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Gene: Fa2h MGI:2443327

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Gene Summary

Name:
fatty acid 2-hydroxylase
Synonyms:
Faxdc1,  G630055L08Rik

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IMPC Data Collections

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.

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal vitreous body morphology Fa2hem1(IMPC)Mbp HOM   Early adult 1.04×10-07
cataract Fa2hem1(IMPC)Mbp HOM   Early adult 2.65×10-07
abnormal coat/ hair morphology Fa2hem1(IMPC)Mbp HOM Early adult 9.07×10-18
enlarged testis Fa2hem1(IMPC)Mbp HOM Early adult 0.00
increased freezing behavior Fa2hem1(IMPC)Mbp HOM Early adult 4.27×10-23
decreased grip strength Fa2hem1(IMPC)Mbp HOM Early adult 3.30×10-05
decreased circulating HDL cholesterol level Fa2hem1(IMPC)Mbp HOM   Early adult 9.09×10-05
enlarged spleen Fa2hem1(IMPC)Mbp HOM Early adult 0.00
decreased circulating cholesterol level Fa2hem1(IMPC)Mbp HOM Early adult 1.59×10-06
enlarged kidney Fa2hem1(IMPC)Mbp HOM Early adult 0.00
abnormal skin morphology Fa2hem1(IMPC)Mbp HOM Early adult 0.00
abnormal retina morphology Fa2hem1(IMPC)Mbp HOM   Early adult 1.35×10-05
abnormal eye morphology Fa2hem1(IMPC)Mbp HOM Early adult 0.00
abnormal testis morphology Fa2hem1(IMPC)Mbp HOM Early adult 0.00
abnormal kidney morphology Fa2hem1(IMPC)Mbp HOM Early adult 0.00
abnormal spleen morphology Fa2hem1(IMPC)Mbp HOM Early adult 0.00

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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.

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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X-ray

XRay Images Whole Body Dorso Ventral

30 Images

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Histopathology

Images

2 Images

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Human diseases caused by Fa2h 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 Fa2h by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Autosomal Recessive Spastic Paraplegia Type 35
Mental deterioration, Optic atrophy, Cerebellar atrophy, Difficulty walking, Peripheral demyelina... ORPHA:171629
Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration
Mental deterioration, Optic atrophy, Cerebellar atrophy, Difficulty walking, Dysmetria, Ataxia, D... OMIM:612319
Fatty Acid Hydroxylase-Associated Neurodegeneration
Optic atrophy, Mental deterioration, Falls, Cerebellar atrophy, Cerebellar vermis atrophy, Loss o... ORPHA:329308

The table below shows human diseases predicted to be associated to Fa2h by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Central Centrifugal Cicatricial Alopecia
Scarring alopecia of scalp OMIM:618352
Alopecia, Androgenetic, 1
Alopecia OMIM:109200
Alopecia-Intellectual Disability Syndrome 2
Alopecia universalis OMIM:610422
Alopecia-Intellectual Disability Syndrome 3
Alopecia universalis OMIM:613930
Alopecia Areata 2
Alopecia universalis, Patchy alopecia, Alopecia of scalp, Alopecia totalis OMIM:610753
Alopecia-Intellectual Disability Syndrome 1
Alopecia universalis, Alopecia OMIM:203650
Alopecia, Familial Focal
Patchy alopecia OMIM:104110
Alopecia Universalis Congenita
Alopecia universalis, Absent eyelashes, Absent eyebrow, Absent pubic hair, Absent axillary hair OMIM:203655
Hypotrichosis Simplex
Alopecia, Sparse eyebrow, Sparse body hair, Sparse eyelashes, Sparse hair, Sparse scalp hair ORPHA:55654
Hypotrichosis 4
Alopecia, Sparse eyebrow, Sparse body hair, Sparse eyelashes, Uncombable hair, Sparse scalp hair OMIM:146550
Hypotrichosis 11
Alopecia universalis, Aplasia/Hypoplasia of the eyebrow, Sparse or absent eyelashes, Absent axill... OMIM:615059
Alopecia Areata 1
Alopecia universalis, Alopecia totalis, Patchy alopecia, Trachyonychia, Nail pits OMIM:104000
Perifolliculitis Capitis Abscedens Et Suffodiens, Familial
Alopecia, Alopecia of scalp OMIM:260910
Alopecia-Intellectual Disability-Hypergonadotropic Hypogonadism Syndrome
Alopecia totalis ORPHA:1014
Ectodermal Dysplasia 6, Hair/Nail Type
Alopecia, Sparse hair, Thin toenail, Dystrophic toenail OMIM:614928
Hypotrichosis 15
Sparse scalp hair OMIM:620177
Graham Little-Piccardi-Lassueur Syndrome
Alopecia, Sparse axillary hair, Sparse pubic hair, Sparse scalp hair ORPHA:505
Severe Combined Immunodeficiency Due To Foxn1 Deficiency
Ridged nail, Nail pits, Congenital alopecia totalis ORPHA:169095
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
Parc Syndrome
Absent eyelashes, Alopecia, Absent eyebrow OMIM:600331
Marie Unna Hereditary Hypotrichosis
Alopecia, Coarse hair, Sparse or absent eyelashes, Aplasia/Hypoplasia of the eyebrow, Sparse scal... ORPHA:444
Uncombable Hair Syndrome
Coarse hair, White hair, Abnormal hair morphology, Patchy alopecia, Trichodysplasia, Woolly hair ORPHA:1410
Hypotrichosis 1
Sparse pubic hair, Sparse eyebrow, Sparse body hair, Sparse eyelashes, Sparse axillary hair, Spar... OMIM:605389
Odonto-Onycho Dysplasia-Alopecia Syndrome
Alopecia, Sparse eyebrow, Sparse body hair, Abnormal fingernail morphology, Hypoplastic toenails,... ORPHA:2722
Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy
Alopecia, Dystrophic toenail, Sparse body hair, Onychogryposis of toenails, Alopecia of scalp OMIM:617294
Trichodysplasia-Amelogenesis Imperfecta Syndrome
Trichodysplasia, Alopecia of scalp ORPHA:79129
Trichodysplasia-Xeroderma Syndrome
Alopecia, Coarse hair, Sparse eyebrow, Sparse body hair, Trichorrhexis nodosa, Trichodysplasia, P... ORPHA:3361
L-Ferritin Deficiency
Alopecia OMIM:615604
Atrichia With Papular Lesions
Sparse hair OMIM:209500
Hypotrichosis 10
Sparse eyebrow, Sparse body hair, Sparse eyelashes, Abnormality of the nail, Sparse scalp hair OMIM:614238
Monilethrix
Alopecia, Nail dystrophy, Nail dysplasia, Brittle hair, Abnormality of hair texture, Sparse hair OMIM:158000
Null Syndrome
Optic atrophy, CNS hypomyelination, Difficulty walking, Inability to walk, Peripheral demyelinati... ORPHA:280234
Hypertrichosis, Congenital Generalized, 2
Hirsutism, Congenital, generalized hypertrichosis OMIM:307150
Ringed Hair Disease
Abnormal hair pattern, Fine hair ORPHA:169
Epidermolysis Bullosa Simplex 5D, Generalized Intermediate, Autosomal Recessive
Alopecia, Nail dystrophy OMIM:616487
Pili Bifurcati
Abnormal hair morphology, Abnormality of hair texture ORPHA:720
Ichthyosis-Hypotrichosis Syndrome
Sparse hair ORPHA:91132
Chronic Inflammatory Demyelinating Polyneuropathy
Abnormal nerve conduction velocity, Spontaneous pain sensation, Somatic sensory dysfunction, Fall... ORPHA:2932
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy
Alopecia, Nail pits, Ridged nail, Nail dystrophy OMIM:601705
Spinocerebellar Ataxia Type 43
Cerebellar vermis atrophy, Limb ataxia, Gait ataxia, Distal sensory impairment, Peripheral axonal... ORPHA:497764
Charcot-Marie-Tooth Disease, Demyelinating, Type 4F
Broad-based gait, Basal lamina onion bulb formation, Decreased motor nerve conduction velocity, D... OMIM:614895
Congenital Smooth Muscle Hamartoma, With Or Without Hemihypertrophy
Hypertrichosis OMIM:620470
Charcot-Marie-Tooth Disease, Demyelinating, Type 1C
Hypertrophic nerve changes, Decreased motor nerve conduction velocity, Decreased nerve conduction... OMIM:601098
Leukomelanoderma, Infantilism, Impaired Intellectual Development, Hypodontia, Hypotrichosis
Sparse hair OMIM:246500
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Ataxia, Impaired vibratory sensation, Cerebellar atrophy, Decreased motor nerve conduction veloci... OMIM:607250
Hypotrichosis 5
Abnormal sweat gland morphology, Alopecia, Thin eyebrow, Sparse eyelashes, Absent pubic hair, Abs... OMIM:612841
Woolly Hair, Autosomal Recessive 3
Fine hair, Trichorrhexis nodosa, Sparse eyelashes, Curly hair, Sparse hair, Sparse scalp hair OMIM:616760
Neurodegeneration, Childhood-Onset, With Brain Atrophy
Mental deterioration, Cerebellar atrophy, Inability to walk, Chorea, Peripheral demyelination, At... OMIM:617672
Thumb Deformity And Alopecia
Alopecia OMIM:188150
Ceroid Lipofuscinosis, Neuronal, 11
Mental deterioration, Optic atrophy, Cerebellar atrophy, Ataxia, Retinal dystrophy OMIM:614706
Candidiasis, Familial, 1
Alopecia OMIM:114580
Pili Torti
Alopecia, Abnormal eyebrow morphology, Pili torti, Brittle hair, Abnormality of hair texture, Abn... ORPHA:2889
Spastic Paraplegia 55, Autosomal Recessive
Optic atrophy, Difficulty walking, Distal sensory impairment, Peripheral axonal neuropathy, Stepp... OMIM:615035
Charcot-Marie-Tooth Disease, Dominant Intermediate A
Somatic sensory dysfunction, Peripheral demyelination, Axonal degeneration/regeneration, Peripher... OMIM:620378
Hidrotic Ectodermal Dysplasia
Small nail, Sparse eyelashes, Absent eyebrow, Absent axillary hair, Sparse hair, Alopecia, Sparse... ORPHA:189
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Memory impairment, Frontal lobe dementia, Peripheral demyelination, Abnormal upper motor neuron m... OMIM:221770
Metachromatic Leukodystrophy Due To Saposin B Deficiency
Mental deterioration, Decreased nerve conduction velocity, Peripheral demyelination, Gait ataxia,... OMIM:249900
Charcot-Marie-Tooth Disease, Dominant Intermediate F
Impaired vibratory sensation, Impaired pain sensation, Peripheral demyelination, Distal sensory i... OMIM:615185
Charcot-Marie-Tooth Disease, Axonal, Type 2Gg
Difficulty walking, Axonal degeneration/regeneration, Distal sensory impairment, Steppage gait, S... OMIM:606483
Cervical Hypertrichosis With Underlying Kyphoscoliosis
Sacral hypertrichosis, Thoracic hypertrichosis, Lumbar hypertrichosis, Anterior cervical hypertri... OMIM:117850
Subacute Inflammatory Demyelinating Polyneuropathy
Decreased motor nerve conduction velocity, Somatic sensory dysfunction, Decreased amplitude of se... ORPHA:206594
Björnstad Syndrome
Alopecia, Brittle hair ORPHA:123
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Mental deterioration, Optic atrophy, Decreased motor nerve conduction velocity, Axonal degenerati... OMIM:609260
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia
Alopecia, Fine hair, Abnormal fingernail morphology, Abnormal hair morphology, Dry skin, Abnormal... ORPHA:248
Hypertrophic Neuropathy Of Dejerine-Sottas
Hypertrophic nerve changes, Broad-based gait, Decreased motor nerve conduction velocity, Peripher... OMIM:145900
Crandall Syndrome
Alopecia, Fine hair, Sparse body hair, Brittle hair, Pili torti, Aplasia/Hypoplasia of the eyebrow ORPHA:202
Leukoencephalopathy-Palmoplantar Keratoderma Syndrome
Tip-toe gait, Decreased number of peripheral myelinated nerve fibers, Cognitive impairment, Demen... ORPHA:2386
Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness
Impaired vibratory sensation, Impaired pain sensation, Peripheral demyelination, Distal sensory i... ORPHA:101097
Charcot-Marie-Tooth Disease, Recessive Intermediate D
Steppage gait, Onion bulb formation, Distal sensory impairment OMIM:616039
Charcot-Marie-Tooth Disease, X-Linked Recessive, 5
Optic atrophy, Distal sensory impairment, Gait disturbance, Rod-cone dystrophy, Segmental periphe... OMIM:311070
Spinocerebellar Ataxia Type 25
Diffuse cerebellar atrophy, Impaired pain sensation, Gait ataxia, Distal sensory impairment, Abno... ORPHA:101111
Hypotrichosis, Congenital, With Juvenile Macular Dystrophy
Reduced terminal:vellus ratio, Pili torti, Sparse hair, Abnormality of the nail, Sparse scalp hair OMIM:601553
Charcot-Marie-Tooth Disease, Demyelinating, Type 1G
Impaired pain sensation, Difficulty walking, Peripheral demyelination, Decreased compound muscle ... OMIM:618279
Osteopenia And Sparse Hair
Sparse hair OMIM:259690
Charcot-Marie-Tooth Disease, Axonal, Type 2A1
Decreased motor nerve conduction velocity, Axonal degeneration/regeneration, Distal sensory impai... OMIM:118210
Charcot-Marie-Tooth Disease Type 4G
Impaired vibratory sensation, Decreased motor nerve conduction velocity, Impaired pain sensation,... ORPHA:99953
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Mental deterioration, Cerebellar atrophy, Chorea, Limb ataxia, Gait ataxia, Decreased number of l... OMIM:208920
Charcot-Marie-Tooth Disease, Type 4A
Hypertrophic nerve changes, Basal lamina onion bulb formation, CNS hypomyelination, Decreased mot... OMIM:214400
Ectodermal Dysplasia 4, Hair/Nail Type
Abnormal sweat gland morphology, Alopecia, Sparse body hair, Congenital onychodystrophy, Nail dys... OMIM:602032
Charcot-Marie-Tooth Disease, Demyelinating, Type 1B
Hypertrophic nerve changes, Decreased motor nerve conduction velocity, Peripheral demyelination, ... OMIM:118200
Peroxisome Biogenesis Disorder 8B
Optic atrophy, Cerebellar atrophy, Tip-toe gait, Leukodystrophy, Cerebellar vermis atrophy, Perip... OMIM:614877
Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant
Leukodystrophy, Autonomic bladder dysfunction, Abnormal cerebellum morphology, Orthostatic hypote... OMIM:169500
Ectodermal Dysplasia 7, Hair/Nail Type
Abnormal sweat gland morphology, Alopecia, Sparse eyebrow, Dystrophic toenail, Sparse eyelashes, ... OMIM:614929
Roussy-Levy Hereditary Areflexic Dystasia
Hypertrophic nerve changes, Decreased motor nerve conduction velocity, Gait ataxia, Distal sensor... OMIM:180800
Ectodermal Dysplasia 10A, Hypohidrotic/Hair/Nail Type, Autosomal Dominant
Sparse eyebrow, Fine hair, Dry skin, Ridged nail, Sparse eyelashes, Hypohidrosis, Slow-growing ha... OMIM:129490
Charcot-Marie-Tooth Disease, Type 4H
Decreased motor nerve conduction velocity, Distal sensory impairment, Decreased number of periphe... OMIM:609311
Charcot-Marie-Tooth Disease, Axonal, Type 2I
Steppage gait, Axonal degeneration/regeneration, Distal sensory impairment, Decreased number of p... OMIM:607677
Charcot-Marie-Tooth Disease, Axonal, Type 2H
Axonal regeneration, Steppage gait, Distal sensory impairment, Decreased number of peripheral mye... OMIM:607731
Adult Krabbe Disease
Delayed brainstem auditory evoked response conduction time, Mental deterioration, Broad-based gai... ORPHA:206448
Charcot-Marie-Tooth Disease, Demyelinating, Type 1F
Decreased motor nerve conduction velocity, Distal sensory impairment, Clusters of axonal regenera... OMIM:607734
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
Alopecia universalis, Abnormal eyelash morphology, Sparse scalp hair, Sparse body hair ORPHA:1008
Charcot-Marie-Tooth Disease, Demyelinating, Type 1A
Hypertrophic nerve changes, Decreased motor nerve conduction velocity, Distal sensory impairment,... OMIM:118220
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Hyperlipidemia, Distal sensory impairment, Axonal degeneration, Decreased number of peripheral my... OMIM:604484
Kerion Celsi
Alopecia ORPHA:499
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome
Optic atrophy, Abnormality of retinal pigmentation, Cerebellar hypoplasia, Cognitive impairment, ... ORPHA:2246
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome
Alopecia, Decreased response to growth hormone stimulation test, Long eyelashes, Cryptorchidism, ... ORPHA:3363
Pseudopelade Of Brocq
Alopecia, Abnormal hair morphology, Aplasia/Hypoplasia of the eyebrow, Abnormality of the nail, S... ORPHA:129
Palmoplantar Keratoderma And Congenital Alopecia 2
Alopecia totalis, Dry skin, Nail dystrophy, Nail dysplasia, Facial erythema, Palmoplantar hyperke... OMIM:212360
Acute Inflammatory Demyelinating Polyradiculoneuropathy
Onion bulb formation, Unsteady gait, Acute demyelinating polyneuropathy, Dysesthesia ORPHA:98916
Quinquaud Folliculitis Decalvans
Abnormal hair morphology, Patchy alopecia, Scarring alopecia of scalp ORPHA:346
Cerebellar Ataxia-Ectodermal Dysplasia Syndrome
Fine hair, Cryptorchidism, Gait disturbance, Ataxia, Sparse hair ORPHA:1174
Hypotrichosis 9
Sparse eyebrow, Sparse body hair, Hypohidrosis, Abnormal eyelash morphology, Abnormality of the n... OMIM:614237
Giant Axonal Neuropathy 2, Autosomal Dominant
Decreased motor nerve conduction velocity, Peripheral axonal neuropathy, Steppage gait, Impaired ... OMIM:610100
Charcot-Marie-Tooth Disease, Dominant Intermediate B
Distal sensory impairment, Axonal degeneration, Decreased number of peripheral myelinated nerve f... OMIM:606482
Hypergonadotropic Hypogonadism And Partial Alopecia
Alopecia OMIM:241090
Tooth Agenesis, Selective, 8
Dry skin, Sparse eyebrow, Sparse hair OMIM:617073
Polycystic Kidney Disease 5
Hyperechogenic kidneys, Hepatosplenomegaly, Stage 5 chronic kidney disease, Reduced renal cortico... OMIM:617610
Bullous Dystrophy, Hereditary Macular Type
Alopecia totalis, Abnormality of the nail OMIM:302000
Familial Peripheral Male-Limited Precocious Puberty
Precocious puberty, Long penis, Abnormal hair morphology, Attention deficit hyperactivity disorde... ORPHA:3000
Ectodermal Dysplasia/Skin Fragility Syndrome
Alopecia of scalp, Nail dystrophy, Absent eyelashes, Dystrophic fingernails, Absent eyebrow, Palm... OMIM:604536
Congenital Cataracts, Facial Dysmorphism, And Neuropathy
Decreased motor nerve conduction velocity, Chorea, Peripheral demyelination, Peripheral hypomyeli... OMIM:604168
Epidermolysis Bullosa, Junctional 5A, Intermediate
Alopecia of scalp, Nail dystrophy, Onychogryposis, Absent pubic hair, Absent axillary hair, Onych... OMIM:619816
Angioma Serpiginosum, X-Linked
Sparse hair, Nail dystrophy, Fine hair OMIM:300652
Flynn-Aird Syndrome
Alopecia, Alopecia of scalp, Hyperkeratosis, Ataxia OMIM:136300
Charcot-Marie-Tooth Disease, Dominant Intermediate C
Decreased motor nerve conduction velocity, Difficulty walking, Distal sensory impairment, Axonal ... OMIM:608323
Monilethrix
Fine hair, Abnormal eyebrow morphology, Patchy alopecia, Slow-growing hair, Brittle hair, Abnorma... ORPHA:573
Familial Apolipoprotein Gene Cluster Deletion Syndrome
Hypotriglyceridemia, Hypocholesterolemia, Decreased circulating apolipoprotein A-I concentration,... OMIM:620058
Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome
Alopecia, Sparse eyebrow, Dystrophic toenail, Fine hair, Dystrophic fingernails, Hypohidrosis, Hy... ORPHA:1882
Posterior Column Ataxia With Retinitis Pigmentosa
Optic atrophy, Broad-based gait, Pigmentary retinopathy, Impaired vibration sensation in the lowe... OMIM:609033
Palmoplantar Keratoderma And Congenital Alopecia 1
Alopecia, Sparse eyebrow, Palmoplantar keratoderma, Leukonychia, Nail dysplasia, Palmoplantar ery... OMIM:104100
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B
Optic atrophy, Difficulty walking, Distal sensory impairment, Peripheral axonal neuropathy, Decre... OMIM:617087
Hepatorenocardiac Degenerative Fibrosis
Hepatic bridging fibrosis, Hyperechogenic kidneys, Hepatosplenomegaly, Reduced renal corticomedul... OMIM:619902
Charcot-Marie-Tooth Disease, Recessive Intermediate A
Peripheral demyelination, Distal sensory impairment, Steppage gait, Decreased number of large per... OMIM:608340
Charcot-Marie-Tooth Disease, Axonal, Type 2J
Peripheral demyelination, Steppage gait, Axonal degeneration/regeneration, Distal sensory impairment OMIM:607736
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness
Cataract, Cryptorchidism, Chorioretinal coloboma OMIM:274205
Ectodermal Dysplasia 15, Hypohidrotic/Hair Type
Palmoplantar keratoderma, Sparse body hair, Dry skin, Sparse eyelashes, Hypohidrosis, Slow-growin... OMIM:618535
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2K
Decreased nerve conduction velocity, Peripheral demyelination, Gait disturbance, Distal sensory i... ORPHA:99944
Moynahan Syndrome
Alopecia, Sparse hair, Hyperkeratosis ORPHA:2574
Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive
Decreased motor nerve conduction velocity, Impaired pain sensation, Axonal degeneration/regenerat... OMIM:607706
Oliver-Mcfarlane Syndrome
Alopecia, Decreased response to growth hormone stimulation test, Long eyelashes, Cryptorchidism, ... OMIM:275400
Bjornstad Syndrome
Hair shafts flattened at irregular intervals and twisted through 180 degrees about their axes, Al... OMIM:262000
Ichthyosis, Congenital, Autosomal Recessive 2
Erythema, Alopecia, Palmoplantar keratoderma, Small nail, Abnormal hair morphology, Paralysis, Hy... OMIM:242100
Schopf-Schulz-Passarge Syndrome
Palmoplantar keratoderma, Small nail, Poroma, Sparse body hair, Apocrine hidrocystoma, Dry skin, ... OMIM:224750
Charcot-Marie-Tooth Disease, Type 4B2
Decreased motor nerve conduction velocity, Difficulty walking, Distal sensory impairment, Decreas... OMIM:604563
Trichothiodystrophy 9, Nonphotosensitive
Sparse eyebrow, Tiger tail banding, Nail dystrophy, Ataxia, Sparse hair OMIM:619692
Rothmund-Thomson Syndrome, Type 1
Nail dystrophy, Absent eyelashes, Hypothyroidism, Absent eyebrow, Thin nail, Sparse hair, Hyperke... OMIM:618625
Charcot-Marie-Tooth Disease, Type 4J
Decreased motor nerve conduction velocity, Decreased nerve conduction velocity, Distal sensory im... OMIM:611228
Charcot-Marie-Tooth Disease, Type 4C
Delayed brainstem auditory evoked response conduction time, Basal lamina onion bulb formation, De... OMIM:601596
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome
Onychogryposis of fingernail, Alopecia, Ridged fingernail, Palmoplantar keratoderma, Fingernail d... ORPHA:2251
Erythrokeratodermia Variabilis
Erythema, Alopecia, Abnormal hair morphology, Dry skin, Patchy palmoplantar hyperkeratosis, Gener... ORPHA:317
Charcot-Marie-Tooth Disease, Axonal, Type 2B1
Decreased motor nerve conduction velocity, Axonal degeneration/regeneration, Distal sensory impai... OMIM:605588
Epidermolysis Bullosa Simplex With Mottled Pigmentation
Hyperkeratotic papule, Alopecia, Nail dystrophy, Nail dysplasia, Palmar hyperkeratosis, Plantar h... ORPHA:79397
Hypotrichosis 6
Erythema, Sparse eyebrow, Sparse eyelashes, Pili torti, Follicular hyperkeratosis, Brittle hair, ... OMIM:607903
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hypocholesterolemia, Hypersplenism, Splenomegaly, Anemia, Thrombocytopenia, Hepatomegaly OMIM:610539
Charcot-Marie-Tooth Disease, Type 4K
Axonal loss, Difficulty walking, Peripheral demyelination, Ataxia OMIM:616684
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Extramedullary hematopoiesis, Leukopenia, Splenomegaly, Anemia, Thrombocytopenia, Neutropenia, He... OMIM:615285
Neuropathy, Congenital Hypomyelinating, 2
Sensory ataxia, Decreased motor nerve conduction velocity, Inability to walk, Facial diplegia, De... OMIM:618184
Ectodermal Dysplasia-Syndactyly Syndrome 2
Follicular hyperkeratosis, Sparse hair, Palmoplantar keratoderma, Hyperhidrosis OMIM:613576
Kondoh Syndrome
Sparse hair, Thick eyebrow, Widow's peak OMIM:606242
Morm Syndrome
Cataract, Aggressive behavior, Retinal atrophy, Hyperactivity, Abnormality of the kidney, Micrope... ORPHA:75858
Hidrotic Ectodermal Dysplasia, Christianson-Fourie Type
Sparse pubic hair, Abnormal hair morphology, Onychogryposis of toenails, Nail dystrophy, Sparse e... ORPHA:1808
Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome
Sparse eyebrow, Congenital alopecia totalis, Generalized hyperkeratosis, Dry skin, Alopecia of sc... ORPHA:2269
Dermoodontodysplasia
Toenail dysplasia, Sparse body hair, Fingernail dysplasia, Dry skin, Trichodysplasia, Hypohidrosi... ORPHA:1660
Spastic Ataxia 5, Autosomal Recessive
Cerebellar atrophy, Dysmetria, Spastic ataxia, Cognitive impairment, Ataxia, Onion bulb formation... OMIM:614487
Aredyld
Generalized hypotrichosis OMIM:207780
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Abnormal fear-induced behavior, Irritability, Aggressive behavior, Hyperactivity, Anorexia, Macro... ORPHA:3077
Neuropathy, Hereditary, With Liability To Pressure Palsies
Froment sign, Decreased motor nerve conduction velocity, Hand paresthesia, Hypoesthesia, Segmenta... OMIM:162500
Pili Torti-Onychodysplasia Syndrome
Alopecia universalis, Alopecia, Palmoplantar keratoderma, Sparse body hair, Congenital onychodyst... ORPHA:2890
Paraparetic Variant Of Guillain-Barré Syndrome
Peripheral axonal neuropathy, Peripheral demyelination, Impaired distal proprioception ORPHA:231445
Charcot-Marie-Tooth Disease, Axonal, Type 2E
Decreased motor nerve conduction velocity, Impaired pain sensation, Distal sensory impairment, De... OMIM:607684
Charcot-Marie-Tooth Disease, Dominant Intermediate D
Segmental peripheral demyelination/remyelination, Axonal degeneration/regeneration, Distal sensor... OMIM:607791
Zinc Deficiency, Transient Neonatal
Alopecia OMIM:608118
Charcot-Marie-Tooth Disease, Axonal, Type 2L
Decreased number of large peripheral myelinated nerve fibers, Peripheral axonal neuropathy, Decre... OMIM:608673
Immunodeficiency, Common Variable, 6
Abnormal T cell count, Mesangial Immune complex deposition, Stage 5 chronic kidney disease, Abnor... OMIM:613496
Cortisone Reductase Deficiency 1
Alopecia, Hirsutism OMIM:604931
Hair Defect With Photosensitivity And Impaired Intellectual Development
Sparse eyebrow, Coarse hair, Sparse eyelashes, Brittle hair, Sparse hair OMIM:234030
Ichthyosis With Alopecia, Eclabium, Ectropion, And Impaired Intellectual Development
Alopecia OMIM:242510
Ectodermal Dysplasia, Trichoodontoonychial Type
Sparse body hair, Abnormal toenail morphology, Aplasia/Hypoplasia of the eyebrow, Abnormal eyelas... ORPHA:1818
Alopecia Totalis
Alopecia totalis, Alopecia of scalp, Onycholysis, Trachyonychia, Nail pits, Fragile nails ORPHA:700
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis
Alopecia, Sparse eyebrow, Sparse eyelashes, Nail dysplasia, Hypohidrosis OMIM:615704
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 10
Sensory axonal neuropathy, Hypoplasia of the pons, Motor axonal neuropathy, Decreased number of p... OMIM:620542
Ectodermal Dysplasia-Syndactyly Syndrome 1
Alopecia, Coarse hair, Small nail, Hypoplastic toenails, Sparse eyelashes, Patchy alopecia, Pili ... OMIM:613573
Charcot-Marie-Tooth Disease, Recessive Intermediate C
Decreased motor nerve conduction velocity, Somatic sensory dysfunction, Distal sensory impairment... OMIM:615376
Neuropathy, Hereditary Motor And Sensory, Russe Type
Decreased motor nerve conduction velocity, Difficulty walking, Distal sensory impairment, Periphe... OMIM:605285
Ichthyosis, Congenital, Autosomal Recessive 11
Sparse eyebrow, Sparse body hair, Curly eyelashes, Curly hair, Sparse eyelashes, Pili torti, Hypo... OMIM:602400
Olmsted Syndrome 1
Alopecia universalis, Subungual hyperkeratosis, Palmoplantar keratoderma, Orthokeratosis, Hyperpa... OMIM:614594
Spastic Ataxia, Charlevoix-Saguenay Type
Loss of Purkinje cells in the cerebellar vermis, Spastic gait, Falls, Decreased motor nerve condu... OMIM:270550
Bathing Suit Ichthyosis
Alopecia, Nail dystrophy, Parakeratosis, Hypohidrosis, Palmoplantar hyperkeratosis, Scaling skin,... ORPHA:100976
Hypotrichosis 14
Sparse pubic hair, Sparse body hair, Absent axillary hair, Sparse hair, Short eyelashes OMIM:618275
Charcot-Marie-Tooth Disease, Type 4D
Abnormal auditory evoked potentials, Decreased nerve conduction velocity, Distal sensory impairme... OMIM:601455
Charcot-Marie-Tooth Disease, Axonal, Type 2B
Decreased motor nerve conduction velocity, Somatic sensory dysfunction, Decreased compound muscle... OMIM:600882
Clouston Syndrome
Alopecia, Sparse eyebrow, Small nail, Fine hair, Alopecia totalis, Brittle hair, Nail dystrophy, ... OMIM:129500
Huntington Disease
Cerebellar atrophy, Chorea, Gait ataxia, Gliosis, Dementia, Bradykinesia OMIM:143100
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia
Alopecia, Toenail dysplasia, Abnormal fingernail morphology, Fingernail dysplasia, Hypoplastic to... ORPHA:2325
Hypotrichosis 7
Abnormal sweat gland morphology, Sparse eyebrow, Sparse body hair, Sparse eyelashes, Sparse axill... OMIM:604379
Classic Mycosis Fungoides
Erythema, Alopecia, Skin ulcer, Dry skin, Hyperkeratosis, Abnormality of the nail ORPHA:2584
Epidermolysis Bullosa, Junctional 1A, Intermediate
Palmar hyperhidrosis, Nail dystrophy, Patchy alopecia, Plantar hyperkeratosis, Fragile nails OMIM:226650
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Cerebellar atrophy, Tip-toe gait, Decreased motor nerve conduction velocity, Difficulty walking, ... OMIM:302800
Keratoderma Hereditarium Mutilans With Ichthyosis
Alopecia, Orthokeratosis, Palmoplantar keratoderma, Honeycomb palmoplantar hyperkeratosis, Nail d... ORPHA:79395
Trichotillomania
Alopecia OMIM:613229
Pseudoprogeria Syndrome
Alopecia, Sparse eyebrow, Absent eyelashes, Progressive spastic quadriplegia, Absent eyebrow, Spa... ORPHA:2985
Krabbe Disease
Optic atrophy, Decreased nerve conduction velocity, Peripheral demyelination, CNS demyelination, ... OMIM:245200
Multiple Sulfatase Deficiency
Cerebellar atrophy, Rapid neurologic deterioration, Peripheral demyelination, Retinal degeneratio... OMIM:272200
Porphyria Cutanea Tarda
Alopecia, Onycholysis, Facial hypertrichosis OMIM:176100
Adult-onset autosomal dominant leukodystrophy (ADLD)
Peripheral demyelination, Abnormal autonomic nervous system physiology, Leukodystrophy DECIPHER:59
Metachromatic Leukodystrophy
Mental deterioration, Optic atrophy, Decreased nerve conduction velocity, Chorea, Peripheral demy... OMIM:250100
Syndromic X-Linked Intellectual Disability 7
Cryptorchidism, Sparse body hair ORPHA:85274
Neuropathy, Hereditary Sensory, Type Ie
Memory impairment, Dementia, Decreased number of peripheral myelinated nerve fibers, Ataxia, Deli... OMIM:614116
Sabinas Brittle Hair Syndrome
Dry hair, Nail dystrophy, Nail dysplasia, Brittle hair, Sparse hair OMIM:211390
Spastic Paraplegia 11, Autosomal Recessive
Mental deterioration, Macular degeneration, Tip-toe gait, Impaired vibration sensation in the low... OMIM:604360
Autosomal Dominant Hypohidrotic Ectodermal Dysplasia
Abnormal fingernail morphology, Sparse hair, Hypohidrosis, Sparse body hair ORPHA:1810
Woolly Hair, Hypotrichosis, Everted Lower Lip, And Outstanding Ears
Woolly hair, Sparse hair OMIM:278200
Hidrotic Ectodermal Dysplasia, Halal Type
Supernumerary nipple, Abnormal fingernail morphology, Sparse body hair, Abnormal toenail morpholo... ORPHA:1809
Uncombable Hair Syndrome 3
Pili canaliculi, Brittle hair, Uncombable hair, Curly hair OMIM:617252
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Cerebellar dysplasia, Retinal dysplasia OMIM:615041
Squalene Synthase Deficiency
Elevated urine mesaconic acid level, Bilateral cryptorchidism, Hypocholesterolemia, Abnormality o... OMIM:618156
Keratoderma Hereditarium Mutilans
Alopecia, Honeycomb palmoplantar hyperkeratosis, Abnormal toenail morphology, Hyperkeratosis, Abn... ORPHA:494
Spastic Paraplegia With Neuropathy And Poikiloderma
Demyelinating motor neuropathy, Demyelinating sensory neuropathy, Onion bulb formation OMIM:182815
Neutropenia, Severe Congenital, 9, Autosomal Dominant
Cataract, Splenomegaly, 3-Methylglutaconic aciduria OMIM:619813
Schöpf-Schulz-Passarge Syndrome
Alopecia, Palmoplantar keratoderma, Aplasia/Hypoplasia of the eyebrow, Sparse hair, Ovarian neoplasm ORPHA:50944
Slowed Nerve Conduction Velocity, Autosomal Dominant
Decreased nerve conduction velocity, Peripheral demyelination, Onion bulb formation OMIM:608236
Autosomal Spastic Paraplegia Type 58
Cerebellar atrophy, Tip-toe gait, Peripheral demyelination, Chorea, Gait ataxia, Dysmetria, Spast... ORPHA:397946
X-Linked Hypohidrotic Ectodermal Dysplasia
Sparse body hair, Hypohidrosis, Aplasia/Hypoplasia of the eyebrow, Sparse hair, Anterior hypopitu... ORPHA:181
Intellectual Developmental Disorder, X-Linked 21
Macroorchidism, Hyperactivity, Impulsivity, Synophrys OMIM:300143
Ectodermal Dysplasia 9, Hair/Nail Type
Abnormal sweat gland morphology, Abnormal sebaceous gland morphology, Atrichia, Absent hair, Nail... OMIM:614931
Focal Facial Dermal Dysplasia Type I
Sparse lateral eyebrow, Low anterior hairline, Absent eyelashes, Distichiasis, Sparse hair ORPHA:79133
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques
Erythema, Alopecia, Palmoplantar keratoderma, Skin ulcer, Abnormal fingernail morphology, Palmopl... ORPHA:659
Palmoplantar Keratoderma And Woolly Hair
Sparse eyebrow, Palmoplantar keratoderma, Sparse body hair, Leukonychia, Sparse eyelashes, Woolly... OMIM:616099
Fragile X Syndrome
Recurrent hand flapping, Macroorchidism, postpubertal, Hyperactivity, Self-biting, Congenital mac... OMIM:300624
Witkop Syndrome
Abnormal sweat gland morphology, Fine hair, Ridged nail, Concave nail, Hypoplastic fifth toenail,... OMIM:189500
47,Xyy Syndrome
Varicocele, Azoospermia, Cryptorchidism, Congenital stationary night blindness, Attention deficit... ORPHA:8
Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive
Decreased motor nerve conduction velocity, Abnormal cranial nerve morphology, Onion bulb formatio... OMIM:605253
Intellectual Developmental Disorder, X-Linked 14
Macroorchidism OMIM:300062
Congenital Ichthyosiform Erythroderma
Alopecia, Hypohidrosis, Palmoplantar keratoderma, Abnormality of the nail ORPHA:79394
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Cardiomegaly, Macroorchidism OMIM:300886
Trichothiodystrophy 8, Nonphotosensitive
Sparse hair, Sparse eyebrow, Spasticity, Trichorrhexis nodosa, Ankle clonus, Babinski sign, Cutis... OMIM:619691
Autosomal Recessive Spastic Paraplegia Type 35
Mental deterioration, Optic atrophy, Cerebellar atrophy, Difficulty walking, Peripheral demyelina... ORPHA:171629
Hypotrichosis And Recurrent Skin Vesicles
Sparse eyebrow, Sparse body hair, Leukonychia, Sparse eyelashes, Sparse axillary hair, Skin vesic... OMIM:613102
Nephronophthisis 16
Periportal fibrosis, Nephronophthisis, Cholestasis, Stage 5 chronic kidney disease, Renal insuffi... OMIM:615382
Mucopolysaccharidosis-Plus Syndrome
Chorioretinal hypopigmentation, Low posterior hairline, Neutropenia, Hepatomegaly, Nephrotic synd... OMIM:617303
Neuromyelitis Optica Spectrum Disorder
Optic neuritis, Peripheral demyelination, Somatic sensory dysfunction ORPHA:71211
Spinocerebellar Ataxia 25
Cerebellar atrophy, Impaired pain sensation, Decreased number of peripheral myelinated nerve fibe... OMIM:608703
Methionine Adenosyltransferase I/Iii Deficiency
Peripheral demyelination, CNS demyelination OMIM:250850
Focal Facial Dermal Dysplasia 3, Setleis Type
Distichiasis, Sparse hair, Absent lower eyelashes, Low anterior hairline OMIM:227260
Hypotrichosis 13
Abnormal sweat gland morphology, Sparse hair, Woolly hair, Sparse eyelashes OMIM:615896
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Sparse eyebrow, Hypocholesterolemia, Hepatomegaly, Developmental cataract, Brittle hair, Micropen... OMIM:618810
X-Linked Intellectual Disability-Macrocephaly-Macroorchidism Syndrome
Macroorchidism ORPHA:85320
46,Xy Gonadal Dysgenesis With Minifascicular Neuropathy
Impaired distal tactile sensation, Impaired distal vibration sensation, Decreased number of perip... OMIM:607080
Glut1 Deficiency Syndrome 1
Paroxysmal lethargy, Spasticity, Myoclonus, Hemiparesis, Babinski sign, Lethargy, Paralysis, Atax... OMIM:606777
Hawkinsinuria
Hypothyroidism, Sparse hair, Fine hair ORPHA:2118
Intellectual Developmental Disorder, X-Linked 2
Macroorchidism OMIM:300428
Hypotrichosis 12
Abnormal sweat gland morphology, Sparse pubic hair, Dry hair, Sparse or absent eyelashes, Sparse ... OMIM:615885
Choroidal Atrophy-Alopecia Syndrome
Ridged fingernail, Fine hair, Supernumerary nipple, Abnormal fingernail morphology, Bifid nail, T... ORPHA:1433
Charcot-Marie-Tooth Disease Type 2B1
Sensory axonal neuropathy, Decreased motor nerve conduction velocity, Decreased amplitude of sens... ORPHA:98856
Autosomal Recessive Palmoplantar Keratoderma And Congenital Alopecia
Alopecia totalis, Palmoplantar keratoderma, Nail dystrophy, Lack of skin elasticity ORPHA:1366
Fibrodysplasia Ossificans Progressiva
Alopecia ORPHA:337
Cerebral Arteriopathy, Autosomal Recessive, With Subcortical Infarcts And Leukoencephalopathy
Alopecia, Spasticity, Dysmetria, Rigidity, Abnormality of extrapyramidal motor function, Babinski... OMIM:600142
Charcot-Marie-Tooth Disease, Type 4B1
Abnormal auditory evoked potentials, Decreased motor nerve conduction velocity, Irregular myelin ... OMIM:601382
Pachyonychia Congenita
Onychogryposis of fingernail, Alopecia, Palmoplantar keratoderma, Onychogryposis of toenails, Fin... ORPHA:2309
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Male hypogonadism, Bruxism, Emotional lability, Juvenile cataract, Macroorchidism, Restlessness OMIM:300055
Ectodermal Dysplasia 11A, Hypohidrotic/Hair/Tooth Type, Autosomal Dominant
Absent nipple, Absent hair, Dry skin, Anhidrosis, Hypohidrosis, Brittle hair, Sparse hair OMIM:614940
Alopecia-Intellectual Disability Syndrome
Alopecia, Aplasia/Hypoplasia of the eyebrow, Sparse scalp hair, Sparse body hair ORPHA:2850
Intermediate Generalized Junctional Epidermolysis Bullosa
Palmoplantar keratoderma, Sparse body hair, Nail dystrophy, Scarring alopecia of scalp, Anonychia ORPHA:79402
Odontoonychodermal Dysplasia
Erythema, Dry hair, Sparse body hair, Dry skin, Follicular hyperkeratosis, Thin nail, Sparse eyeb... OMIM:257980
Megalencephaly
Macroorchidism, Long penis ORPHA:2477
Ectodermal Dysplasia 11B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive
Absent nipple, Xerostomia, Sparse lateral eyebrow, Periorbital wrinkles, Sparse body hair, Dry sk... OMIM:614941
Abetalipoproteinemia
Peripheral demyelination, Retinopathy, Retinal degeneration, CNS demyelination, Ataxia OMIM:200100
Mitochondrial Dna Depletion Syndrome 7 (Hepatocerebral Type)
Optic atrophy, Sensory axonal neuropathy, Cerebellar atrophy, Loss of ambulation, Ataxia, Decreas... OMIM:271245
Bardet-Biedl Syndrome 18
Cataract, Stage 5 chronic kidney disease, Renal insufficiency, Rod-cone dystrophy, Retinal dystrophy OMIM:615995
Woolly Hair
Sparse lateral eyebrow, Fine hair, Sparse body hair, Slow-growing hair, Brittle hair, Abnormality... ORPHA:170
Uncombable Hair Syndrome 1
Dry hair, Pili canaliculi, Uncombable hair OMIM:191480
Birdshot Chorioretinopathy
Cataract, Choroidal neovascularization, Abnormal chorioretinal morphology, Retinal thinning, Epir... ORPHA:179
Bazex-Dupre-Christol Syndrome
Coarse hair, Trichorrhexis nodosa, Pili torti, Hypohidrosis, Sparse hair, Trichoepithelioma OMIM:301845
Charcot-Marie-Tooth Disease Type 4A
Impaired pain sensation, Inability to walk, Decreased nerve conduction velocity, Decreased number... ORPHA:99948
Flynn-Aird Syndrome
Alopecia, Primary adrenal insufficiency, Skin ulcer, Ataxia ORPHA:2047
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome
Inferior cerebellar vermis hypoplasia, Cerebellar dysplasia, Dilated fourth ventricle, Elongated ... ORPHA:370022
Xq27.3Q28 Duplication Syndrome
Decreased testicular size, Cryptorchidism, Sparse body hair ORPHA:261483
Tangier Disease
Impaired pain sensation, Impaired temperature sensation, Peripheral demyelination, Facial diplegi... OMIM:205400
Hypotrichosis 8
Sparse eyebrow, Dry hair, Coarse hair, Fair hair, Ridged nail, Sparse eyelashes, Sparse axillary ... OMIM:278150
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant
Alopecia, Sparse eyebrow, Palmoplantar keratoderma, Nail dystrophy, Sparse eyelashes, Nail dyspla... OMIM:612843
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis, Frontotemporal dementia, Gliosis, Axonal loss, Athetosis OMIM:300857
Progressive Non-Fluent Aphasia
Mental deterioration, Memory impairment, Astrocytosis, Abnormal lower motor neuron morphology, Fr... ORPHA:100070
Lichen Planopilaris
Alopecia, Skin ulcer, Abnormal fingernail morphology, Onycholysis, Hyperkeratosis ORPHA:525
Mental retardation, x-linked, syndromic, Turner type
Macroorchidism OMIM:300706
Leber Congenital Amaurosis 1
Hyperthreoninuria, Keratoconus, Cataract, Pigmentary retinopathy, Attenuation of retinal blood ve... OMIM:204000
Fragile X Syndrome
Self-injurious behavior, Attention deficit hyperactivity disorder, Macroorchidism, Irritability ORPHA:908
Bazex-Dupré-Christol Syndrome
Sparse eyebrow, Coarse hair, Trichorrhexis nodosa, Sparse or absent eyelashes, Pili torti, Sparse... ORPHA:113
Olmsted Syndrome 2
Alopecia universalis, Palmoplantar keratoderma, Perioral hyperkeratosis, Woolly hair, Parakeratos... OMIM:619208
Non-Acquired Isolated Growth Hormone Deficiency
Sparse hair, Anterior hypopituitarism, Premature skin wrinkling ORPHA:631
Charcot-Marie-Tooth Disease, Type 4B3
Decreased nerve conduction velocity, Distal sensory impairment, Loss of ambulation, Gait disturba... OMIM:615284
Nephronophthisis 2
Nephronophthisis, Hyperechogenic kidneys, Elevated circulating creatinine concentration, Stage 5 ... OMIM:602088
Nicolaides-Baraitser Syndrome
Highly arched eyebrow, Alopecia, Long eyelashes, Curly eyelashes, Cryptorchidism, Excessive wrink... ORPHA:3051
17Q11.2 Microduplication Syndrome
Macroorchidism, Sparse eyebrow, Sparse eyelashes ORPHA:139474
Trichodental Dysplasia
Sparse hair, Slow-growing hair, Fine hair, Brittle hair OMIM:601453
Classic Glucose Transporter Type 1 Deficiency Syndrome
Spasticity, Chorea, Myoclonus, Hemiparesis, Paralysis, Lethargy, Apraxia, Hypertonia, Ataxia, Cho... ORPHA:71277
Olmsted Syndrome, X-Linked
Subungual hyperkeratosis, Palmoplantar keratoderma, Alopecia totalis, Parakeratosis, Palmoplantar... OMIM:300918
Aa Amyloidosis
Nephropathy, Chronic kidney disease, Acute kidney injury, Renal amyloidosis, Cholestasis, Protein... ORPHA:85445
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency
Alopecia, Hand tremor, Difficulty walking, Speech apraxia, Head tremor, Limb ataxia, Postural tre... ORPHA:412057
Xp22.13P22.2 Duplication Syndrome
High anterior hairline, Polycystic ovaries, Attention deficit hyperactivity disorder, Macroorchid... ORPHA:284180
Lelis Syndrome
Yellow nails, Sparse lateral eyebrow, Nail dystrophy, Abnormal toenail morphology, Hypohidrosis, ... ORPHA:140936
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatic fibrosis, Periportal fibrosis, Multiple small medullary renal cysts, Hyperechogenic kidne... OMIM:263200
Alpha-Methylacyl-Coa Racemase Deficiency
Cataract, Pigmentary retinopathy, Depression, Elevated circulating phytanic acid concentration, A... OMIM:614307
Ichthyosis, Congenital, Autosomal Recessive 1
Alopecia, Nail dystrophy, Nail dysplasia, Parakeratosis, Palmoplantar hyperkeratosis, Sparse hair OMIM:242300
Meckel Syndrome, Type 8
Ambiguous genitalia, Polycystic kidney dysplasia, Enlarged kidney, Hyperechogenic kidneys OMIM:613885
Hypobetalipoproteinemia, Familial, 1
Decreased HDL cholesterol concentration, Hypocholesterolemia, Acanthocytosis, Retinal degeneratio... OMIM:615558
H Syndrome
Corneal arcus, Alopecia, Hypertrichosis, Hypogonadism, Decreased testicular size, Azoospermia, Mi... ORPHA:168569
Glycogen Storage Disease Ib
Focal segmental glomerulosclerosis, Decreased glomerular filtration rate, Xanthelasma, Hyperlipid... OMIM:232220
Nephronophthisis 3
Hepatic fibrosis, Nephronophthisis, Polydipsia, Stage 5 chronic kidney disease, Renal insufficien... OMIM:604387
Neuropathy, Hereditary Sensory, X-Linked
Decreased number of peripheral myelinated nerve fibers OMIM:310470
Wagner Vitreoretinopathy
Peripheral tractional retinal detachment, Cataract, Optic atrophy, Exudative vitreoretinopathy, V... OMIM:143200
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma
Alopecia, Sparse eyebrow, Palmoplantar keratoderma, Palmoplantar scaling skin, Nail dystrophy, Sp... OMIM:605676
Galactosemia Iv
Hepatomegaly, Cataract, Prolonged neonatal jaundice, Hypergalactosemia OMIM:618881
Heyn-Sproul-Jackson Syndrome
Sparse hair OMIM:618724
Galactosemia Ii
Prolonged neonatal jaundice, Galactosuria, Hypergalactosemia, Cataract OMIM:230200
Peroxisome Biogenesis Disorder 3B
Elevated circulating phytanic acid concentration, Hypocholesterolemia, Hepatomegaly, Rod-cone dys... OMIM:266510
Trichothiodystrophy 5, Nonphotosensitive
Sparse eyebrow, Broad-based gait, Reduced hair sulfur content, Decreased testicular size, Tiger t... OMIM:300953
Partington Syndrome
Macroorchidism ORPHA:94083
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome
Small pituitary gland, Alopecia, Central adrenal insufficiency, Upper motor neuron dysfunction OMIM:612079
Mccune-Albright Syndrome
Renal phosphate wasting, Precocious puberty, Bone marrow hypocellularity, Increased circulating c... ORPHA:562
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Alopecia, Hypopigmentation of hair ORPHA:1067
Charcot-Marie-Tooth Disease Type 1F
Impaired vibratory sensation, Optic nerve hypoplasia, Demyelinating sensory neuropathy, Somatic s... ORPHA:101085
Corpus Callosum, Agenesis Of, With Facial Anomalies And Cerebellar Ataxia
Long eyelashes, Thick eyebrow, Hirsutism, Low anterior hairline, Ataxia, Sparse hair OMIM:616819
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Cataract, Renal dysplasia, Increased total bilirubin, Elevated circulating creatinine concentrati... OMIM:608836
Autosomal Dominant Polycystic Kidney Disease
Chronic kidney disease, Abnormal urinary electrolyte concentration, Recurrent urinary tract infec... ORPHA:730
Lethal Congenital Contracture Syndrome 8
Facial diplegia, Distal sensory impairment, Peripheral hypomyelination OMIM:616287
Intellectual Developmental Syndrome With Alopecia, Contractures, And Dwarfism
Alopecia OMIM:203550
Phenylketonuria
Cataract, Depression, Elevated urinary gamma-glutamylphenylalanine level, Increased level of hipp... OMIM:261600
Hypertrichosis, Congenital Anterior Cervical, With Peripheral Sensory And Motor Neuropathy
Anterior cervical hypertrichosis OMIM:239840
Intellectual Developmental Disorder, X-Linked, Syndromic, Shashi Type
Macroorchidism OMIM:300238
Rhizomelic Chondrodysplasia Punctata
Dry skin, Alopecia, Sparse body hair ORPHA:177
Menkes Disease
Alopecia, Babinski sign, Cutis laxa, Hypertonia, Brittle hair, Sparse hair OMIM:309400
Lipoid Proteinosis Of Urbach And Wiethe
Patchy alopecia, Hyperkeratosis OMIM:247100
Congenital Megacalycosis
Abnormal renal physiology, Recurrent urinary tract infections, Nephrolithiasis, Hydronephrosis, R... ORPHA:93109
Dermatopathia Pigmentosa Reticularis
Palmoplantar hyperkeratosis, Hypohidrosis, Alopecia of scalp, Nail dystrophy OMIM:125595
Renal-Hepatic-Pancreatic Dysplasia 1
Cholestasis, Cirrhosis, Hepatomegaly, Polycystic kidney dysplasia, Renal dysplasia, Bile duct pro... OMIM:208540
Charcot-Marie-Tooth Disease, Dominant Intermediate E
Axonal loss, Steppage gait, Onion bulb formation, Distal sensory impairment OMIM:614455
Spinocerebellar Ataxia 13
Optic atrophy, Cerebellar atrophy, Limb ataxia, Gait ataxia, Limb dysmetria, Cognitive impairment... OMIM:605259
Adrenoleukodystrophy
Spastic paraplegia, Alopecia, Incoordination, Limb ataxia, Primary adrenal insufficiency, Parapar... OMIM:300100
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 3
Difficulty walking, Paralysis OMIM:608634
Hemifacial Atrophy, Progressive
Patchy alopecia, Poliosis, Ataxia OMIM:141300
Focal Facial Dermal Dysplasia Type Iii
Highly arched eyebrow, Sparse lateral eyebrow, Redundant skin, Distichiasis, Abnormal hair patter... ORPHA:1807
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits
Spasticity, Inability to walk, Dysmetria, Hirsutism, Oculomotor apraxia, Limb hypertonia, Ataxia,... OMIM:618087
Idiopathic Trachyonychia
Toenail dysplasia, Fingernail dysplasia, Ridged nail, Nail dystrophy, Patchy alopecia, Circumungu... ORPHA:79153
Woolly Hair, Autosomal Dominant
Dry hair, Coarse hair, Abnormal eyebrow morphology, Slow-growing hair, Abnormal eyelash morpholog... OMIM:194300
Ectodermal Dysplasia 10B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive
Sparse eyebrow, Periorbital wrinkles, Sparse eyelashes, Hypohidrosis, Anhidrosis, Sparse hair OMIM:224900
Systemic Lupus Erythematosus 17
Alopecia, Chorea OMIM:301080
Hereditary Mucoepithelial Dysplasia
Alopecia, Sparse hair, Hyperkeratosis, Fine hair ORPHA:1839
Bile Acid Synthesis Defect, Congenital, 1
Giant cell hepatitis, Intrahepatic cholestasis, Hypocholesterolemia, Splenomegaly, Hepatomegaly, ... OMIM:607765
Paternal Uniparental Disomy Of Chromosome 1
Abnormal retinal morphology on macular OCT, Proteinuria, Polyphagia, Episodic hemolytic anemia, I... ORPHA:251004
Renal Dysplasia
Chronic kidney disease, Thickened glomerular basement membrane, Multicystic kidney dysplasia, Ure... ORPHA:93108
Intellectual Developmental Disorder, Autosomal Recessive 5
Broad-based gait, Spasticity, Thick eyebrow, Hypertonia, Sparse hair, Synophrys OMIM:611091
Gand Syndrome
Sparse hair OMIM:615074
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Hirsutism, Enlarged polycystic ovaries, Polycystic ovaries, Elevated circulating growth hormone c... ORPHA:90301
Leukodystrophy, Hypomyelinating, 5
Delayed brainstem auditory evoked response conduction time, CNS hypomyelination, Decreased motor ... OMIM:610532
Ectodermal Dysplasia-Blindness Syndrome
Skin ulcer, Fine hair, Abnormal fingernail morphology, Hypohidrosis, Sparse hair, Hyperkeratosis ORPHA:1806
Alpha-Heavy Chain Disease
Alopecia ORPHA:100025
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Highly arched eyebrow, Alopecia, Sparse lateral eyebrow, Dystrophic toenail, Nail dystrophy, Dyst... ORPHA:3253
Sézary Syndrome
Alopecia, Palmoplantar keratoderma, Dry skin, Nail dystrophy, Tremor ORPHA:3162
Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration
Mental deterioration, Optic atrophy, Cerebellar atrophy, Difficulty walking, Dysmetria, Ataxia, D... OMIM:612319
Niemann-Pick Disease, Type B
Abnormal macular morphology, Sea-blue histiocytosis, Increased LDL cholesterol concentration, Hyp... OMIM:607616
Cardiofaciocutaneous Syndrome 4
Decreased response to growth hormone stimulation test, Alopecia of scalp, Sparse eyelashes, Absen... OMIM:615280
Atkin-Flaitz Syndrome
Macroorchidism ORPHA:1193
Atypical Juvenile Parkinsonism
Short stepped shuffling gait, Shuffling gait, Involuntary movements, Resting tremor, Inability to... ORPHA:391411
Pelizaeus-Merzbacher Disease
Mental deterioration, Optic atrophy, Broad-based gait, CNS hypomyelination, Sudanophilic leukodys... OMIM:312080
Lujan-Fryns Syndrome
Attention deficit hyperactivity disorder, Macroorchidism ORPHA:776
Prolactin Deficiency With Obesity And Enlarged Testes
Macroorchidism, Reduced circulating prolactin concentration OMIM:264120
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis
Hypocholesterolemia, Decreased LDL cholesterol concentration, Developmental cataract, Decreased H... OMIM:616834
Cardiofaciocutaneous Syndrome 2
Sparse hair, Absent eyebrow, Fine hair, Curly hair OMIM:615278
Combined Oxidative Phosphorylation Defect Type 7
Optic atrophy, Difficulty walking, Inability to walk, Facial diplegia, Distal sensory impairment,... ORPHA:254930
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma
Alopecia, Palmoplantar keratoderma, Dry skin, Alopecia of scalp, Nail dystrophy, Multinodular goi... OMIM:618373
Trisomy 20P
Abnormal localization of kidney, Highly arched eyebrow, Coarse hair, Abnormality of the ureter, T... ORPHA:261318
Glycosylphosphatidylinositol Biosynthesis Defect 25
Sparse hair, Coarse hair OMIM:619985
Progeroid Syndrome, Petty Type
Abnormal hair morphology, Thick eyebrow, Long eyelashes in irregular rows, Redundant skin, Genera... ORPHA:2963
Rapp-Hodgkin Syndrome
Sparse hair, Sparse eyebrow, Palmoplantar keratoderma, Small nail, Decreased number of sweat glan... OMIM:129400
Dyskeratosis Congenita, Autosomal Recessive 6
Alopecia, Sparse hair, Nail dystrophy, Ataxia OMIM:616353
Rhizomelic Chondrodysplasia Punctata, Type 1
Alopecia, Spasticity OMIM:215100
Ectodermal Dysplasia-Sensorineural Deafness Syndrome
Sparse hair, Brittle hair, Hyperkeratosis, Coarse hair ORPHA:1883
Potocki-Lupski Syndrome
Oral-pharyngeal dysphagia, Hypocholesterolemia, Abnormal renal morphology, Hyperactivity, Motor s... OMIM:610883
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Aggressive behavior, Macroorchidism, Hyperactivity, Elevated circulating growth hormone concentra... ORPHA:85327
Congenital Disorder Of Glycosylation, Type Il
Hypoalbuminemia, Ascites, Hypocholesterolemia, Splenomegaly, Hepatomegaly, Polycystic kidney dysp... OMIM:608776
Polyembryoma
Abnormal peritoneum morphology, Isosexual precocious puberty, Macroorchidism, Abdominal mass, Ele... ORPHA:180229
Corticobasal Syndrome
Involuntary movements, Limb myoclonus, Progressive extrapyramidal muscular rigidity, Speech aprax... ORPHA:454887
Proteasome-Associated Autoinflammatory Syndrome 5
Hepatomegaly, Splenomegaly, Hypertriglyceridemia OMIM:619175
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type)
Difficulty walking, Paralysis, Lethargy OMIM:613710
Hypomelanosis Of Ito
Alopecia OMIM:300337
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2
Spasticity, Fine hair, Gait ataxia, Cryptorchidism, Hypothyroidism, Truncal ataxia, Kinetic tremo... OMIM:616817
Glycogen Storage Disease Ia
Focal segmental glomerulosclerosis, Decreased glomerular filtration rate, Xanthelasma, Hyperlipid... OMIM:232200
Cronkhite-Canada Syndrome
Alopecia, Dystrophic toenail, Sparse body hair, Abnormal fingernail morphology, Hypoplastic toena... ORPHA:2930
Tetraamelia With Ectodermal Dysplasia And Lacrimal Duct Abnormalities
Sparse hair, Cryptorchidism OMIM:273390
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Recurrent pancreatitis, Splenomegaly, Hyperlipoproteinemia OMIM:118830
Isolated Thyroid-Stimulating Hormone Deficiency
Neonatal hyperbilirubinemia, Depression, Increased circulating prolactin concentration, Goiter, P... ORPHA:90674
Charcot-Marie-Tooth Disease-Deafness-Intellectual Disability Syndrome
Decreased amplitude of sensory action potentials, Decreased nerve conduction velocity, Gait ataxi... ORPHA:90103
Johnson Neuroectodermal Syndrome
Alopecia, Absent eyelashes, Hypohidrosis, Absent eyebrow, Sparse hair ORPHA:2316
Denys-Drash Syndrome
Nephropathy, Focal segmental glomerulosclerosis, Ovarian gonadoblastoma, Uterus didelphys, Gonada... OMIM:194080
Hypotrichosis-Lymphedema-Telangiectasia Syndrome
Abnormal sweat gland morphology, Alopecia, Absent eyelashes, Absent eyebrow, Abnormality of the n... OMIM:607823
Lamellar Ichthyosis
Dry skin, Lack of skin elasticity, Aplasia/Hypoplasia of the eyebrow, Sparse hair, Hyperkeratosis... ORPHA:313
Trigeminal Neuralgia
Somatic sensory dysfunction, Cranial nerve compression, Peripheral demyelination, Paresthesia, CN... ORPHA:221091
Immunodeficiency, Common Variable, 12, With Autoimmunity
Pyoderma gangrenosum, Alopecia OMIM:616576
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Chorea, Paresthesia, Abnormality of peripheral nerve conduction, Dysmetria, Peripheral hypomyelin... ORPHA:48431
Giant Axonal Neuropathy 1, Autosomal Recessive
Sensory axonal neuropathy, Abnormal cerebellum morphology, Distal sensory impairment, Decreased n... OMIM:256850
Functioning Gonadotropic Adenoma
Pituitary gonadotropic cell adenoma, Decreased response to growth hormone stimulation test, Panhy... ORPHA:91348
Autoimmune Polyendocrinopathy Type 2
Alopecia, Graves disease, Primary adrenal insufficiency, Hashimoto thyroiditis, Hypoparathyroidism ORPHA:3143
Alopecia Antibody Deficiency
Abnormal eyelash morphology, Aplasia/Hypoplasia of the eyebrow, Sparse hair, Sparse body hair ORPHA:1006
Bilateral Frontoparietal Polymicrogyria
Cerebellar vermis hypoplasia, Hypoplasia of the pons, Cerebellar dysplasia, Gait imbalance, Abnor... ORPHA:101070
Polyendocrine-Polyneuropathy Syndrome
Alopecia, Central hypothyroidism, Decreased testicular size, Abnormal pyramidal sign, Anterior pi... ORPHA:453533
Alopecia Universalis
Alopecia universalis, Absent eyelashes, Patchy alopecia, Absent eyebrow, Abnormality of the nail ORPHA:701
Adult Syndrome
Alopecia, Toenail dysplasia, Absent nipple, Skin ulcer, Fine hair, Breast hypoplasia, Fingernail ... ORPHA:978
Shukla-Vernon Syndrome
Broad-based gait, Sparse hair OMIM:301029
Chanarin-Dorfman Syndrome
Alopecia, Ataxia OMIM:275630
Pandas
Depression, Abnormal fear-induced behavior, Oppositional defiant disorder, Obsessive-compulsive t... ORPHA:66624
Clark-Baraitser syndrome
Macroorchidism OMIM:300602
Hypotrichosis-Intellectual Disability, Lopes Type
Sparse hair ORPHA:2266
Kaposiform Lymphangiomatosis
Hepatosplenomegaly, Lymphangioma, Abnormal lymphatic vessel morphology, Abnormality of the lympha... ORPHA:464329
Cone-Rod Dystrophy 16
Cataract, Attenuation of retinal blood vessels, Cone/cone-rod dystrophy, Beaten bronze macular sh... OMIM:614500
Senior-Loken Syndrome
Chronic kidney disease, Cataract, Nephronophthisis, Stage 5 chronic kidney disease, Abnormality o... ORPHA:3156
Maternal Uniparental Disomy Of Chromosome 4
Optic atrophy, Pigmentary retinopathy, Depression, Hypocholesterolemia, Abnormal erythrocyte morp... ORPHA:96180
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Alopecia, Sparse eyebrow, Orthokeratosis, Dry skin, Sparse eyelashes, Parakeratosis, Thick hair, ... OMIM:607626
East Syndrome
Cerebellar atrophy, Difficulty walking, Inability to walk, Hyperaldosteronism, Peripheral hypomye... ORPHA:199343
Holocarboxylase Synthetase Deficiency
Lethargy, Alopecia, Ataxia ORPHA:79242
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Mental deterioration, Optic atrophy, Memory impairment, Pigmentary retinopathy, Abnormality of ma... ORPHA:79282
Hereditary Bullous Dystrophy, Macular Type
Alopecia, Atrichia, Decreased testicular size, Nail dystrophy, Cryptorchidism, Congenital abnorma... ORPHA:1867
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Cataract, Cryptorchidism, Hepatomegaly, Optic disc pallor, Ectopic kidney, Cystic renal dysplasia OMIM:613730
Alopecia-Intellectual Disability Syndrome 4
Alopecia, Bilateral cryptorchidism OMIM:618840
Congenital Short Bowel Syndrome
Sparse hair ORPHA:2301
Hydrocephalus-Obesity-Hypogonadism Syndrome
Low posterior hairline, Absent facial hair, Sparse facial hair ORPHA:2183
Incontinentia Pigmenti
Erythema, Alopecia, Coarse hair, Spasticity, Fine hair, Supernumerary nipple, Breast aplasia, Bre... OMIM:308300
Jaberi-Elahi Syndrome
Sparse eyebrow, Broad-based gait, Fine hair, Inability to walk, Gait ataxia, Dysmetria, Sparse ey... OMIM:617988
Centrifugal Lipodystrophy
Erythema, Alopecia, Scaling skin ORPHA:90156
Fg Syndrome 3
Sparse hair, Frontal upsweep of hair, Cryptorchidism, Fine hair OMIM:300406
Coenzyme Q10 Deficiency, Primary, 8
Peripheral demyelination OMIM:616733
Cholestasis, Progressive Familial Intrahepatic, 10
Hypoalbuminemia, Portal fibrosis, Increased total bilirubin, Splenomegaly, Increased serum bile a... OMIM:619868
Non-Functioning Pituitary Adenoma
Secondary growth hormone deficiency, Male hypogonadism, Hypopituitarism, Decreased response to gr... ORPHA:91349
Eem Syndrome
Absent eyebrow, Sparse scalp hair, Sparse body hair ORPHA:1897
Autosomal Recessive Polycystic Kidney Disease
Cholestasis, Hepatosplenomegaly, Hypersplenism, Congenital hepatic fibrosis, Increased serum bile... ORPHA:731
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Optic atrophy, Difficulty walking, Impaired vibration sensation in the lower limbs, Decreased num... ORPHA:320406
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome
Alopecia, Abnormal toenail morphology, Hypohidrosis, Sparse hair, Hyperkeratosis ORPHA:1005
Zellweger-Like Syndrome Without Peroxisomal Anomalies
Alopecia, Brittle hair ORPHA:50812
Charcot-Marie-Tooth Disease, Axonal, Type 2K
Axonal regeneration, Decreased motor nerve conduction velocity, Distal sensory impairment, Decrea... OMIM:607831
Hypotrichosis Simplex Of The Scalp
Sparse scalp hair, Fine hair, Alopecia of scalp, Parakeratosis, Scaling skin, Hyperkeratosis, Slo... ORPHA:90368
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor
Enlarged kidney, Nephroblastoma OMIM:618272
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Alopecia, Sparse body hair, Absent eyelashes, Absent eyebrow, Hydrocele testis, Sparse scalp hair ORPHA:69735
Oculocerebrocutaneous Syndrome
Alopecia, Cryptorchidism OMIM:164180
Leber Congenital Amaurosis 2
Cataract, Keratoconus, Pigmentary retinopathy, Attenuation of retinal blood vessels, Eye poking, ... OMIM:204100
Filippi Syndrome
Frontal hirsutism, Sparse hair, Cryptorchidism, Hypertrichosis OMIM:272440
Congenital Disorder Of Glycosylation, Type Im
Alopecia, Sparse eyebrow, Dry skin, Sparse eyelashes, Tetraplegia, Hyperkeratosis OMIM:610768
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Hypoalbuminemia, Bone marrow hypocellularity, Optic atrophy, Conjunctivitis, Hypertrichosis, Hepa... ORPHA:505248
Kufor-Rakeb Syndrome
Spastic paraplegia, Spasticity, Akinesia, Myoclonus, Tremor, Rigidity, Babinski sign, Parkinsonis... OMIM:606693
Renal-Hepatic-Pancreatic Dysplasia 2
Malformation of the hepatic ductal plate, Hepatic fibrosis, Cholestasis, Hepatic cysts, Hepatomeg... OMIM:615415
Cholestasis, Progressive Familial Intrahepatic, 12
Cholestasis, Hyperbilirubinemia, Splenomegaly, Increased serum bile acid concentration, Proteinur... OMIM:620010
X-Linked Intellectual Disability, Shashi Type
Macroorchidism ORPHA:85286
Cutaneous Telangiectasia And Cancer Syndrome, Familial
Alopecia, Yellow nails, Sparse lateral eyebrow, Ridged nail, Nail dystrophy, Onycholysis OMIM:614564
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Emotional lability, Low frustration tolerance, Aggressive behavior, Hyperactivity, Compulsive beh... OMIM:309520
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome
Blepharospasm, Short stepped shuffling gait, Falls, Akinesia, Gait imbalance, Freezing of gait, L... ORPHA:240094
Chylomicron Retention Disease
Hypoalbuminemia, Hypotriglyceridemia, Hypocholesterolemia, Decreased LDL cholesterol concentratio... OMIM:246700
Incontinentia Pigmenti
Erythema, Alopecia, Ridged fingernail, Spasticity, Dystrophic toenail, Skin ulcer, Supernumerary ... ORPHA:464
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb
Hypospadias, Sparse eyebrow, Alopecia of scalp, Sparse eyelashes, Macroorchidism, Iris coloboma OMIM:618874
Gomez-Lopez-Hernandez Syndrome
Decreased response to growth hormone stimulation test, Alopecia, Hypertonia, Ataxia OMIM:601853
Tetrasomy 12P
Sparse eyebrow, Sparse hair, Hypohidrosis ORPHA:884
Tooth Agenesis, Selective, 4
Sparse eyebrow, Sparse scalp hair, Dystrophic toenail, Sparse body hair, Dry skin, Dystrophic fin... OMIM:150400
Tricho-Retino-Dento-Digital Syndrome
Sparse hair, Uncombable hair ORPHA:1264
Trimethylaminuria
Depression, Splenomegaly, Trimethylaminuria, Neutropenia, Anemia OMIM:602079
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Decreased nerve conduction velocity, Peripheral demyelination, Short-segment aganglionic megacolo... OMIM:609136
Igg4-Related Kidney Disease
Chronic kidney disease, Lymphadenitis, Urethritis, Abnormal mesentery morphology, Hematuria, Pros... ORPHA:449395
Galactose Epimerase Deficiency
Aminoaciduria, Cataract, Splenomegaly, Hepatomegaly, Jaundice ORPHA:79238
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Abnormal female external genitalia morphology, Endometrial carcinoma, Adrenal hyperplasia, Hypona... ORPHA:90790
Isolated Follicle Stimulating Hormone Deficiency
Male hypogonadism, Sparse pubic hair, Decreased testicular size, Azoospermia, Gonadotropin defici... ORPHA:52901
Epidermolysis Bullosa Simplex With Muscular Dystrophy
Hyperconvex fingernails, Alopecia, Skin vesicle, Hypoplastic fingernail ORPHA:257
Anauxetic Dysplasia 2
Nail dysplasia, Sparse hair, Small nail OMIM:617396
Neurodevelopmental Disorder With Speech Delay And Variable Ocular Anomalies
Sparse eyebrow, Sparse hair OMIM:619989
Charcot-Marie-Tooth Disease Type 1B
Peripheral dysmyelination, Peripheral axonal neuropathy, Somatic sensory dysfunction, Decreased n... ORPHA:101082
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hemophagocytosis, Conjunctivitis, Increased circulating ferritin concentration, Splenomegaly, Ane... OMIM:603552
Autoimmune Polyendocrinopathy Type 1
Alopecia, Increased circulating cortisol level, Abnormal fingernail morphology, Primary adrenal i... ORPHA:3453
Intellectual Developmental Disorder, Autosomal Dominant 65
Thin eyebrow, Low posterior hairline, Clumsiness, Ataxia, Sparse hair, Synophrys OMIM:619320
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7
Difficulty walking, Vocal cord paresis, Vocal cord paralysis, Tremor OMIM:158580
Retinitis Pigmentosa 4
Cataract, Pigmentary retinopathy, Attenuation of retinal blood vessels, Retinal atrophy, Bone spi... OMIM:613731
Tyrosinemia, Type I
Hypermethioninemia, Nephrocalcinosis, Elevated urinary succinylacetone level, Ascites, Hypophosph... OMIM:276700