal Ganglia Calcification, Idiopathic, 1
Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Bradykinesia, Athetosis, Dysdiad... OMIM:213600
Exudative Vitreoretinopathy 7
Retinal detachment, Exudative vitreoretinopathy, Retinal hole, Retinal fold, Retinal degeneration OMIM:617572
Mitochondrial Dna Depletion Syndrome 14 (Cardioencephalomyopathic Type)
Hypertrophic cardiomyopathy, Hypertonia, Retinal degeneration, Opisthotonus OMIM:616896
Posterior-Predominant Lissencephaly-Broad Flat Pons And Medulla-Midline Crossing Defects Syndrome
Optic nerve hypoplasia, Infantile spasms, Involuntary movements, Myoclonic seizure, Aplasia/Hypop... ORPHA:572013
Autosomal Dominant Spastic Ataxia Type 1
Spastic ataxia, Lower limb spasticity, Tremor, Babinski sign, Impaired vibration sensation in the... ORPHA:251282
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hepatomegaly, Ataxia, Tremor, Abnormal pyramidal sign, Cerebral atrophy, Seizure, Myoclonus, Tetr... OMIM:615924
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency
Cerebellar atrophy, Tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia, Seizure, Myoc... ORPHA:139485
Retinitis Pigmentosa 70
Optic disc pallor, Macular degeneration, Rod-cone dystrophy, Retinal degeneration, Attenuation of... OMIM:615922
Cockayne Syndrome
Dry hair, Progressive gait ataxia, Retinal arteriolar constriction, Hypertonia, Retinal degenerat... ORPHA:191
Sporadic Adult-Onset Ataxia Of Unknown Etiology
Resting tremor, Ataxia, Parkinsonism, Akinesia, Rigidity, Babinski sign, Gait ataxia, Abnormal cr... ORPHA:247234
Autosomal Spastic Paraplegia Type 58
Clonus, Tremor, Chorea, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Titubation, Intention tr... ORPHA:397946
Thumb Deformity And Alopecia
Alopecia, Short stature OMIM:188150
Combined Oxidative Phosphorylation Deficiency 54
Impaired vibratory sensation, Optic disc pallor, Tachycardia, Generalized-onset seizure, Tremor, ... OMIM:619737
Oligodontia-Colorectal Cancer Syndrome
Sparse scalp hair, Absent eyebrow, Sparse axillary hair, Short eyelashes, Sparse body hair OMIM:608615
Ataxia-Telangiectasia
Elevated hepatic transaminase, Hypopigmentation of hair, Abnormality of chromosome stability, Tel... ORPHA:100
Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia
Dilated fourth ventricle, Optic disc pallor, Short stature, Optic nerve hypoplasia, Hypoplasia of... OMIM:300749
Craniotelencephalic Dysplasia
Optic nerve hypoplasia, Microphthalmia, Lissencephaly, Cerebellar hypoplasia OMIM:218670
Xeroderma Pigmentosum, Complementation Group G
Small for gestational age, Ataxia, Infantile spasms, Tremor, Defective DNA repair after ultraviol... OMIM:278780
14Q22Q23 Microdeletion Syndrome
Optic nerve aplasia, Anophthalmia, Short stature ORPHA:264200
Chromosome 19P13.13 Deletion Syndrome
Chiari type I malformation, Seizure, Optic atrophy, Optic nerve hypoplasia OMIM:613638
Schöpf-Schulz-Passarge Syndrome
Sparse hair, Alopecia, Aplasia/Hypoplasia of the eyebrow ORPHA:50944
Nephronophthisis 14
Situs inversus totalis, Cerebellar vermis hypoplasia, Retinal degeneration OMIM:614844
Spinocerebellar Ataxia 2
Dysmetria, Impaired vibratory sensation, Ataxia, Parkinsonism, Myoclonus, Fasciculations, Oculomo... OMIM:183090
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Elevated circulating creatine kinase concentration, Type II lissencephaly, Tonic seizure, Seizure... OMIM:615249
Retinopathy, Pericentral Pigmentary, Dominant
Bone spicule pigmentation of the retina, Retinal atrophy, Retinal dystrophy, Pigmentary retinopat... OMIM:180210
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities
Exaggerated startle response, Short stature, Optic nerve hypoplasia, Inability to walk, Chorea, S... OMIM:617864
Parc Syndrome
Absent eyelashes, Absent eyebrow, Alopecia OMIM:600331
Cockayne Syndrome A
Dry hair, Abnormal peripheral myelination, Tremor, Sparse hair, Hepatomegaly, Retinal atrophy, At... OMIM:216400
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies
Cerebellar atrophy, Short stature, Hypertension, Patchy alopecia, Cerebellar hypoplasia, Sparse h... OMIM:617763
Rabin-Pappas Syndrome
Retinal detachment, Failure to thrive in infancy, Optic nerve hypoplasia, Highly arched eyebrow, ... OMIM:620155
Cerebral Visual Impairment
Optic disc pallor, Cerebral palsy, Optic nerve hypoplasia, Optic atrophy, Retinopathy of prematur... ORPHA:447788
Best Vitelliform Macular Dystrophy
Choroideremia, Cystoid macular degeneration ORPHA:1243
Late-Infantile/Juvenile Krabbe Disease
Tremor, Loss of ambulation, Ataxia, Clumsiness, Impaired tactile sensation, Seizure, Gait disturb... ORPHA:206443
Pantothenate Kinase-Associated Neurodegeneration
Bull's eye maculopathy, Choreoathetosis, Limb dystonia, Loss of ambulation, Retinal degeneration,... ORPHA:157850
Lower Motor Neuron Syndrome With Late-Adult Onset
Elevated circulating creatine kinase concentration, Tremor, Inability to walk, Impaired distal vi... ORPHA:276435
Dermoodontodysplasia
Sparse scalp hair, Fingernail dysplasia, Trichodysplasia, Toenail dysplasia, Sparse body hair ORPHA:1660
Bullous Dystrophy, Hereditary Macular Type
Severe short stature, Alopecia totalis, Abnormality of the nail OMIM:302000
Gm1 Gangliosidosis
Tremor, Decreased beta-galactosidase activity, Decerebrate rigidity, Cherry red spot of the macul... ORPHA:354
Neurodevelopmental Disorder And Structural Brain Anomalies With Or Without Seizures And Spasticity
Optic nerve hypoplasia, Infantile spasms, Tonic seizure, Focal motor seizure, Myoclonic seizure, ... OMIM:618890
Asparagine Synthetase Deficiency
Dilated fourth ventricle, Caudate atrophy, Cerebellar vermis hypoplasia, Exaggerated startle resp... OMIM:615574
Mitochondrial Dna Depletion Syndrome 20 (Mngie Type)
Cerebellar atrophy, Involuntary movements, Abnormal pyramidal sign, Dysmetria, Macular degenerati... OMIM:619780
2P15P16.1 Microdeletion Syndrome
Aortic regurgitation, Lower limb spasticity, Facial palsy, Supernumerary nipple, Optic nerve hypo... ORPHA:261349
Retinitis Pigmentosa 73
Macular crystals, Optic disc pallor, Bone spicule pigmentation of the retina, Retinal atrophy, Ge... OMIM:616544
Developmental Delay And Seizures With Or Without Movement Abnormalities
Ataxia, Bilateral tonic-clonic seizure, Short stature, Tremor, Rigidity, Chiari type I malformati... OMIM:617836
Coenzyme Q10 Deficiency, Primary, 1
Cerebellar atrophy, Diffuse cerebral atrophy, Ataxia, Elevated circulating creatine kinase concen... OMIM:607426
Combined Oxidative Phosphorylation Deficiency 10
Small for gestational age, Cardiomegaly, Pericardial effusion, Optic atrophy, Spasticity, Seizure... OMIM:614702
Cardiomyopathy, Dilated, 1I
Reduced systolic function, Elevated circulating creatine kinase concentration, Cardiomegaly, Cong... OMIM:604765
Microcephaly, Developmental Delay, And Brittle Hair Syndrome
Cerebellar atrophy, Atrial septal defect, Broad-based gait, Brittle hair, Small for gestational a... OMIM:618891
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism
Cerebellar atrophy, Elevated hepatic transaminase, Short stature, Cerebral atrophy, Pigmentary re... OMIM:268020
Cockayne Syndrome Type 3
Dry hair, Mild postnatal growth retardation, Premature graying of hair, Retinal degeneration, Int... ORPHA:90324
Bardet-Biedl Syndrome 4
Rod-cone dystrophy, Obesity, Retinal degeneration OMIM:615982
Alpha-Methylacyl-Coa Racemase Deficiency
Ataxia, Tremor, Focal-onset seizure, Hemiparesis, Pigmentary retinopathy, Seizure, Status epilept... OMIM:614307
Neuronal Intranuclear Inclusion Disease
Decreased motor nerve conduction velocity, Somatic sensory dysfunction, Ataxia, Tremor, Rigidity,... OMIM:603472
Gomez-Lopez-Hernandez Syndrome
Fusion of the cerebellar hemispheres, Alopecia, Agenesis of cerebellar vermis, Cerebellar vermis ... OMIM:601853
Spinocerebellar Ataxia Type 7
Cerebellar atrophy, Cone/cone-rod dystrophy, Somatic sensory dysfunction, Ataxia, Congestive hear... ORPHA:94147
Micro Syndrome
Abnormality of retinal pigmentation, Cerebellar vermis hypoplasia, Short stature, Abnormal cerebe... ORPHA:2510
Candidiasis, Familial, 1
Alopecia OMIM:114580
Autosomal Dominant Hypohidrotic Ectodermal Dysplasia
Sparse hair, Abnormal fingernail morphology, Sparse body hair ORPHA:1810
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset
Cerebellar atrophy, Ataxia, Tremor, Abnormal pyramidal sign, Limb ataxia, Dysmetria, Gait ataxia,... OMIM:617145
Spinocerebellar Ataxia With Epilepsy
Acute hepatic failure, Bilateral tonic-clonic seizure with focal onset, Tremor, Optic atrophy, Dy... ORPHA:254881
Scheie Syndrome
Aortic regurgitation, Aortic valve stenosis, Retinal degeneration OMIM:607016
Congenital Short Bowel Syndrome
Sparse hair ORPHA:2301
Short Stature, Microcephaly, And Endocrine Dysfunction
Broad-based gait, Ataxia, Short stature, Dilated cardiomyopathy, Simplified gyral pattern, Dysmet... OMIM:616541
Morm Syndrome
Truncal obesity, Retinal atrophy, Retinal dystrophy ORPHA:75858
Macular Degeneration, Age-Related, 3
Peripheral axonal neuropathy, Choroidal neovascularization, Decreased nerve conduction velocity, ... OMIM:608895
White-Sutton Syndrome
Waddling gait, Atrial septal defect, Short stature, Optic nerve hypoplasia, Rod-cone dystrophy, P... OMIM:616364
Biotinidase Deficiency
Hepatomegaly, Alopecia, Diffuse cerebral atrophy, Ataxia, Splenomegaly, Optic atrophy, Seizure, D... OMIM:253260
Bardet-Biedl Syndrome 21
Elevated hepatic transaminase, Cone/cone-rod dystrophy, Hypoplasia of the fovea, Retinal atrophy,... OMIM:617406
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Ventricular escape rhythm, Poor fine motor coordination, Seizure, Sick sinus syndrome, Bradycardi... ORPHA:542306
Pyruvate Dehydrogenase E2 Deficiency
Speech apraxia, Abnormal circulating enzyme concentration or activity, Paroxysmal dystonia, Broad... ORPHA:79244
Multiple Sulfatase Deficiency
Cerebellar atrophy, Hepatomegaly, Ataxia, Short stature, Splenomegaly, Cerebral atrophy, Spastici... OMIM:272200
Rhizomelic Chondrodysplasia Punctata, Type 1
Alopecia, Severe short stature, Rhizomelia, Seizure, Severe failure to thrive, Spasticity, Cerebr... OMIM:215100
Achromatopsia
Hypoplasia of the fovea, Retinal pigment epithelial atrophy, Retinal pigment epithelial mottling,... ORPHA:49382
Dyskinesia With Orofacial Involvement, Autosomal Recessive
Tremor, Cardiomyopathy, Myoclonus, Dystonia, Frequent falls OMIM:619647
Usher Syndrome, Type Iv
Hyperautofluorescent macular lesion, Bone spicule pigmentation of the retina, Retinal atrophy, Re... OMIM:618144
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Microphthalmia, Cystoid macular degeneration, Macular atrophy, Retinal degeneration OMIM:267760
Kerion Celsi
Alopecia ORPHA:499
Autosomal Recessive Cerebelloparenchymal Disorder Type 3
Cerebellar atrophy, Dilated fourth ventricle, Diffuse cerebral atrophy, Ataxia, Short stature, Po... ORPHA:1170
Cone-Rod Dystrophy 11
Cone/cone-rod dystrophy, Macular degeneration, Bull's eye maculopathy, Macular atrophy OMIM:610381
Pelizaeus-Merzbacher Disease
Ataxia, Failure to thrive in infancy, Cachexia, Short stature, Optic atrophy, Choreoathetosis, Se... ORPHA:702
Spinocerebellar Ataxia 42
Cerebellar atrophy, Spastic ataxia, Ataxia, Tremor, Loss of Purkinje cells in the cerebellar verm... OMIM:616795
X-Linked Hypohidrotic Ectodermal Dysplasia
Sparse hair, Sparse body hair, Aplasia/Hypoplasia of the eyebrow ORPHA:181
Bjornstad Syndrome
Alopecia, Brittle hair, Dry hair, Coarse hair, Hair shafts flattened at irregular intervals and t... OMIM:262000
Bardet-Biedl Syndrome 1
Bone spicule pigmentation of the retina, Ataxia, Retinal dystrophy, Aganglionic megacolon, Hypera... OMIM:209900
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
Chiari type I malformation, Coarse hair, Atrial septal defect, Sparse hair, Patent foramen ovale,... OMIM:617506
Epilepsy, Progressive Myoclonic, 6
Ataxia, Elevated circulating creatine kinase concentration, Bilateral tonic-clonic seizure, Tremo... OMIM:614018
Fg Syndrome Type 1
Broad-based gait, Short stature, Optic nerve hypoplasia, Abnormal cerebellum morphology, Mitral v... ORPHA:93932
Sjögren-Larsson Syndrome
Abnormality of retinal pigmentation, Short stature, Abnormal pyramidal sign, Spastic diplegia, Ma... ORPHA:816
Wars2-Related Combined Oxidative Phosphorylation Defect
Cerebellar atrophy, Dilated fourth ventricle, Abnormal circulating enzyme concentration or activi... ORPHA:572798
Autosomal Recessive Cutis Laxa Type 2, Classic Type
Short stature, Thick hair, Subretinal pigment epithelium hemorrhage, Pachygyria, Postnatal growth... ORPHA:357074
Central Areolar Choroidal Dystrophy
Macular atrophy, Foveal photoreceptor outer segment loss on macular OCT, Drusen, Retinal pigment ... ORPHA:75377
Joubert Syndrome 6
Dilated fourth ventricle, Cerebellar vermis hypoplasia, Ataxia, Chorioretinal coloboma, Oculomoto... OMIM:610688
Ophthalmoplegia, External, And Myopia
Retinal degeneration, Chorioretinal degeneration OMIM:311000
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome
Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Scarring alopecia of scalp, Sparse body hair ORPHA:59303
Mucopolysaccharidosis Type 3
Cardiomegaly, Synophrys, Abnormal pyramidal sign, Atrioventricular block, Coarse hair, Hypertonia... ORPHA:581
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Pulmonary embolism, Intrauterine growth retardation, Retinal degeneration, Ataxia, Dilated cardio... ORPHA:79282
Cockayne Syndrome B
Dry hair, Abnormal peripheral myelination, Tremor, Hypoplasia of the iris, Sparse hair, Hepatomeg... OMIM:133540
Nabais Sa-De Vries Syndrome, Type 1
Optic nerve hypoplasia, Highly arched eyebrow, Synophrys, Low anterior hairline, Simplified gyral... OMIM:618828
Cerebroretinal Microangiopathy With Calcifications And Cysts 1
Retinal telangiectasia, Tremor, Abnormal pyramidal sign, Premature graying of hair, Intestinal bl... OMIM:612199
Generalized Epilepsy With Febrile Seizures-Plus
Generalized-onset seizure, Ataxia, Bilateral tonic-clonic seizure, Incoordination, Tremor, Focal-... ORPHA:36387
Retinitis Pigmentosa 4
Bone spicule pigmentation of the retina, Retinal atrophy, Pigmentary retinopathy, Rod-cone dystro... OMIM:613731
Fanconi Anemia, Complementation Group I
Ventricular septal defect, Optic nerve hypoplasia, Short stature, Microphthalmia, Chiari malforma... OMIM:609053
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Bilateral tonic-clonic seizure, Short stature, Myocardial infarction, Overweight, Tremor, Seizure... ORPHA:457240
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Cerebellar atrophy, Ataxia, Short stature, Tremor, Optic atrophy, Abnormal pyramidal sign, Dysmet... OMIM:614381
Congenital Toxoplasmosis
Elevated hepatic transaminase, Abnormality of retinal pigmentation, Hepatomegaly, Failure to thri... ORPHA:858
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome
Broad-based gait, Small for gestational age, Proportionate short stature, Synophrys, Low anterior... ORPHA:391408
Keutel Syndrome
Alopecia, Ventricular septal defect, Short stature, Optic atrophy, Seizure, Pulmonary arterial hy... ORPHA:85202
Squalene Synthase Deficiency
Bicuspid aortic valve, Optic nerve hypoplasia, Failure to thrive in infancy, Abnormality of hair ... OMIM:618156
Spinocerebellar Ataxia Type 27
Cerebellar atrophy, Akinesia, Tremor, Limb ataxia, Gait ataxia, Hand tremor, Gait disturbance, Di... ORPHA:98764
Mitochondrial Dna-Associated Leigh Syndrome
Chorea, Gait ataxia, Hypertonia, Hepatomegaly, Ataxia, Dilated cardiomyopathy, Seizure, Rod-cone ... ORPHA:255210
Heyn-Sproul-Jackson Syndrome
Sparse hair OMIM:618724
Fibrodysplasia Ossificans Progressiva
Seizure, Alopecia, Failure to thrive ORPHA:337
Retinitis Pigmentosa 33
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R... OMIM:610359
Mohr-Tranebjaerg Syndrome
Absent brainstem auditory responses, Caudate atrophy, Generalized dystonia, Dystonia, Tremor, Ina... ORPHA:52368
Microphthalmia, Isolated 5
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, F... OMIM:611040
Sjogren-Larsson Syndrome
Macular crystals, Retinal pigment epithelial atrophy, Retinal thinning, Short stature, Macular de... OMIM:270200
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy
Generalized-onset seizure, Facial palsy, Elevated circulating creatine kinase concentration, Trem... OMIM:159950
Leukodystrophy, Hypomyelinating, 11
Cerebellar atrophy, Ataxia, Tremor, Myoclonus, Spasticity, Failure to thrive OMIM:616494
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
Absence seizure with eyelid myoclonia, Bilateral tonic-clonic seizure, Tremor, Generalized myoclo... OMIM:618587
Stargardt Disease
Retinal pigment epithelial atrophy, Retinal thinning, Abnormal foveal morphology, Retinal pigment... ORPHA:827
Tricho-Retino-Dento-Digital Syndrome
Uncombable hair, Sparse hair ORPHA:1264
Shukla-Vernon Syndrome
Cerebellar atrophy, Seizure, Broad-based gait, Sparse hair OMIM:301029
Severe Combined Immunodeficiency Due To Foxn1 Deficiency
Ridged nail, Nail pits, Congenital alopecia totalis ORPHA:169095
Retinitis Pigmentosa 11
Optic disc pallor, Bone spicule pigmentation of the retina, Macular atrophy, Macular edema, Macul... OMIM:600138
Neurodegeneration With Brain Iron Accumulation 4
Cerebellar atrophy, Abnormal lower motor neuron morphology, Generalized dystonia, Ataxia, Elevate... OMIM:614298
Infantile Krabbe Disease
Abnormal circulating enzyme concentration or activity, Diffuse cerebral atrophy, Prolonged brains... ORPHA:206436
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Retinal detachment, Subcortical heterotopia, Remnants of the hyaloid vascular system, Optic nerve... OMIM:614643
Uruguay Faciocardiomusculoskeletal Syndrome
Elevated hepatic transaminase, Ventricular hypertrophy, Waddling gait, Elevated circulating aspar... OMIM:300280
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2
Small for gestational age, Short stature, Kinetic tremor, Fine hair, Gait ataxia, Seizure, Growth... OMIM:616817
Giant Cell Arteritis
Pericarditis, Alopecia, Ataxia, Epistaxis, Sudden cardiac death, Vasculitis, Optic atrophy, Weigh... ORPHA:397
Polymicrogyria With Optic Nerve Hypoplasia
Bilateral tonic-clonic seizure, Optic nerve hypoplasia, Infantile spasms, Seizure, Polymicrogyria ORPHA:250972
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Brittle hair, Sparse eyelashes, Abnormality of hair texture, Sparse eyebrow, Progressive hypotric... OMIM:225060
Amyloidosis, Hereditary, Transthyretin-Related
Peripheral axonal neuropathy, Ataxia, Cardiomegaly, Tremor, Amyloid deposition in the vitreous hu... OMIM:105210
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis
Hypoplasia of the pons, Low anterior hairline, Optic nerve hypoplasia, Dandy-Walker malformation OMIM:618736
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome
Optic disc pallor, Somatic sensory dysfunction, Short stature, Thick hair, Tremor, Dysmetria, Gro... ORPHA:502423
Eem Syndrome
Sparse scalp hair, Absent eyebrow, Sparse body hair ORPHA:1897
Infantile Sialic Acid Storage Disease
Hepatomegaly, Failure to thrive, Cardiomegaly, Congestive heart failure, Splenomegaly, Cerebral a... OMIM:269920
Familial Drusen
Abnormality of retinal pigmentation, Macular drusen, Peripapillary chorioretinal atrophy, Choroid... ORPHA:75376
Retinal Dystrophy And Obesity
Retinal detachment, Retinal pigment epithelial atrophy, Retinal dystrophy, Obesity, Retinal dots,... OMIM:616188
Verheij Syndrome
Ventricular septal defect, Small for gestational age, Optic nerve hypoplasia, Short stature, Cere... OMIM:615583
Peho Syndrome
Cerebellar atrophy, Optic atrophy, Undetectable visual evoked potentials, Seizure, Neuronal loss ... OMIM:260565
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Optic disc pallor, Cerebellar vermis hypoplasia, Abnormal auditory evoked potentials, Hypoplasia ... OMIM:617523
Localized Junctional Epidermolysis Bullosa
Sparse axillary hair, Sparse pubic hair, Scarring alopecia of scalp, Atrophic, patchy alopecia, N... ORPHA:251393
Incontinentia Pigmenti
Abnormal toenail morphology, Abnormality of the nail, Alopecia, Abnormal fingernail morphology, A... ORPHA:464
Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome
Congenital alopecia totalis, Tetraplegia/tetraparesis, Sparse eyebrow, Rigidity, Unsteady gait, P... ORPHA:2269
Nicolaides-Baraitser Syndrome
Alopecia, Epileptic spasm, Severe short stature, Curly eyelashes, Abnormal hair pattern, Highly a... ORPHA:3051
Epilepsy, Progressive Myoclonic, 1B
Ataxia, Tremor, Babinski sign, Dysmetria, Myoclonus, Generalized myoclonic seizure, Atonic seizur... OMIM:612437
Combined Oxidative Phosphorylation Deficiency 32
Cerebellar atrophy, Tremor, Inability to walk, Optic atrophy, Choreoathetosis, Seizure, Dystonia,... OMIM:617664
Intellectual Developmental Disorder, X-Linked 12
Increased body mass index, Cerebellar vermis hypoplasia, Small for gestational age, Short stature... OMIM:300957
Cone-Rod Dystrophy 5
Cone/cone-rod dystrophy, Retinal pigment epithelial mottling, Macular degeneration OMIM:600977
Retinitis Pigmentosa 68
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Retinal atrophy OMIM:615725
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Hypoplasia of the pons, Abnormal pyramidal sign, Simplified gyral pattern, Hypertonia, Pachygyria... ORPHA:468631
Cone-Rod Dystrophy 24
Cone/cone-rod dystrophy, Macular drusen, Macular atrophy, Pigmentary retinopathy, Macular degener... OMIM:620342
Spinocerebellar Ataxia, Autosomal Recessive 30
Cerebellar atrophy, Ataxia, Elevated circulating creatine kinase concentration, Tremor, Unsteady ... OMIM:619405
Hypermanganesemia With Dystonia 2
Cerebellar atrophy, Generalized dystonia, Dystonia, Elevated circulating creatine kinase concentr... OMIM:617013
Krabbe Disease
Abnormal flash visual evoked potentials, Diffuse cerebral atrophy, Decreased nerve conduction vel... OMIM:245200
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Retinal detachment, Retinal atrophy, Agyria, Optic nerve hypoplasia, Type II lissencephaly, Eleva... OMIM:236670
Cerebellar Atrophy, Visual Impairment, And Psychomotor Retardation
Cerebellar atrophy, Corpus callosum atrophy, Low anterior hairline, Optic atrophy, Cerebral atrop... OMIM:616875
Neurodevelopmental Disorder With Spasticity, Seizures, And Brain Abnormalities
Appendicular spasticity, Cerebellar vermis hypoplasia, Cerebral palsy, Simplified gyral pattern, ... OMIM:620001
Alopecia-Intellectual Disability Syndrome
Sparse scalp hair, Alopecia, Sparse body hair, Aplasia/Hypoplasia of the eyebrow ORPHA:2850
Hydrocephalus-Obesity-Hypogonadism Syndrome
Sparse facial hair, Absent facial hair, Low posterior hairline ORPHA:2183
Bazex-Dupre-Christol Syndrome
Coarse hair, Sparse hair, Trichoepithelioma, Pili torti, Trichorrhexis nodosa OMIM:301845
Chromosome 18Q Deletion Syndrome
Broad-based gait, Failure to thrive in infancy, Absence of the pulmonary valve, Ventricular septa... OMIM:601808
Neuraminidase Deficiency
Hepatomegaly, Short stature, Cardiomegaly, Splenomegaly, Slurred speech, Dysmetria, Cardiomyopath... OMIM:256550
Xq27.3Q28 Duplication Syndrome
Sparse body hair ORPHA:261483
Oculocerebrocutaneous Syndrome
Alopecia, Anophthalmia, Gray matter heterotopia, Seizure, Microphthalmia, Dandy-Walker malformation OMIM:164180
Tay-Sachs Disease
Tremor, Dysmetria, Decerebrate rigidity, Progressive spasticity, Cherry red spot of the macula, L... ORPHA:845
Menkes Disease
Alopecia, Brittle hair, Epileptic spasm, Short stature, Babinski sign, Intracranial hemorrhage, S... OMIM:309400
Corpus Callosum, Agenesis Of, With Facial Anomalies And Cerebellar Ataxia
Thick eyebrow, Cerebellar vermis hypoplasia, Ataxia, Low anterior hairline, Long eyelashes, Cereb... OMIM:616819
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome
Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Retinal dystrophy, S... OMIM:616108
Incontinentia Pigmenti
Ridged nail, Coarse hair, Sparse hair, Atrophic, patchy alopecia, Hypoplasia of the fovea, Alopec... OMIM:308300
Aceruloplasminemia
Torticollis, Ataxia, Chorea, Cogwheel rigidity, Blepharospasm, Abnormality of extrapyramidal moto... OMIM:604290
Spastic Paraplegia 6, Autosomal Dominant
Lower limb spasticity, Clonus, Degeneration of the lateral corticospinal tracts, Tremor, Spastic ... OMIM:600363
Neurooculocardiogenitourinary Syndrome
Tricuspid regurgitation, Ventricular septal defect, Cardiomegaly, Abnormal cerebellum morphology,... OMIM:618652
Retinitis Pigmentosa 81
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, A... OMIM:617871
Adrenoleukodystrophy
Alopecia, Incoordination, Paraparesis, Spastic paraplegia, Slurred speech, Limb ataxia, Seizure, ... OMIM:300100
Craniotelencephalic Dysplasia
Septo-optic dysplasia, Optic atrophy, Lissencephaly, Cerebellar hypoplasia, Microphthalmia ORPHA:1528
Dyskeratosis Congenita, Autosomal Recessive 6
Alopecia, Ataxia, Nail dystrophy, Cerebellar hypoplasia, Sparse hair, Intrauterine growth retarda... OMIM:616353
Neurodevelopmental Disorder With Hypotonia, Language Delay, And Skeletal Defects With Or Without Seizures
Prolonged QT interval, Sparse scalp hair, Lower limb spasticity, Optic nerve hypoplasia, Tonic se... OMIM:620029
Dyskeratosis Congenita, Autosomal Dominant 3
Alopecia, Ataxia, Short stature, Fine hair, Premature graying of hair, Exudative retinopathy, Gro... OMIM:613990
Cerebrotendinous Xanthomatosis
Axonal degeneration, Abnormal pyramidal sign, Abnormal cerebellar peduncle morphology, Ataxia, Pa... ORPHA:909
Adult-Onset Autosomal Dominant Leukodystrophy
Clonus, Tremor, Impaired proprioception, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Hyperto... ORPHA:99027
Bietti Crystalline Dystrophy
Retinal pigment epithelial atrophy, Retinal thinning, Chorioretinal degeneration, Retinal pigment... ORPHA:41751
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Ataxia, Elevated circulating creatine kinase concentration, Cachexia, Short stature, Decreased ne... ORPHA:1933
Intellectual Developmental Disorder With Hypotonia, Impaired Speech, And Dysmorphic Facies
Ataxia, Tremor, Inability to walk, Seizure, Hypertonia, Cerebellar hypoplasia, Failure to thrive OMIM:619556
Neutral Lipid Storage Disease With Ichthyosis
Elevated hepatic transaminase, Hepatomegaly, Alopecia, Ataxia, Short stature, Obesity, Central ne... ORPHA:98907
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Ataxia, Elevated circulating creatine kinase concent... ORPHA:42
Focal Facial Dermal Dysplasia Type Iii
Sparse lower eyelashes, Abnormal hair pattern, Highly arched eyebrow, Sparse hair, Distichiasis, ... ORPHA:1807
Alstrom Syndrome
Elevated hepatic transaminase, Cone/cone-rod dystrophy, Alopecia, Chronic active hepatitis, Hepat... OMIM:203800
Subacute Inflammatory Demyelinating Polyneuropathy
Decreased motor nerve conduction velocity, Tremor, Motor conduction block, Choreoathetosis, Axona... ORPHA:206594
Bardet-Biedl Syndrome 17
Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Dextrocardia, Macular atrophy, ... OMIM:615994
Cone-Rod Dystrophy 13
Cone/cone-rod dystrophy, Macular degeneration OMIM:608194
Trichothiodystrophy 4, Nonphotosensitive
Brittle hair, Sparse eyelashes, Concave nail, Abnormality of hair texture, Nail dystrophy, Small ... OMIM:234050
Senior-Loken Syndrome 7
Retinal degeneration OMIM:613615
Retinitis Pigmentosa 13
Bone spicule pigmentation of the retina, Optic disc drusen, Perifoveal ring of hyperautofluoresce... OMIM:600059
Hypomelanosis Of Ito
Gray matter heterotopia, Alopecia, Seizure, Cerebral atrophy OMIM:300337
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome
Alopecia, Brittle hair, Ventricular septal defect, Short stature, Aplasia/Hypoplasia of the cereb... ORPHA:75389
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome
Absent foveal reflex, Patent ductus arteriosus, Retinal dystrophy, Peripheral retinal atrophy OMIM:615147
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Persistent fetal circulation, Papilledema, Small for gestational age, Alopecia totalis, Ventricul... OMIM:618775
Hypotaurinemic Retinal Degeneration And Cardiomyopathy
Retinal thinning, Macular atrophy, Peripheral retinal atrophy, Retinal pigment epithelial mottlin... OMIM:145350
Bohring-Opitz Syndrome
Retinal atrophy, Short stature, Cardiomegaly, Inability to walk, Synophrys, Optic atrophy, Seizur... ORPHA:97297
Erythrokeratodermia Variabilis
Alopecia, Short stature, Abnormal hair morphology, Weight loss, Abnormality of the nail, Generali... ORPHA:317
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome
Alopecia, Short stature, Mitral regurgitation, Restrictive cardiomyopathy, Patent foramen ovale ORPHA:88630
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Aortic regurgitation, Cerebellar atrophy, Tricuspid regurgitation, Bicuspid aortic valve, Ventric... OMIM:620066
Chromosome 2P16.1-P15 Deletion Syndrome
Short stature, Optic nerve hypoplasia, Hypoplasia of the pons, Postnatal growth retardation, Cere... OMIM:612513
Ectodermal Dysplasia-Sensorineural Deafness Syndrome
Sparse hair, Coarse hair, Brittle hair ORPHA:1883
Optic Atrophy-Intellectual Disability Syndrome
Optic disc hypoplasia, Optic nerve hypoplasia, Short stature, Optic atrophy, Seizure, Spasticity ORPHA:401777
Parkinsonism-Dystonia 3, Childhood-Onset
Cerebellar atrophy, Ataxia, Parkinsonism, Tremor, Chorea, Growth delay, Hypertonia, Hyperkinetic ... OMIM:619738
Septo-Optic Dysplasia Spectrum
Septo-optic dysplasia, Short stature, Optic nerve hypoplasia, Hemiplegia/hemiparesis, Obesity, Se... ORPHA:3157
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures
Ataxia, Bilateral tonic-clonic seizure, Tremor, Generalized non-motor (absence) seizure, Myocloni... OMIM:617831
Ectodermal Dysplasia 11B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive
Absent eyebrow, Sparse scalp hair, Absent nipple, Sparse eyelashes, Absent eyelashes, Hypoplastic... OMIM:614941
Ethanolaminosis
Cardiomegaly OMIM:227150
Bestrophinopathy, Autosomal Recessive
Retinal pigment epithelial atrophy, Retinal flecks OMIM:611809
Attrv30M Amyloidosis
Cardiomegaly, Vitreous floaters, Atrioventricular block, Weight loss, Cardiomyopathy, Abnormal au... ORPHA:85447
Joubert Syndrome With Hepatic Defect
Elevated hepatic transaminase, Hepatomegaly, Cerebellar vermis hypoplasia, Ataxia, Portal hyperte... ORPHA:1454
Hemochromatosis, Type 1
Elevated hepatic transaminase, Hepatomegaly, Alopecia, Cardiomegaly, Congestive heart failure, Sp... OMIM:235200
Ectodermal Dysplasia-Syndactyly Syndrome 2
Sparse hair OMIM:613576
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2
Conjunctival telangiectasia, Cerebellar atrophy, Decreased motor nerve conduction velocity, Dysto... OMIM:606002
Atypical Rett Syndrome
Dystonia, Involuntary movements, Infantile spasms, Impaired pain sensation, Tremor, Inability to ... ORPHA:3095
X-Linked Charcot-Marie-Tooth Disease Type 5
Ataxia, Impaired pain sensation, Tremor, Paraparesis, Optic atrophy, Gait disturbance, Abnormal n... ORPHA:99014
Peroxisomal Acyl-Coa Oxidase Deficiency
Hepatomegaly, Optic atrophy, Seizure, Hypertonia, Gait disturbance, Abnormality of visual evoked ... ORPHA:2971
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Cerebellar dysplasia, Enlarged flash visual evoked potentials, Retinal atrophy, Elevated circulat... OMIM:253280
Marshall-Smith Syndrome
Brittle hair, Synophrys, Hypertonia, Atrial septal defect, Sparse hair, Pachygyria, Dysplastic ao... OMIM:602535
Oculodentodigital Dysplasia
Curly hair, Brittle hair, Ataxia, Abnormal fingernail morphology, Slow-growing hair, Ventricular ... ORPHA:2710
Adams-Oliver Syndrome
Gastrointestinal hemorrhage, Alopecia, Abnormal pulmonary valve morphology, Portal hypertension, ... ORPHA:974
Central Retinal Vein Occlusion
Papilledema, Epiretinal membrane, Intraretinal hemorrhage, Macular edema, Macular degeneration, P... ORPHA:411527
Inherited Creutzfeldt-Jakob Disease
Tremor, Chorea, Abnormal pyramidal sign, Gait ataxia, Spastic dysarthria, Progressive extrapyrami... ORPHA:282166
Gand Syndrome
Sparse hair OMIM:615074
16Q24.3 Microdeletion Syndrome
Ventricular septal defect, Optic nerve hypoplasia, Abnormal hair pattern, Highly arched eyebrow, ... ORPHA:261250
Retinitis Pigmentosa 19
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R... OMIM:601718
Cronkhite-Canada Syndrome
Hepatomegaly, Alopecia, Abnormal fingernail morphology, Cachexia, Hypoplastic toenails, Splenomeg... ORPHA:2930
Dystonia 28, Childhood-Onset
Torticollis, Short stature, Tremor, Tip-toe gait, Gait disturbance, Myoclonus, Retrocollis, Dysto... OMIM:617284
Revesz Syndrome
Abnormality of chromosome stability, Ataxia, Nail pits, Fine hair, Exudative retinopathy, Hyperto... OMIM:268130
Retinitis Pigmentosa 38
Optic disc pallor, Peripheral retinal atrophy, Macular atrophy, Rod-cone dystrophy OMIM:613862
Phace Association
Ventricular septal defect, Optic nerve hypoplasia, Patent ductus arteriosus, Optic atrophy, Horne... OMIM:606519
Myopathy, Mitochondrial, And Ataxia
Ataxia, Thick hair, Elevated circulating creatine kinase concentration, Short stature, Tremor, In... OMIM:617675
Autosomal Dominant Progressive External Ophthalmoplegia
Elevated circulating creatine kinase concentration, Tremor, Gait ataxia, Hypertonia, Ataxia, Faci... ORPHA:254892
Hypotrichosis With Juvenile Macular Degeneration
Sparse scalp hair, Brittle hair, Short stature, Fine hair, Macular degeneration, Abnormality of m... ORPHA:1573
Bresek Syndrome
Alopecia, Aganglionic megacolon, Optic nerve hypoplasia, Growth delay, Microphthalmia, Intrauteri... ORPHA:85284
Mulibrey Nanism
Hepatomegaly, Short stature, Cardiomegaly, Congestive heart failure, Myocardial fibrosis, Growth ... OMIM:253250
Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome
Lower limb spasticity, Optic nerve hypoplasia, Generalized non-motor (absence) seizure, Fine hair... ORPHA:363686
Cerebellar, Ocular, Craniofacial, And Genital Syndrome
Laterally extended eyebrow, Hypoplasia of the pons, Synophrys, Low anterior hairline, Hirsutism, ... OMIM:618479
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Diffuse cerebral atrophy, Postural tremor, Tremor, Rigidity, Babinski sign, Bradykinesia, Gait di... ORPHA:314632
Ichthyosis, Congenital, Autosomal Recessive 1
Sparse hair, Alopecia, Nail dystrophy, Nail dysplasia OMIM:242300
Combined Oxidative Phosphorylation Deficiency 15
Wolff-Parkinson-White syndrome, Optic disc pallor, Incoordination, Ataxia, Ventricular septal def... OMIM:614947
Fg Syndrome 3
Sparse hair, Frontal upsweep of hair, Fine hair OMIM:300406
Hereditary Bullous Dystrophy, Macular Type
Alopecia, Congenital abnormal hair pattern, Short stature, Heart murmur, Abnormal heart morpholog... ORPHA:1867
Trichohepatoenteric Syndrome 2
Brittle hair, Uncombable hair, Sparse hair, Woolly hair, Trichorrhexis nodosa OMIM:614602
Macular Degeneration, Age-Related, 1
Macular drusen, Choroidal neovascularization, Geographic atrophy, Macular hemorrhage, Macular deg... OMIM:603075
Ectodermal Dysplasia 11A, Hypohidrotic/Hair/Tooth Type, Autosomal Dominant
Sparse hair, Brittle hair, Absent nipple, Absent hair OMIM:614940
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Lower limb spasticity, Resting tremor, Broad-based gait, Short stature, Parkinsonism, Tremor, Con... ORPHA:3077
Retinitis Pigmentosa 90
Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Hyperautofluorescent... OMIM:619007
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Ventricular hypertrophy, Tricuspid regurgitation, Cardiomegaly, Limb ataxia, Undetectable visual ... OMIM:619051
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18
Cerebellar atrophy, Elevated hepatic transaminase, Hepatomegaly, Speech apraxia, Ataxia, Elevated... OMIM:615356
Sialidosis Type 2
Hepatomegaly, Ataxia, Short stature, Tremor, Splenomegaly, Seizure, Abnormal macular morphology ORPHA:87876
Neurodegeneration With Brain Iron Accumulation 1
Tremor, Abnormal pyramidal sign, Choreoathetosis, Retinal degeneration, Eyelid apraxia, Ataxia, P... OMIM:234200
Mogs-Cdg
Absent brainstem auditory responses, Alopecia, Hepatomegaly, Left ventricular hypertrophy, Cardio... ORPHA:79330
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia
Sparse scalp hair, Alopecia, Abnormal fingernail morphology, Hypoplastic toenails, Fingernail dys... ORPHA:2325
Microcephaly 20, Primary, Autosomal Recessive
Short stature, Optic nerve hypoplasia, Simplified gyral pattern, Microlissencephaly, Cerebellar h... OMIM:617914
Developmental And Epileptic Encephalopathy 95
Cerebellar atrophy, Hepatomegaly, Multifocal seizures, Ataxia, Bilateral tonic-clonic seizure, Hi... OMIM:618143
Blepharocheilodontic Syndrome 1
Nail dysplasia, Small nail, Sparse hair, High anterior hairline, Distichiasis OMIM:119580
Joubert Syndrome With Ocular Defect
Cerebellar vermis hypoplasia, Ataxia, Dextrocardia, Highly arched eyebrow, Retinal dystrophy, Aga... ORPHA:220493
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Cerebellar atrophy, Exaggerated startle response, Tremor, Patent ductus arteriosus, Myoclonic sei... OMIM:620327
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Short stature, Tremor, Simplified gyral pattern, Gait ataxia, Seizure, Abdominal obesity, Delayed... OMIM:300354
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Cerebellar atrophy, Optic disc pallor, Epileptic spasm, Decreased nerve conduction velocity, Opti... ORPHA:485421
Neurodegeneration With Brain Iron Accumulation 5
Cerebellar atrophy, Dystonia, Parkinsonism, Akinesia, Tremor, Rigidity, Cerebral atrophy, Bradyki... OMIM:300894
Sandhoff Disease
Hepatomegaly, Orthostatic hypotension, Exaggerated startle response, Reduced beta-hexosaminidase ... OMIM:268800
Polyendocrine-Polyneuropathy Syndrome
Alopecia, Ataxia, Postnatal growth retardation, Abnormal pyramidal sign, Cerebellar hypoplasia, D... ORPHA:453533
Hurler Syndrome
Aortic regurgitation, Hepatomegaly, Short stature, Splenomegaly, Hepatosplenomegaly, Cardiomyopat... OMIM:607014
Hemifacial Atrophy, Progressive
Ataxia, Poliosis, Horner syndrome, Seizure, Patchy alopecia OMIM:141300
Congenital Disorder Of Glycosylation, Type Ia
Cerebellar atrophy, Dilated fourth ventricle, Pericarditis, Cerebellar vermis hypoplasia, Elevate... OMIM:212065
Permanent Neonatal Diabetes Mellitus-Pancreatic And Cerebellar Agenesis Syndrome
Optic nerve hypoplasia, Cerebellar hypoplasia ORPHA:65288
Bardet-Biedl Syndrome 9
Bone spicule pigmentation of the retina, Obesity, Truncal obesity, Rod-cone dystrophy, Retinal de... OMIM:615986
Cone-Rod Dystrophy, X-Linked, 1
Retinal pigment epithelial mottling, Retinal pigment epithelial atrophy, Hypoautofluorescent macu... OMIM:304020
Cone-Rod Dystrophy 16
Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Beaten bronz... OMIM:614500
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis
Hepatomegaly, Alopecia, Sparse eyelashes, Elevated circulating creatine kinase concentration, Spa... OMIM:615704
Metachromatic Leukodystrophy, Adult Form
Decreased nerve conduction velocity, Chorea, Babinski sign, Optic atrophy, Clumsiness, Seizure, P... ORPHA:309271
Wolfram Syndrome 1
Ataxia, Tremor, Optic atrophy, Cerebral atrophy, Growth delay, Cardiomyopathy, Pigmentary retinop... OMIM:222300
Craniofaciofrontodigital Syndrome
Bicuspid aortic valve, Large for gestational age, Cardiomegaly, Low anterior hairline, Atrial sep... ORPHA:363705
Global Developmental Delay-Visual Anomalies-Progressive Cerebellar Atrophy-Truncal Hypotonia Syndrome
Corpus callosum atrophy, Optic atrophy, Low anterior hairline, Cerebral atrophy, Dystonic gait, A... ORPHA:480898
Joubert Syndrome 37
Hepatomegaly, Cerebellar vermis hypoplasia, Short stature, Oculomotor apraxia, Obesity, Sparse ha... OMIM:619185
Kury-Isidor Syndrome
Alopecia, Ventricular septal defect, Growth delay, Exudative vitreoretinopathy, Seizure, Hypertri... OMIM:619762
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Sparse scalp hair, Alopecia, Absent eyebrow, Absent eyelashes, Sparse body hair ORPHA:69735
Dyskeratosis Congenita, Autosomal Dominant 1
Ridged nail, Alopecia, Ataxia, Hepatic necrosis, Nail pits, Premature graying of hair, Cerebellar... OMIM:127550
Intellectual Developmental Disorder, X-Linked, Syndromic 33
Cerebellar atrophy, Cerebellar vermis hypoplasia, Ataxia, Postnatal growth retardation, Tremor, S... OMIM:300966
Intellectual Developmental Disorder, Autosomal Dominant 54
Cerebellar atrophy, Lower limb spasticity, Ataxia, Thin nail, Small for gestational age, Bilatera... OMIM:617799
Bornholm Eye Disease
Abnormality of retinal pigmentation, Optic nerve hypoplasia OMIM:300843
Progeroid Syndrome, Petty Type
Brittle hair, Abnormal hair morphology, Abnormality of the nail, Long eyelashes in irregular rows... ORPHA:2963
Joubert Syndrome 40
Oculomotor apraxia, Optic nerve hypoplasia OMIM:619582
Androgen Insensitivity Syndrome
Sparse pubic hair, Absent facial hair, Sparse axillary hair OMIM:300068
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia
Incoordination, Ataxia, Tremor, Abnormal pyramidal sign, Eyelid myoclonus, Seizure, Pontocerebell... OMIM:618060
Renpenning Syndrome
Abnormal hairshaft morphology, Alopecia, Severe short stature, Cachexia, Growth delay, Seizure, T... ORPHA:3242
Combined Oxidative Phosphorylation Deficiency 8
Cardiomegaly, Congestive heart failure, Reduced left ventricular ejection fraction, Hypertrophic ... OMIM:614096
Trichothiodystrophy 8, Nonphotosensitive
Sparse hair, Woolly hair, Sparse eyebrow, Trichorrhexis nodosa OMIM:619691
Alpha-N-Acetylgalactosaminidase Deficiency
Clonus, Cardiomegaly, Tetraplegia, Seizure, Cerebellar hypoplasia, Spasticity, Cerebral cortical ... ORPHA:3137
Bothnia Retinal Dystrophy
Macular degeneration, Retinal dystrophy OMIM:607475
Olmsted Syndrome 2
Sparse hair, Woolly hair, Alopecia universalis OMIM:619208
Mitochondrial Complex I Deficiency, Nuclear Type 36
Optic disc pallor, Cardiomegaly, Seizure, Perimembranous ventricular septal defect, Spasticity, L... OMIM:619170
Porphyria Cutanea Tarda
Facial hypertrichosis, Alopecia, Onycholysis, Reduced uroporphyrinogen decarboxylase activity OMIM:176100
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy
Ridged nail, Alopecia, Nail dystrophy, Nail pits OMIM:601705
3-Methylglutaconic Aciduria, Type Viib
Cerebellar atrophy, Ataxia, Rhizomelia, Tremor, Congestive heart failure, Cerebral atrophy, Opist... OMIM:616271
Dpagt1-Cdg
Tremor, Intracranial hemorrhage, Hypertonia, Diffuse optic disc pallor, Hepatomegaly, Ataxia, Foc... ORPHA:86309
Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome
Alopecia, Supernumerary nipple, Truncal obesity, Cerebellar hypoplasia, Abnormal cerebellar vermi... ORPHA:3224
Tetraamelia With Ectodermal Dysplasia And Lacrimal Duct Abnormalities
Sparse hair OMIM:273390
Congenital Bile Acid Synthesis Defect Type 4
Elevated hepatic transaminase, Giant cell hepatitis, Abnormal circulating enzyme concentration or... ORPHA:79095
Pseudoxanthoma Elasticum
Gastrointestinal hemorrhage, Angina pectoris, Choroidal neovascularization, Congestive heart fail... OMIM:264800
Non-Functioning Paraganglioma
Paraganglioma of head and neck, Hypertensive retinopathy, Cerebral hemorrhage, Tremor, Congestive... ORPHA:94080
Optic Atrophy 8
Abnormal auditory evoked potentials, Abnormality of pattern visual evoked potentials, Optic atrop... OMIM:616648
Sneddon Syndrome
Bicuspid aortic valve, Facial palsy, Cerebral hemorrhage, Tremor, Hypertension, Seizure, Ischemic... OMIM:182410
Congenital Disorder Of Glycosylation, Type Iia
Thick eyebrow, Ventricular septal defect, Short stature, Postnatal growth retardation, Unsteady g... OMIM:212066
Fanconi Anemia, Complementation Group S
Chromosome breakage, Ataxia, Short stature, Low anterior hairline, Long eyelashes, Sparse hair, M... OMIM:617883
Autosomal Recessive Spastic Paraplegia Type 44
Lower limb spasticity, Somatic sensory dysfunction, Ataxia, Abnormal auditory evoked potentials, ... ORPHA:320401
Congenitally Uncorrected Transposition Of The Great Arteries
Cardiac shunt, Cardiomegaly, Dextrotransposition of the great arteries, Abnormality of blood circ... ORPHA:860
Alopecia-Contractures-Dwarfism Mental Retardation Syndrome
Severe postnatal growth retardation, Alopecia, Severe short stature OMIM:203550
Severe Early-Childhood-Onset Retinal Dystrophy
Retinal detachment, Bone spicule pigmentation of the retina, Rhegmatogenous retinal detachment, A... ORPHA:364055
Hypobetalipoproteinemia, Familial, 1
Ataxia, Elevated circulating aspartate aminotransferase concentration, Elevated circulating alani... OMIM:615558
De Barsy Syndrome
Cerebellar vermis hypoplasia, Ventricular septal defect, Short stature, Postnatal growth retardat... ORPHA:2962
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Facial palsy, Focal-onset seizure, Inability to walk, Generalized non-motor (absence) seizure, Ca... ORPHA:258
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome
Optic disc pallor, Retinal dystrophy, Macular coloboma, Bilateral tonic-clonic seizure, Short sta... ORPHA:423479
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z
Abnormal peripheral myelination, Tremor, Tongue tremor, Hypertonia, Impaired vibratory sensation,... ORPHA:466768
Canavan Disease
Abnormality of retinal pigmentation, Optic atrophy, Seizure, Hypertonia, Abnormality of visual ev... ORPHA:141
Retinitis Pigmentosa With Or Without Skeletal Anomalies
Sparse eyelashes, Ventricular septal defect, Short stature, Sparse eyebrow, Hypoautofluorescent r... OMIM:250410
Oculocerebrocutaneous Syndrome
Alopecia, Abnormal fingernail morphology, Hemiplegia/hemiparesis, Seizure, Cerebellar hypoplasia,... ORPHA:1647
Charcot-Marie-Tooth Disease, Type 4D
Abnormal auditory evoked potentials, Impaired distal proprioception, Decreased nerve conduction v... OMIM:601455
African Trypanosomiasis
Tremor, Impaired proprioception, Choreoathetosis, Abnormal EKG, Alopecia, Papilledema, Hepatomega... ORPHA:3385
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy
Decreased motor nerve conduction velocity, Optic disc pallor, Optic atrophy, Distal sensory impai... OMIM:601152
Biotinidase Deficiency
Alopecia, Ataxia, Bilateral tonic-clonic seizure, Optic neuropathy, Infantile spasms, Optic atrop... ORPHA:79241
19P13.13 Microdeletion Syndrome
Optic nerve hypoplasia, Corpus callosum atrophy, Optic atrophy, Chiari type I malformation, Seizu... ORPHA:357001
Encephalocraniocutaneous Lipomatosis
Alopecia, Paralysis, Abnormal eyelash morphology, Rigidity, Cerebral atrophy, Tetraplegia, Hemipa... ORPHA:2396
Ifap Syndrome 2
Sparse hair, Nail dystrophy, Atrichia OMIM:619016
Monosomy 18P
Alopecia, Generalized dystonia, Short stature, Low posterior hairline, Hypertension, Microphthalmia ORPHA:1598
Hereditary Mucoepithelial Dysplasia
Sparse hair, Alopecia, Fine hair ORPHA:1839
Clouston Syndrome
Alopecia, Brittle hair, Sparse eyelashes, Alopecia totalis, Slow-growing hair, Short stature, Spa... OMIM:129500
Retinitis Pigmentosa 88
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Cystoid macular... OMIM:618826
Naxos Disease
Prolonged QRS complex, Cardiomegaly, Subungual hyperkeratosis, Sudden cardiac death, Sparse eyebr... OMIM:601214
Papillorenal Syndrome
Retinal detachment, Short stature, Morning glory anomaly, Macular hyperpigmentation, Optic disc c... OMIM:120330
X-Linked Charcot-Marie-Tooth Disease Type 4
Ataxia, Impaired pain sensation, Decreased nerve conduction velocity, Tremor, Gait disturbance ORPHA:101078
Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome
Incoordination, Short stature, Patchy atrophy of the retinal pigment epithelium, Poor fine motor ... ORPHA:436245
Lelis Syndrome
Yellow nails, Absent lower eyelashes, Nail dystrophy, Sparse hair, Abnormal toenail morphology, S... ORPHA:140936
Abetalipoproteinemia
Retinopathy, Ataxia, Peripheral demyelination, Retinal degeneration OMIM:200100
Glut1 Deficiency Syndrome 2
Ataxia, Tremor, Splenomegaly, Cerebral atrophy, Choreoathetosis, Seizure, Dystonia OMIM:612126
Congenital Disorder Of Glycosylation, Type Im
Alopecia, Sparse eyelashes, Sparse eyebrow, Dilated cardiomyopathy, Tetraplegia, Seizure, Bradyca... OMIM:610768
Autosomal Dominant Spastic Paraplegia Type 9A
Corpus callosum atrophy, Abnormal cerebellum morphology, Tremor, Babinski sign, Impaired vibratio... ORPHA:447753
Cerebral Creatine Deficiency Syndrome 2
Lower limb spasticity, Ataxia, Bilateral tonic-clonic seizure, Tremor, Rigidity, Paraparesis, Pro... OMIM:612736
Metachromatic Leukodystrophy, Late Infantile Form
Decreased nerve conduction velocity, Babinski sign, Optic atrophy, Gait ataxia, Clumsiness, Seizu... ORPHA:309256
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Aplasia/Hypoplasia of the iris, Alopecia, Hypopigmentation of hair, Abnormal heart morphology ORPHA:1067
Cardiofaciocutaneous Syndrome 1
Absent eyebrow, Curly hair, Atrial septal defect, Slow-growing hair, Short stature, Peripheral ax... OMIM:115150
Histiocytoid Cardiomyopathy
Wolff-Parkinson-White syndrome, Cardiomegaly, Ventricular tachycardia, Atrioventricular block, Su... ORPHA:137675
Epidermolysis Bullosa Simplex 5D, Generalized Intermediate, Autosomal Recessive
Alopecia, Nail dystrophy OMIM:616487
Cone-Rod Dystrophy 15
Rod-cone dystrophy, Retinal pigment epithelial atrophy, Attenuation of retinal blood vessels OMIM:613660
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Periventricular heterotopia, Retinal pigment epithelial mottling, Dystonia, Sparse hair, Micropht... OMIM:614105
Intellectual Developmental Disorder, X-Linked, Syndromic, 35
Ataxia, Ventricular septal defect, Short stature, Frequent falls, Tremor, Dorsal hirsutism, Gait ... OMIM:300998
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Absent eyebrow, Alopecia, Sparse scalp hair, Sparse eyelashes, Non-convulsive status epilepticus ... ORPHA:544488
Autosomal Dominant Hypocalcemia
Alopecia, Abnormal fingernail morphology, Writer's cramp, Congestive heart failure, Optic atrophy... ORPHA:428
Chédiak-Higashi Syndrome
Tremor, Large clumps of pigment irregularly distributed along hair shaft, Ataxia, Parkinsonism, P... ORPHA:167
Epidermolysis Bullosa Simplex With Mottled Pigmentation
Alopecia, Nail dystrophy, Nail dysplasia ORPHA:79397
Cardiocranial Syndrome, Pfeiffer Type
Torticollis, Short stature, Abnormal hair whorl, Abnormal heart morphology, Growth delay, Sparse ... ORPHA:2872
Carnitine Deficiency, Systemic Primary
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... OMIM:212140
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy
Hepatomegaly, Left ventricular noncompaction cardiomyopathy, Left atrial enlargement, Facial pals... OMIM:619424
Retinitis Pigmentosa 27
Bone spicule pigmentation of the retina, Peripapillary chorioretinal atrophy, Macular atrophy, Ch... OMIM:613750
Sialidosis Type 1
Ataxia, Short stature, Decreased nerve conduction velocity, Splenomegaly, Tremor, Slurred speech,... ORPHA:812
Intellectual Developmental Disorder, Autosomal Dominant 65
Ataxia, Infantile spasms, Synophrys, Low posterior hairline, Clumsiness, Seizure, Thin eyebrow, S... OMIM:619320
Dentatorubral Pallidoluysian Atrophy
Ataxia, Involuntary movements, Optic neuropathy, Dyssynergia, Impaired proprioception, Dysmetria,... ORPHA:101
Spontaneous Periodic Hypothermia
Ataxia, Tremor, Seizure, Gait disturbance, Arrhythmia ORPHA:29822
Vitreoretinopathy With Phalangeal Epiphyseal Dysplasia
Rhegmatogenous retinal detachment, Lattice retinal degeneration OMIM:619248
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma
Alopecia, Sparse eyelashes, Sparse eyebrow, Congestive heart failure, Dilated cardiomyopathy, Ven... OMIM:605676
Coronary Arterial Fistula
Continuous heart murmur, Bicuspid aortic valve, Cardiomegaly, Abnormal left ventricular function,... ORPHA:2041
Olmsted Syndrome 1
Subungual hyperkeratosis, Nail dystrophy, Nail dysplasia, Sparse hair, Alopecia universalis OMIM:614594
Fbln1-Related Developmental Delay-Central Nervous System Anomaly-Syndactyly Syndrome
Choroidal neovascularization, Infantile spasms, Spastic tetraparesis, Macular degeneration, Dysto... ORPHA:404451
Fixed Subaortic Stenosis
Paroxysmal atrial fibrillation, Bicuspid aortic valve, Cardiomegaly, Bacterial endocarditis, Atri... ORPHA:3092
Progeria-Short Stature-Pigmented Nevi Syndrome
Elevated hepatic transaminase, Alopecia, Broad-based gait, Small for gestational age, Short statu... ORPHA:2959
Holocarboxylase Synthetase Deficiency
Alopecia, Ataxia, Weight loss, Growth delay, Seizure ORPHA:79242
Glutaryl-Coa Dehydrogenase Deficiency
Abnormal circulating enzyme concentration or activity, Pallidal degeneration, Dystonia, Ataxia, P... ORPHA:25
Cockayne Syndrome Type 1
Elevated hepatic transaminase, Absent brainstem auditory responses, Hepatomegaly, Lower limb spas... ORPHA:90321
Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome
Sparse scalp hair, Alopecia, Short stature, Sparse eyebrow, Fine hair, Dystrophic fingernails, Dy... ORPHA:1882
Spastic Paraplegia 54, Autosomal Recessive
Short stature, Optic nerve hypoplasia, Rigidity, Babinski sign, Spastic paraplegia, Upper limb sp... OMIM:615033
Mucolipidosis Iii Alpha/Beta
Aortic regurgitation, Short stature, Increased iduronate sulfatase level, Retinopathy, Retinal de... OMIM:252600
Spinocerebellar Ataxia 8
Cerebellar atrophy, Incoordination, Tremor, Abnormal pyramidal sign, Progressive cerebellar ataxi... OMIM:608768
Axial Spondylometaphyseal Dysplasia
Retinal dystrophy, Peripheral retinal degeneration, Mild postnatal growth retardation, Short stat... ORPHA:168549
Migraine, Familial Hemiplegic, 2
Cerebellar atrophy, Bilateral tonic-clonic seizure, Tremor, Focal motor seizure, Dysmetria, Gait ... OMIM:602481
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones
Small for gestational age, Sparse facial hair, Sparse axillary hair, Short stature, Seizure, Intr... OMIM:608154
Hydranencephaly
Optic nerve hypoplasia, Postnatal growth retardation, Dilatation of the ventricular cavity, Chori... ORPHA:2177
Gerstmann-Straussler Disease
Cerebellar atrophy, Parkinsonism, Tremor, Rigidity, Limb ataxia, Weight loss, Gait ataxia, Bradyk... OMIM:137440
Vici Syndrome
Hypopigmentation of hair, Cerebellar vermis hypoplasia, Left ventricular hypertrophy, Macular atr... OMIM:242840
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive in infancy, Cardiomegaly, Synophry... OMIM:619064
Noonan Syndrome 6
Curly hair, Short stature, Long eyebrows, Low posterior hairline, Growth delay, Pulmonic stenosis... OMIM:613224
Neurodevelopmental Disorder With Speech Delay And Variable Ocular Anomalies
Sparse hair, Sparse eyebrow OMIM:619989
Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 1
Lacunar stroke, Seizure, Pseudobulbar paralysis, Hemiparesis, Gait disturbance, Abnormality of vi... OMIM:125310
Myoclonic-Astatic Epilepsy
Epileptic spasm, Bilateral tonic-clonic seizure with generalized onset, Ataxia, Simple febrile se... ORPHA:1942
Anauxetic Dysplasia 2
Sparse hair, Nail dysplasia, Small nail OMIM:617396
Mitochondrial Complex I Deficiency, Nuclear Type 1
Cerebellar atrophy, Optic disc pallor, Failure to thrive, Hepatomegaly, Ataxia, Bilateral tonic-c... OMIM:252010
Dystonia 1, Torsion, Autosomal Dominant
Cerebellar atrophy, Torticollis, Generalized dystonia, Writer's cramp, Facial palsy, Tremor, Inab... OMIM:128100
Johnson Neuroectodermal Syndrome
Absent eyebrow, Alopecia, Severe short stature, Facial palsy, Absent eyelashes, Tetralogy of Fall... ORPHA:2316
Pancreatic And Cerebellar Agenesis
Agenesis of cerebellar vermis, Optic nerve hypoplasia, Secundum atrial septal defect, Seizure, Ce... OMIM:609069
Xq12-Q13.3 Duplication Syndrome
Optic disc pallor, Short stature, Elevated circulating creatine kinase concentration, Impaired pa... ORPHA:314389
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
Alopecia, Agenesis of cerebellar vermis, Fine hair, Microphthalmia, Intrauterine growth retardation ORPHA:228390
Spinocerebellar Ataxia Type 21
Akinesia, Tremor, Rigidity, Gait ataxia, Progressive cerebellar ataxia, Abnormality of extrapyram... ORPHA:98773
Alpha-Heavy Chain Disease
Splenomegaly, Hepatomegaly, Alopecia, Growth delay ORPHA:100025
Metachromatic Leukodystrophy, Juvenile Form
Decreased nerve conduction velocity, Babinski sign, Optic atrophy, Clumsiness, Seizure, Progressi... ORPHA:309263
Onychotrichodysplasia And Neutropenia
Curly hair, Curly eyelashes, Concave nail, Sparse pubic hair, Short eyelashes, Trichorrhexis nodo... OMIM:258360
Cardiofaciocutaneous Syndrome
Atrial septal defect, Brittle hair, Failure to thrive in infancy, Slow-growing hair, Abnormal hea... ORPHA:1340
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome
Dystonia, Parkinsonism, Tremor, Rigidity, Head titubation, Inability to walk, Cerebral atrophy, G... OMIM:618877
Congenital Myopathy 8
Congestive heart failure, Cardiomegaly OMIM:618654
Zellweger-Like Syndrome Without Peroxisomal Anomalies
Hepatomegaly, Alopecia, Brittle hair, Short stature, Intrauterine growth retardation, Failure to ... ORPHA:50812
Abetalipoproteinemia
Elevated hepatic transaminase, Impaired vibratory sensation, Abnormality of retinal pigmentation,... ORPHA:14
Joubert Syndrome
Cerebellar vermis hypoplasia, Aganglionic megacolon, Ataxia, Highly arched eyebrow, Situs inversu... ORPHA:475
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... OMIM:600649
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Atrial flutter, Tricuspid regurgitation, Cardiomegaly, Congestive heart failure, Inability to wal... ORPHA:324410
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Congestive heart failure, Seizure, Spastic tetraplegia, Cardiomegaly OMIM:300886
Hallermann-Streiff Syndrome
Sparse scalp hair, Small for gestational age, Sparse eyelashes, Bilateral tonic-clonic seizure, P... OMIM:234100
Ectodermal Dysplasia-Syndactyly Syndrome 1
Sparse scalp hair, Alopecia, Sparse eyelashes, Absent facial hair, Hypoplastic toenails, Coarse h... OMIM:613573
Cahmr Syndrome
Generalized hypertrichosis OMIM:211770
Combined Oxidative Phosphorylation Deficiency 3
Hepatomegaly, Ataxia, Elevated circulating creatine kinase concentration, Optic neuropathy, Bilat... OMIM:610505
Leber Congenital Amaurosis 9
Optic disc pallor, Bone spicule pigmentation of the retina, Macular coloboma, Macular scar, Macul... OMIM:608553
Cerebellar-Facial-Dental Syndrome
Infancy onset short-trunk short stature, Severe short stature, Ventricular septal defect, Hypopla... ORPHA:444072
Retinitis Pigmentosa 51
Bone spicule pigmentation of the retina, Obesity, Macular degeneration, Rod-cone dystrophy, Atten... OMIM:613464
Mucopolysaccharidosis Type 2
Papilledema, Abnormality of retinal pigmentation, Hepatomegaly, Abnormal heart valve morphology, ... ORPHA:580
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Cerebellar atrophy, Exaggerated startle response, Tremor, Abnormal cerebellum morphology, Truncal... OMIM:618056
Brachytelephalangic Chondrodysplasia Punctata
Abnormal circulating enzyme concentration or activity, Ventricular septal defect, Optic disc hypo... ORPHA:79345
Farber Disease
Elevated hepatic transaminase, Abnormal circulating enzyme concentration or activity, Intrahepati... ORPHA:333
Xeroderma Pigmentosum
Conjunctival telangiectasia, Alopecia, Telangiectasia of the skin, Ataxia, Short stature, Optic a... ORPHA:910
Autoimmune Lymphoproliferative Syndrome, Type Iii
Hepatomegaly, Alopecia, Elevated circulating aspartate aminotransferase concentration, Splenomega... OMIM:615559
Chediak-Higashi Syndrome
Spontaneous, recurrent epistaxis, Hypopigmentation of hair, Hepatomegaly, Ataxia, Decreased nerve... OMIM:214500
Oculocutaneous Albinism Type 1
Hypoplasia of the fovea, White eyelashes, White eyebrow, Depigmented fundus, Abnormal morphology ... ORPHA:352731
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
Ataxia, Optic nerve hypoplasia, Low posterior hairline, Intention tremor, Positive Romberg sign, ... ORPHA:221139
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive
Elevated hepatic transaminase, Alopecia, Short stature, Cerebral atrophy, Elevated gamma-glutamyl... OMIM:242150
Cortisone Reductase Deficiency 1
Alopecia, Obesity, Hirsutism OMIM:604931
Encephalocraniocutaneous Lipomatosis
Alopecia, Ventricular septal defect, Hypoplasia of the iris, Seizure, Cerebellar hypoplasia, Subv... OMIM:613001
Oguchi Disease
Congenital stationary night blindness, Macular degeneration, Rod-cone dystrophy, Mizuo phenomenon ORPHA:75382
Rhizomelic Chondrodysplasia Punctata, Type 2
Rhizomelia, Optic nerve hypoplasia, Disproportionate short stature, Tetralogy of Fallot, Failure ... OMIM:222765
Cardiomyopathy, Familial Hypertrophic, 27
Prolonged QT interval, Tricuspid regurgitation, Cardiac arrest, Cardiomegaly, Left ventricular di... OMIM:618052
Acrofacial Dysostosis, Palagonia Type
Sparse eyelashes, Low anterior hairline, Thin eyebrow, Sparse hair, Pili torti, Sparse lateral ey... ORPHA:1787
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies
Abnormal hair morphology, Bilateral microphthalmos, Optic nerve hypoplasia OMIM:607597
Koolen-De Vries Syndrome Due To A Point Mutation
Speech apraxia, Alopecia, Generalized-onset seizure, Small for gestational age, Bicuspid aortic v... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Speech apraxia, Alopecia, Generalized-onset seizure, Small for gestational age, Bicuspid aortic v... ORPHA:363958
Celiac Disease, Susceptibility To, 1
Elevated hepatic transaminase, Alopecia, Ataxia, Short stature, Postnatal growth retardation, Wei... OMIM:212750
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome
Large for gestational age, Gait ataxia, Myoclonic seizure, Chorioretinal coloboma, Sparse hair, H... OMIM:280000
Early Infantile Epileptic Encephalopathy
Diffuse cerebral atrophy, Tremor, Choreoathetosis, Pachygyria, Absent thumbnail, Seizure, Myoclon... ORPHA:1934
Angelman Syndrome
Optic disc pallor, Broad-based gait, Ataxia, Infantile spasms, Tremor, Inability to walk, Optic a... ORPHA:72
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Cerebellar atrophy, Acute hepatic failure, Elevated hepatic transaminase, Failure to thrive, Atax... OMIM:203700
Classic Mycosis Fungoides
Splenomegaly, Hepatomegaly, Alopecia, Abnormality of the nail ORPHA:2584
Cutis Laxa, Autosomal Recessive, Type Iiia
Short stature, Athetosis, Seizure, Sparse hair, Intrauterine growth retardation, Failure to thrive OMIM:219150
Myopia, High, With Cataract And Vitreoretinal Degeneration
Retinal detachment, Vitreous floaters, Peripheral vitreoretinal degeneration, Lattice retinal deg... OMIM:614292
Corticobasal Syndrome
Speech apraxia, Somatic sensory dysfunction, Dystonia, Parkinsonism, Limb apraxia, Involuntary mo... ORPHA:454887
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome
Broad eyebrow, Broad-based gait, Cerebellar vermis hypoplasia, Optic nerve hypoplasia, Hypoplasia... ORPHA:495875
Achalasia-Addisonianism-Alacrima Syndrome
Orthostatic hypotension, Ataxia, Short stature, Babinski sign, Optic atrophy, Abnormal autonomic ... OMIM:231550
Den Hoed-De Boer-Voisin Syndrome
Tremor, Ataxia, Overweight, Obesity, Nocturnal seizures, Seizure, Upper limb spasticity, Myoclonu... OMIM:619229
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Aortic regurgitation, Bicuspid aortic valve, Truncus arteriosus, Ventricular septal defect, Facia... ORPHA:508498
Rapp-Hodgkin Syndrome
Sparse eyelashes, Slow-growing hair, Supernumerary nipple, Sparse eyebrow, Fine hair, Progressive... OMIM:129400
Fundus Dystrophy, Pseudoinflammatory, Recessive Form
Central retinal exudate, Peripheral retinal degeneration, Retinal hemorrhage OMIM:264420
Rodrigues Blindness
Sparse hair, Fine hair OMIM:268320
Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, And Other Abnormalities
Sparse hair, Hypoplastic nipples, Small nail OMIM:273400
Even-Plus Syndrome
Sparse hair, Synophrys, Highly arched eyebrow OMIM:616854
Attrv122I Amyloidosis
Abnormal EKG, Angina pectoris, Abnormal atrioventricular conduction, Abnormal enteric nervous sys... ORPHA:85451
Paternal 20Q13.2Q13.3 Microdeletion Syndrome
Sparse hair, Aplasia/Hypoplasia of the eyebrow ORPHA:261304
Alternating Hemiplegia Of Childhood
Tremor, Chorea, Abnormal pyramidal sign, Choreoathetosis, Abnormal T-wave, Ataxia, Focal motor se... ORPHA:2131
Paget Disease Of Bone 5, Juvenile-Onset
Short stature, Macular scar, Angioid streaks of the fundus, Elevated circulating alkaline phospha... OMIM:239000
Cranioectodermal Dysplasia
Sparse hair, Abnormal toenail morphology, Abnormal fingernail morphology ORPHA:1515
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia
Alopecia, Abnormal fingernail morphology, Abnormal hair morphology, Fine hair, Abnormal toenail m... ORPHA:248
Xq21 Microdeletion Syndrome
Ataxia, Abnormal chorioretinal morphology, Chorioretinal degeneration, Postnatal growth retardati... ORPHA:1435
Basel-Vanagaite-Smirin-Yosef Syndrome
Atrial septal defect, Ventricular septal defect, Cerebral atrophy, Seizure, Sparse hair, Pulmonar... OMIM:616449
Atypical Werner Syndrome
Abnormal hair whorl, Premature graying of hair, Retinal degeneration, Alopecia, Short stature, De... ORPHA:79474
Palmoplantar Keratoderma And Congenital Alopecia 2
Nail dystrophy, Alopecia totalis, Nail dysplasia OMIM:212360
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hepatomegaly, Cerebellar vermis hypoplasia, Elevated circulating creatine kinase concentration, C... ORPHA:228308
Bainbridge-Ropers Syndrome
Highly arched eyebrow, Supernumerary nipple, Inability to walk, Synophrys, Hirsutism, Growth dela... OMIM:615485
Desbuquois Syndrome
Severe short stature, Ventricular septal defect, Abnormal eyelash morphology, Disproportionate sh... ORPHA:1425
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Abnormal EKG, Elevated circulating creatine kinase concentration, Cardiomegaly, Inability to walk... ORPHA:268
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Generalized-onset seizure, Simplified gyral pattern, Cerebellar hemisphere hypoplasia, Atrial sep... ORPHA:500150
Xp22.13P22.2 Duplication Syndrome
Short stature, Truncal obesity, Seizure, Slowed slurred speech, Sparse hair, High anterior hairline ORPHA:284180
Adult-Onset Distal Myopathy Due To Vcp Mutation
Parkinsonism, Decreased nerve conduction velocity, Tremor, Cardiomyopathy, Facial diplegia, Fasci... ORPHA:329478
Bathing Suit Ichthyosis
Sparse hair, Alopecia, Nail dystrophy ORPHA:100976
Neurocardiofaciodigital Syndrome
Dilated fourth ventricle, Atrial septal defect, Optic disc pallor, Cerebellar vermis hypoplasia, ... OMIM:619869
Nestor-Guillermo Progeria Syndrome
Sparse scalp hair, Alopecia, Sparse eyelashes, Left atrial enlargement, Short stature, Sparse eye... OMIM:614008
Pili Torti
Abnormal eyebrow morphology, Alopecia, Brittle hair, Abnormality of hair texture, Abnormality of ... ORPHA:2889
Cerebrooculonasal Syndrome
Cerebellar vermis hypoplasia, Sparse eyelashes, Optic nerve hypoplasia, Anophthalmia, Sparse eyeb... OMIM:605627
Mitochondrial Complex I Deficiency, Nuclear Type 39
Small for gestational age, Cardiomegaly, Perimembranous ventricular septal defect, Atrial septal ... OMIM:620135
Kufor-Rakeb Syndrome
Torticollis, Ataxia, Parkinsonism, Akinesia, Tremor, Rigidity, Paraparesis, Babinski sign, Spasti... OMIM:606693
Acromelic Frontonasal Dysostosis
Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Retrocerebellar cyst, Gray matte... OMIM:603671
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly
Curly hair, Atrial septal defect, Tonic seizure, Sparse eyebrow, Patent foramen ovale, Synophrys,... OMIM:620075
Pediatric Systemic Lupus Erythematosus
Alopecia, Raynaud phenomenon, Pericardial effusion, Seizure, Hemiplegia, Increased circulating la... ORPHA:93552
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Alopecia, Highly arched eyebrow, Synophrys, Dystrophic toenail, Nail dystrophy, Sparse hair, Dyst... ORPHA:3253
Developmental And Epileptic Encephalopathy 3
Cerebral atrophy, Seizure, Brain atrophy, Generalized myoclonic seizure, Spasticity, Abnormality ... OMIM:609304
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia
Ridged nail, Absent eyebrow, Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Nail dystrophy,... ORPHA:1010
Cutaneous Telangiectasia And Cancer Syndrome, Familial
Ridged nail, Alopecia, Yellow nails, Telangiectasia, Onycholysis, Nail dystrophy, Facial telangie... OMIM:614564
Orofaciodigital Syndrome I
Dry hair, Alopecia, Short stature, Abnormal cortical gyration, Cerebral atrophy, Abnormal heart m... OMIM:311200
2Q32Q33 Microdeletion Syndrome
Sparse hair, Fine hair ORPHA:251019
Rhizomelic Chondrodysplasia Punctata
Alopecia, Rhizomelia, Short stature, Growth delay, Sparse body hair ORPHA:177
Septooptic Dysplasia
Optic disc hypoplasia, Optic nerve hypoplasia, Short stature OMIM:182230
Timothy Syndrome
Prolonged QT interval, Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Ventric... OMIM:601005
Werner Syndrome
Short stature, Elevated circulating aspartate aminotransferase concentration, Elevated circulatin... OMIM:277700
Mucolipidosis Ii Alpha/Beta
Aortic regurgitation, Hepatomegaly, Brittle hair, Increased iduronate sulfatase level, Cardiomega... OMIM:252500
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2
Atrial septal defect, Bicuspid aortic valve, Hyperconvex nail, Short stature, Hypoplastic left he... OMIM:619721
Intellectual Developmental Disorder And Retinitis Pigmentosa
Abnormal flash visual evoked potentials, Optic disc pallor, Bone spicule pigmentation of the reti... OMIM:618195
Mucopolysaccharidosis, Type Iiib
Hepatomegaly, Cardiomegaly, Splenomegaly, Synophrys, Asymmetric septal hypertrophy, Seizure, Coar... OMIM:252920
Keratoderma Hereditarium Mutilans
Alopecia, Abnormality of the nail, Abnormal toenail morphology ORPHA:494
Neurodegeneration With Brain Iron Accumulation 3
Ataxia, Writer's cramp, Parkinsonism, Tremor, Rigidity, Chorea, Babinski sign, Choreoathetosis, B... OMIM:606159
Trichothiodystrophy 1, Photosensitive
Brittle hair, Small for gestational age, Trichoschisis, Short stature, Telangiectasia, Fine hair,... OMIM:601675
Joubert Syndrome With Renal Defect
Cerebellar vermis hypoplasia, Aganglionic megacolon, Ataxia, Highly arched eyebrow, Tremor, Seizu... ORPHA:220497
Hutchinson-Gilford Progeria Syndrome
Alopecia, Angina pectoris, Myocardial infarction, Congestive heart failure, Growth delay OMIM:176670
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Alopecia, Retinal dystrophy, Optic nerve hypoplasia, Short stature, Optic atrophy, Abdominal obes... OMIM:619321
Microphthalmia, Isolated 8
Retinal detachment, Anophthalmia, Optic nerve hypoplasia, Hypoplastic optic chiasm, Retinal colob... OMIM:615113
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome
Alopecia, Short stature, Upper motor neuron dysfunction, Delayed puberty OMIM:612079
Chromosome 19Q13.11 Deletion Syndrome, Distal
Sparse eyelashes, Short stature, Sparse eyebrow, Postnatal growth retardation, Growth delay, Abno... OMIM:613026
Hallermann-Streiff Syndrome
Alopecia, Sparse eyelashes, Proportionate short stature, Abnormality of hair texture, Sparse eyeb... ORPHA:2108
Carnitine Palmitoyltransferase I Deficiency
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating aspartate aminotransferase conc... OMIM:255120
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections
Atrial septal defect, Alopecia, Pulmonic stenosis OMIM:618282
Phace Syndrome
Optic nerve hypoplasia, Hemiplegia/hemiparesis, Lens coloboma, Abnormal heart morphology, Seizure... ORPHA:42775
Orofaciodigital Syndrome Type 1
Elevated hepatic transaminase, Alopecia, Brittle hair, Ataxia, Tremor, Hypertension, Coarse hair,... ORPHA:2750
Rhombencephalosynapsis
Fusion of the cerebellar hemispheres, Septo-optic dysplasia, Agenesis of cerebellar vermis, Ataxi... ORPHA:59315
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular hypertrophy, Hepatomegaly, Transient ischemic attack, Cardiac arrest, Sudden cardiac ... OMIM:115197
Gapo Syndrome
Hepatomegaly, Alopecia, Sparse eyelashes, Facial palsy, Sparse eyebrow, Retinal arteriolar tortuo... OMIM:230740
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Hepatomegaly, Alopecia, Sparse eyelashes, Thick hair, Portal hypertension, Sparse eyebrow, Spleno... OMIM:607626
Focal Dermal Hypoplasia
Acute hepatic failure, Alopecia, Telangiectasia of the skin, Ventricular septal defect, Patent du... ORPHA:2092
Weaver Syndrome
Deep-set nails, Bilateral tonic-clonic seizure, Thin nail, Patent ductus arteriosus, Slurred spee... OMIM:277590
Chanarin-Dorfman Syndrome
Hepatomegaly, Alopecia, Ataxia OMIM:275630
Oculodentodigital Dysplasia
Atrial septal defect, Dry hair, Ataxia, Slow-growing hair, Paraparesis, Spasticity, Fine hair, Se... OMIM:164200
Agel Amyloidosis
Ataxia, Facial palsy, Cardiomyopathy, Nail dystrophy, Sparse hair, Arrhythmia, Orthostatic hypote... ORPHA:85448
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Ventricular septal defect, Small for gestational age, Cardiomegaly, Cerebellar hypoplasia, Intrau... OMIM:616897
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1
Cerebellar edema, Torticollis, Ataxia, Tremor, Rigidity, Myoclonic seizure, Seizure, Tetraparesis... OMIM:617186
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Alopecia, Cachexia, Hematochezia, Paresthesia, Nail dystrophy, Nail dysplasia OMIM:175500
Neurodegeneration And Seizures Due To Copper Transport Defect
Cerebellar atrophy, Tricuspid regurgitation, Cardiomegaly, Cerebral atrophy, Seizure, Focal impai... OMIM:620306
Niemann-Pick Disease Type C
Generalized-onset seizure, Tremor, Chorea, Abnormal pyramidal sign, Progressive gait ataxia, Limb... ORPHA:646
Odontoonychodermal Dysplasia
Ridged nail, Sparse scalp hair, Dry hair, Thin nail, Short nail, Sparse eyebrow, Fine hair, Nail ... OMIM:257980
Friedreich Ataxia 2
Impaired vibratory sensation, Abnormal EKG, Abnormal medulla oblongata morphology, Ataxia, Incoor... OMIM:601992
Cantu Syndrome
Bicuspid aortic valve, Curly eyelashes, Large for gestational age, Cardiomegaly, Pericardial effu... OMIM:239850
Braddock-Carey Syndrome 1
Curly hair, Aortic valve prolapse, Ventricular septal defect, Spastic diplegia, Growth delay, Spa... OMIM:619980
Sporadic Pheochromocytoma/Secreting Paraganglioma
Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Hypertensive retinopathy, Cerebral... ORPHA:276621
Gapo Syndrome
Alopecia, Sparse eyelashes, Short stature, Sparse eyebrow, Early balding, Optic atrophy, Growth d... ORPHA:2067
Cartilage-Hair Hypoplasia
Abnormality of retinal pigmentation, Hepatomegaly, Abnormality of chromosome stability, Aganglion... ORPHA:175
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Bicuspid aortic valve, Ventricular septal defect, Supernumerary nipple, Impaired pain sensation, ... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Bicuspid aortic valve, Ventricular septal defect, Supernumerary nipple, Impaired pain sensation, ... ORPHA:352665
Triosephosphate Isomerase Deficiency
Optic disc pallor, Dystonia, Tremor, Congestive heart failure, Jaundice, Splenomegaly, Unsteady g... OMIM:615512
Juvenile Dermatomyositis
Gastrointestinal hemorrhage, Bundle branch block, Pericarditis, Alopecia, Angina pectoris, Telang... ORPHA:93672
8Q24.3 Microdeletion Syndrome
Gastrointestinal hemorrhage, Thick eyebrow, Infancy onset short-trunk short stature, Small for ge... ORPHA:508488
19Q13.11 Microdeletion Syndrome
Ventricular septal defect, Cachexia, Supernumerary nipple, Fine hair, Growth delay, Sparse or abs... ORPHA:217346
Retinitis Pigmentosa 77
Bone spicule pigmentation of the retina, Retinal atrophy, Rod-cone dystrophy, Cystoid macular ede... OMIM:617304
Danon Disease
Wolff-Parkinson-White syndrome, Myocardial necrosis, Elevated circulating creatine kinase concent... OMIM:300257
X-Linked Agammaglobulinemia
Alopecia, Short stature, Hepatitis, Weight loss, Failure to thrive ORPHA:47
Retinitis Pigmentosa 84
Bone spicule pigmentation of the retina, Macular atrophy, Macular coloboma, Rod-cone dystrophy, A... OMIM:618220
Mosaic Variegated Aneuploidy Syndrome 2
Aortic regurgitation, Small for gestational age, Ventricular septal defect, Short stature, Rhizom... OMIM:614114
Abnormal Hair, Joint Laxity, And Developmental Delay
Alopecia, Tricuspid regurgitation, Trichorrhexis nodosa, Sinus bradycardia, Mitral regurgitation,... OMIM:261990
Trichohepatoenteric Syndrome 1
Aortic regurgitation, Curly hair, Hepatomegaly, Brittle hair, Small for gestational age, Ventricu... OMIM:222470
Sézary Syndrome
Hepatomegaly, Alopecia, Tremor, Splenomegaly, Nail dystrophy ORPHA:3162
Cirrhotic Cardiomyopathy
Prolonged QT interval, Hepatomegaly, Elevated jugular venous pressure, Left atrial enlargement, C... ORPHA:57777
Myhre Syndrome
Atrial septal defect, Ataxia, Small for gestational age, Ventricular septal defect, Short stature... OMIM:139210
Familial Atrial Myxoma
Tricuspid regurgitation, Cardiomegaly, Congestive heart failure, Jaundice, Pulmonic valve myxoma,... ORPHA:615
Wiedemann-Rautenstrauch Syndrome
Optic disc hypoplasia, Tremor, Synophrys, Congenital malformation of the left heart, Chiari type ... ORPHA:3455
Complete Atrioventricular Septal Defect
Cardiomegaly, Atrioventricular block, Primum atrial septal defect, Displacement of the papillary ... ORPHA:1329
Pigmented Nodular Adrenocortical Disease, Primary, 4
Hypertension, Alopecia, Increased body weight, Hirsutism OMIM:615830
Lethal Acantholytic Erosive Disorder
Absent eyebrow, Cardiomegaly, Absent eyelashes, Impaired myocardial contractility, Hypovolemic sh... ORPHA:158687
Spastic Paraplegia 9B, Autosomal Recessive
Short stature, Corpus callosum atrophy, Tremor, Impaired distal vibration sensation, Babinski sig... OMIM:616586
Pseudoxanthoma Elasticum, Forme Fruste
Gastrointestinal hemorrhage, Angina pectoris, Cerebral hemorrhage, Retinal hemorrhage, Angioid st... OMIM:177850
Congenital Disorder Of Glycosylation, Type It
Elevated hepatic transaminase, Hepatomegaly, Tachycardia, Ventricular septal defect, Elevated cir... OMIM:614921
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Pituitary dwarfism, Optic nerve hypoplasia, Overweight, Abnormal cerebellum morphology, Growth de... ORPHA:226307
Ichthyosis, Spastic Quadriplegia, And Impaired Intellectual Development
Spastic tetraplegia, Growth delay, Seizure, Abnormality of visual evoked potentials, Brain atroph... OMIM:614457
Multiple System Atrophy 1, Susceptibility To
Orthostatic hypotension, Ataxia, Parkinsonism, Tremor, Rigidity, Babinski sign, Bradykinesia, Neu... OMIM:146500
Bone Marrow Failure Syndrome 3
Chromosome breakage, Retinal dystrophy, Short stature, Nail dystrophy, Small nail, Retinal dyspla... OMIM:617052
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Sparse scalp hair, Failure to thrive, Hepatomegaly, Ataxia, Retinal dystrophy, Short stature, Rhi... OMIM:266920
Pseudo-Torch Syndrome 3
Cerebral hemorrhage, Cardiomegaly, Hypertension, Seizure, Cerebellar hypoplasia OMIM:618886
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Alopecia, Chronic active hepatitis, Perifoveal ring of hyperautofluorescence, Pigmentary retinopa... OMIM:240300
Satoyoshi Syndrome
Alopecia, Short stature, Mildly elevated creatine kinase, Alopecia universalis OMIM:600705
Retinitis Pigmentosa 10
Optic disc pallor, Bone spicule pigmentation of the retina, Bull's eye maculopathy, Geographic at... OMIM:180105
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hepatomegaly, Bilateral tonic-clonic seizure, Elevated circulating creatine kinase concentration,... OMIM:201475
Frontonasal Dysplasia 2
Agenesis of cerebellar vermis, Cerebellar vermis hypoplasia, Sparse eyelashes, Alopecia totalis, ... OMIM:613451
Tetanus
Tachycardia, Elevated circulating creatine kinase concentration, Tremor, Rigidity, Opisthotonus, ... ORPHA:3299
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Speech apraxia, Ataxia, Left ventricular noncompaction cardiomyopathy, Ventricular septal defect,... OMIM:300967
Ectodermal Dysplasia 10B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive
Sparse hair, Sparse eyelashes, Sparse eyebrow OMIM:224900
Cerebrooculofacioskeletal Syndrome 2
Small for gestational age, Growth delay, Sparse hair, Intrauterine growth retardation, Microphtha... OMIM:610756
Stromme Syndrome
Cerebellar vermis hypoplasia, Optic nerve hypoplasia, Cerebellar hypoplasia, Retinal vascular tor... OMIM:243605
Mixed Connective Tissue Disease
Gastrointestinal hemorrhage, Hepatomegaly, Pericarditis, Alopecia, Myocarditis, Splenomegaly, Sei... ORPHA:809
Noonan Syndrome 14
Aortic regurgitation, Curly hair, Short stature, Sparse eyebrow, Low posterior hairline, Mitral v... OMIM:619745
Chondrodysplasia Punctata 2, X-Linked Dominant
Sparse eyelashes, Rhizomelia, Sparse eyebrow, Postnatal growth retardation, Patchy alopecia, Spar... OMIM:302960
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating aspartate aminotransferase conc... OMIM:608836
Goldberg-Shprintzen Syndrome
Aortic regurgitation, Ventricular septal defect, Aganglionic megacolon, Highly arched eyebrow, Sy... OMIM:609460
Dyskeratosis Congenita, X-Linked
Ridged nail, Split nail, Alopecia, Ataxia, Sparse eyelashes, Short stature, Pterygium of nails, O... OMIM:305000
Costello Syndrome
Deep-set nails, Curly hair, Atrial septal defect, Ventricular septal defect, Thin nail, Short sta... OMIM:218040
Tetrasomy 12P
Sparse hair, Sparse eyebrow ORPHA:884
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Cerebellar vermis hypoplasia, Bicuspid aortic valve, Generalized-onset seizure, Tremor, Low anter... OMIM:220111
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Small for gestational age, Short stature, Cardiomegaly, Postnatal growth retardation, Hypertensio... OMIM:613320
Leukoencephalopathy-Spondyloepimetaphyseal Dysplasia Syndrome
Tremor, Babinski sign, Spastic paraplegia, Cerebral atrophy, Tip-toe gait, Abnormal optic nerve m... ORPHA:83629
Orofaciodigital Syndrome Type 6
Cerebellar vermis hypoplasia, Ataxia, Short stature, Highly arched eyebrow, Tremor, Abnormality o... ORPHA:2754
Lamellar Ichthyosis
Sparse hair, Abnormality of the nail, Aplasia/Hypoplasia of the eyebrow ORPHA:313
Kdm5C-Related Syndromic X-Linked Intellectual Disability
Seizure, Spasticity, Patchy alopecia, Short stature ORPHA:85279
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type
Pain insensitivity, Short stature, Tonic seizure, Babinski sign, Seizure, Lower limb hypertonia, ... OMIM:300534
Microphthalmia, Syndromic 5
Anophthalmia, Retinal dystrophy, Optic nerve hypoplasia, Short stature, Seizure, Microphthalmia OMIM:610125
Lipodystrophy, Familial Partial, Type 7
Sparse scalp hair, Orthostatic hypotension, Small for gestational age, Clonus, Babinski sign, Dys... OMIM:606721
Congenital Ichthyosiform Erythroderma
Alopecia, Failure to thrive, Short stature, Abnormality of the nail ORPHA:79394
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2
Ataxia, Small for gestational age, Tremor, Growth delay, Hypertension, Seizure, Arrhythmia, Intra... OMIM:614052
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Abnormal circulating enzyme concentration or activity, Hepatomegaly, Elevated circulating creatin... ORPHA:308552
Johanson-Blizzard Syndrome
Alopecia, Short stature, Dextrocardia, Abnormal hair pattern, Abnormal cardiac septum morphology,... ORPHA:2315
Senior-Loken Syndrome 9
Macular degeneration, Rod-cone dystrophy, Retinal dystrophy, Obesity OMIM:616629
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate
Sparse eyelashes, Hyperconvex nail, Supernumerary nipple, Absent eyelashes, Patchy alopecia, Nail... OMIM:106260
Chilton-Okur-Chung Neurodevelopmental Syndrome
Sparse scalp hair, Septo-optic dysplasia, Cerebellar vermis hypoplasia, Short stature, Epistaxis,... OMIM:619841
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Cerebellar vermis hypoplasia, Microlissencephaly, Atrial septal defect, Sparse hair, Pachygyria, ... OMIM:210710
Trichorhinophalangeal Syndrome, Type I
Slow-growing hair, Thin nail, Concave nail, Leukonychia, Fine hair, Thin eyebrow, Sparse hair, Sp... OMIM:190350
Hereditary Pheochromocytoma-Paraganglioma
Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Hypertensive retinopathy, Cerebral... ORPHA:29072
Systemic Sclerosis
Pericarditis, Alopecia, Nail bed telangiectasia, Elevated circulating creatine kinase concentrati... ORPHA:90291
Chromosome Xq27.3-Q28 Duplication Syndrome
Sparse body hair OMIM:300869
Trichorhinophalangeal Syndrome Type 1
Sparse eyelashes, Sparse eyebrow, Leukonychia, Sparse hair, Fragile nails ORPHA:77258
Rothmund-Thomson Syndrome, Type 2
Absent eyebrow, Alopecia, Sparse scalp hair, Small for gestational age, Sparse eyelashes, Short s... OMIM:268400
Vitamin D-Dependent Rickets, Type 2A
Growth delay, Elevated circulating alkaline phosphatase concentration, Hypocalcemic seizures, Dif... OMIM:277440
Mucoepithelial Dysplasia, Hereditary
Alopecia, Cor pulmonale, Melena, Coarse hair, Nail dystrophy, Nail dysplasia, Sparse hair, Chroni... OMIM:158310
Fucosidosis
Hepatomegaly, Short stature, Cardiomegaly, Splenomegaly, Spastic tetraplegia, Cerebral atrophy, S... OMIM:230000
Osteopetrosis With Renal Tubular Acidosis
Abnormal circulating enzyme concentration or activity, Hepatomegaly, Retinal atrophy, Short statu... ORPHA:2785
Parkinson Disease 14, Autosomal Recessive
Eyelid apraxia, Axial dystonia, Resting tremor, Elevated circulating creatine kinase concentratio... OMIM:612953
Metachromatic Leukodystrophy
Abnormal circulating enzyme concentration or activity, Incoordination, Ataxia, Decreased nerve co... ORPHA:512
Retinitis Pigmentosa 41
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Pigmentary reti... OMIM:612095
Adams-Oliver Syndrome 1
Alopecia, Bicuspid aortic valve, Ventricular septal defect, Supernumerary nipple, Pachygyria, Hyp... OMIM:100300
Spondylodysplastic Ehlers-Danlos Syndrome
Sparse scalp hair, Abnormal heart valve morphology, Optic nerve hypoplasia, Short stature, Optic ... ORPHA:536471
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Lower limb spasticity, Broad-based gait, Ventricular septal defect, Postnatal growth retardation,... ORPHA:251028
Retinitis Pigmentosa 56
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, P... OMIM:613581
Retinitis Pigmentosa 86
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, N... OMIM:618613
Aniridia 1
Hypoplasia of the fovea, Optic nerve hypoplasia, Hypoplasia of the iris, Chorioretinal hypopigmen... OMIM:106210
Mandibulofacial Dysostosis With Alopecia
Bicuspid aortic valve, Alopecia, Sparse eyelashes OMIM:616367
H Syndrome
Abnormal eyebrow morphology, Alopecia, Short stature, Abnormal cardiovascular system physiology, ... ORPHA:168569
Acrodermatitis Enteropathica
Ridged nail, Abnormal eyebrow morphology, Alopecia, Short stature, Paronychia, Weight loss, Abnor... ORPHA:37
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency
Alopecia, Cerebral palsy, Opisthotonus, Seizure, Propionyl-CoA carboxylase deficiency, Failure to... OMIM:210210
Chromosome 5P13 Duplication Syndrome
Sparse hair, Seizure, Small for gestational age, Low posterior hairline OMIM:613174
Marshall Syndrome
Retinal detachment, Sparse eyelashes, Short stature, Sparse eyebrow, Abnormal vitreous humor morp... ORPHA:560
Kid Syndrome
Cerebellar vermis hypoplasia, Sparse eyelashes, Sparse eyebrow, Scarring alopecia of scalp, Postn... ORPHA:477
Isolated Right Ventricular Hypoplasia
Tricuspid regurgitation, Abnormal atrioventricular conduction, Right ventricular failure, Cardiom... ORPHA:439
Short Syndrome
Alopecia, Severe short stature, Weight loss, Hypoplasia of the iris, Sparse hair ORPHA:3163
Ataxia-Telangiectasia
Conjunctival telangiectasia, Dystonia, Ataxia, Short stature, Abnormal hair morphology, Tremor, I... OMIM:208900
Hypotrichosis-Lymphedema-Telangiectasia Syndrome
Sparse scalp hair, Alopecia, Absent eyebrow, Abnormal sweat gland morphology, Absent eyelashes, P... OMIM:607823
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Absent eyebrow, Alopecia, Sparse scalp hair, Sparse eyelashes, Absent eyelashes, Telangiectasia o... OMIM:137940
Tooth Agenesis, Selective, 4
Sparse scalp hair, Sparse eyebrow, Short eyelashes, Dystrophic fingernails, Sparse body hair, Dys... OMIM:150400
Systemic Lupus Erythematosus
Alopecia, Raynaud phenomenon, Chorea, Hypertension, Seizure, Retinopathy ORPHA:536
Fanconi Anemia, Complementation Group E
Short stature, Small for gestational age, Prolonged G2 phase of cell cycle, Abnormal heart morpho... OMIM:600901
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques
Sparse hair, Alopecia, Abnormal fingernail morphology ORPHA:659
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome
Alopecia, Severe short stature, Moderate postnatal growth retardation, Sparse hair, Intrauterine ... ORPHA:1005
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome
Freezing of gait, Akinesia, Tremor, Rigidity, Unsteady gait, Blepharospasm, Spastic dysarthria, B... ORPHA:240094
Aicardi-Goutières Syndrome
Cardiomegaly, Tremor, Abnormal pyramidal sign, Hypertonia, Extrapyramidal muscular rigidity, Shor... ORPHA:51
Sting-Associated Vasculopathy, Infantile-Onset
Nailfold capillary tortuosity, Raynaud phenomenon, Telangiectasia, Nail dystrophy, Periungual ery... OMIM:615934
46,Xy Sex Reversal 6
Hirsutism, Sparse axillary hair OMIM:613762
Glycogen Storage Disease Ii
Wolff-Parkinson-White syndrome, Hepatomegaly, Right axis deviation, Elevated circulating creatine... OMIM:232300
Knobloch Syndrome
Retinal detachment, Dextrocardia, Abnormal hair morphology, Patent ductus arteriosus, Abnormal vi... ORPHA:1571
Dyskeratosis Congenita
Abnormal eyebrow morphology, Alopecia, Hepatomegaly, Telangiectasia of the skin, Abnormal fingern... ORPHA:1775
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Absent eyebrow, Alopecia, Subungual hyperkeratosis, Sparse scalp hair, Atrial septal defect, Agan... OMIM:308205
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1
Aortic regurgitation, Curly hair, Sparse scalp hair, Atrial septal defect, Ventricular septal def... OMIM:607721
Borjeson-Forssman-Lehmann Syndrome
Short stature, Truncal obesity, Seizure, Sparse hair, Thick eyebrow ORPHA:127
Linear Nevus Sebaceus Syndrome
Alopecia, Growth delay, Seizure, Aplasia/Hypoplasia of the cerebellum, Microphthalmia, Dandy-Walk... ORPHA:2612
Fanconi Anemia, Complementation Group A
Short stature, Small for gestational age, Prolonged G2 phase of cell cycle, Abnormal heart morpho... OMIM:227650
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant
Alopecia, Sparse eyelashes, Sparse eyebrow, Scarring alopecia of scalp, Nail dystrophy, Nail dysp... OMIM:612843
Alexander Disease
Ataxia, Facial palsy, Sudden cardiac death, Clonus, Tremor, Chorea, Abnormal pyramidal sign, Tetr... ORPHA:58
Ichthyosis, Congenital, Autosomal Recessive 2
Alopecia, Thin nail, Paralysis, Abnormal hair morphology, Growth delay, Small nail OMIM:242100
Sympathetic Ophthalmia
Papilledema, Alopecia, Retinal detachment, Poliosis, Vitreous floaters, Vitritis, Retinal hemorrh... ORPHA:79098
Ane Syndrome
Motor neuron atrophy, Alopecia, Short stature, Delayed puberty ORPHA:157954
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Abnormal hair whorl, Seizure, Optic nerve hypoplasia, Olivopontocerebellar hypoplasia ORPHA:457284
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome
Abnormality of visual evoked potentials, Hypertonia, Short stature, Cachexia ORPHA:1389
Leprosy
Absent eyebrow, Alopecia, Epistaxis, Impaired temperature sensation, Dysesthesia, Dissociated sen... ORPHA:548
Hawkinsinuria
Sparse hair OMIM:140350
Retinitis Punctata Albescens
Retinal atrophy, Macular atrophy, Retinal pigment epithelial mottling, Absent foveal reflex, Pigm... ORPHA:52427
Steinert Myotonic Dystrophy
Elevated hepatic transaminase, Alopecia, Atrial fibrillation, Prolonged QRS complex, Left ventric... ORPHA:273
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1
Cerebellar atrophy, Large for gestational age, Tremor, Patent ductus arteriosus, Cerebral atrophy... OMIM:614080
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Sparse hair, Failure to thrive, Nail dystrophy, Growth delay ORPHA:98813
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Pain insensitivity, Cerebellar vermis hypoplasia, Ventricular septal defect, Optic nerve hypoplas... OMIM:620330
Retinitis Pigmentosa 58
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro... OMIM:613617
Combined Oxidative Phosphorylation Deficiency 33
Elevated hepatic transaminase, Hepatomegaly, Cardiac arrest, Elevated circulating creatine kinase... OMIM:617713
Fanconi Anemia, Complementation Group C
Ventricular septal defect, Short stature, Small for gestational age, Prolonged G2 phase of cell c... OMIM:227645
Omenn Syndrome
Hepatomegaly, Alopecia, Splenomegaly, Failure to thrive, Aplasia/Hypoplasia of the eyebrow ORPHA:39041
Lmna-Related Cardiocutaneous Progeria Syndrome
Ventricular hypertrophy, Absent eyebrow, Mitral valve calcification, Absent eyelashes, Congestive... ORPHA:363618
Say-Barber-Miller Syndrome
Short stature, Abnormality of the hairline, Highly arched eyebrow, Sparse eyebrow, Babinski sign,... ORPHA:3132
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Hepatomegaly, Failure to thrive, Ataxia, Short stature, Tremor, Splenomegaly, Paronychia, Low alk... OMIM:201100
Late-Onset Retinal Degeneration
Multifocal subretinal deposits, Choroidal neovascularization, Macular atrophy, Drusen, Patchy atr... ORPHA:67042
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked
Absent eyebrow, Brittle hair, Absent nipple, Sparse eyelashes, Concave nail, Absent eyelashes, Sp... OMIM:305100
Macs Syndrome
Alopecia, Short stature, Sparse eyebrow, Decreased body weight, Sparse hair OMIM:613075
Tick-Borne Encephalitis
Elevated hepatic transaminase, Speech apraxia, Somatic sensory dysfunction, Abnormal medulla oblo... ORPHA:297
Atypical Progressive Supranuclear Palsy Syndrome
Speech apraxia, Freezing of gait, Extrapyramidal muscular rigidity, Parkinsonism, Tremor, Rigidit... ORPHA:99750
Alopecia-Intellectual Disability Syndrome 4
Seizure, Alopecia OMIM:618840
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Jaundice, Pulmonary insufficiency, Short stature, Retinal degeneration OMIM:208500
Craniosynostosis 4
Chiari type I malformation, Optic nerve hypoplasia OMIM:600775
Fanconi Anemia, Complementation Group D2
Small for gestational age, Short stature, Patent ductus arteriosus, Prolonged G2 phase of cell cy... OMIM:227646
Trichorhinophalangeal Syndrome, Type Iii
Sparse hair, Sparse lateral eyebrow OMIM:190351
Gaucher Disease, Type I
Hepatomegaly, Epistaxis, Macular atrophy, Splenomegaly, Hypertension, Mitral regurgitation, Pulmo... OMIM:230800
Hermansky-Pudlak Syndrome
Gastrointestinal hemorrhage, Hypopigmentation of hair, Epistaxis, Ocular albinism, Weight loss, C... ORPHA:79430
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features
Optic disc pallor, Ataxia, Tremor, Babinski sign, Spastic paraplegia, Dysmetria, Spasticity OMIM:618527
Maternal Uniparental Disomy Of Chromosome 2
Postnatal growth retardation, Intrauterine growth retardation, Retinal degeneration ORPHA:96179
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia
Bicuspid aortic valve, Short stature, Highly arched eyebrow, Postnatal growth retardation, Spleno... OMIM:613563
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Decreased methionine synthase activity, Tremor, Pigmentary retinopathy, Seizure, Abnormality of e... OMIM:277400
Ectodermal Dysplasia-Blindness Syndrome
Sparse hair, Abnormal fingernail morphology, Fine hair ORPHA:1806
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome
Cerebellar atrophy, Tremor, Patent ductus arteriosus, Partial absence of cerebellar vermis, Synop... ORPHA:280633
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Cone/cone-rod dystrophy, Abnormality of retinal pigmentation, Retinal atrophy, Retinal thinning, ... ORPHA:85167
Aniridia-Intellectual Disability Syndrome
Aniridia, Optic nerve hypoplasia ORPHA:1068
Premature Aging Syndrome, Penttinen Type
Hypermyelinated retinal nerve fibers, Retrocerebellar cyst, Sparse hair, Microphthalmia, Failure ... OMIM:601812
Fumarase Deficiency
Decreased fumarate hydratase activity, Intrahepatic cholestasis, Optic atrophy, Cerebral atrophy,... OMIM:606812
Arterial Calcification, Generalized, Of Infancy, 2
Tricuspid regurgitation, Myocardial infarction, Cardiomegaly, Congestive heart failure, Hypertens... OMIM:614473
Immunodeficiency, Common Variable, 10
Chiari type I malformation, Trachyonychia, Alopecia totalis OMIM:615577
Heterotaxy, Visceral, 1, X-Linked
Cardiomegaly, Hypoplastic toenails, Dextrotransposition of the great arteries, Atrial septal defe... OMIM:306955
Cantú Syndrome
Abnormal heart valve morphology, Curly eyelashes, Cardiomegaly, Patent ductus arteriosus, Low ant... ORPHA:1517
Kaufman Oculocerebrofacial Syndrome
Atrial septal defect, Optic disc pallor, Ventricular septal defect, Short stature, Sparse eyebrow... OMIM:244450
Intellectual Developmental Disorder, Autosomal Dominant 66
Infantile spasms, Secundum atrial septal defect, Seizure, Transposition of the great arteries, Sp... OMIM:619910
Serotonin Syndrome
Tachycardia, Clonus, Tremor, Rigidity, Hypertension, Seizure, Hypertonia, Myoclonus, Hypotension,... ORPHA:43116
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Alopecia, Increased body weight, Hypertension, Abdominal obesity, Neuroendocrine neoplasm, Hirsutism ORPHA:189427
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Seizure, Alopecia, Failure to thrive, Hepatitis OMIM:304790
Retinitis Pigmentosa 23
Rod-cone dystrophy, Retinal pigment epithelial atrophy, Absent foveal reflex, Attenuation of reti... OMIM:300424
Scorpion Envenomation
Bundle branch block, Tremor, Prominent U wave, Hemifacial spasm, Ataxia, Elevated circulating asp... ORPHA:466677
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome
Sparse body hair ORPHA:2234
Acute Zonal Occult Outer Retinopathy
Macular drusen, Retinal pigment epithelial atrophy, Abnormal retinal vascular morphology, Retinal... ORPHA:284454
Glycogen Storage Disease Due To Acid Maltase Deficiency
Abnormal circulating enzyme concentration or activity, Hepatomegaly, Transient ischemic attack, E... ORPHA:365
Lichen Planopilaris
Alopecia, Onycholysis, Abnormal fingernail morphology, Hepatitis ORPHA:525
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Alopecia, Elevated circulating alkaline phosphatase concentration OMIM:600785
Aredyld Syndrome
Hepatomegaly, Short stature, Cachexia, Splenomegaly, Intrauterine growth retardation, Sparse body... ORPHA:1133
Methylmalonic Aciduria And Homocystinuria, Cbld Type
Spastic ataxia, Decreased methionine synthase activity, Seizure, Dystonia, Decreased methylmalony... OMIM:277410
Glass Syndrome
Broad-based gait, Bilateral tonic-clonic seizure, Short stature, Seizure, Long eyelashes, Nail dy... OMIM:612313
Symptomatic Form Of Hfe-Related Hemochromatosis
Hepatomegaly, Portal hypertension, Cardiomegaly, Congestive heart failure, Splenomegaly, Weight l... ORPHA:465508
Cartilage-Hair Hypoplasia
Sparse eyelashes, Sparse facial hair, Sparse eyebrow, Fine hair, Sparse hair, Fair hair OMIM:250250
Down Syndrome
Aganglionic megacolon, Impaired pain sensation, Obesity, Gait disturbance, Sparse hair ORPHA:870
Colchicine Poisoning
Alopecia, Myocarditis, Congestive heart failure, Hypovolemia, Hypotension, Cardiogenic shock, Arr... ORPHA:31824
Gaucher Disease
Tremor, Cherry red spot of the macula, Hepatomegaly, Ataxia, Abnormal pericardium morphology, Sho... ORPHA:355
Wiedemann-Rautenstrauch Syndrome
Sparse scalp hair, Broad eyebrow, Absent eyebrow, Small for gestational age, Alopecia, Sparse eye... OMIM:264090
Kikuchi-Fujimoto Disease
Elevated hepatic transaminase, Hepatomegaly, Alopecia, Ataxia, Myocarditis, Splenomegaly, Vasculi... ORPHA:50918
Retinitis Pigmentosa 60
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R... OMIM:613983
Nicolaides-Baraitser Syndrome
Absent eyebrow, Dry hair, Sparse scalp hair, Short stature, Sparse medial eyebrow, Low anterior h... OMIM:601358
Holoprosencephaly 13, X-Linked
Septo-optic dysplasia, Ventricular septal defect, Optic nerve hypoplasia, Patent ductus arteriosu... OMIM:301043
Papillon-Lefèvre Syndrome
Abnormal fingernail morphology, Nail dystrophy, Abnormality of the nail, Sparse body hair, Genera... ORPHA:678
Hamamy Syndrome
Atrial septal defect, Prolonged QRS complex, Sparse eyelashes, Sparse eyebrow, Complete atriovent... OMIM:611174
Oculopharyngodistal Myopathy 1
Paroxysmal atrial fibrillation, Ataxia, Facial palsy, Elevated circulating creatine kinase concen... OMIM:164310
Ichthyosis With Alopecia, Eclabium, Ectropion, And Mental Retardation
Alopecia OMIM:242510
Mandibuloacral Dysplasia
Sparse hair, Alopecia, Postnatal growth retardation, Hypoplastic fingernail ORPHA:2457
Kniest Dysplasia
Retinal detachment, Rhegmatogenous retinal detachment, Aplasia/Hypoplasia of the lens, Lattice re... ORPHA:485
Leber Congenital Amaurosis 15
Optic disc pallor, Pigmentary retinopathy, Peripapillary atrophy, Dull foveal reflex, Retinal deg... OMIM:613843
Cone-Rod Dystrophy 8
Cone/cone-rod dystrophy, Abnormality of retinal pigmentation, Macular degeneration, Retinal arter... OMIM:605549
Hutchinson-Gilford Progeria Syndrome
Myocardial infarction, Intracranial hemorrhage, Dystrophic fingernails, Absent eyebrow, Abnormal ... ORPHA:740
Hypocalcemic Vitamin D-Resistant Rickets
Alopecia, Short stature, Gait disturbance ORPHA:93160
Cone-Rod Dystrophy 2
Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Retinal pigment epithelial atro... OMIM:120970
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Alopecia, Short stature, Intracranial hemorrhage, Hypertension, Hirsutism, Decreased circulating ... ORPHA:90795
Exudative Vitreoretinopathy 6
Retinal detachment, Tractional retinal detachment, Patchy atrophy of the retinal pigment epitheli... OMIM:616468
Ruvalcaba Syndrome
Seizure, Delayed puberty, Abnormality of visual evoked potentials, Intrauterine growth retardatio... ORPHA:3121
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome
Sparse eyelashes, Hyperconvex nail, Supernumerary nipple, Sparse eyebrow, Hyperconvex fingernails... ORPHA:1071
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Obesity, Cardiomegaly ORPHA:88643
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Absent eyebrow, Alopecia, Thin fingernail, Aganglionic megacolon, Severe short stature, Abnormal ... ORPHA:2273
Pachyonychia Congenita
Alopecia, Paronychia, Onychogryposis of toenails, Fingernail dysplasia, Nail dystrophy, Failure t... ORPHA:2309
Idiopathic Pulmonary Hemosiderosis
Hepatomegaly, Cardiomegaly, Diffuse alveolar hemorrhage, Heart murmur, Hepatosplenomegaly, Failur... ORPHA:99931
Teebi-Shaltout Syndrome
Slow-growing hair, Ventricular septal defect, Highly arched eyebrow, Short stature, Low anterior ... OMIM:272950
Ogden Syndrome
Generalized-onset seizure, Bicuspid aortic valve, Cardiomegaly, Secundum atrial septal defect, Ve... OMIM:300855
Immunodeficiency, Common Variable, 12, With Autoimmunity
Alopecia OMIM:616576
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Alopecia, Alopecia totalis, Generalized non-motor (absence) seizure, Nail dystrophy, Hypotension,... ORPHA:293978
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Alopecia, Failure to thrive, Hepatosplenomegaly ORPHA:169154
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Elevated hepatic transaminase, Atrial septal defect, Portal hypertension, Patent ductus arteriosu... OMIM:620005
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Atrial septal defect, Absent nipple, Short stature, Facial palsy, Sparse eyebrow, Microphthalmia,... OMIM:620186
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Eunuchoid habitus, Cardiomegaly, Synophrys, Low posterior hairline, Subcortical cerebral atrophy,... ORPHA:2463
Menkes Disease
Gastrointestinal hemorrhage, Hypopigmentation of hair, Chorea, Intracranial hemorrhage, Seizure, ... ORPHA:565
Ruijs-Aalfs Syndrome
Premature graying of hair, Sparse hair OMIM:616200
Chime Syndrome
Ventricular septal defect, Pulmonary valve atresia, Fine hair, Seizure, Retinal coloboma, Transpo... ORPHA:3474
Autosomal Recessive Malignant Osteopetrosis
Hepatomegaly, Abnormal pulmonary valve morphology, Abnormality of hair texture, Tremor, Splenomeg... ORPHA:667
Tropical Endomyocardial Fibrosis
Prolonged QRS complex, Restrictive cardiomyopathy, Cardiomegaly, Atrioventricular block, Left bun... ORPHA:75565
Fibrodysplasia Ossificans Progressiva
Alopecia, Elevated circulating alkaline phosphatase concentration OMIM:135100
Cocaine Intoxication
Prolonged QRS complex, Elevated circulating creatine kinase concentration, Myocardial infarction,... ORPHA:90068
Chondrodysplasia Punctata, Autosomal Dominant
Sparse hair, Coarse hair OMIM:118650
Mandibuloacral Dysplasia With Type B Lipodystrophy
Sparse hair, Alopecia, Brittle hair, Growth delay OMIM:608612
Cancer-Associated Retinopathy
Optic disc pallor, Retinal atrophy, Retinal pigment epithelial atrophy, Foveal hyporeflective spa... ORPHA:71505
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Sparse hair, Aplasia/Hypoplasia of the eyebrow, Nail dysplasia, Fine hair OMIM:614091
Phosphoribosylpyrophosphate Synthetase Superactivity
Peripheral axonal neuropathy, Small for gestational age, Short stature, Ataxia, Sparse hair, Incr... OMIM:300661
Congenital Tricuspid Valve Dysplasia
Hepatomegaly, Tricuspid regurgitation, Small for gestational age, Cardiomegaly, Pericardial effus... ORPHA:555874
Congenital Fibrosis Of Extraocular Muscles
Torticollis, Polymicrogyria, Optic nerve hypoplasia ORPHA:45358
Cone-Rod Dystrophy 10
Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of... OMIM:610283
Schimmelpenning-Feuerstein-Mims Syndrome
Growth delay, Seizure, Alopecia, Short stature OMIM:163200
Familial Aortic Dissection
Aortic regurgitation, Patent ductus arteriosus, Abnormal left ventricular function, Cardiomegaly ORPHA:229
Wrinkly Skin Syndrome
Cerebellar vermis hypoplasia, Short stature, Postnatal growth retardation, Slurred speech, Progre... ORPHA:2834
Baller-Gerold Syndrome
Severe short stature, Short stature, Optic nerve hypoplasia, Optic atrophy, Abnormal heart morpho... OMIM:218600
Yunis-Varon Syndrome
Sparse scalp hair, Atrial septal defect, Sparse eyelashes, Ventricular septal defect, Short statu... ORPHA:3472
Williams Syndrome
Bicuspid aortic valve, Elevated circulating creatine kinase concentration, Myocardial infarction,... ORPHA:904
Severe Generalized Junctional Epidermolysis Bullosa
Alopecia, Paronychia, Dilated cardiomyopathy, Renal tubular epithelial necrosis, Growth delay, Se... ORPHA:79404
Glycogen Storage Disease Of Heart, Lethal Congenital
Prolonged QRS complex, Left axis deviation, Cardiomegaly, Congestive heart failure, ST segment el... OMIM:261740
Fucosidosis
Hepatomegaly, Cardiomegaly, Abnormal pyramidal sign, Spastic tetraplegia, Seizure, Spasticity, Fa... ORPHA:349
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis
Waddling gait, Small for gestational age, Rhizomelia, Growth delay, Nail dysplasia, Small nail, S... OMIM:614813
Woodhouse-Sakati Syndrome
Alopecia, Fine hair, Choreoathetosis, Abnormality of extrapyramidal motor function, Dystonia, Spa... OMIM:241080
Opitz-Kaveggia Syndrome
Short stature, Abnormal heart morphology, Fine hair, Gray matter heterotopia, Seizure, Frontal up... OMIM:305450
Cutis Laxa, Autosomal Recessive, Type Iiib
Sparse hair, Athetosis, Intrauterine growth retardation, Fine hair OMIM:614438
Gaucher Disease, Perinatal Lethal
Hepatomegaly, Akinesia, Cardiomegaly, Splenomegaly, Hepatosplenomegaly, Opisthotonus, Seizure, De... OMIM:608013
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Multiple muscular ventricular septal defects, Growth delay, Pulmonic stenosis, Sparse hair, Failu... OMIM:615508
Retinitis Pigmentosa And Erythrocytic Microcytosis
Optic disc pallor, Retinal atrophy, Retinal pigment epithelial atrophy, Epiretinal membrane, Phot... OMIM:616959
Retinitis Pigmentosa 45
Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:613767
Oculocutaneous Albinism Type 1A
Hypoplasia of the fovea, Hypopigmentation of hair, Albinism, Ocular albinism, Abnormal optic nerv... ORPHA:79431
Oculodentodigital Dysplasia, Autosomal Recessive
Sparse eyelashes, Short stature, Fine hair, Sparse hair, Microphthalmia, Failure to thrive OMIM:257850
Scalp-Ear-Nipple Syndrome
Short stature, Sparse axillary hair, Sparse pubic hair, Congestive heart failure, Cardiac myxoma,... OMIM:181270
Familial Idiopathic Dilatation Of The Right Atrium
Hepatomegaly, Abnormal cardiac ventricular function, Tricuspid regurgitation, Paroxysmal atrial f... ORPHA:1677
Autosomal Recessive Palmoplantar Keratoderma And Congenital Alopecia
Nail dystrophy, Alopecia totalis ORPHA:1366
Stuve-Wiedemann Syndrome 1
Short stature, Impaired pain sensation, Seizure, Abnormal autonomic nervous system physiology, Sp... OMIM:601559
Scarf Syndrome
Sparse hair, Hypoplastic nipples, Low posterior hairline ORPHA:3134
X-Linked Dominant Chondrodysplasia Punctata
Sparse eyelashes, Short stature, Abnormal hair pattern, Sparse eyebrow, Scarring alopecia of scal... ORPHA:35173
Hypergonadotropic Hypogonadism And Partial Alopecia
Alopecia OMIM:241090
Focal Dermal Hypoplasia
Ridged nail, Brittle hair, Short stature, Anophthalmia, Supernumerary nipple, Optic atrophy, Tela... OMIM:305600
Combined Oxidative Phosphorylation Deficiency 6
Generalized-onset seizure, Involuntary movements, Tetraplegia, Seizure, Tongue fasciculations OMIM:300816
Proboscis Lateralis
Abnormal eyebrow morphology, Anophthalmia, Abnormal location of the eyebrow, Ventricular septal d... ORPHA:141099
Neuroleptic Malignant Syndrome
Elevated hepatic transaminase, Tachycardia, Extrapyramidal muscular rigidity, Elevated circulatin... ORPHA:94093
Nephronophthisis 11
Growth delay, Retinal degeneration OMIM:613550
Turner Syndrome Due To Structural X Chromosome Anomalies
Prolonged QT interval, Elevated hepatic transaminase, Alopecia, Failure to thrive in infancy, Abn... ORPHA:99413
Mosaic Monosomy X
Prolonged QT interval, Elevated hepatic transaminase, Alopecia, Failure to thrive in infancy, Abn... ORPHA:99228
Monosomy X
Prolonged QT interval, Elevated hepatic transaminase, Alopecia, Failure to thrive in infancy, Abn... ORPHA:99226
Turner Syndrome
Prolonged QT interval, Elevated hepatic transaminase, Alopecia, Failure to thrive in infancy, Abn... ORPHA:881
Cranioectodermal Dysplasia 2
Elevated hepatic transaminase, Atrial septal defect, Hepatomegaly, Sparse eyelashes, Short statur... OMIM:613610
Combined Pituitary Hormone Deficiencies, Genetic Forms
Septo-optic dysplasia, Pituitary dwarfism, Optic nerve hypoplasia, Growth delay, Seizure, Abnorma... ORPHA:95494
Epidermolysis Bullosa Simplex With Muscular Dystrophy
Hyperconvex fingernails, Alopecia, Hypoplastic fingernail ORPHA:257
Phakomatosis Pigmentokeratotica
Raynaud phenomenon, Hemiparesis, Seizure, Patchy alopecia, Pheochromocytoma, Hyperesthesia, Arrhy... ORPHA:2874
Bietti Crystalline Corneoretinal Dystrophy
Chorioretinal atrophy, Retinal degeneration OMIM:210370
Nablus Mask-Like Facial Syndrome
Sparse eyelashes, Highly arched eyebrow, Absent eyelashes, Sparse eyebrow, Low anterior hairline,... OMIM:608156
Holocarboxylase Synthetase Deficiency
Seizure, Alopecia, Hypertonia OMIM:253270
Idiopathic Trachyonychia
Ridged nail, Thin nail, Concave nail, Nail pits, Patchy alopecia, Nail dystrophy, Fingernail dysp... ORPHA:79153
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome
Ventricular septal defect, Cerebral hemorrhage, Patent ductus arteriosus, Unsteady gait, Seizure,... OMIM:616682
Rothmund-Thomson Syndrome
Small for gestational age, Telangiectasia of the skin, Sparse eyelashes, Alopecia totalis, Sparse... ORPHA:2909
Dyskeratosis Congenita, Digenic
Alopecia, Sparse eyelashes, Short stature, Nail dystrophy, Intrauterine growth retardation, Failu... OMIM:620040
Bloom Syndrome
Small for gestational age, Sparse eyelashes, Paronychia, Telangiectasia, Growth delay, Severe pos... ORPHA:125
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Elevated hepatic transaminase, Alopecia, Failure to thrive in infancy, Cachexia, Splenomegaly, He... ORPHA:37042
3-Methylglutaconic Aciduria, Type Viii
Clonus, Tremor, Patent ductus arteriosus, Jaundice, Cerebral atrophy, Growth delay, Seizure, Hype... OMIM:617248
Osteogenesis Imperfecta, Type Xx
Sparse hair, Highly arched eyebrow, Sparse lateral eyebrow OMIM:618644
Histiocytosis-Lymphadenopathy Plus Syndrome
Hepatomegaly, Ventricular septal defect, Short stature, Cardiomegaly, Splenomegaly, Patent ductus... OMIM:602782
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma
Conjunctival telangiectasia, Alopecia, Alopecia of scalp, Nail dystrophy OMIM:618373
Oxoglutaric Aciduria
Abnormality of Krebs cycle metabolism, Hypertonia, Ataxia, Short stature ORPHA:31
Mandibuloacral Dysplasia Progeroid Syndrome
Elevated hepatic transaminase, Hepatomegaly, Mitral valve calcification, Tricuspid regurgitation,... OMIM:619127
Sickle Cell Disease
Hepatomegaly, Cardiomegaly, Splenomegaly, Jaundice, Hypertension, Retinopathy OMIM:603903
Ectodermal Dysplasia And Immunodeficiency 1
Sparse hair, Aplasia of the eccrine sweat glands OMIM:300291
Cranioectodermal Dysplasia 1
Hepatomegaly, Slow-growing hair, Short nail, Thin nail, Bicuspid aortic valve, Retinal dystrophy,... OMIM:218330
Distal Deletion 19P
Alopecia, Ventricular septal defect, Seizure, Tricuspid valve prolapse, Pulmonary valve atresia, ... ORPHA:96129
Scarf Syndrome
Sparse hair, Low anterior hairline, Hypoplastic nipples, Low posterior hairline OMIM:312830
Bartsocas-Papas Syndrome
Hypoplastic toenails, Sparse or absent eyelashes, Alopecia totalis, Aplasia/Hypoplasia of the eye... ORPHA:1234
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy
Optic disc pallor, Ataxia, Short stature, Babinski sign, Low anterior hairline, Seizure, Tetrapar... OMIM:300232
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome
Facial palsy, Short stature, Sparse body hair ORPHA:3068
Craniolenticulosutural Dysplasia
Brittle hair, Short stature, Optic atrophy, Coarse hair, Sparse hair OMIM:607812
Adult Syndrome
Sparse scalp hair, Alopecia, Absent nipple, Breast hypoplasia, Nail pits, Fine hair, Fingernail d... ORPHA:978
Bartsocas-Papas Syndrome 1
Absent eyebrow, Alopecia, Sparse scalp hair, Alopecia totalis, Absent eyelashes, Small nail, Micr... OMIM:263650
Mandibuloacral Dysplasia With Type A Lipodystrophy
Sparse scalp hair, Alopecia, Hepatomegaly, Postnatal growth retardation, Growth delay, Onychogryp... OMIM:248370
Rothmund-Thomson Syndrome Type 1
Small for gestational age, Alopecia totalis, Short stature, Telangiectasia, Growth delay, Sparse ... ORPHA:221008
Retinitis Pigmentosa 37
Pigmentary retinopathy, Rod-cone dystrophy, Cystoid macular degeneration OMIM:611131
Aorta Coarctation
Bicuspid aortic valve, Cardiomegaly, Congestive heart failure, Patent ductus arteriosus, Aortic v... ORPHA:1457
Thyrotoxic Periodic Paralysis
Prolonged QT interval, Paralysis, Tremor, Shortened PR interval, Obesity, Tetraplegia, Weight los... ORPHA:79102
Satoyoshi Syndrome
Abnormal hair morphology, Sparse or absent eyelashes, Short stature, Alopecia universalis ORPHA:3130
Bleeding Disorder, Platelet-Type, 21
Alopecia OMIM:617443
Pituitary Stalk Interruption Syndrome
Septo-optic dysplasia, Short stature, Seizure, Delayed puberty, Failure to thrive ORPHA:95496
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Patchy alopecia, Failure to thrive in infancy, Alopecia universalis, Hepatosplenomegaly OMIM:606367
Woodhouse-Sakati Syndrome
Alopecia, Dystonia, Choreoathetosis, Growth delay, Delayed puberty, Abnormal T-wave, Aplasia/Hypo... ORPHA:3464
Keratoderma Hereditarium Mutilans With Ichthyosis
Alopecia, Nail dystrophy, Onychogryposis ORPHA:79395
Diaphragmatic Hernia 4, With Cardiovascular Defects
Hepatomegaly, Ventricular septal defect, Optic nerve hypoplasia, Aortopulmonary window, Pulmonary... OMIM:620025
Absence Of The Pulmonary Artery
Abnormal EKG, Atrial flutter, Tachycardia, Atrial fibrillation, Cardiomegaly, Congestive heart fa... ORPHA:980
Viss Syndrome
Sparse scalp hair, Epidural hemorrhage, Alopecia, Ventricular septal defect, Retinal detachment, ... OMIM:619472
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Abnormal eyebrow morphology, Alopecia, Sparse facial hair, Sparse eyebrow, Sparse pubic hair, Gro... ORPHA:2232
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Ventricular hypertrophy, Hepatomegaly, Cardiomegaly, Tetraplegia, Hepatocellular necrosis, Hepato... OMIM:618278
Classical-Like Ehlers-Danlos Syndrome Type 2
Pericardial effusion, Alopecia, Mitral valve prolapse, Impaired temperature sensation ORPHA:536532
Epidermolysis Bullosa Dystrophica, Autosomal Recessive
Growth delay, Alopecia, Nail dystrophy, Nail dysplasia OMIM:226600
Cranioectodermal Dysplasia 3
Sparse hair, Short nail, Broad nail, Fine hair OMIM:614099
Adult-Onset Dystonia-Parkinsonism
Eyelid apraxia, Tremor, Rigidity, Parkinsonism with favorable response to dopaminergic medication... ORPHA:199351
Lysinuric Protein Intolerance
Hepatomegaly, Short stature, Splenomegaly, Fine hair, Truncal obesity, Sparse hair, Failure to th... OMIM:222700
Autoimmune Polyendocrinopathy Type 1
Alopecia, Abnormal fingernail morphology ORPHA:3453
Autosomal Recessive Robinow Syndrome
Alopecia, Ventricular septal defect, Abnormal pulmonary valve morphology, Abnormal tricuspid valv... ORPHA:1507
Autoimmune Polyendocrinopathy Type 2
Alopecia ORPHA:3143
Craniolenticulosutural Dysplasia
Sparse hair, Coarse hair, Brittle hair ORPHA:50814
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures
Short stature, Focal-onset seizure, Typical absence seizure, Optic disc coloboma, Obesity, Sparse... OMIM:617157
Holoprosencephaly 9
Anophthalmia, Short stature, Abnormal cortical gyration, Optic nerve hypoplasia, Seizure, Microph... OMIM:610829
Cone-Rod Dystrophy And Hearing Loss 1
Macular degeneration, Retinal atrophy OMIM:617236
Hereditary Leiomyomatosis And Renal Cell Cancer
Decreased fumarate hydratase activity OMIM:150800
Mandibuloacral Dysplasia With Type B Lipodystrophy
Alopecia, Short stature, Abnormal hair morphology, Nail dystrophy, Delayed puberty ORPHA:90154
Charcot-Marie-Tooth Disease, X-Linked Recessive, 4, With Or Without Cerebellar Ataxia
Elevated hepatic transaminase, Elevated circulating creatine kinase concentration, Distal sensory... OMIM:310490
Insulin-Resistance Syndrome Type B
Alopecia, Enlarged ovaries, Abnormality of body weight, Enlarged polycystic ovaries, Increased bo... ORPHA:2298
Olmsted Syndrome, X-Linked
Subungual hyperkeratosis, Alopecia totalis OMIM:300918
Renpenning Syndrome 1
Atrial septal defect, Brittle hair, Ventricular septal defect, Short stature, Situs inversus tota... OMIM:309500
Localized Scleroderma
Abnormal skin adnexa morphology, Raynaud phenomenon, Vasculitis, Seizure, Patchy alopecia, Focal ... ORPHA:90289
Omenn Syndrome
Splenomegaly, Hepatomegaly, Alopecia, Failure to thrive OMIM:603554
Alport Syndrome
Hypertension, Macular degeneration, Retinal flecks ORPHA:63
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Alopecia, Epileptic spasm, Severe short stature, Rigidity, Loss of eyelashes, Generalized non-mot... ORPHA:2636
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Alopecia, Short stature, Mild intrauterine growth retardation, Abnormal cardiac septum morphology... OMIM:308050
Trichorhinophalangeal Syndrome, Type Ii
Sparse scalp hair, Bicuspid aortic valve, Mild postnatal growth retardation, Myocardial infarctio... OMIM:150230
Relapsing Polychondritis
Abnormal endocardium morphology, Alopecia, Pericarditis, Myocarditis, Hepatitis, Large vessel vas... ORPHA:728
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2
Sparse hair, Short stature, Decreased body weight OMIM:615349
Branchiooculofacial Syndrome
Agenesis of cerebellar vermis, Anophthalmia, Facial palsy, Supernumerary nipple, Postnatal growth... OMIM:113620
Retinal Dystrophy And Iris Coloboma With Or Without Cataract
Retinal atrophy OMIM:616722
Centrifugal Lipodystrophy
Alopecia ORPHA:90156
Mandibuloacral Dysplasia With Type A Lipodystrophy
Abnormal eyebrow morphology, Alopecia, Short stature, Absent eyelashes, Breast aplasia ORPHA:90153
Double Outlet Left Ventricle
Double outlet left ventricle, Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, ... ORPHA:3427
Immunodeficiency 7
Splenomegaly, Hepatomegaly, Failure to thrive, Patchy alopecia OMIM:615387
Alström Syndrome
Elevated gamma-glutamyltransferase level, Hepatomegaly, Ataxia, Short stature, Portal hypertensio... ORPHA:64
Methylmalonic Aciduria, Cbla Type
Hepatomegaly, Tremor, Seizure, Decreased methylmalonyl-CoA mutase activity, Failure to thrive OMIM:251100
Proteasome-Associated Autoinflammatory Syndrome 1
Elevated hepatic transaminase, Hepatomegaly, Short stature, Sparse axillary hair, Cardiomegaly, C... OMIM:256040
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Aortic regurgitation, Transient ischemic attack, Bicuspid aortic valve, Subarachnoid hemorrhage, ... ORPHA:91387
Zinc Deficiency, Transient Neonatal
Alopecia OMIM:608118
Porphyria, Congenital Erythropoietic
Absent eyebrow, Alopecia, Hepatomegaly, Short stature, Splenomegaly, Jaundice, Loss of eyelashes,... OMIM:263700
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Alopecia, Growth delay, Nail dystrophy, Failure to thrive, Onychogryposis ORPHA:79396
Parkinson Disease 20, Early-Onset
Eyelid apraxia, Involuntary movements, Parkinsonism, Tremor, Rigidity, Bradykinesia, Gait disturb... OMIM:615530
Arterial Calcification, Generalized, Of Infancy, 1
Short stature, Myocardial infarction, Cardiomegaly, Congestive heart failure, Dilated cardiomyopa... OMIM:208000
Ectodermal Dysplasia And Immunodeficiency 2
Sparse hair, Aplasia of the sweat glands, Sparse scalp hair OMIM:612132
Sarcoidosis
Hepatomegaly, Abnormal cardiac ventricular function, Alopecia, Facial palsy, Portal hypertension,... ORPHA:797
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Bicuspid aortic valve, Short stature, Rhizomelia, Cardiomegaly, Low posterior hairline, Mitral va... OMIM:245600
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
Beck-Fahrner Syndrome
Seizure, Ventricular septal defect, Cardiomegaly OMIM:618798
Supranuclear Palsy, Progressive, 1
Limb dystonia, Eyelid apraxia, Axial dystonia, Parkinsonism, Akinesia, Tremor, Rigidity, Cerebral... OMIM:601104
Liver Disease, Severe Congenital
Dry hair, Cardiomegaly, Abnormal left ventricular function, Atrial septal defect, Patent foramen ... OMIM:619991
Ablepharon Macrostomia Syndrome
Absent eyebrow, Abnormal hair pattern, Absent eyelashes, Fine hair, Sparse hair, Breast hypoplasia ORPHA:920
Severe X-Linked Mitochondrial Encephalomyopathy
Involuntary movements, Sensory axonal neuropathy, Tongue fasciculations ORPHA:238329
Monosomy 22
Synophrys, Schwannoma, Hepatosplenomegaly, Hypertonia, Sparse hair ORPHA:96123
Rothmund-Thomson Syndrome Type 2
Small for gestational age, Alopecia totalis, Short stature, Growth delay, Sparse or absent eyelas... ORPHA:221016
Epidermolysis Bullosa, Lethal Acantholytic
Alopecia universalis, Anonychia, Alopecia totalis, Absent fingernail OMIM:609638
Behcet Syndrome
Raynaud phenomenon, Chorioretinitis, Patchy alopecia OMIM:109650
Tetraamelia-Multiple Malformations Syndrome
Microphthalmia, Septo-optic dysplasia, Optic atrophy ORPHA:3301
Autoimmune Polyendocrine Syndrome, Type Ii
Seizure, Alopecia, Hepatitis, Chronic hepatitis OMIM:269200
Combined Immunodeficiency-Enteropathy Spectrum
Sparse hair, Absent eyebrow, Alopecia of scalp, Nail dystrophy ORPHA:436252
Gaucher Disease, Type Iiic
Hepatomegaly, Mitral valve calcification, Cardiomegaly, Aortic valve calcification, Splenomegaly,... OMIM:231005
Lenz-Majewski Hyperostotic Dwarfism
Short stature, Sparse hair, Intrauterine growth retardation, Failure to thrive, Cerebral cortical... OMIM:151050
Combined Oxidative Phosphorylation Deficiency 41
Intrauterine growth retardation, Elevated circulating creatine kinase concentration, Cardiomegaly OMIM:618838
Autosomal Dominant Robinow Syndrome
Alopecia, Severe short stature, Short stature, Curly eyelashes, Long eyelashes, Fingernail dyspla... ORPHA:3107
Generalized Arterial Calcification Of Infancy
Ventricular hypertrophy, Transient ischemic attack, Elevated alkaline phosphatase of bone origin,... ORPHA:51608
Birdshot Chorioretinopathy
Retinal pigment epithelial atrophy, Abnormal chorioretinal morphology, Vitritis, Vitreous floaters OMIM:605808
Ring Chromosome 13 Syndrome
Growth delay, Retinoblastoma, Alopecia, Abnormal retinal morphology ORPHA:96176
Beckwith-Wiedemann Syndrome
Hepatomegaly, Cardiomegaly, Large for gestational age, Splenomegaly, Obesity, Chiari malformation... ORPHA:116
Pallister-Killian Syndrome
Sparse scalp hair, Alopecia, Atrial septal defect, Sparse eyelashes, Ventricular septal defect, S... OMIM:601803
Congenital Tracheomalacia
Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Partial anomalous pulmonary ve... ORPHA:95430
Lethal Congenital Contracture Syndrome 10
Torticollis, Overriding aorta, Ventricular septal defect, Cardiomegaly, Intrauterine growth retar... OMIM:617022
Truncus Arteriosus
Aortic regurgitation, Tachycardia, Ventricular septal defect, Abnormal heart valve morphology, Ca... ORPHA:3384
Paternal Uniparental Disomy Of Chromosome 6
Hepatomegaly, Ventricular septal defect, Cardiomegaly, Postnatal growth retardation, Patent ductu... ORPHA:96191
Normosmic Congenital Hypogonadotropic Hypogonadism
Eunuchoid habitus, Sparse body hair, Breast hypoplasia, Delayed puberty ORPHA:432
Intellectual Developmental Disorder, Autosomal Dominant 68
Sparse hair, Intrauterine growth retardation, Patent ductus arteriosus OMIM:619934
Ectodermal Dysplasia-Skin Fragility Syndrome
Short stature, Nail dystrophy, Difficulty walking, Sparse hair, Failure to thrive, Alopecia unive... ORPHA:158668
Scalp-Ear-Nipple Syndrome
Sparse hair, Breast aplasia, Abnormal fingernail morphology ORPHA:2036
Restrictive Dermopathy
Atrial septal defect, Short nail, Dextrocardia, Sparse eyebrow, Aplasia/Hypoplastia of the eccrin... ORPHA:1662
Singleton-Merten Syndrome 1
Waddling gait, Mitral valve calcification, Short stature, Cardiomegaly, Congestive heart failure,... OMIM:182250
Limb-Mammary Syndrome
Alopecia, Absent nipple, Sparse eyebrow, Bilateral breast hypoplasia, Breast aplasia, Hypoplastic... ORPHA:69085
Methylmalonic Aciduria, Cblb Type
Decreased methylmalonyl-CoA mutase activity, Failure to thrive, Hepatomegaly OMIM:251110
Roberts Syndrome
Sparse hair, Microphthalmia, Postnatal growth retardation, Severe intrauterine growth retardation ORPHA:3103
Autoimmune Polyendocrinopathy Type 4
Alopecia, Hepatitis ORPHA:227990
Autoimmune Polyendocrinopathy Type 3
Alopecia, Hepatitis ORPHA:227982
Primrose Syndrome
Sparse scalp hair, Ataxia, Absent facial hair, Short stature, Synophrys, Delayed puberty, Truncal... OMIM:259050
Trichotillomania
Alopecia OMIM:613229
Vascular Ehlers-Danlos Syndrome
Alopecia, Telangiectasia of the skin, Transient ischemic attack, Abnormal heart valve morphology,... ORPHA:286
Congenital Total Pulmonary Venous Return Anomaly
Atrial situs ambiguous, Cardiomegaly, Mixed total anomalous pulmonary venous connection, Atrial s... ORPHA:99125
Wrinkly Skin Syndrome
Failure to thrive, Short stature, Short nail, Muscular ventricular septal defect, Sparse hair, In... OMIM:278250
Ablepharon-Macrostomia Syndrome
Absent eyebrow, Absent eyelashes, Hypoplastic nipples, Sparse hair, Hypoplastic fingernail OMIM:200110
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Short stature, Sparse axillary hair, Sparse pubic hair, Enlarged polycystic ovaries, Delayed pube... ORPHA:90796
Beckwith-Wiedemann Syndrome
Hepatomegaly, Cardiomegaly, Pancreatic hyperplasia, Cardiomyopathy, Enlarged kidney, Dandy-Walker... OMIM:130650
Chronic Graft Versus Host Disease
Elevated hepatic transaminase, Alopecia, Weight loss, Onycholysis, Nail dystrophy ORPHA:99921
Roberts-Sc Phocomelia Syndrome
Atrial septal defect, Ventricular septal defect, Postnatal growth retardation, Patent ductus arte... OMIM:268300
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Telangiectasia of the oral mucosa, Telangiectasia of the skin, Lip telangiectasia, Cardiomegaly ORPHA:79280
Deafness, X-Linked 5, With Peripheral Neuropathy
Unsteady gait, Sensory axonal neuropathy, Distal sensory impairment OMIM:300614
Menke-Hennekam Syndrome 1
Sparse hair, Seizure, Long eyelashes, Thick eyebrow OMIM:618332

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 Aifm1

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 Aifm1.

No publications found that use IMPC mice or data for Aifm1.

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Aifm1tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Aifm1tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Aifm1tm40577(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors

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