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Gene: Fa2h MGI:2443327

Gene Summary

Name:

fatty acid 2-hydroxylase

Synonyms:

Faxdc1, G630055L08Rik

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
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.

Phenotype	Allele	Zyg	Life Stage	P Value
decreased grip strength	Fa2h^em1(IMPC)Mbp	HOM	Early adult	3.30×10^-05
enlarged testis	Fa2h^em1(IMPC)Mbp	HOM	Early adult	0.00
cataract	Fa2h^em1(IMPC)Mbp	HOM	Early adult	2.65×10^-07
abnormal coat/ hair morphology	Fa2h^em1(IMPC)Mbp	HOM	Early adult	9.07×10^-18
abnormal kidney morphology	Fa2h^em1(IMPC)Mbp	HOM	Early adult	0.00
abnormal spleen morphology	Fa2h^em1(IMPC)Mbp	HOM	Early adult	0.00
enlarged kidney	Fa2h^em1(IMPC)Mbp	HOM	Early adult	0.00
decreased circulating cholesterol level	Fa2h^em1(IMPC)Mbp	HOM	Early adult	1.59×10^-06
abnormal retina morphology	Fa2h^em1(IMPC)Mbp	HOM	Early adult	1.35×10^-05
abnormal eye morphology	Fa2h^em1(IMPC)Mbp	HOM	Early adult	0.00
abnormal skin morphology	Fa2h^em1(IMPC)Mbp	HOM	Early adult	0.00
abnormal testis morphology	Fa2h^em1(IMPC)Mbp	HOM	Early adult	0.00
increased freezing behavior	Fa2h^em1(IMPC)Mbp	HOM	Early adult	4.27×10^-23
enlarged spleen	Fa2h^em1(IMPC)Mbp	HOM	Early adult	0.00
decreased circulating HDL cholesterol level	Fa2h^em1(IMPC)Mbp	HOM	Early adult	9.09×10^-05
abnormal vitreous body morphology	Fa2h^em1(IMPC)Mbp	HOM	Early adult	1.04×10^-07

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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 Dorso Ventral

30 Images

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Histopathology

Images

2 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 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.

Human diseases associated with Fa2h (3 diseases)
Human diseases predicted to be associated with Fa2h (1179 diseases)

The table below shows human diseases associated to Fa2h by orthology or direct annotation.

Disease	Matching phenotypes	Source
Autosomal Recessive Spastic Paraplegia Type 35	Optic atrophy, Pontocerebellar atrophy, Difficulty walking, Dysdiadochokinesis, Cerebellar atroph...	ORPHA:171629
Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration	Optic atrophy, Difficulty walking, Mental deterioration, Dysdiadochokinesis, Cerebellar atrophy, ...	OMIM:612319
Fatty Acid Hydroxylase-Associated Neurodegeneration	Optic atrophy, Falls, Cerebellar vermis atrophy, Cerebellar atrophy, Loss of ambulation, Progress...	ORPHA:329308

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

Disease	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 totalis, Alopecia universalis, Alopecia of scalp, Patchy alopecia	OMIM:610753
Alopecia-Intellectual Disability Syndrome 1	Alopecia universalis, Alopecia	OMIM:203650
Alopecia, Familial Focal	Patchy alopecia	OMIM:104110
Alopecia Universalis Congenita	Absent pubic hair, Absent eyelashes, Absent eyebrow, Absent axillary hair, Alopecia universalis	OMIM:203655
Hypotrichosis Simplex	Sparse scalp hair, Sparse eyelashes, Sparse body hair, Sparse eyebrow, Sparse hair, Alopecia	ORPHA:55654
Hypotrichosis 4	Uncombable hair, Sparse scalp hair, Sparse eyelashes, Sparse body hair, Sparse eyebrow, Alopecia	OMIM:146550
Hypotrichosis 11	Aplasia/Hypoplasia of the eyebrow, Sparse or absent eyelashes, Sparse hair, Absent axillary hair,...	OMIM:615059
Alopecia Areata 1	Patchy alopecia, Nail pits, Trachyonychia, Alopecia totalis, Alopecia universalis	OMIM:104000
Perifolliculitis Capitis Abscedens Et Suffodiens, Familial	Alopecia of scalp, Alopecia	OMIM:260910
Alopecia-Intellectual Disability-Hypergonadotropic Hypogonadism Syndrome	Alopecia totalis	ORPHA:1014
Ectodermal Dysplasia 6, Hair/Nail Type	Thin toenail, Dystrophic toenail, Sparse hair, Alopecia	OMIM:614928
Hypotrichosis 15	Sparse scalp hair	OMIM:620177
Graham Little-Piccardi-Lassueur Syndrome	Sparse pubic hair, Sparse scalp hair, Sparse axillary hair, Alopecia	ORPHA:505
Severe Combined Immunodeficiency Due To Foxn1 Deficiency	Nail pits, Congenital alopecia totalis, Ridged nail	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	Alopecia, Absent eyelashes, Absent eyebrow	OMIM:600331
Marie Unna Hereditary Hypotrichosis	Sparse or absent eyelashes, Sparse scalp hair, Aplasia/Hypoplasia of the eyebrow, Coarse hair, Al...	ORPHA:444
Uncombable Hair Syndrome	Abnormal hair morphology, White hair, Patchy alopecia, Woolly hair, Trichodysplasia, Coarse hair	ORPHA:1410
Hypotrichosis 1	Abnormality of the nail, Sparse eyelashes, Sparse body hair, Sparse eyebrow, Sparse pubic hair, S...	OMIM:605389
Odonto-Onycho Dysplasia-Alopecia Syndrome	Abnormal fingernail morphology, Sparse body hair, Sparse eyebrow, Sparse hair, Hypoplastic toenai...	ORPHA:2722
Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy	Alopecia of scalp, Onychogryposis of toenails, Dystrophic toenail, Sparse body hair, Alopecia	OMIM:617294
Trichodysplasia-Amelogenesis Imperfecta Syndrome	Trichodysplasia, Alopecia of scalp	ORPHA:79129
Trichodysplasia-Xeroderma Syndrome	Trichorrhexis nodosa, Coarse hair, Brittle hair, Sparse scalp hair, Sparse body hair, Sparse eyeb...	ORPHA:3361
L-Ferritin Deficiency	Alopecia	OMIM:615604
Atrichia With Papular Lesions	Sparse hair	OMIM:209500
Hypotrichosis 10	Abnormality of the nail, Sparse scalp hair, Sparse eyelashes, Sparse body hair, Sparse eyebrow	OMIM:614238
Monilethrix	Nail dysplasia, Nail dystrophy, Brittle hair, Abnormality of hair texture, Sparse hair, Alopecia	OMIM:158000
Null Syndrome	Optic atrophy, Decreased nerve conduction velocity, Difficulty walking, Inability to walk, Demyel...	ORPHA:280234
Hypertrichosis, Congenital Generalized, 2	Congenital, generalized hypertrichosis, Hirsutism	OMIM:307150
Ringed Hair Disease	Fine hair, Abnormal hair pattern	ORPHA:169
Epidermolysis Bullosa Simplex 5D, Generalized Intermediate, Autosomal Recessive	Nail dystrophy, Alopecia	OMIM:616487
Pili Bifurcati	Abnormality of hair texture, Abnormal hair morphology	ORPHA:720
Ichthyosis-Hypotrichosis Syndrome	Sparse hair	ORPHA:91132
Chronic Inflammatory Demyelinating Polyneuropathy	Decreased nerve conduction velocity, Difficulty walking, Abnormal nerve conduction velocity, Pare...	ORPHA:2932
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy	Nail pits, Nail dystrophy, Ridged nail, Alopecia	OMIM:601705
Spinocerebellar Ataxia Type 43	Limb ataxia, Progressive cerebellar ataxia, Distal sensory impairment, Cerebellar vermis atrophy,...	ORPHA:497764
Charcot-Marie-Tooth Disease, Demyelinating, Type 4F	Steppage gait, Difficulty walking, Distal sensory impairment, Broad-based gait, Sensory ataxia, G...	OMIM:614895
Charcot-Marie-Tooth Disease, Demyelinating, Type 1C	Decreased distal sensory nerve action potential, Decreased nerve conduction velocity, Distal sens...	OMIM:601098
Congenital Smooth Muscle Hamartoma, With Or Without Hemihypertrophy	Hypertrichosis	OMIM:620470
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1	Steppage gait, Distal sensory impairment, Impaired distal proprioception, Peripheral axonal neuro...	OMIM:607250
Leukomelanoderma, Infantilism, Mental Retardation, Hypodontia, Hypotrichosis	Sparse hair	OMIM:246500
Hypotrichosis 5	Absent pubic hair, Abnormality of the nail, Abnormal sweat gland morphology, Sparse eyelashes, Th...	OMIM:612841
Woolly Hair, Autosomal Recessive 3	Trichorrhexis nodosa, Sparse scalp hair, Curly hair, Sparse eyelashes, Sparse hair, Fine hair	OMIM:616760
Neurodegeneration, Childhood-Onset, With Brain Atrophy	Inability to walk, Chorea, Mental deterioration, Cerebellar atrophy, Ataxia, Peripheral demyelina...	OMIM:617672
Thumb Deformity And Alopecia	Alopecia	OMIM:188150
Ceroid Lipofuscinosis, Neuronal, 11	Optic atrophy, Retinal dystrophy, Cerebellar atrophy, Ataxia, Mental deterioration	OMIM:614706
Candidiasis, Familial, 1	Alopecia	OMIM:114580
Pili Torti	Brittle hair, Abnormality of the nail, Abnormality of hair texture, Abnormal eyebrow morphology, ...	ORPHA:2889
Spastic Paraplegia 55, Autosomal Recessive	Optic atrophy, Steppage gait, Difficulty walking, Distal sensory impairment, Peripheral axonal ne...	OMIM:615035
Charcot-Marie-Tooth Disease, Dominant Intermediate A	Steppage gait, Peripheral axonal neuropathy, Axonal degeneration/regeneration, Onion bulb formati...	OMIM:620378
Hidrotic Ectodermal Dysplasia	Nail dystrophy, Small nail, Generalized hypotrichosis, Sparse hair, Sparse axillary hair, Fine ha...	ORPHA:189
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1	Memory impairment, Abnormal upper motor neuron morphology, Gliosis, Gait disturbance, Frontal lob...	OMIM:221770
Metachromatic Leukodystrophy Due To Saposin B Deficiency	Decreased nerve conduction velocity, Motor deterioration, Gait ataxia, CNS demyelination, Periphe...	OMIM:249900
Charcot-Marie-Tooth Disease, Dominant Intermediate F	Steppage gait, Distal sensory impairment, Impaired pain sensation, Axonal regeneration, Impaired ...	OMIM:615185
Charcot-Marie-Tooth Disease, Axonal, Type 2Gg	Steppage gait, Difficulty walking, Distal sensory impairment, Axonal degeneration/regeneration, O...	OMIM:606483
Cervical Hypertrichosis With Underlying Kyphoscoliosis	Thoracic hypertrichosis, Sacral hypertrichosis, Lumbar hypertrichosis, Anterior cervical hypertri...	OMIM:117850
Subacute Inflammatory Demyelinating Polyneuropathy	Demyelinating motor neuropathy, Decreased distal sensory nerve action potential, Decreased sensor...	ORPHA:206594
Björnstad Syndrome	Alopecia, Brittle hair	ORPHA:123
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A	Optic atrophy, Decreased sensory nerve conduction velocity, Steppage gait, Distal sensory impairm...	OMIM:609260
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia	Abnormal hair morphology, Dry skin, Hypohidrosis, Abnormal fingernail morphology, Abnormal toenai...	ORPHA:248
Hypertrophic Neuropathy Of Dejerine-Sottas	Decreased sensory nerve conduction velocity, Steppage gait, Distal sensory impairment, Hypertroph...	OMIM:145900
Leukoencephalopathy-Palmoplantar Keratoderma Syndrome	Tip-toe gait, Cognitive impairment, Unsteady gait, Decreased number of peripheral myelinated nerv...	ORPHA:2386
Crandall Syndrome	Brittle hair, Sparse body hair, Aplasia/Hypoplasia of the eyebrow, Fine hair, Pili torti, Alopecia	ORPHA:202
Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness	Impaired tandem gait, Chronic axonal neuropathy, Distal sensory impairment, Impaired tactile sens...	ORPHA:101097
Charcot-Marie-Tooth Disease, Recessive Intermediate D	Steppage gait, Distal sensory impairment, Onion bulb formation	OMIM:616039
Charcot-Marie-Tooth Disease, X-Linked Recessive, 5	Optic atrophy, Distal sensory impairment, Onion bulb formation, Gait disturbance, Rod-cone dystro...	OMIM:311070
Spinocerebellar Ataxia Type 25	Progressive cerebellar ataxia, Distal sensory impairment, Impaired pain sensation, Gait ataxia, I...	ORPHA:101111
Charcot-Marie-Tooth Disease, Demyelinating, Type 1G	Steppage gait, Difficulty walking, Distal sensory impairment, Decreased compound muscle action po...	OMIM:618279
Hypotrichosis, Congenital, With Juvenile Macular Dystrophy	Abnormality of the nail, Sparse scalp hair, Reduced terminal:vellus ratio, Sparse hair, Pili torti	OMIM:601553
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia	Limb ataxia, Distal sensory impairment, Axonal degeneration, Chorea, Truncal ataxia, Cerebellar a...	OMIM:208920
Osteopenia And Sparse Hair	Sparse hair	OMIM:259690
Charcot-Marie-Tooth Disease, Axonal, Type 2A1	Steppage gait, Distal sensory impairment, Peripheral axonal neuropathy, Facial palsy, Decreased n...	OMIM:118210
Charcot-Marie-Tooth Disease Type 4G	Decreased distal sensory nerve action potential, Difficulty walking, Distal sensory impairment, G...	ORPHA:99953
Charcot-Marie-Tooth Disease, Type 4A	Inability to walk by childhood/adolescence, Decreased sensory nerve conduction velocity, Distal s...	OMIM:214400
Ectodermal Dysplasia 4, Hair/Nail Type	Nail dystrophy, Brittle hair, Abnormal sweat gland morphology, Absent eyelashes, Absent eyebrow, ...	OMIM:602032
Charcot-Marie-Tooth Disease, Demyelinating, Type 1B	Steppage gait, Distal sensory impairment, Hypertrophic nerve changes, Decreased number of periphe...	OMIM:118200
Peroxisome Biogenesis Disorder 8B	Optic atrophy, Tip-toe gait, Retinal dystrophy, Cerebellar vermis atrophy, Dysesthesia, Cerebella...	OMIM:614877
Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant	Gliosis, Symmetric peripheral demyelination, Autonomic erectile dysfunction, Abnormal cerebellum ...	OMIM:169500
Ectodermal Dysplasia 7, Hair/Nail Type	Dystrophic fingernails, Brittle hair, Abnormal sweat gland morphology, Dystrophic toenail, Sparse...	OMIM:614929
Roussy-Levy Hereditary Areflexic Dystasia	Distal sensory impairment, Hypertrophic nerve changes, Gait ataxia, Decreased number of periphera...	OMIM:180800
Ectodermal Dysplasia 10A, Hypohidrotic/Hair/Nail Type, Autosomal Dominant	Ridged nail, Slow-growing hair, Dry skin, Hypohidrosis, Sparse eyelashes, Sparse eyebrow, Sparse ...	OMIM:129490
Charcot-Marie-Tooth Disease, Type 4H	Peripheral hypomyelination, Distal sensory impairment, Waddling gait, Unsteady gait, Decreased nu...	OMIM:609311
Charcot-Marie-Tooth Disease, Axonal, Type 2I	Axonal degeneration/regeneration, Distal sensory impairment, Decreased number of peripheral myeli...	OMIM:607677
Charcot-Marie-Tooth Disease, Axonal, Type 2H	Axonal regeneration, Distal sensory impairment, Decreased number of peripheral myelinated nerve f...	OMIM:607731
Adult Krabbe Disease	Delayed brainstem auditory evoked response conduction time, Impaired tactile sensation, Broad-bas...	ORPHA:206448
Charcot-Marie-Tooth Disease, Demyelinating, Type 1F	Distal sensory impairment, Decreased number of peripheral myelinated nerve fibers, Clusters of ax...	OMIM:607734
Neuropathy, Hereditary Motor And Sensory, Okinawa Type	Distal sensory impairment, Axonal degeneration, Gliosis, Hyperlipidemia, Gait disturbance, Decrea...	OMIM:604484
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome	Alopecia universalis, Abnormal eyelash morphology, Sparse body hair, Sparse scalp hair	ORPHA:1008
Charcot-Marie-Tooth Disease, Demyelinating, Type 1A	Steppage gait, Distal sensory impairment, Hypertrophic nerve changes, Decreased number of periphe...	OMIM:118220
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome	Optic atrophy, Cognitive impairment, Abnormality of retinal pigmentation, Ataxia, Cerebellar hypo...	ORPHA:2246
Kerion Celsi	Alopecia	ORPHA:499
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome	Decreased response to growth hormone stimulation test, Long eyelashes, Hypothyroidism, Ataxia, Sp...	ORPHA:3363
Pseudopelade Of Brocq	Abnormal hair morphology, Abnormality of the nail, Sparse scalp hair, Aplasia/Hypoplasia of the e...	ORPHA:129
Palmoplantar Keratoderma And Congenital Alopecia 2	Nail dysplasia, Nail dystrophy, Facial erythema, Hyperkeratosis, Dry skin, Palmoplantar hyperkera...	OMIM:212360
Acute Inflammatory Demyelinating Polyradiculoneuropathy	Unsteady gait, Dysesthesia, Onion bulb formation, Acute demyelinating polyneuropathy	ORPHA:98916
Cerebellar Ataxia-Ectodermal Dysplasia Syndrome	Gait disturbance, Ataxia, Sparse hair, Fine hair, Cryptorchidism	ORPHA:1174
Quinquaud Folliculitis Decalvans	Patchy alopecia, Abnormal hair morphology, Scarring alopecia of scalp	ORPHA:346
Hypotrichosis 9	Abnormality of the nail, Abnormal eyelash morphology, Sparse scalp hair, Hypohidrosis, Sparse bod...	OMIM:614237
Giant Axonal Neuropathy 2, Autosomal Dominant	Steppage gait, Peripheral axonal neuropathy, Impaired distal vibration sensation, Impaired distal...	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	Sparse eyebrow, Dry skin, Sparse hair	OMIM:617073
Polycystic Kidney Disease 5	Enlarged kidney, Polycystic kidney dysplasia, Hepatosplenomegaly, Hyperechogenic kidneys, Reduced...	OMIM:617610
Bullous Dystrophy, Hereditary Macular Type	Abnormality of the nail, Alopecia totalis	OMIM:302000
Familial Peripheral Male-Limited Precocious Puberty	Long penis, Abnormal hair morphology, Oligozoospermia, Precocious puberty, Attention deficit hype...	ORPHA:3000
Ectodermal Dysplasia/Skin Fragility Syndrome	Scaling skin, Alopecia of scalp, Nail dystrophy, Dystrophic fingernails, Absent eyelashes, Absent...	OMIM:604536
Congenital Cataracts, Facial Dysmorphism, And Neuropathy	Peripheral hypomyelination, Axonal degeneration, Chorea, Decreased motor nerve conduction velocit...	OMIM:604168
Epidermolysis Bullosa, Junctional 5A, Intermediate	Alopecia of scalp, Nail dystrophy, Absent pubic hair, Onycholysis of distal fingernails, Absent a...	OMIM:619816
Angioma Serpiginosum, X-Linked	Nail dystrophy, Fine hair, Sparse hair	OMIM:300652
Flynn-Aird Syndrome	Hyperkeratosis, Alopecia of scalp, Ataxia, Alopecia	OMIM:136300
Charcot-Marie-Tooth Disease, Dominant Intermediate C	Decreased sensory nerve conduction velocity, Difficulty walking, Distal sensory impairment, Axona...	OMIM:608323
Familial Apolipoprotein Gene Cluster Deletion Syndrome	Corneal arcus, Decreased HDL cholesterol concentration, Decreased circulating apolipoprotein A-I ...	OMIM:620058
Monilethrix	Brittle hair, Abnormality of the nail, Slow-growing hair, Abnormal eyelash morphology, Patchy alo...	ORPHA:573
Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome	Dystrophic fingernails, Dystrophic toenail, Sparse scalp hair, Hypohidrosis, Hypothyroidism, Spar...	ORPHA:1882
Posterior Column Ataxia With Retinitis Pigmentosa	Optic atrophy, Decreased sensory nerve conduction velocity, Bone spicule pigmentation of the reti...	OMIM:609033
Palmoplantar Keratoderma And Congenital Alopecia 1	Nail dysplasia, Leukonychia, Brittle hair, Sparse eyebrow, Palmoplantar erythema, Sparse hair, Pa...	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	Cirrhosis, Jaundice, Enlarged kidney, Tubular luminal dilatation, Hepatocellular carcinoma, Renal...	OMIM:619902
Charcot-Marie-Tooth Disease, Recessive Intermediate A	Steppage gait, Distal sensory impairment, Decreased number of large peripheral myelinated nerve f...	OMIM:608340
Charcot-Marie-Tooth Disease, Axonal, Type 2J	Axonal degeneration/regeneration, Steppage gait, Distal sensory impairment, Peripheral demyelination	OMIM:607736
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness	Cataract, Cryptorchidism, Chorioretinal coloboma	OMIM:274205
Ectodermal Dysplasia 15, Hypohidrotic/Hair Type	Slow-growing hair, Sparse scalp hair, Dry skin, Hypohidrosis, Sparse eyelashes, Sparse body hair,...	OMIM:618535
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2K	Gait disturbance, Decreased nerve conduction velocity, Distal sensory impairment, Peripheral demy...	ORPHA:99944
Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive	Decreased distal sensory nerve action potential, Impaired pain sensation, Impaired distal vibrati...	OMIM:607706
Moynahan Syndrome	Hyperkeratosis, Sparse hair, Alopecia	ORPHA:2574
Oliver-Mcfarlane Syndrome	Decreased response to growth hormone stimulation test, Long eyebrows, Long eyelashes, Sparse hair...	OMIM:275400
Bjornstad Syndrome	Hair shafts flattened at irregular intervals and twisted through 180 degrees about their axes, Dr...	OMIM:262000
Ichthyosis, Congenital, Autosomal Recessive 2	Palmoplantar keratoderma, Thin nail, Small nail, Abnormal hair morphology, Hyperkeratosis, Hypohi...	OMIM:242100
Schopf-Schulz-Passarge Syndrome	Narrow nail, Nail dystrophy, Thin nail, Ridged nail, Small nail, Hyperkeratosis, Dry skin, Poroma...	OMIM:224750
Charcot-Marie-Tooth Disease, Type 4B2	Steppage gait, Difficulty walking, Distal sensory impairment, Decreased number of peripheral myel...	OMIM:604563
Trichothiodystrophy 9, Nonphotosensitive	Nail dystrophy, Tiger tail banding, Sparse eyebrow, Ataxia, Sparse hair	OMIM:619692
Rothmund-Thomson Syndrome, Type 1	Nail dystrophy, Thin nail, Absent eyelashes, Hyperkeratosis, Absent eyebrow, Hypothyroidism, Spar...	OMIM:618625
Charcot-Marie-Tooth Disease, Type 4J	Peripheral hypomyelination, Decreased nerve conduction velocity, Distal sensory impairment, Gait ...	OMIM:611228
Charcot-Marie-Tooth Disease, Type 4C	Delayed brainstem auditory evoked response conduction time, Difficulty walking, Distal sensory im...	OMIM:601596
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome	Palmoplantar keratoderma, Onychogryposis of fingernail, Ridged fingernail, Sparse hair, Fingernai...	ORPHA:2251
Erythrokeratodermia Variabilis	Abnormal hair morphology, Abnormality of the nail, Hyperkeratosis, Abnormal testis morphology, Dr...	ORPHA:317
Charcot-Marie-Tooth Disease, Axonal, Type 2B1	Steppage gait, Distal sensory impairment, Decreased number of peripheral myelinated nerve fibers,...	OMIM:605588
Epidermolysis Bullosa Simplex With Mottled Pigmentation	Nail dysplasia, Nail dystrophy, Palmar hyperkeratosis, Hyperkeratotic papule, Plantar hyperkerato...	ORPHA:79397
Hypotrichosis 6	Erythema, Brittle hair, Sparse eyelashes, Sparse eyebrow, Sparse hair, Pili torti, Follicular hyp...	OMIM:607903
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Hepatomegaly, Anemia, Thrombocytopenia, Splenomegaly, Hypocholesterolemia, Hypersplenism	OMIM:610539
Charcot-Marie-Tooth Disease, Type 4K	Difficulty walking, Ataxia, Peripheral demyelination, Axonal loss	OMIM:616684
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Enlarged kidney, Hepatomegaly, Anemia, Thrombocytopenia, Splenomegaly, Leukopenia, Extramedullary...	OMIM:615285
Neuropathy, Congenital Hypomyelinating, 2	Inability to walk, Facial diplegia, Sensory ataxia, Decreased number of peripheral myelinated ner...	OMIM:618184
Ectodermal Dysplasia-Syndactyly Syndrome 2	Palmoplantar keratoderma, Hyperhidrosis, Sparse hair, Follicular hyperkeratosis	OMIM:613576
Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, And Facial Dysmorphism	Thick eyebrow, Sparse hair, Widow's peak	OMIM:606242
Morm Syndrome	Abnormality of the kidney, Retinal dystrophy, Hyperactivity, Retinal atrophy, Cataract, Micropeni...	ORPHA:75858
Hidrotic Ectodermal Dysplasia, Christianson-Fourie Type	Nail dystrophy, Onychogryposis of toenails, Abnormality of the nail, Abnormal hair morphology, Sp...	ORPHA:1808
Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome	Scaling skin, Alopecia of scalp, Generalized hyperkeratosis, Absent pubic hair, Dry skin, Cutis l...	ORPHA:2269
Dermoodontodysplasia	Toenail dysplasia, Trichodysplasia, Sparse scalp hair, Dry skin, Hypohidrosis, Sparse body hair, ...	ORPHA:1660
Spastic Ataxia 5, Autosomal Recessive	Dysdiadochokinesis, Cerebellar atrophy, Cognitive impairment, Ataxia, Spastic ataxia, Onion bulb ...	OMIM:614487
Aredyld	Generalized hypotrichosis	OMIM:207780
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome	Anorexia, Irritability, Abnormal fear-induced behavior, Hyperactivity, Abnormal aggressive, impul...	ORPHA:3077
Neuropathy, Hereditary, With Liability To Pressure Palsies	Hand paresthesia, Froment sign, Decreased motor nerve conduction velocity, Segmental peripheral d...	OMIM:162500
Pili Torti-Onychodysplasia Syndrome	Nail dystrophy, Palmoplantar keratoderma, Brittle hair, Absent eyelashes, Dry skin, Absent eyebro...	ORPHA:2890
Paraparetic Variant Of Guillain-Barré Syndrome	Impaired distal proprioception, Peripheral axonal neuropathy, Peripheral demyelination	ORPHA:231445
Charcot-Marie-Tooth Disease, Axonal, Type 2E	Decreased distal sensory nerve action potential, Steppage gait, Distal sensory impairment, Impair...	OMIM:607684
Charcot-Marie-Tooth Disease, Dominant Intermediate D	Axonal degeneration/regeneration, Distal sensory impairment, Segmental peripheral demyelination/r...	OMIM:607791
Charcot-Marie-Tooth Disease, Axonal, Type 2L	Peripheral axonal neuropathy, Decreased amplitude of sensory action potentials, Distal sensory im...	OMIM:608673
Immunodeficiency, Common Variable, 6	Enlarged kidney, Hepatomegaly, Nephrotic range proteinuria, Abnormal T cell count, Mesangial Immu...	OMIM:613496
Cortisone Reductase Deficiency 1	Hirsutism, Alopecia	OMIM:604931
Zinc Deficiency, Transient Neonatal	Alopecia	OMIM:608118
Hair Defect With Photosensitivity And Mental Retardation	Brittle hair, Sparse eyelashes, Sparse eyebrow, Sparse hair, Coarse hair	OMIM:234030
Ichthyosis With Alopecia, Eclabium, Ectropion, And Mental Retardation	Alopecia	OMIM:242510
Ectodermal Dysplasia, Trichoodontoonychial Type	Abnormal eyelash morphology, Sparse body hair, Abnormal toenail morphology, Sparse hair, Aplasia/...	ORPHA:1818
Alopecia Totalis	Alopecia of scalp, Onycholysis, Fragile nails, Trachyonychia, Nail pits, Alopecia totalis	ORPHA:700
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis	Nail dysplasia, Hypohidrosis, Sparse eyelashes, Sparse eyebrow, Alopecia	OMIM:615704
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 10	Sensory axonal neuropathy, Hypoplasia of the pons, Decreased number of peripheral myelinated nerv...	OMIM:620542
Ectodermal Dysplasia-Syndactyly Syndrome 1	Coarse hair, Small nail, Sparse scalp hair, Patchy alopecia, Sparse eyelashes, Hypoplastic toenai...	OMIM:613573
Charcot-Marie-Tooth Disease, Recessive Intermediate C	Steppage gait, Distal sensory impairment, Decreased number of large peripheral myelinated nerve f...	OMIM:615376
Ichthyosis, Congenital, Autosomal Recessive 11	Curly eyelashes, Brittle hair, Abnormality of the nail, Hyperkeratosis, Curly hair, Hypohidrosis,...	OMIM:602400
Neuropathy, Hereditary Motor And Sensory, Russe Type	Peripheral hypomyelination, Difficulty walking, Distal sensory impairment, Axonal regeneration, D...	OMIM:605285
Spastic Ataxia, Charlevoix-Saguenay Type	Spastic gait, Decreased sensory nerve conduction velocity, Distal sensory impairment, Onion bulb ...	OMIM:270550
Olmsted Syndrome 1	Nail dysplasia, Nail dystrophy, Parakeratosis, Periorificial hyperkeratosis, Hyperparakeratosis, ...	OMIM:614594
Bathing Suit Ichthyosis	Scaling skin, Nail dystrophy, Parakeratosis, Hypohidrosis, Sparse hair, Palmoplantar hyperkeratos...	ORPHA:100976
Hypotrichosis 14	Sparse body hair, Short eyelashes, Sparse pubic hair, Sparse hair, Absent axillary hair	OMIM:618275
Charcot-Marie-Tooth Disease, Type 4D	Decreased nerve conduction velocity, Distal sensory impairment, Impaired distal proprioception, A...	OMIM:601455
Charcot-Marie-Tooth Disease, Axonal, Type 2B	Steppage gait, Decreased compound muscle action potential amplitude, Decreased number of peripher...	OMIM:600882
Clouston Syndrome	Nail dysplasia, Nail dystrophy, Brittle hair, Small nail, Absent pubic hair, Slow-growing hair, S...	OMIM:129500
Huntington Disease	Bradykinesia, Chorea, Gliosis, Cerebellar atrophy, Gait ataxia, Dementia	OMIM:143100
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia	Toenail dysplasia, Sparse scalp hair, Abnormal fingernail morphology, Hypoplastic toenails, Finge...	ORPHA:2325
Hypotrichosis 7	Brittle hair, Abnormality of the nail, Abnormal sweat gland morphology, Sparse scalp hair, Woolly...	OMIM:604379
Classic Mycosis Fungoides	Skin ulcer, Abnormality of the nail, Hyperkeratosis, Dry skin, Erythema, Alopecia	ORPHA:2584
Epidermolysis Bullosa, Junctional 1A, Intermediate	Nail dystrophy, Patchy alopecia, Fragile nails, Palmar hyperhidrosis, Plantar hyperkeratosis	OMIM:226650
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1	Tip-toe gait, Difficulty walking, Distal sensory impairment, Axonal degeneration, Cerebellar atro...	OMIM:302800
Keratoderma Hereditarium Mutilans With Ichthyosis	Nail dystrophy, Parakeratosis, Onychogryposis, Hyperkeratosis, Scaling skin on fingertip, Honeyco...	ORPHA:79395
Trichotillomania	Alopecia	OMIM:613229
Pseudoprogeria Syndrome	Absent eyelashes, Absent eyebrow, Sparse eyebrow, Sparse hair, Progressive spastic quadriplegia, ...	ORPHA:2985
Krabbe Disease	Optic atrophy, Decreased nerve conduction velocity, Motor deterioration, CNS demyelination, Perip...	OMIM:245200
Multiple Sulfatase Deficiency	Cerebellar atrophy, CNS demyelination, Ataxia, Retinal degeneration, Rapid neurologic deteriorati...	OMIM:272200
Porphyria Cutanea Tarda	Onycholysis, Facial hypertrichosis, Alopecia	OMIM:176100
Adult-onset autosomal dominant leukodystrophy (ADLD)	Leukodystrophy, Abnormal autonomic nervous system physiology, Peripheral demyelination	DECIPHER:59
Metachromatic Leukodystrophy	Optic atrophy, Decreased nerve conduction velocity, Chorea, Mental deterioration, Gait disturbanc...	OMIM:250100
Syndromic X-Linked Intellectual Disability 7	Sparse body hair, Cryptorchidism	ORPHA:85274
Neuropathy, Hereditary Sensory, Type Ie	Memory impairment, Ataxia, Decreased number of peripheral myelinated nerve fibers, Delirium, Deme...	OMIM:614116
Spastic Paraplegia 11, Autosomal Recessive	Spastic gait, Tip-toe gait, Macular degeneration, Impaired vibration sensation in the lower limbs...	OMIM:604360
Sabinas Brittle Hair Syndrome	Nail dysplasia, Nail dystrophy, Brittle hair, Sparse hair, Dry hair	OMIM:211390
Autosomal Dominant Hypohidrotic Ectodermal Dysplasia	Hypohidrosis, Abnormal fingernail morphology, Sparse body hair, Sparse hair	ORPHA:1810
Woolly Hair, Hypotrichosis, Everted Lower Lip, And Outstanding Ears	Woolly hair, Sparse hair	OMIM:278200
Hidrotic Ectodermal Dysplasia, Halal Type	Nail dysplasia, Absent eyelashes, Sparse scalp hair, Absent eyebrow, Abnormal fingernail morpholo...	ORPHA:1809
Uncombable Hair Syndrome 3	Curly hair, Uncombable hair, Pili canaliculi, Brittle hair	OMIM:617252
Squalene Synthase Deficiency	Irritability, Hypospadias, Optic nerve hypoplasia, Increased circulating farnesol concentration, ...	OMIM:618156
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10	Cerebellar dysplasia, Retinal dysplasia	OMIM:615041
Keratoderma Hereditarium Mutilans	Abnormality of the nail, Hyperkeratosis, Abnormal toenail morphology, Honeycomb palmoplantar hype...	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, 3-Methylglutaconic aciduria, Splenomegaly	OMIM:619813
Schöpf-Schulz-Passarge Syndrome	Ovarian neoplasm, Sparse hair, Aplasia/Hypoplasia of the eyebrow, Palmoplantar keratoderma, Alopecia	ORPHA:50944
Slowed Nerve Conduction Velocity, Autosomal Dominant	Decreased nerve conduction velocity, Onion bulb formation, Peripheral demyelination	OMIM:608236
Autosomal Spastic Paraplegia Type 58	Tip-toe gait, Chorea, Cerebellar atrophy, Gait ataxia, Peripheral demyelination, Unsteady gait, S...	ORPHA:397946
X-Linked Hypohidrotic Ectodermal Dysplasia	Anterior hypopituitarism, Hypohidrosis, Sparse body hair, Sparse hair, Aplasia/Hypoplasia of the ...	ORPHA:181
Intellectual Developmental Disorder, X-Linked 21	Hyperactivity, Macroorchidism, Impulsivity, Synophrys	OMIM:300143
Ectodermal Dysplasia 9, Hair/Nail Type	Absent hair, Nail dystrophy, Abnormal sweat gland morphology, Abnormal sebaceous gland morphology...	OMIM:614931
Focal Facial Dermal Dysplasia Type I	Absent eyelashes, Distichiasis, Sparse lateral eyebrow, Low anterior hairline, Sparse hair	ORPHA:79133
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques	Skin ulcer, Anhidrosis, Abnormal fingernail morphology, Sparse hair, Palmoplantar keratoderma, Pa...	ORPHA:659
Palmoplantar Keratoderma And Woolly Hair	Leukonychia, Sparse scalp hair, Woolly hair, Sparse eyelashes, Sparse body hair, Sparse eyebrow, ...	OMIM:616099
Witkop Syndrome	Ridged nail, Abnormal sweat gland morphology, Hypoplastic fifth toenail, Nail pits, Sparse hair, ...	OMIM:189500
47,Xyy Syndrome	Congenital stationary night blindness, Hypospadias, Azoospermia, Hyperactivity, Oligozoospermia, ...	ORPHA:8
Fragile X Syndrome	Congenital macroorchidism, Hyperactivity, Macroorchidism, postpubertal, Recurrent hand flapping, ...	OMIM:300624
Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive	Abnormal cranial nerve morphology, Decreased motor nerve conduction velocity, Peripheral hypomyel...	OMIM:605253
Intellectual Developmental Disorder, X-Linked 14	Macroorchidism	OMIM:300062
Congenital Ichthyosiform Erythroderma	Hypohidrosis, Palmoplantar keratoderma, Abnormality of the nail, Alopecia	ORPHA:79394
Intellectual Developmental Disorder, X-Linked, Syndromic 32	Cardiomegaly, Macroorchidism	OMIM:300886
Trichothiodystrophy 8, Nonphotosensitive	Trichorrhexis nodosa, Babinski sign, Spasticity, Woolly hair, Cutis laxa, Sparse eyebrow, Head ti...	OMIM:619691
Autosomal Recessive Spastic Paraplegia Type 35	Optic atrophy, Pontocerebellar atrophy, Difficulty walking, Dysdiadochokinesis, Cerebellar atroph...	ORPHA:171629
Hypotrichosis And Recurrent Skin Vesicles	Leukonychia, Sparse scalp hair, Sparse eyelashes, Sparse body hair, Sparse eyebrow, Sparse axilla...	OMIM:613102
Mucopolysaccharidosis-Plus Syndrome	Enlarged kidney, Low posterior hairline, Bone marrow hypocellularity, Leukopenia, Splenomegaly, N...	OMIM:617303
Nephronophthisis 16	Enlarged kidney, Nephronophthisis, Periportal fibrosis, Polycystic kidney dysplasia, Cholestasis,...	OMIM:615382
Neuromyelitis Optica Spectrum Disorder	Optic neuritis, Somatic sensory dysfunction, Peripheral demyelination	ORPHA:71211
Spinocerebellar Ataxia 25	Impaired pain sensation, Abolished vibration sense, Cerebellar atrophy, Ataxia, Decreased number ...	OMIM:608703
Methionine Adenosyltransferase I/Iii Deficiency	CNS demyelination, Peripheral demyelination	OMIM:250850
Focal Facial Dermal Dysplasia 3, Setleis Type	Low anterior hairline, Absent lower eyelashes, Distichiasis, Sparse hair	OMIM:227260
Hypotrichosis 13	Sparse eyelashes, Sparse hair, Woolly hair, Abnormal sweat gland morphology	OMIM:615896
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal	Hepatomegaly, Brittle hair, Sparse eyebrow, Developmental cataract, Hypocholesterolemia, Micropen...	OMIM:618810
X-Linked Intellectual Disability-Macrocephaly-Macroorchidism Syndrome	Macroorchidism	ORPHA:85320
46,Xy Gonadal Dysgenesis With Minifascicular Neuropathy	Impaired distal vibration sensation, Decreased number of peripheral myelinated nerve fibers, Impa...	OMIM:607080
Glut1 Deficiency Syndrome 1	Babinski sign, Spasticity, Hemiparesis, Ataxia, Myoclonus, Paralysis, Choreoathetosis, Lethargy, ...	OMIM:606777
Hawkinsinuria	Hypothyroidism, Fine hair, Sparse hair	ORPHA:2118
Intellectual Developmental Disorder, X-Linked 2	Macroorchidism	OMIM:300428
Hypotrichosis 12	Sparse or absent eyelashes, Abnormal sweat gland morphology, Abnormality of the nail, Slow-growin...	OMIM:615885
Choroidal Atrophy-Alopecia Syndrome	Supernumerary nipple, Sparse or absent eyelashes, Abnormal fingernail morphology, Abnormal toenai...	ORPHA:1433
Charcot-Marie-Tooth Disease Type 2B1	Steppage gait, Distal sensory impairment, Inability to walk, Axonal degeneration, Sensory axonal ...	ORPHA:98856
Autosomal Recessive Palmoplantar Keratoderma And Congenital Alopecia	Alopecia totalis, Nail dystrophy, Palmoplantar keratoderma, Lack of skin elasticity	ORPHA:1366
Fibrodysplasia Ossificans Progressiva	Alopecia	ORPHA:337
Cerebral Arteriopathy, Autosomal Recessive, With Subcortical Infarcts And Leukoencephalopathy	Babinski sign, Abnormality of extrapyramidal motor function, Spasticity, Gait disturbance, Gait a...	OMIM:600142
Charcot-Marie-Tooth Disease, Type 4B1	Distal sensory impairment, Facial palsy, Abnormal auditory evoked potentials, Decreased motor ner...	OMIM:601382
Pachyonychia Congenita	Palmar hyperkeratosis, Nail dystrophy, Palmoplantar keratoderma, Follicular hyperkeratosis, Onych...	ORPHA:2309
Intellectual Developmental Disorder, X-Linked, Syndromic 13	Male hypogonadism, Juvenile cataract, Emotional lability, Restlessness, Bruxism, Macroorchidism	OMIM:300055
Ectodermal Dysplasia 11A, Hypohidrotic/Hair/Tooth Type, Autosomal Dominant	Absent hair, Brittle hair, Absent nipple, Dry skin, Hypohidrosis, Anhidrosis, Sparse hair	OMIM:614940
Alopecia-Intellectual Disability Syndrome	Alopecia, Sparse body hair, Sparse scalp hair, Aplasia/Hypoplasia of the eyebrow	ORPHA:2850
Intermediate Generalized Junctional Epidermolysis Bullosa	Nail dystrophy, Scarring alopecia of scalp, Sparse body hair, Anonychia, Palmoplantar keratoderma	ORPHA:79402
Odontoonychodermal Dysplasia	Nail dysplasia, Ridged nail, Hyperhidrosis, Fine hair, Plantar hyperkeratosis, Dystrophic toenail...	OMIM:257980
Megalencephaly	Macroorchidism, Long penis	ORPHA:2477
Ectodermal Dysplasia 11B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive	Periorbital wrinkles, Absent eyelashes, Hypoplastic nipples, Sparse scalp hair, Absent nipple, Ab...	OMIM:614941
Mitochondrial Dna Depletion Syndrome 7 (Hepatocerebral Type)	Optic atrophy, Cerebellar cortical atrophy, Sensory axonal neuropathy, Athetosis, Cerebellar atro...	OMIM:271245
Bardet-Biedl Syndrome 18	Retinal dystrophy, Renal insufficiency, Cataract, Stage 5 chronic kidney disease, Rod-cone dystrophy	OMIM:615995
Abetalipoproteinemia	Retinopathy, CNS demyelination, Ataxia, Retinal degeneration, Peripheral demyelination	OMIM:200100
Woolly Hair	Hypopigmentation of hair, Brittle hair, Slow-growing hair, Abnormality of hair texture, Woolly ha...	ORPHA:170
Uncombable Hair Syndrome 1	Uncombable hair, Pili canaliculi, Dry hair	OMIM:191480
Birdshot Chorioretinopathy	Abnormal chorioretinal morphology, Retinal thinning, Choroidal neovascularization, Retinal detach...	ORPHA:179
Bazex-Dupre-Christol Syndrome	Trichorrhexis nodosa, Trichoepithelioma, Hypohidrosis, Sparse hair, Pili torti, Coarse hair	OMIM:301845
Charcot-Marie-Tooth Disease Type 4A	Decreased nerve conduction velocity, Chronic axonal neuropathy, Distal sensory impairment, Inabil...	ORPHA:99948
Tangier Disease	Hypertriglyceridemia, Impaired temperature sensation, Impaired pain sensation, Peripheral axonal ...	OMIM:205400
Flynn-Aird Syndrome	Primary adrenal insufficiency, Skin ulcer, Ataxia, Alopecia	ORPHA:2047
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome	Cerebellar cyst, Inferior cerebellar vermis hypoplasia, Elongated superior cerebellar peduncle, R...	ORPHA:370022
Xq27.3Q28 Duplication Syndrome	Decreased testicular size, Sparse body hair, Cryptorchidism	ORPHA:261483
Hypotrichosis 8	Coarse hair, Ridged nail, Sparse scalp hair, Woolly hair, Sparse eyelashes, Nail pits, Hyperhidro...	OMIM:278150
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant	Nail dysplasia, Nail dystrophy, Facial erythema, Scarring alopecia of scalp, Sparse eyelashes, Sp...	OMIM:612843
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia	Frontotemporal dementia, Gliosis, Athetosis, Amyotrophic lateral sclerosis, Axonal loss	OMIM:300857
Progressive Non-Fluent Aphasia	Frontotemporal dementia, Memory impairment, Astrocytosis, Abnormal lower motor neuron morphology,...	ORPHA:100070
Lichen Planopilaris	Skin ulcer, Hyperkeratosis, Onycholysis, Abnormal fingernail morphology, Alopecia	ORPHA:525
Mental retardation, x-linked, syndromic, Turner type	Macroorchidism	OMIM:300706
Leber Congenital Amaurosis 1	Hepatomegaly, Eye poking, Optic disc drusen, Keratoconus, Fundus atrophy, Attenuation of retinal ...	OMIM:204000
Fragile X Syndrome	Attention deficit hyperactivity disorder, Irritability, Macroorchidism, Self-injurious behavior	ORPHA:908
Nephronophthisis 2	Hyperkalemia, Chronic tubulointerstitial nephritis, Enlarged kidney, Nephronophthisis, Elevated c...	OMIM:602088
Bazex-Dupré-Christol Syndrome	Trichorrhexis nodosa, Coarse hair, Sparse or absent eyelashes, Sparse scalp hair, Sparse eyebrow,...	ORPHA:113
Non-Acquired Isolated Growth Hormone Deficiency	Premature skin wrinkling, Anterior hypopituitarism, Sparse hair	ORPHA:631
Olmsted Syndrome 2	Parakeratosis, Perioral hyperkeratosis, Hyperkeratosis, Woolly hair, Sparse hair, Palmoplantar hy...	OMIM:619208
Charcot-Marie-Tooth Disease, Type 4B3	Decreased nerve conduction velocity, Distal sensory impairment, Gait disturbance, Loss of ambulat...	OMIM:615284
Nicolaides-Baraitser Syndrome	Excessive wrinkled skin, Curly eyelashes, Highly arched eyebrow, Abnormal testis morphology, Long...	ORPHA:3051
17Q11.2 Microduplication Syndrome	Sparse eyelashes, Sparse eyebrow, Macroorchidism	ORPHA:139474
Trichodental Dysplasia	Slow-growing hair, Fine hair, Sparse hair, Brittle hair	OMIM:601453
Classic Glucose Transporter Type 1 Deficiency Syndrome	Hypertonia, Apraxia, Chorea, Spasticity, Hemiparesis, Ataxia, Extrapyramidal dyskinesia, Myoclonu...	ORPHA:71277
Olmsted Syndrome, X-Linked	Parakeratosis, Subungual hyperkeratosis, Palmoplantar keratoderma, Hyperkeratosis, Palmoplantar h...	OMIM:300918
Aa Amyloidosis	Acute kidney injury, Enlarged kidney, Hepatomegaly, Abnormality of the kidney, Cholestasis, Nephr...	ORPHA:85445
Alpha-Methylacyl-Coa Racemase Deficiency	Increased circulating very long-chain fatty acid concentration, Depression, Cataract, Hypergonado...	OMIM:614307
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency	Limb ataxia, Difficulty walking, Pancreatitis, Oculomotor apraxia, Lower limb spasticity, Truncal...	ORPHA:412057
Xp22.13P22.2 Duplication Syndrome	High anterior hairline, Sparse hair, Attention deficit hyperactivity disorder, Polycystic ovaries...	ORPHA:284180
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Enlarged kidney, Hepatomegaly, Periportal fibrosis, Tubulointerstitial fibrosis, Polycystic kidne...	OMIM:263200
Lelis Syndrome	Nail dystrophy, Yellow nails, Hypohidrosis, Sparse lateral eyebrow, Abnormal toenail morphology, ...	ORPHA:140936
Hypobetalipoproteinemia, Familial, 1	Hypertriglyceridemia, Steatorrhea, Decreased HDL cholesterol concentration, Hypocholesterolemia, ...	OMIM:615558
H Syndrome	Corneal arcus, Hypertriglyceridemia, Enlarged kidney, Abnormality of the kidney, Lymphadenopathy,...	ORPHA:168569
Meckel Syndrome, Type 8	Polycystic kidney dysplasia, Enlarged kidney, Ambiguous genitalia, Hyperechogenic kidneys	OMIM:613885
Ichthyosis, Congenital, Autosomal Recessive 1	Nail dysplasia, Nail dystrophy, Parakeratosis, Sparse hair, Palmoplantar hyperkeratosis, Alopecia	OMIM:242300
Glycogen Storage Disease Ib	Xanthelasma, Enlarged kidney, Hepatomegaly, Pancreatitis, Decreased glomerular filtration rate, H...	OMIM:232220
Galactosemia Iv	Cataract, Prolonged neonatal jaundice, Hepatomegaly, Hypergalactosemia	OMIM:618881
Neuropathy, Hereditary Sensory, X-Linked	Decreased number of peripheral myelinated nerve fibers	OMIM:310470
Wagner Vitreoretinopathy	Optic atrophy, Peripheral tractional retinal detachment, Chorioretinal atrophy, Vitreoretinopathy...	OMIM:143200
Galactosemia Ii	Cataract, Prolonged neonatal jaundice, Hypergalactosemia, Galactosuria	OMIM:230200
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma	Palmoplantar scaling skin, Nail dystrophy, Woolly hair, Sparse eyelashes, Sparse eyebrow, Palmopl...	OMIM:605676
Heyn-Sproul-Jackson Syndrome	Sparse hair	OMIM:618724
Peroxisome Biogenesis Disorder 3B	Steatorrhea, Hepatomegaly, Retinal dystrophy, Elevated urine trihydroxycholestanoic acid level, E...	OMIM:266510
Nephronophthisis 3	Polydipsia, Polyuria, Enlarged kidney, Nephronophthisis, Hematuria, Tubulointerstitial fibrosis, ...	OMIM:604387
Trichothiodystrophy 5, Nonphotosensitive	Brittle hair, Slow-growing hair, Broad-based gait, Panhypopituitarism, Tiger tail banding, Gait a...	OMIM:300953
Partington Syndrome	Macroorchidism	ORPHA:94083
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome	Central adrenal insufficiency, Upper motor neuron dysfunction, Small pituitary gland, Alopecia	OMIM:612079
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Enlarged kidney, Hepatomegaly, Macrovesicular hepatic steatosis, Ureteral duplication, Cardiomega...	OMIM:608836
Charcot-Marie-Tooth Disease Type 1F	Limb ataxia, Demyelinating motor neuropathy, Impaired proprioception, Decreased nerve conduction ...	ORPHA:101085
Mccune-Albright Syndrome	Hepatocellular adenoma, Pancreatitis, Renal phosphate wasting, Pancytopenia, Cholestasis, Abnorma...	ORPHA:562
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome	Hypopigmentation of hair, Alopecia	ORPHA:1067
Corpus Callosum, Agenesis Of, With Facial Anomalies And Cerebellar Ataxia	Hirsutism, Long eyelashes, Thick eyebrow, Low anterior hairline, Sparse hair, Ataxia	OMIM:616819
Autosomal Dominant Polycystic Kidney Disease	Enlarged kidney, Elevated circulating creatinine concentration, Hematuria, Decreased glomerular f...	ORPHA:730
Phenylketonuria	Irritability, Increased level of hippuric acid in urine, Hyperactivity, Depression, Hyperphenylal...	OMIM:261600
Lethal Congenital Contracture Syndrome 8	Peripheral hypomyelination, Facial diplegia, Distal sensory impairment	OMIM:616287
Alopecia-Contractures-Dwarfism Mental Retardation Syndrome	Alopecia	OMIM:203550
Intellectual Developmental Disorder, X-Linked, Syndromic, Shashi Type	Macroorchidism	OMIM:300238
Hypertrichosis, Congenital Anterior Cervical, With Peripheral Sensory And Motor Neuropathy	Anterior cervical hypertrichosis	OMIM:239840
Rhizomelic Chondrodysplasia Punctata	Sparse body hair, Dry skin, Alopecia	ORPHA:177
Menkes Disease	Babinski sign, Hypertonia, Brittle hair, Cutis laxa, Sparse hair, Alopecia	OMIM:309400
Congenital Megacalycosis	Enlarged kidney, Hematuria, Dilatation of renal calices, Recurrent urinary tract infections, Neph...	ORPHA:93109
Lipoid Proteinosis Of Urbach And Wiethe	Hyperkeratosis, Patchy alopecia	OMIM:247100
Dermatopathia Pigmentosa Reticularis	Hypohidrosis, Alopecia of scalp, Nail dystrophy, Palmoplantar hyperkeratosis	OMIM:125595
Renal-Hepatic-Pancreatic Dysplasia 1	Enlarged kidney, Hyperechogenic pancreas, Cholestasis, Biliary cirrhosis, Splenomegaly, Stage 5 c...	OMIM:208540
Charcot-Marie-Tooth Disease, Dominant Intermediate E	Steppage gait, Distal sensory impairment, Onion bulb formation, Axonal loss	OMIM:614455
Spinocerebellar Ataxia 13	Optic atrophy, Limb ataxia, Progressive cerebellar ataxia, Impaired distal vibration sensation, C...	OMIM:605259
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 3	Paralysis, Difficulty walking	OMIM:608634
Adrenoleukodystrophy	Limb ataxia, Truncal ataxia, Incoordination, Paraparesis, Spastic paraplegia, Primary adrenal ins...	OMIM:300100
Hemifacial Atrophy, Progressive	Ataxia, Patchy alopecia, Poliosis	OMIM:141300
Focal Facial Dermal Dysplasia Type Iii	Highly arched eyebrow, Redundant skin, Distichiasis, Sparse lateral eyebrow, Abnormal hair patter...	ORPHA:1807
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits	Inability to walk, Oculomotor apraxia, Limb hypertonia, Spasticity, Hirsutism, Ataxia, Sparse hai...	OMIM:618087
Idiopathic Trachyonychia	Nail dystrophy, Toenail dysplasia, Thin nail, Ridged nail, Abnormality of the periungual region, ...	ORPHA:79153
Paternal Uniparental Disomy Of Chromosome 1	Macular dystrophy, Enlarged kidney, Abnormal retinal morphology on macular OCT, Polyphagia, Episo...	ORPHA:251004
Woolly Hair, Autosomal Dominant	Coarse hair, Slow-growing hair, Abnormal eyelash morphology, Woolly hair, Abnormal eyebrow morpho...	OMIM:194300
Ectodermal Dysplasia 10B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive	Periorbital wrinkles, Hypohidrosis, Sparse eyelashes, Sparse eyebrow, Anhidrosis, Sparse hair	OMIM:224900
Systemic Lupus Erythematosus 17	Chorea, Alopecia	OMIM:301080
Renal Dysplasia	Pelvic mass, Enlarged kidney, Urinary incontinence, Renal hypoplasia/aplasia, Abnormal nephron mo...	ORPHA:93108
Hereditary Mucoepithelial Dysplasia	Hyperkeratosis, Fine hair, Sparse hair, Alopecia	ORPHA:1839
Bile Acid Synthesis Defect, Congenital, 1	Cirrhosis, Jaundice, Intrahepatic cholestasis, Giant cell hepatitis, Hepatomegaly, Steatorrhea, S...	OMIM:607765
Intellectual Developmental Disorder, Autosomal Recessive 5	Hypertonia, Broad-based gait, Spasticity, Synophrys, Thick eyebrow, Sparse hair	OMIM:611091
Gand Syndrome	Sparse hair	OMIM:615074
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome	Enlarged kidney, Hirsutism, Enlarged polycystic ovaries, Elevated circulating growth hormone conc...	ORPHA:90301
Leukodystrophy, Hypomyelinating, 5	Delayed brainstem auditory evoked response conduction time, Abnormal cerebellum morphology, CNS h...	OMIM:610532
Niemann-Pick Disease, Type B	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Sea-blue histiocytosis, Anemia, He...	OMIM:607616
Ectodermal Dysplasia-Blindness Syndrome	Skin ulcer, Hyperkeratosis, Hypohidrosis, Abnormal fingernail morphology, Sparse hair, Fine hair	ORPHA:1806
Sézary Syndrome	Nail dystrophy, Tremor, Dry skin, Palmoplantar keratoderma, Alopecia	ORPHA:3162
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome	Nail dystrophy, Dystrophic fingernails, Palmoplantar hyperkeratosis, Highly arched eyebrow, Dystr...	ORPHA:3253
Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration	Optic atrophy, Difficulty walking, Mental deterioration, Dysdiadochokinesis, Cerebellar atrophy, ...	OMIM:612319
Alpha-Heavy Chain Disease	Alopecia	ORPHA:100025
Atkin-Flaitz Syndrome	Macroorchidism	ORPHA:1193
Cardiofaciocutaneous Syndrome 4	Alopecia of scalp, Decreased response to growth hormone stimulation test, Curly hair, Sparse eyel...	OMIM:615280
Atypical Juvenile Parkinsonism	Bradykinesia, Akinesia, Inability to walk, Resting tremor, Shuffling gait, Gait ataxia, Involunta...	ORPHA:391411
Pelizaeus-Merzbacher Disease	Optic atrophy, Cerebral dysmyelination, Sudanophilic leukodystrophy, Inability to walk, Abnormal ...	OMIM:312080
Lujan-Fryns Syndrome	Attention deficit hyperactivity disorder, Macroorchidism	ORPHA:776
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis	Decreased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Developmental c...	OMIM:616834
Cardiofaciocutaneous Syndrome 2	Fine hair, Absent eyebrow, Sparse hair, Curly hair	OMIM:615278
Prolactin Deficiency With Obesity And Enlarged Testes	Macroorchidism, Reduced circulating prolactin concentration	OMIM:264120
Combined Oxidative Phosphorylation Defect Type 7	Optic atrophy, Difficulty walking, Distal sensory impairment, Inability to walk, Peripheral axona...	ORPHA:254930
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma	Scaling skin, Alopecia of scalp, Nail dystrophy, Dry skin, Multinodular goiter, Palmoplantar kera...	OMIM:618373
Trisomy 20P	Abnormality of the kidney, Hypospadias, Thick hair, Highly arched eyebrow, Low posterior hairline...	ORPHA:261318
Proteasome-Associated Autoinflammatory Syndrome 5	Hypertriglyceridemia, Hepatomegaly, Splenomegaly	OMIM:619175
Glycosylphosphatidylinositol Biosynthesis Defect 25	Coarse hair, Sparse hair	OMIM:619985
Progeroid Syndrome, Petty Type	Brittle hair, Abnormality of the nail, Abnormal hair morphology, Redundant skin, Cutis laxa, Gene...	ORPHA:2963
Rapp-Hodgkin Syndrome	Nail dystrophy, Pili canaliculi, Decreased number of sweat glands, Small nail, Slow-growing hair,...	OMIM:129400
Dyskeratosis Congenita, Autosomal Recessive 6	Nail dystrophy, Ataxia, Sparse hair, Alopecia	OMIM:616353
Rhizomelic Chondrodysplasia Punctata, Type 1	Spasticity, Alopecia	OMIM:215100
Ectodermal Dysplasia-Sensorineural Deafness Syndrome	Coarse hair, Hyperkeratosis, Sparse hair, Brittle hair	ORPHA:1883
Potocki-Lupski Syndrome	Oral-pharyngeal dysphagia, Hyperactivity, Abnormal renal morphology, Motor stereotypy, Hypocholes...	OMIM:610883
Congenital Disorder Of Glycosylation, Type Il	Hepatomegaly, Polycystic kidney dysplasia, Ascites, Splenomegaly, Hypoalbuminemia, Hypocholestero...	OMIM:608776
Corticobasal Syndrome	Bradykinesia, Akinesia, Limb apraxia, Oromotor apraxia, Progressive extrapyramidal muscular rigid...	ORPHA:454887
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome	Hyperactivity, Macroorchidism, Elevated circulating growth hormone concentration, Aggressive beha...	ORPHA:85327
Polyembryoma	Isosexual precocious puberty, Abnormal peritoneum morphology, Abdominal mass, Elevated circulatin...	ORPHA:180229
Glycogen Storage Disease Ia	Xanthelasma, Enlarged kidney, Hepatomegaly, Pancreatitis, Decreased glomerular filtration rate, H...	OMIM:232200
Isolated Thyroid-Stimulating Hormone Deficiency	Depression, Pituitary hypothyroidism, Abnormal circulating thyroglobulin concentration, Thyroid h...	ORPHA:90674
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type)	Paralysis, Difficulty walking, Lethargy	OMIM:613710
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase	Splenomegaly, Hyperlipoproteinemia, Recurrent pancreatitis	OMIM:118830
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2	Truncal ataxia, Spasticity, Gait ataxia, Hypothyroidism, Sparse hair, Kinetic tremor, Fine hair, ...	OMIM:616817
Hypomelanosis Of Ito	Alopecia	OMIM:300337
Tetraamelia With Ectodermal Dysplasia And Lacrimal Duct Abnormalities	Cryptorchidism, Sparse hair	OMIM:273390
Cronkhite-Canada Syndrome	Hypoplastic toenails, Dystrophic fingernails, Dystrophic toenail, Patchy alopecia, Abnormal finge...	ORPHA:2930
Charcot-Marie-Tooth Disease-Deafness-Intellectual Disability Syndrome	Decreased nerve conduction velocity, Impaired vibration sensation at ankles, Gait ataxia, Decreas...	ORPHA:90103
Denys-Drash Syndrome	Ambiguous genitalia, male, Enlarged kidney, Gonadal dysgenesis, Focal segmental glomerulosclerosi...	OMIM:194080
Johnson Neuroectodermal Syndrome	Absent eyelashes, Absent eyebrow, Hypohidrosis, Sparse hair, Alopecia	ORPHA:2316
Hypotrichosis-Lymphedema-Telangiectasia Syndrome	Abnormal sweat gland morphology, Abnormality of the nail, Absent eyelashes, Sparse scalp hair, Ab...	OMIM:607823
Lamellar Ichthyosis	Abnormality of the nail, Hyperkeratosis, Dry skin, Lack of skin elasticity, Sparse hair, Aplasia/...	ORPHA:313
Trigeminal Neuralgia	Cranial nerve compression, CNS demyelination, Somatic sensory dysfunction, Peripheral demyelinati...	ORPHA:221091
Immunodeficiency, Common Variable, 12, With Autoimmunity	Pyoderma gangrenosum, Alopecia	OMIM:616576
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	Peripheral hypomyelination, Chorea, Ataxia, Abnormality of peripheral nerve conduction, Dysmetria...	ORPHA:48431
Giant Axonal Neuropathy 1, Autosomal Recessive	Steppage gait, Distal sensory impairment, Sensory axonal neuropathy, Facial palsy, Abnormal cereb...	OMIM:256850
Autoimmune Polyendocrinopathy Type 2	Hypoparathyroidism, Graves disease, Hashimoto thyroiditis, Primary adrenal insufficiency, Alopecia	ORPHA:3143
Alopecia Antibody Deficiency	Abnormal eyelash morphology, Sparse body hair, Sparse hair, Aplasia/Hypoplasia of the eyebrow	ORPHA:1006
Functioning Gonadotropic Adenoma	Abnormality of secondary sexual hair, Decreased response to growth hormone stimulation test, Isos...	ORPHA:91348
Bilateral Frontoparietal Polymicrogyria	Cerebral dysmyelination, Gait imbalance, Cerebellar vermis hypoplasia, Hypoplasia of the pons, Ab...	ORPHA:101070
Polyendocrine-Polyneuropathy Syndrome	Anterior pituitary hypoplasia, Central hypothyroidism, Decreased testicular size, Ataxia, Abnorma...	ORPHA:453533
Alopecia Universalis	Abnormality of the nail, Absent eyelashes, Patchy alopecia, Absent eyebrow, Alopecia universalis	ORPHA:701
Adult Syndrome	Breast hypoplasia, Skin ulcer, Toenail dysplasia, Abnormality of the nail, Hypoplastic nipples, S...	ORPHA:978
Shukla-Vernon Syndrome	Sparse hair, Broad-based gait	OMIM:301029
Pandas	Anorexia, Irritability, Obsessive-compulsive trait, Abnormal fear-induced behavior, Depression, E...	ORPHA:66624
East Syndrome	Peripheral hypomyelination, Difficulty walking, Inability to walk, Peripheral axonal neuropathy, ...	ORPHA:199343
Chanarin-Dorfman Syndrome	Ataxia, Alopecia	OMIM:275630
Kaposiform Lymphangiomatosis	Enlarged kidney, Anemia, Abnormality of the lymphatic system, Abnormal spleen morphology, Abnorma...	ORPHA:464329
Clark-Baraitser syndrome	Macroorchidism	OMIM:300602
Cone-Rod Dystrophy 16	Bone spicule pigmentation of the retina, Cone/cone-rod dystrophy, Attenuation of retinal blood ve...	OMIM:614500
Hypotrichosis-Intellectual Disability, Lopes Type	Sparse hair	ORPHA:2266
Maternal Uniparental Disomy Of Chromosome 4	Optic atrophy, Depression, Neurogenic bladder, Elevated circulating creatine kinase concentration...	ORPHA:96180
Senior-Loken Syndrome	Nephronophthisis, Retinal dystrophy, Abnormality of retinal pigmentation, Congenital hepatic fibr...	ORPHA:3156
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Parakeratosis, Thick hair, Dry skin, Bile duct proliferation, Sparse eyelashes, Sparse eyebrow, S...	OMIM:607626
Holocarboxylase Synthetase Deficiency	Ataxia, Lethargy, Alopecia	ORPHA:79242
Cholestasis, Progressive Familial Intrahepatic, 10	Jaundice, Portal fibrosis, Hepatomegaly, Increased serum bile acid concentration, Increased total...	OMIM:619868
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Optic atrophy, Macular coloboma, Severe demyelination of the white matter, Memory impairment, Abn...	ORPHA:79282
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Hepatomegaly, Ectopic kidney, Optic disc pallor, Cataract, Cryptorchidism, Cystic renal dysplasia	OMIM:613730
Hereditary Bullous Dystrophy, Macular Type	Nail dystrophy, Atrichia, Decreased testicular size, Congenital abnormal hair pattern, Cryptorchi...	ORPHA:1867
Alopecia-Intellectual Disability Syndrome 4	Bilateral cryptorchidism, Alopecia	OMIM:618840
Congenital Short Bowel Syndrome	Sparse hair	ORPHA:2301
Hydrocephalus-Obesity-Hypogonadism Syndrome	Sparse facial hair, Absent facial hair, Low posterior hairline	ORPHA:2183
Incontinentia Pigmenti	Nail dysplasia, Breast hypoplasia, Nail dystrophy, Erythema, Ridged nail, Breast aplasia, Onychog...	OMIM:308300
Jaberi-Elahi Syndrome	Inability to walk, Brittle hair, Broad-based gait, Appendicular spasticity, Tremor, Gait ataxia, ...	OMIM:617988
Centrifugal Lipodystrophy	Scaling skin, Erythema, Alopecia	ORPHA:90156
Fg Syndrome 3	Frontal upsweep of hair, Fine hair, Cryptorchidism, Sparse hair	OMIM:300406
Autosomal Recessive Polycystic Kidney Disease	Polydipsia, Enlarged kidney, Cholestasis, Ascites, Biliary hyperplasia, Splenomegaly, Oliguria, A...	ORPHA:731
Coenzyme Q10 Deficiency, Primary, 8	Peripheral demyelination	OMIM:616733
Eem Syndrome	Sparse body hair, Sparse scalp hair, Absent eyebrow	ORPHA:1897
Non-Functioning Pituitary Adenoma	Decreased response to growth hormone stimulation test, Male hypogonadism, Reduced circulating pro...	ORPHA:91349
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome	Optic atrophy, Difficulty walking, Peripheral axonal neuropathy, Impaired vibration sensation in ...	ORPHA:320406
Zellweger-Like Syndrome Without Peroxisomal Anomalies	Alopecia, Brittle hair	ORPHA:50812
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome	Hyperkeratosis, Hypohidrosis, Abnormal toenail morphology, Sparse hair, Alopecia	ORPHA:1005
Charcot-Marie-Tooth Disease, Axonal, Type 2K	Decreased motor nerve conduction velocity, Axonal regeneration, Distal sensory impairment, Decrea...	OMIM:607831
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor	Nephroblastoma, Enlarged kidney	OMIM:618272
Hypotrichosis Simplex Of The Scalp	Slow-growing scalp hair, Scaling skin, Alopecia of scalp, Parakeratosis, Hyperkeratosis, Sparse s...	ORPHA:90368
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome	Absent eyelashes, Sparse scalp hair, Absent eyebrow, Hydrocele testis, Sparse body hair, Alopecia	ORPHA:69735
Leber Congenital Amaurosis 2	Eye poking, Keratoconus, Optic disc pallor, Fundus atrophy, Attenuation of retinal blood vessels,...	OMIM:204100
Oculocerebrocutaneous Syndrome	Cryptorchidism, Alopecia	OMIM:164180
Filippi Syndrome	Frontal hirsutism, Cryptorchidism, Hypertrichosis, Sparse hair	OMIM:272440
Cholestasis, Progressive Familial Intrahepatic, 12	Jaundice, Hepatomegaly, Increased serum bile acid concentration, Hyperbilirubinemia, Cholestasis,...	OMIM:620010
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Optic atrophy, Enlarged kidney, Anemia, Thick hair, Long eyelashes, Nephrotic syndrome, Bone marr...	ORPHA:505248
Congenital Disorder Of Glycosylation, Type Im	Tetraplegia, Hyperkeratosis, Dry skin, Sparse eyelashes, Sparse eyebrow, Alopecia	OMIM:610768
Renal-Hepatic-Pancreatic Dysplasia 2	Enlarged kidney, Hepatomegaly, Cholestasis, Asplenia, Hepatic cysts, Hepatic fibrosis, Malformati...	OMIM:615415
Kufor-Rakeb Syndrome	Bradykinesia, Babinski sign, Hypertonia, Akinesia, Torticollis, Spasticity, Parkinsonism with fav...	OMIM:606693
Chylomicron Retention Disease	Steatorrhea, Hypotriglyceridemia, Decreased LDL cholesterol concentration, Hypoalbuminemia, Hypoc...	OMIM:246700
X-Linked Intellectual Disability, Shashi Type	Macroorchidism	ORPHA:85286
Cutaneous Telangiectasia And Cancer Syndrome, Familial	Nail dystrophy, Yellow nails, Ridged nail, Sparse lateral eyebrow, Onycholysis, Alopecia	OMIM:614564
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome	Akinesia, Spastic dysarthria, Gait imbalance, Oculomotor apraxia, Falls, Freezing of gait, Blepha...	ORPHA:240094
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type	Hyperactivity, Low frustration tolerance, Emotional lability, Compulsive behaviors, Macroorchidis...	OMIM:309520
Incontinentia Pigmenti	Skin ulcer, Hypoplastic fingernail, Abnormal hair morphology, Abnormality of the nail, Spasticity...	ORPHA:464
Gomez-Lopez-Hernandez Syndrome	Hypertonia, Decreased response to growth hormone stimulation test, Ataxia, Alopecia	OMIM:601853
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb	Alopecia of scalp, Hypospadias, Sparse eyelashes, Sparse eyebrow, Macroorchidism, Iris coloboma	OMIM:618874
Tetrasomy 12P	Hypohidrosis, Sparse eyebrow, Sparse hair	ORPHA:884
Tooth Agenesis, Selective, 4	Dystrophic fingernails, Dystrophic toenail, Sparse scalp hair, Dry skin, Hypohidrosis, Sparse bod...	OMIM:150400
Tricho-Retino-Dento-Digital Syndrome	Uncombable hair, Sparse hair	ORPHA:1264
Trimethylaminuria	Trimethylaminuria, Anemia, Depression, Splenomegaly, Neutropenia	OMIM:602079
Igg4-Related Kidney Disease	Enlarged kidney, Sclerosing cholangitis, Elevated circulating creatinine concentration, Cholecyst...	ORPHA:449395
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease	Peripheral hypomyelination, Aganglionic megacolon, Decreased nerve conduction velocity, Distal se...	OMIM:609136
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hypertriglyceridemia, Hepatomegaly, Jaundice, Hemophagocytosis, Anemia, Lymphadenopathy, Thromboc...	OMIM:603552
Galactose Epimerase Deficiency	Jaundice, Hepatomegaly, Splenomegaly, Cataract, Aminoaciduria	ORPHA:79238
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency	Female external genitalia in individual with 46,XY karyotype, Hyperkalemia, Abnormal female exter...	ORPHA:90790
Epidermolysis Bullosa Simplex With Muscular Dystrophy	Skin vesicle, Alopecia, Hypoplastic fingernail, Hyperconvex fingernails	ORPHA:257
Anauxetic Dysplasia 2	Nail dysplasia, Sparse hair, Small nail	OMIM:617396
Isolated Follicle Stimulating Hormone Deficiency	Azoospermia, Oligozoospermia, Testicular atrophy, Female hypogonadism, Gonadotropin deficiency, D...	ORPHA:52901
Charcot-Marie-Tooth Disease Type 1B	Somatic sensory dysfunction, Peripheral axonal neuropathy, Decreased nerve conduction velocity, P...	ORPHA:101082
Neurodevelopmental Disorder With Speech Delay And Variable Ocular Anomalies	Sparse eyebrow, Sparse hair	OMIM:619989
Autoimmune Polyendocrinopathy Type 1	Hypoparathyroidism, Alopecia, Adrenal hyperplasia, Primary adrenal insufficiency, Abnormal finger...	ORPHA:3453
Intellectual Developmental Disorder, Autosomal Dominant 65	Low posterior hairline, Synophrys, Ataxia, Thin eyebrow, Sparse hair, Clumsiness	OMIM:619320
Tyrosinemia, Type I	Elevated urinary delta-aminolevulinic acid, Cirrhosis, Hepatomegaly, Anemia, Enlarged kidney, Glo...	OMIM:276700
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7	Vocal cord paresis, Difficulty walking, Vocal cord paralysis, Tremor	OMIM:158580
Retinitis Pigmentosa 4	Bone spicule pigmentation of the retina, Retinal atrophy, Attenuation of retinal blood vessels, C...	OMIM:613731
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome	Alopecia	ORPHA:88630
Renpenning Syndrome	Decreased testicular size, Abnormal hairshaft morphology, Thin eyebrow, Alopecia	ORPHA:3242
Blepharocheilodontic Syndrome 1	Nail dysplasia, High anterior hairline, Small nail, Distichiasis, Sparse hair	OMIM:119580
Sporadic Creutzfeldt-Jakob Disease	Memory impairment, Confusion, Astrocytosis, Gliosis, Cognitive impairment, Ataxia, Dementia	ORPHA:204
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Hypertriglyceridemia, Xanthelasma, Hepatocellular adenoma, Enlarged kidney, Tubulointerstitial fi...	ORPHA:79259
Charcot-Marie-Tooth Disease Type 4C	Optic atrophy, Difficulty walking, Inability to walk, Impaired pain sensation, Positive Romberg s...	ORPHA:99949
Congenital Disorder Of Glycosylation, Type Iio	Cholestatic liver disease, Cirrhosis, Hepatomegaly, Decreased circulating ceruloplasmin concentra...	OMIM:616828
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism	Bradykinesia, Akinesia, Resting tremor, Freezing of gait, Rigidity, Parkinsonism, Clumsiness, Pos...	OMIM:619911
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome	Absent eyelashes, Sparse scalp hair, Absent eyebrow, Sparse eyelashes, Hydrocele testis, Epiderma...	OMIM:137940
Adams-Oliver Syndrome 2	Alopecia, Low anterior hairline, Limb hypertonia, Small nail	OMIM:614219
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability	Optic atrophy, Hematuria, Retinal detachment, Corneal opacity, Posterior embryotoxon, Chorioretin...	ORPHA:1473
Spinocerebellar Ataxia Type 27	Limb ataxia, Akinesia, Difficulty walking, Truncal ataxia, Tremor, Gait disturbance, Gait ataxia,...	ORPHA:98764
Parkinson Disease 17	Bradykinesia, Akinesia, Resting tremor, Tremor, Rigidity, Parkinsonism	OMIM:614203
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome	Nail dystrophy, Abnormality of the anterior pituitary, Brittle hair, Posterior pituitary hypoplas...	ORPHA:75389
Hypogonadotropic Hypogonadism 7 With Or Without Anosmia	Decreased testicular size, Cryptorchidism, Sparse pubic hair, Sparse axillary hair	OMIM:146110
Galactosemia Iii	Jaundice, Hepatomegaly, Galactosuria, Hypergalactosemia, Splenomegaly, Aminoaciduria	OMIM:230350
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome	Scarring alopecia of scalp, Sparse scalp hair, Sparse eyelashes, Sparse body hair, Sparse eyebrow	ORPHA:59303
Coats Disease	Abnormal anterior chamber morphology, Retinal detachment, Aplasia/Hypoplasia of the iris, Abnorma...	ORPHA:190
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome	Nail dysplasia, Dry hair, Brittle hair, Progressive hypotrichosis, Sparse eyelashes, Sparse eyebr...	OMIM:225060
Epidermolysis Bullosa, Lethal Acantholytic	Absent fingernail, Anonychia, Alopecia totalis, Alopecia universalis, Acantholysis	OMIM:609638
Pigmented Nodular Adrenocortical Disease, Primary, 4	Alopecia, Hirsutism, Adrenal hyperplasia, Primary hypercortisolism, Increased circulating cortiso...	OMIM:615830
Fanconi Anemia, Complementation Group S	Ovarian neoplasm, Long eyelashes, Low anterior hairline, Ataxia, Sparse hair, Ovarian carcinoma	OMIM:617883
Ane Syndrome	Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio...	ORPHA:157954
Lipodystrophy, Congenital Generalized, Type 3	Hypertriglyceridemia, Hepatomegaly, Hypercholesterolemia, Hypocalcemia, Hirsutism, Hepatosplenome...	OMIM:612526
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1	Inability to walk, Retinal dystrophy, Cerebellar vermis hypoplasia, Facial palsy, Cerebellar dysp...	OMIM:613155
Microphthalmia, Isolated 5	Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Optic disc drusen, C...	OMIM:611040
Cardiocranial Syndrome, Pfeiffer Type	Cryptorchidism, Abnormal hair whorl, Torticollis, Sparse hair	ORPHA:2872
Trichothiodystrophy 4, Nonphotosensitive	Nail dysplasia, Trichorrhexis nodosa, Nail dystrophy, Small nail, Brittle hair, Abnormality of ha...	OMIM:234050
Satoyoshi Syndrome	Alopecia universalis, Alopecia	OMIM:600705
Localized Junctional Epidermolysis Bullosa	Dystrophic fingernails, Nail dystrophy, Scarring alopecia of scalp, Dystrophic toenail, Sparse pu...	ORPHA:251393
Aromatase Deficiency	Macroorchidism, postpubertal, Hyperlipidemia, Enlarged polycystic ovaries, Hypergonadotropic hypo...	ORPHA:91
Leber Congenital Amaurosis 8	Macular coloboma, Eye poking, Keratoconus, Chorioretinal atrophy, Nummular pigmentation of the fu...	OMIM:613835
Acute Peripheral Arterial Occlusion	Paralysis, Pallor	ORPHA:90064
Retinitis Pigmentosa 9	Bone spicule pigmentation of the retina, Cataract, Macular edema, Rod-cone dystrophy, Macular atr...	OMIM:180104
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome	Cardiomegaly, Macroorchidism	ORPHA:324410
Trichohepatoenteric Syndrome 2	Trichorrhexis nodosa, Brittle hair, Uncombable hair, Woolly hair, Sparse hair	OMIM:614602
Omenn Syndrome	Thyroiditis, Dry skin, Hypothyroidism, Aplasia/Hypoplasia of the eyebrow, Alopecia	ORPHA:39041
Hypertriglyceridemia, Transient Infantile	Hypertriglyceridemia, Hepatomegaly, Splenomegaly, Hepatic fibrosis, Hepatic steatosis	OMIM:614480
Abetalipoproteinemia	Steatorrhea, Decreased HDL cholesterol concentration, Hypotriglyceridemia, Reticulocytosis, Cardi...	ORPHA:14
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism	Polycystic ovaries, Dry skin, Sparse hair	OMIM:268020
Dentatorubral Pallidoluysian Atrophy	Limb ataxia, Impaired proprioception, Progressive cerebellar ataxia, Dyssynergia, Memory impairme...	ORPHA:101
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia	Scaling skin, Absent hair, Nail dystrophy, Trichorrhexis nodosa, Facial erythema, Ridged nail, Ab...	ORPHA:1010
Charcot-Marie-Tooth Disease, Axonal, Type 2R	Inability to walk, Axonal degeneration, Broad-based gait, Peripheral axonal neuropathy, Decreased...	OMIM:615490
Agenesis Of The Corpus Callosum With Peripheral Neuropathy	Decreased sensory nerve conduction velocity, Decreased nerve conduction velocity, Inability to wa...	OMIM:218000
Autoimmune Lymphoproliferative Syndrome, Type Iii	Autoimmune hemolytic anemia, Stage 5 chronic kidney disease, Hepatomegaly, Mediastinal lymphadeno...	OMIM:615559
Galactokinase Deficiency	Hepatomegaly, Increased level of galactitol in plasma, Hypergalactosemia, Hypergonadotropic hypog...	ORPHA:79237
Neurodevelopmental Disorder With Spasticity, Seizures, And Brain Abnormalities	Cerebral palsy, Sparse hair, Appendicular spasticity	OMIM:620001
Hemochromatosis, Type 2B	Cirrhosis, Hepatomegaly, Anemia, Increased circulating iron concentration, Splenomegaly, Hypogona...	OMIM:613313
Tangier Disease	Hypertriglyceridemia, Nail dystrophy, Anemia, Corneal opacity, Chronic noninfectious lymphadenopa...	ORPHA:31150
Ifap Syndrome 2	Perioral erythema, Nail dystrophy, Atrichia, Sparse hair	OMIM:619016
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome	External genital hypoplasia, Retinal coloboma, Hypogonadism, Cataract, Cryptorchidism, Rod-cone d...	ORPHA:363741
Congenital Disorder Of Glycosylation, Type Ia	Steatorrhea, Hepatomegaly, Proximal tubulopathy, Renal cyst, Hypergonadotropic hypogonadism, Neph...	OMIM:212065
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z	Tip-toe gait, Decreased distal sensory nerve action potential, Difficulty walking, Inability to w...	ORPHA:466768
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome	Broad-based gait, Synophrys, Hypothyroidism, Low anterior hairline, Sparse hair, Spastic parapare...	ORPHA:391408
Paternal 20Q13.2Q13.3 Microdeletion Syndrome	Sparse hair, Aplasia/Hypoplasia of the eyebrow	ORPHA:261304
Trichothiodystrophy 1, Photosensitive	Trichorrhexis nodosa, Nail dystrophy, Small nail, Brittle hair, Hyperkeratosis, Tiger tail bandin...	OMIM:601675
2Q32Q33 Microdeletion Syndrome	Decreased testicular size, Fine hair, Sparse hair	ORPHA:251019
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive	Palmoplantar keratoderma, Fragile nails, Sparse hair, Alopecia	OMIM:242150
Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, And Other Abnormalities	Hypoplastic nipples, Sparse hair, Small nail	OMIM:273400
Chromosome Xq27.3-Q28 Duplication Syndrome	Decreased testicular size, Sparse body hair, Increased circulating gonadotropin level, Cryptorchi...	OMIM:300869
Diaphanospondylodysostosis	Enlarged kidney, Abnormal liver lobulation, Nephroblastomatosis, Nephrogenic rest, Horseshoe kidn...	OMIM:608022
Stickler Syndrome Type 2	Abnormal vitreous humor morphology, Retinal detachment, Corneal opacity, Retinopathy, Cataract	ORPHA:90654
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked	Brittle hair, Periorbital wrinkles, Absent eyelashes, Hypoplastic nipples, Absent nipple, Dry ski...	OMIM:305100
Cranioectodermal Dysplasia	Abnormal fingernail morphology, Abnormal toenail morphology, Sparse hair	ORPHA:1515
Ectodermal Dysplasia And Immunodeficiency 2	Sparse scalp hair, Dry skin, Hypohidrosis, Anhidrosis, Sparse hair, Aplasia of the sweat glands	OMIM:612132
Desbuquois Syndrome	Abnormal eyelash morphology, Sparse hair	ORPHA:1425
Peho Syndrome	Optic atrophy, Cerebellar atrophy, Peripheral dysmyelination	OMIM:260565
Gyrate Atrophy Of Choroid And Retina	Chorioretinal hyperpigmentation, Hyperornithinemia, Chorioretinal degeneration, Abnormal hair mor...	ORPHA:414
Familial Exudative Vitreoretinopathy	Macular telangiectasia, Macular edema, Macular exudate, Chorioretinal atrophy, Vitreous floaters,...	ORPHA:891
Myopia, High, With Cataract And Vitreoretinal Degeneration	Retinal detachment, Peripheral vitreoretinal degeneration, Vitreous floaters, Lattice retinal deg...	OMIM:614292
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency	Hypohidrosis, Nail dystrophy, Hypopituitarism, Sparse hair	ORPHA:98813
Hyperbilirubinemia, Shunt, Primary	Jaundice, Hepatomegaly, Hyperbilirubinemia, Anemia of inadequate production, Reticulocytosis, Spl...	OMIM:237800
Papillorenal Syndrome	Stage 5 chronic kidney disease, Elevated circulating creatinine concentration, Renal malrotation,...	OMIM:120330
Even-Plus Syndrome	Highly arched eyebrow, Sparse hair, Synophrys	OMIM:616854
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Optic atrophy, Anorexia, Hepatomegaly, Pancreatitis, Anemia, Hyperammonemia, Thrombocytopenia, Sp...	ORPHA:79312
Mitochondrial Complex I Deficiency, Nuclear Type 33	Spasticity, Loss of ambulation, Sparse hair	OMIM:618253
Pancreatic Lipase Deficiency	Steatorrhea, Hypocholesterolemia	OMIM:614338
Intellectual Developmental Disorder, Autosomal Dominant 54	Hyperkinetic movements, Inability to walk, Thin nail, Athetoid cerebral palsy, Lower limb spastic...	OMIM:617799
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1	Paralysis, Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Parkinsonism	OMIM:105500
Monosomy 18P	Hypothyroidism, Low posterior hairline, Alopecia	ORPHA:1598
Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome	Supernumerary nipple, Alopecia	ORPHA:3224
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 2	Paralysis	OMIM:158590
Retinitis Pigmentosa 84	Macular coloboma, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, ...	OMIM:618220
Acrodermatitis Enteropathica	Skin ulcer, Ridged nail, Abnormality of the nail, Dry skin, Abnormal eyebrow morphology, Ridged f...	ORPHA:37
Multicystic Dysplastic Kidney	Enlarged kidney, Unilateral renal agenesis, Ureterovesical junction obstruction, Vesicoureteral r...	ORPHA:1851
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome	Difficulty walking, Retinal dystrophy, Waddling gait, Ataxia, Unsteady gait, Delayed peripheral m...	ORPHA:464282
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections	Dry skin, Alopecia	OMIM:618282
Spinocerebellar Ataxia 21	Limb ataxia, Akinesia, Progressive cerebellar ataxia, Abnormality of extrapyramidal motor functio...	OMIM:607454
Megalocornea	Corneal arcus, Iris transillumination defect, Iridodonesis, Astigmatism, Mosaic corneal dystrophy...	OMIM:309300
Bilateral Parasagittal Parieto-Occipital Polymicrogyria	Pseudobulbar paralysis, Abnormal fear-induced behavior, Aggressive behavior	ORPHA:208441
Acrocephalopolydactylous Dysplasia	Enlarged kidney, Hepatomegaly, Cystic renal dysplasia, Ascites, Hepatic fibrosis, Pancreatic fibr...	OMIM:200995
Dubowitz Syndrome	Aplastic anemia, Hypospadias, Hyperactivity, Megalocornea, Sparse scalp hair, Hypoplasia of the i...	OMIM:223370
Chylomicron Retention Disease	Steatorrhea, Retinopathy, Increased hepatocellular lipid droplets, Hypocholesterolemia, Hepatic s...	ORPHA:71
Progressive Multifocal Leukoencephalopathy	Mental deterioration, Gait ataxia, Cognitive impairment, CNS demyelination, Abnormal oligodendrog...	ORPHA:217260
Diabetes, Deafness, Developmental Delay, And Short Stature Syndrome	Hypopituitarism, Alopecia	OMIM:620651
Androgen Insensitivity Syndrome	Sparse pubic hair, Elevated circulating luteinizing hormone level, Elevated circulating follicle ...	OMIM:300068
Ectodermal Dysplasia-Skin Fragility Syndrome	Scaling skin, Nail dystrophy, Difficulty walking, Hypohidrosis, Sparse hair, Palmoplantar keratod...	ORPHA:158668
19Q13.11 Microdeletion Syndrome	Nail dysplasia, Sparse or absent eyelashes, Dry skin, Sparse lateral eyebrow, Sparse hair, Fine h...	ORPHA:217346
Kdm5C-Related Syndromic X-Linked Intellectual Disability	Decreased testicular size, Spasticity, Cryptorchidism, Patchy alopecia	ORPHA:85279
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Hypertriglyceridemia, Increased circulating ferritin concentration, Anemia, Acute myeloid leukemi...	ORPHA:158057
Hemoglobin D Disease	Anemia, HbS hemoglobin, Reduced alpha/beta synthesis ratio, Sickled erythrocytes, Decreased mean ...	ORPHA:90039
Autosomal Recessive Spastic Paraplegia Type 55	Optic atrophy, Decreased sensory nerve conduction velocity, Distal sensory impairment, Optic neur...	ORPHA:320375
Abnormal Hair, Joint Laxity, And Developmental Delay	Trichorrhexis nodosa, Small nail, Sparse lateral eyebrow, Fragile nails, Pili torti, Alopecia	OMIM:261990
Lethal Hemolytic Anemia-Genital Anomalies Syndrome	Renal hypoplasia/aplasia, Anemia, Hypospadias, Hypoplasia of penis, Ascites, Abnormality of the u...	ORPHA:1046
Acrofacial Dysostosis, Palagonia Type	Sparse eyelashes, Sparse lateral eyebrow, Low anterior hairline, Thin eyebrow, Sparse hair, Pili ...	ORPHA:1787
Cutis Laxa, Autosomal Recessive, Type Iiib	Dermal translucency, Excessive wrinkled skin, Athetosis, Cutis laxa, Sparse hair, Fine hair, Cryp...	OMIM:614438
Smith-Lemli-Opitz Syndrome	Cholestatic liver disease, Hyperactivity, Bifid scrotum, Splenomegaly, Small scrotum, Septate vag...	OMIM:270400
Hypocalcemic Vitamin D-Resistant Rickets	Gait disturbance, Hyperparathyroidism, Alopecia	ORPHA:93160
Bleeding Disorder, Platelet-Type, 21	Alopecia	OMIM:617443
Trichorhinophalangeal Syndrome, Type Iii	Sparse lateral eyebrow, Fine hair, Epidermal hyperkeratosis, Sparse hair	OMIM:190351
Griscelli Syndrome Type 2	Premature graying of hair, Jaundice, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, Pancytopeni...	ORPHA:79477
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones	Sparse facial hair, Sparse axillary hair	OMIM:608154
Spinocerebellar Ataxia Type 21	Akinesia, Progressive cerebellar ataxia, Abnormality of extrapyramidal motor function, Tremor, Ga...	ORPHA:98773
Cutis Laxa, Autosomal Recessive, Type Iiia	Cutis laxa, Athetosis, Sparse hair, Cryptorchidism	OMIM:219150
Beckwith-Wiedemann Syndrome	Enlarged kidney, Hepatomegaly, Cardiomegaly, Renal cortical cysts, Vesicoureteral reflux, Nephrol...	OMIM:130650
Galactosemia I	Increased level of galactitol in red blood cells, Cirrhosis, Hepatomegaly, Galactosuria, Increase...	OMIM:230400
Hemoglobin H Disease	HbH hemoglobin, Hepatomegaly, Reduced alpha/beta synthesis ratio, Splenomegaly, Hemolytic anemia	OMIM:613978
Keutel Syndrome	Alopecia	ORPHA:85202
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome	Retinal coloboma, Hypogonadism, Cataract, Cryptorchidism, Rod-cone dystrophy	OMIM:601794
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome	Dystrophic fingernails, Hyperconvex fingernails, Dystrophic toenail, Hypohidrosis, Sparse eyelash...	ORPHA:1071
Noonan Syndrome 6	Long eyebrows, Low posterior hairline, Curly hair, Sparse hair, Cryptorchidism	OMIM:613224
Bresek Syndrome	Decreased testicular size, Cryptorchidism, Alopecia	ORPHA:85284
Nephronophthisis 19	Hepatomegaly, Nephronophthisis, Cholestasis, Bile duct proliferation, Hyperechogenic kidneys, Spl...	OMIM:616217
Classic Progressive Supranuclear Palsy Syndrome	Bradykinesia, Akinesia, Gait imbalance, Falls, Progressive extrapyramidal muscular rigidity, Park...	ORPHA:240071
Hyperparathyroidism, Transient Neonatal	Enlarged kidney, Unilateral renal agenesis, Splenic cyst, Ovarian cyst, Hyperparathyroidism	OMIM:618188
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome	Fine hair, Cryptorchidism, Alopecia	ORPHA:228390
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies	Hypothyroidism, Patchy alopecia, Sparse hair	OMIM:617763
Giant Cell Arteritis	Skin ulcer, Hyperhidrosis, Ataxia, Alopecia	ORPHA:397
Leprosy	Steppage gait, Loss of eyelashes, Acral ulceration, Hyperkeratosis, Penetrating foot ulcers, Abse...	ORPHA:548
Testicular Regression Syndrome	Abnormal male internal genitalia morphology, Aplasia/Hypoplasia of the testes, Hypoplasia of peni...	ORPHA:983
Neuropathy, Hereditary Sensory And Autonomic, Type Ia	Decreased sensory nerve conduction velocity, Chronic axonal neuropathy, Distal sensory impairment...	OMIM:162400
Cholesteryl Ester Storage Disease	Hypertriglyceridemia, Cirrhosis, Jaundice, Hepatomegaly, Splenomegaly, Hypercholesterolemia	ORPHA:75234
Endocrine-Cerebroosteodysplasia	Enlarged kidney, Hypospadias, Microphallus, Hyperechogenic kidneys, Small scrotum, Ambiguous geni...	OMIM:612651
Poretti-Boltshauser Syndrome	Retinal thinning, Cerebellar cyst, Retinal dystrophy, Cerebellar vermis hypoplasia, Retinal atrop...	OMIM:615960
Mandibulofacial Dysostosis With Alopecia	Sparse eyelashes, Alopecia	OMIM:616367
Kury-Isidor Syndrome	Hypertrichosis, Alopecia	OMIM:619762
Dyskeratosis Congenita, Autosomal Dominant 3	Nail dysplasia, Premature graying of hair, Nail dystrophy, Dry skin, Ataxia, Fine hair, Cryptorch...	OMIM:613990
Hemihyperplasia-Multiple Lipomatosis Syndrome	Enlarged kidney, Abnormality of the lymphatic system, Nephroblastoma, Ovarian serous cystadenoma,...	ORPHA:276280
Auriculocondylar Syndrome 2B	Opisthotonus, Sparse hair, Synophrys	OMIM:620458
Joubert Syndrome 37	Decreased testicular size, Oculomotor apraxia, Cryptorchidism, Sparse hair	OMIM:619185
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome	Hypospadias, Hypoplasia of penis, Aplasia/Hypoplasia of the lens, Cataract, Cryptorchidism	ORPHA:1381
Cholestasis-Lymphedema Syndrome	Cirrhosis, Jaundice, Hepatomegaly, Hyperlipidemia, Neonatal cholestatic liver disease, Splenomega...	OMIM:214900
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor	Alopecia	OMIM:600785
Alg12-Cdg	Hypospadias, Retinal detachment, B lymphocytopenia, Low posterior hairline, Hyponatremia, Thrombo...	ORPHA:79324
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly	Chronic tubulointerstitial nephritis, Hepatomegaly, Elevated circulating creatinine concentration...	OMIM:614376
Mucoepithelial Dysplasia, Hereditary	Nail dysplasia, Nail dystrophy, Follicular hyperkeratosis, Chronic monilial nail infection, Spars...	OMIM:158310
Cataract 50 With Or Without Glaucoma	Retinal detachment, Persistent pupillary membrane, Cataract	OMIM:620253
Dyskeratosis Congenita	Premature graying of hair, Nail dystrophy, Neoplasm of the pancreas, Skin ulcer, Aplastic/hypopla...	ORPHA:1775
Porphyria, Acute Hepatic	Paralysis, Respiratory paralysis	OMIM:612740
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Nail dysplasia, Nail dystrophy, Xerostomia, Alopecia	OMIM:175500
Laryngeal Adductor Paralysis	Paralysis	OMIM:150270
Amyloidosis, Familial Visceral	Hepatomegaly, Hematuria, Cholestasis, Nephrotic syndrome, Splenomegaly, Proteinuria, Renal amyloi...	OMIM:105200
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11	Cerebellar cyst, Retinal detachment, Optic nerve hypoplasia, Cerebellar dysplasia, Hypoplasia of ...	OMIM:615181
Bardet-Biedl Syndrome 9	Polydipsia, Bone spicule pigmentation of the retina, Astigmatism, Renal insufficiency, Polyphagia...	OMIM:615986
Noonan Syndrome 14	Dry skin, Low posterior hairline, Curly hair, Sparse eyebrow, Hyperhidrosis, Sparse hair, Cryptor...	OMIM:619745
Braddock-Carey Syndrome 1	Spastic diplegia, Sparse hair, Curly hair	OMIM:619980
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3	Agitation, High anterior hairline, Self-mutilation, Stereotypical hand wringing, Impulsivity, Pre...	OMIM:619950
Beckwith-Wiedemann Syndrome	Enlarged kidney, Ureteral duplication, Splenomegaly, Multiple renal cysts, Cardiomegaly, Abnormal...	ORPHA:116
Mucolipidosis Ii Alpha/Beta	Enlarged kidney, Hepatomegaly, Brittle hair, Increased serum beta-hexosaminidase, Megalocornea, M...	OMIM:252500
Holocarboxylase Synthetase Deficiency	Hypertonia, Lethargy, Alopecia	OMIM:253270
Exudative Vitreoretinopathy 6	Posterior vitreous detachment, Retinal exudate, Patchy atrophy of the retinal pigment epithelium,...	OMIM:616468
Neurodegeneration With Brain Iron Accumulation 5	Bradykinesia, Akinesia, Tremor, Rigidity, Parkinsonism, Spastic paraparesis	OMIM:300894
Hutchinson-Gilford Progeria Syndrome	Alopecia	OMIM:176670
Glut1 Deficiency Syndrome 2	Irritability, Reduced haptoglobin level, Reticulocytosis, Splenomegaly, Hemolytic anemia	OMIM:612126
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Hypertriglyceridemia, Anemia, Lymphadenopathy, Hemophagocytosis, Thrombocytopenia, Hepatosplenome...	OMIM:613101
Rodrigues Blindness	Fine hair, Sparse hair	OMIM:268320
Postencephalitic Parkinsonism	Bradykinesia, Babinski sign, Akinesia, Resting tremor, Tremor by anatomical site, Cogwheel rigidi...	ORPHA:97349
Proteus Syndrome	Retinal hamartoma, Enlarged kidney, Buphthalmos, Ovarian neoplasm, Long penis, Testicular neoplas...	ORPHA:744
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate	Nail dystrophy, Absent eyelashes, Patchy alopecia, Anhidrosis, Sparse eyelashes, Sparse body hair...	OMIM:106260
Peroxisome Biogenesis Disorder 2A (Zellweger)	Optic nerve dysplasia, Clitoral hypertrophy, Jaundice, Hepatomegaly, Intrahepatic biliary dysgene...	OMIM:214110
Immunodeficiency, Common Variable, 10	Alopecia totalis, Central adrenal insufficiency, Decreased response to growth hormone stimulation...	OMIM:615577
Agel Amyloidosis	Nail dystrophy, Dry skin, Cutis laxa, Ataxia, Sparse hair, Xerostomia	ORPHA:85448
Wolfram Syndrome 1	Optic atrophy, Hydroureter, Megaloblastic anemia, Neurogenic bladder, Sideroblastic anemia, Hydro...	OMIM:222300
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Nail dystrophy, Hypoparathyroidism, Cholelithiasis, Alopecia, Hypothyroidism, Primary adrenal ins...	OMIM:240300
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance	Peripheral hypomyelination, Chronic axonal neuropathy, Dysdiadochokinesis, Cerebellar atrophy, At...	OMIM:612780
X-Linked Agammaglobulinemia	Skin ulcer, Alopecia	ORPHA:47
Manganese Poisoning	Bradykinesia, Hypertonia, Akinesia, Abnormality of extrapyramidal motor function, Cogwheel rigidi...	ORPHA:306682
Cerebroretinal Microangiopathy With Calcifications And Cysts 1	Nail dysplasia, Premature graying of hair, Nail dystrophy, Abnormality of extrapyramidal motor fu...	OMIM:612199
Horner Syndrome, Congenital	Paralysis	OMIM:143000
Hereditary Butyrylcholinesterase Deficiency	Paralysis	ORPHA:132
Alg9-Cdg	Irritability, Enlarged kidney, Hepatomegaly, Periportal fibrosis, Hypoplasia of the ovary, Hypopl...	ORPHA:79328
Revesz Syndrome	Nail dystrophy, Hypertonia, Broad-based gait, Nail pits, Ataxia, Ridged fingernail, Sparse hair, ...	OMIM:268130
Dyskeratosis Congenita, Autosomal Dominant 1	Premature graying of hair, Nail dystrophy, Ridged nail, Nail pits, Ataxia, Sparse hair, Alopecia	OMIM:127550
Hypoparathyroidism, Familial Isolated, 1	Irritability, Hypocalcemic seizures, Hypoparathyroidism, Hypocalcemia, Nephrocalcinosis, Cataract...	OMIM:146200
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells	Decreased helper T cell proportion, Hypersplenism, Splenomegaly, Pancytopenia	OMIM:183350
Red Cell Phospholipid Defect With Hemolysis	Hyperbilirubinemia, Intermittent jaundice, Splenomegaly, Reticulocytosis	OMIM:179700
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome	Posterior lenticonus, Retinal dystrophy, Microcornea, Remnants of the hyaloid vascular system, Ch...	ORPHA:231736
Myasthenic Syndrome, Congenital, 16	Periodic paralysis, Gait disturbance	OMIM:614198
Pierson Syndrome	Posterior lenticonus, Hypoplasia of the ciliary body, Retinal detachment, Hypoproteinemia, Remnan...	OMIM:609049
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome	Small nail, Absent eyelashes, Spasticity, Sparse scalp hair, Bilateral cryptorchidism, Absent eye...	ORPHA:544488
Hemochromatosis, Type 2A	Cirrhosis, Hepatomegaly, Azoospermia, Increased circulating iron concentration, Splenomegaly, Inc...	OMIM:602390
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Chronic hemolytic anemia, Anemia, Reduced red cell pyruvate kinase level, Reticulocytosis, Poikil...	ORPHA:766
Macs Syndrome	Redundant skin, Cutis laxa, Sparse eyebrow, Sparse hair, Cryptorchidism, Alopecia	OMIM:613075
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency	Lethargy, Opisthotonus, Cerebral palsy, Alopecia	OMIM:210210
Cerebrooculofacioskeletal Syndrome 2	Sparse hair	OMIM:610756
Satoyoshi Syndrome	Sparse or absent eyelashes, Abnormal hair morphology, Hypoplasia of the ovary, Abnormality of the...	ORPHA:3130
Helsmoortel-Van Der Aa Syndrome	Irritability, Enlarged kidney, Astigmatism, Decreased response to growth hormone stimulation test...	OMIM:615873
Beta-Thalassemia	Irritability, Hepatomegaly, Anemia, Abnormality of iron homeostasis, Cholelithiasis, Thrombocytop...	ORPHA:848
Glycogen Storage Disease Ixa1	Hypertriglyceridemia, Hepatomegaly, Hyperuricemia, Splenomegaly, Hypercholesterolemia	OMIM:306000
Griscelli Syndrome	Abnormal circulating lipid concentration, Premature graying of hair, Jaundice, Hepatomegaly, Lymp...	ORPHA:381
Leprechaunism	Enlarged kidney, Hepatomegaly, Clitoral hypertrophy, Hypokalemia, Long penis, Hypercalciuria, Fac...	ORPHA:508
Short Syndrome	Excessive wrinkled skin, Sparse hair, Alopecia	ORPHA:3163
Splenoportal Vascular Anomalies	Cirrhosis, Anomalous splenoportal venous system, Ascites, Hyperammonemia, Splenomegaly, Hepatic f...	OMIM:271500
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly	Synophrys, Sparse eyebrow, Sparse hair, Curly hair	OMIM:620075
Persistent Hyperplastic Primary Vitreous	Microcornea, Corneal opacity, Persistent pupillary membrane, Remnants of the hyaloid vascular sys...	ORPHA:91495
Lymphoid Interstitial Pneumonia	Enlarged kidney, Hepatomegaly, Mediastinal lymphadenopathy, Keratoconjunctivitis sicca	ORPHA:79128
Congenital Rubella Syndrome	Jaundice, Anemia, Hepatomegaly, Corneal opacity, Abnormality of retinal pigmentation, Thrombocyto...	ORPHA:290
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome	Enlarged kidney, Astigmatism, Chronic neutropenia, Retinal coloboma, Nephroblastoma, Transient ne...	ORPHA:500095
Immunodeficiency 69	Increased circulating ferritin concentration, Anemia, Hemophagocytosis, Pancytopenia, Leukocytosi...	OMIM:618963
Naxos Disease	Nail dystrophy, Diffuse palmoplantar hyperkeratosis, Hyperkeratosis, Woolly hair, Curly hair, Ony...	OMIM:601214
Frontonasal Dysplasia 2	Bilateral cryptorchidism, Hypohidrosis, Sparse eyelashes, Sparse eyebrow, Sparse hair, Alopecia t...	OMIM:613451
Biotinidase Deficiency	Ataxia, Lethargy, Alopecia	OMIM:253260
Immunodeficiency 27A	Anorexia, Anemia, Thrombocytosis, Lymphadenopathy, Leukocytosis, Hepatosplenomegaly, Splenomegaly...	OMIM:209950
Mitochondrial Neurogastrointestinal Encephalomyopathy	Decreased sensory nerve conduction velocity, Peripheral axonal neuropathy, Demyelinating peripher...	ORPHA:298
Ogden Syndrome	Irritability, Enlarged kidney, Jaundice, Macrovesicular hepatic steatosis, Iron deficiency anemia...	OMIM:300855
Lethal Congenital Contracture Syndrome 7	Paralysis	OMIM:616286
Cholestasis-Lymphedema Syndrome	Cirrhosis, Jaundice, Hepatomegaly, Abnormality of the lymphatic system, Hyperlipidemia, Portal hy...	ORPHA:1414
Mu-Heavy Chain Disease	Hepatomegaly, Anemia, Lymphadenopathy, Bence Jones Proteinuria, Splenomegaly, Abnormal B cell cou...	ORPHA:100024
Adams-Oliver Syndrome	Hypertonia, Hypoplastic fingernail, Aplastic/hypoplastic toenail, Absent fingernail, Hemiparesis,...	ORPHA:974
Kaufman Oculocerebrofacial Syndrome	Clitoral hypertrophy, Astigmatism, Microcornea, Sparse eyebrow, Sparse hair, Hypocholesterolemia,...	OMIM:244450
Congenital Myopathy 9A	Tongue fasciculations, Akinesia, Cryptorchidism	OMIM:618822
Anterior Segment Dysgenesis 8	Optic nerve dysplasia, Iris transillumination defect, Microphakia, Iridodonesis, Corneal stromal ...	OMIM:617319
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Enlarged kidney, Hydronephrosis, Urethral atresia	OMIM:314390
Perry Syndrome	Bradykinesia, Akinesia, Tremor, Rigidity, Parkinsonism, Short stepped shuffling gait	OMIM:168605
Fibrodysplasia Ossificans Progressiva	Alopecia	OMIM:135100
Hemochromatosis, Type 1	Testicular atrophy, Alopecia	OMIM:235200
Limb-Mammary Syndrome	Nail dysplasia, Aplasia of the ovary, Breast aplasia, Hypoplastic nipples, Absent nipple, Dry ski...	ORPHA:69085
Short Stature, Microcephaly, And Endocrine Dysfunction	Apraxia, Broad-based gait, Dysdiadochokinesis, Gait disturbance, Hypothyroidism, Ataxia, Sparse h...	OMIM:616541
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome	Breast hypoplasia, Alopecia of scalp, Small pituitary gland, Aplasia of the ovary, Cryptorchidism...	ORPHA:2232
Oculocerebrocutaneous Syndrome	Hemiplegia/hemiparesis, Abnormal fingernail morphology, Cryptorchidism, Alopecia	ORPHA:1647
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss	Jaundice, Hypocalcemia, Elevated circulating gamma-aminobutyric acid concentration, Cholestasis, ...	OMIM:619658
Meacham Syndrome	Blind vagina, Enlarged kidney, Accessory spleen, Bicornuate uterus, Male pseudohermaphroditism, S...	OMIM:608978
Harderoporphyria	Hepatomegaly, Increased urine harderoporphyrin level, Increased urinary porphobilinogen, Red urin...	OMIM:618892
Autosomal Recessive Cutis Laxa Type 2, Classic Type	Redundant neck skin, Excessive wrinkled skin, Thick hair, Spasticity, Redundant skin, Cutis laxa,...	ORPHA:357074
Cholesteryl Ester Storage Disease	Hypertriglyceridemia, Cirrhosis, Hepatomegaly, Anemia, Steatorrhea, Decreased HDL cholesterol con...	OMIM:278000
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome	Abnormal peripheral myelination, Steppage gait, Abnormality of peripheral nerve conduction, Abnor...	ORPHA:168563
Aceruloplasminemia	Limb ataxia, Akinesia, Abnormal pancreas morphology, Torticollis, Chorea, Tremor, Blepharospasm, ...	ORPHA:48818
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Psoriasiform lesion, Alopecia	ORPHA:169154
Cockayne Syndrome A	Optic atrophy, Decreased nerve conduction velocity, Abnormal peripheral myelination, Retinal atro...	OMIM:216400
Variegate Porphyria	Paralysis	OMIM:176200
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome	Decreased testicular size, Sparse body hair	ORPHA:2234
Johanson-Blizzard Syndrome	Exocrine pancreatic insufficiency, Abnormal hair pattern, Alopecia	ORPHA:2315
Spastic Paraplegia-Precocious Puberty Syndrome	Precocious puberty in males, Hyperplasia of the Leydig cells	ORPHA:2826
Sporadic Adult-Onset Ataxia Of Unknown Etiology	Babinski sign, Akinesia, Resting tremor, Dysdiadochokinesis, Spasticity, Shuffling gait, Gait ata...	ORPHA:247234
Scarf Syndrome	Hypoplastic nipples, Low posterior hairline, Cutis laxa, Sparse hair, Cryptorchidism	ORPHA:3134
Apolipoprotein C-Ii Deficiency	Hypertriglyceridemia, Hepatomegaly, Pancreatitis, Increased circulating chylomicron concentration...	OMIM:207750
Bartsocas-Papas Syndrome	Alopecia totalis, Aplasia/Hypoplasia of the eyebrow, Sparse or absent eyelashes, Hypoplastic toen...	ORPHA:1234
Microphthalmia/Coloboma 12	Vesicoureteral reflux, Corneal opacity, Remnants of the hyaloid vascular system, Optic nerve apla...	OMIM:120200
Mandibuloacral Dysplasia With Type A Lipodystrophy	Breast aplasia, Absent eyelashes, Abnormal eyebrow morphology, Lack of skin elasticity, Alopecia	ORPHA:90153
Wagro Syndrome	Hypoplastic female external genitalia, Agitation, Aniridia, Emotional lability, Low frustration t...	OMIM:612469
46,Xx Gonadal Dysgenesis	Abnormality of secondary sexual hair, Sparse pubic hair, Ataxia, Increased circulating gonadotrop...	ORPHA:243
Fish-Eye Disease	Decreased HDL cholesterol concentration, Hepatomegaly, Lymphadenopathy, Corneal opacity, Splenome...	ORPHA:79292
Mitochondrial Dna-Associated Leigh Syndrome	Optic atrophy, Chorea, Demyelinating peripheral neuropathy, Gait ataxia, Ataxia, Rod-cone dystrop...	ORPHA:255210
Bile Acid Synthesis Defect, Congenital, 5	Jaundice, Portal fibrosis, Iron deficiency anemia, Hepatomegaly, Increased serum bile acid concen...	OMIM:616278
Lethal Acantholytic Erosive Disorder	Absent hair, Absent eyelashes, Absent fingernail, Absent eyebrow, Absent toenail, Acantholysis, C...	ORPHA:158687
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome	Small nail, Absent eyelashes, Absent eyebrow, Cryptorchidism, Alopecia	ORPHA:166035
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Enlarged kidney, Polycystic kidney dysplasia, Renal dysplasia, Ambiguous genitalia, Micropenis	OMIM:613091
Borjeson-Forssman-Lehmann Syndrome	Decreased testicular size, Cryptorchidism, Thick eyebrow, Sparse hair	ORPHA:127
Vitreoretinal Degeneration, Snowflake Type	Retinal detachment, Retinal dots, Corneal guttata, Optically empty vitreous, Cataract, Snowflake ...	OMIM:193230
Oculoskeletodental Syndrome	Hepatomegaly, Hypercalciuria, Hypocalcemia, Low posterior hairline, Mucopolysacchariduria, Renal ...	OMIM:618440
Primary Angiitis Of The Central Nervous System	Paraparesis, Hemiparesis, Ataxia, Parkinsonism, Paralysis, Tetraparesis	ORPHA:140989
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Hypochromic microcytic anemia, HbS hemoglobin, Splenic infarction, Persistence of hemoglobin F, R...	ORPHA:251380
Neuraminidase Deficiency	Hepatomegaly, Cardiomegaly, Vacuolated lymphocytes, Bone-marrow foam cells, Ascites, Urinary excr...	OMIM:256550
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Hypothyroidism, Alopecia	OMIM:304790
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2	Sparse hair, Hyperconvex nail	OMIM:619721
Gaucher Disease Type 1	Decreased HDL cholesterol concentration, Ascites, Leukopenia, Splenomegaly, Anorexia, Pinguecula,...	ORPHA:77259
Anemia, Hypochromic Microcytic, With Iron Overload 2	Hepatomegaly, Anemia, Azoospermia, Hypochromia, Poikilocytosis, Sideroblastic anemia, Elevated he...	OMIM:615234
Cardiofaciocutaneous Syndrome	Dystrophic fingernails, Excessive wrinkled skin, Sparse or absent eyelashes, Brittle hair, Slow-g...	ORPHA:1340
Intellectual Developmental Disorder, Autosomal Dominant 66	Sparse hair	OMIM:619910
Papillon-Lefèvre Syndrome	Nail dystrophy, Abnormality of the nail, Abnormal fingernail morphology, Sparse body hair, Genera...	ORPHA:678
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Cirrhosis, Jaundice, Anemia, Hepatomegaly, Hypochromia, Elevated hepatic iron concentration, Anis...	OMIM:616860
Erythroleukemia, Familial, Susceptibility To	Hepatomegaly, Anemia, Acute myeloid leukemia, Thrombocytopenia, Splenomegaly, Erythroid hyperplas...	OMIM:133180
Molybdenum Cofactor Deficiency, Complementation Group B	Gliosis, Peripheral demyelination, Axonal loss	OMIM:252160
Glutaric Acidemia I	Delayed myelination, Symmetrical progressive peripheral demyelination, Choreoathetosis	OMIM:231670
Neutral Lipid Storage Disease With Ichthyosis	Difficulty walking, Ataxia, Alopecia	ORPHA:98907
Microcephaly, Developmental Delay, And Brittle Hair Syndrome	Broad-based gait, Brittle hair, Poor coordination, Dysdiadochokinesis, Sparse hair, Ankle clonus,...	OMIM:618891
Trichorhinophalangeal Syndrome Type 1	Leukonychia, Sparse eyelashes, Sparse eyebrow, Fragile nails, Sparse hair	ORPHA:77258
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease	Alopecia, Macronodular adrenal hyperplasia, Hirsutism, Primary hyperparathyroidism, Pituitary ade...	ORPHA:189427
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hypertriglyceridemia, Irritability, Decreased HDL cholesterol concentration, Hepatomegaly, Jaundi...	OMIM:267700
Adiposis Dolorosa	Dry skin, Hypothyroidism, Sparse pubic hair, Sparse axillary hair, Xerostomia	ORPHA:36397
Snakebite Envenomation	Paralysis, Respiratory paralysis, Ecchymosis, Hypopituitarism, Erythema, Pseudobulbar paralysis	ORPHA:449285
Porphyria Due To Ala Dehydratase Deficiency	Agitation, Increased erythrocyte protoporphyrin concentration, Abnormal fear-induced behavior, In...	ORPHA:100924
Molybdenum Cofactor Deficiency, Complementation Group A	Gliosis, Peripheral demyelination, Axonal loss	OMIM:252150
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Tip-toe gait, Broad-based gait, Falls, Short attention span, Diminished ability to concentrate, C...	OMIM:619475
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Sparse hair	OMIM:614105
X-Linked Adrenoleukodystrophy	Paralysis, Incoordination, Gait disturbance, Paraparesis, Hemiparesis, Progressive spastic parapa...	ORPHA:43
Micro Syndrome	Optic atrophy, Hypoplasia of penis, Microcornea, Hypoplastic labia minora, Retinal coloboma, Clit...	ORPHA:2510
49,Xxxyy Syndrome	External genital hypoplasia, Low frustration tolerance, Abnormality of the testis size, Decreased...	ORPHA:261534
Cardiac-Urogenital Syndrome	Enlarged kidney, Penoscrotal hypospadias, Accessory spleen, Aplasia of the uterus, Bifid scrotum,...	OMIM:618280
Leigh Syndrome	Hyperkinetic movements, Abnormality of extrapyramidal motor function, Chorea, Spasticity, Athetos...	ORPHA:506
Walker-Warburg Syndrome	Optic atrophy, Retinal dysplasia, Retinal dystrophy, Retinal detachment, Hypoplasia of penis, Mic...	ORPHA:899
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Scaling skin, Thyroiditis, Patchy alopecia, Hypothyroidism, Alopecia universalis	OMIM:606367
Fetal Cytomegalovirus Syndrome	Optic atrophy, Jaundice, Anemia, Hepatomegaly, Chorioretinitis, Retinal hemorrhage, Thrombocytope...	ORPHA:294
Biotinidase Deficiency	Spastic paraparesis, Ataxia, Lethargy, Alopecia	ORPHA:79241
Chromosome 5P13 Duplication Syndrome	Low posterior hairline, Sparse hair	OMIM:613174
Beta-Thalassemia, Dominant Inclusion Body Type	Hepatomegaly, Decreased mean corpuscular hemoglobin concentration, Persistence of hemoglobin F, E...	OMIM:603902
Mandibuloacral Dysplasia	Hypoplastic fingernail, Sparse hair, Alopecia	ORPHA:2457
Chromosome 19Q13.11 Deletion Syndrome, Distal	Nail dysplasia, Dry skin, Sparse eyelashes, Sparse eyebrow, Sparse hair, Cryptorchidism	OMIM:613026
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Hypertriglyceridemia, Abnormal circulating lipid concentration, Decreased HDL cholesterol concent...	ORPHA:247598
Gapo Syndrome	Nail dysplasia, Breast hypoplasia, Redundant skin, Hypoplastic nipples, Sparse eyelashes, Sparse ...	OMIM:230740
Oligodontia-Colorectal Cancer Syndrome	Sparse scalp hair, Absent eyebrow, Sparse body hair, Short eyelashes, Sparse axillary hair	OMIM:608615
Chondrodysplasia Punctata, Autosomal Dominant	Coarse hair, Hyperkeratosis with erythema, Sparse hair	OMIM:118650
Epidermolysis Bullosa Dystrophica, Autosomal Recessive	Nail dysplasia, Nail dystrophy, Alopecia	OMIM:226600
Cahmr Syndrome	Generalized hypertrichosis	OMIM:211770
Kid Syndrome	Scaling skin, Trichilemmoma, Nail dystrophy, Follicular hyperkeratosis, Scarring alopecia of scal...	ORPHA:477
Mandibuloacral Dysplasia With Type B Lipodystrophy	Alopecia, Sparse hair, Brittle hair	OMIM:608612
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige	Palmoplantar keratoderma, Acantholysis, Orthokeratosis, Sparse hair	OMIM:615508
Celiac Disease, Susceptibility To, 1	Thyroiditis, Ataxia, Alopecia	OMIM:212750
Multiple Sulfatase Deficiency	Optic atrophy, Hepatomegaly, Corneal opacity, Mucopolysacchariduria, Abnormality of retinal pigme...	ORPHA:585
Vitamin D-Dependent Rickets, Type 2A	Secondary hyperparathyroidism, Alopecia universalis, Difficulty walking	OMIM:277440
Carney Complex	Ductal carcinoma in situ, Neoplasm of the pancreas, Pituitary growth hormone cell adenoma, Ovaria...	ORPHA:1359
Progeria-Short Stature-Pigmented Nevi Syndrome	Neoplasm of the pancreas, Broad-based gait, Low posterior hairline, Alopecia	ORPHA:2959
Mogs-Cdg	Hirsutism, Long eyelashes, Hypothyroidism, Hydrocele testis, Fair hair, Alopecia	ORPHA:79330
Garg-Mishra Progeroid Syndrome	Sparse hair, Small nail	OMIM:620601
Kallmann Syndrome With Spastic Paraplegia	Spastic paraplegia, Sparse pubic hair, Ataxia, Cryptorchidism, Testicular atrophy	OMIM:308750
Congenital Bile Acid Synthesis Defect Type 4	Cholestatic liver disease, Giant cell hepatitis, Cholelithiasis, Depression, Elevated circulating...	ORPHA:79095
Scarf Syndrome	Hypoplastic nipples, Low posterior hairline, Cutis laxa, Low anterior hairline, Sparse hair, Cryp...	OMIM:312830
Cystic Echinococcosis	Cholestatic liver disease, Jaundice, Hepatomegaly, Splenic cyst, Abnormal peritoneum morphology, ...	ORPHA:400
Norrie Disease	Optic atrophy, Buphthalmos, Aggressive behavior, Retinal dysplasia, Retinal detachment, Corneal o...	OMIM:310600
Sting-Associated Vasculopathy, Infantile-Onset	Nail dystrophy, Periungual erythema, Nailfold capillary tortuosity, Sparse hair, Erythema	OMIM:615934
Autosomal Dominant Hypocalcemia	Cortical myoclonus, Abnormality of the nail, Dry skin, Abnormal fingernail morphology, Alopecia	ORPHA:428
Fatty Acid Hydroxylase-Associated Neurodegeneration	Optic atrophy, Falls, Cerebellar vermis atrophy, Cerebellar atrophy, Loss of ambulation, Progress...	ORPHA:329308
Marshall Syndrome	Hypohidrosis, Sparse eyelashes, Sparse eyebrow, Sparse hair	ORPHA:560
49,Xyyyy Syndrome	External genital hypoplasia, Azoospermia, Low frustration tolerance, Abnormality of the testis si...	ORPHA:99330
Congenital Disorder Of Glycosylation, Type Iia	Hypertonia, Hirsutism, Long eyelashes, Unsteady gait, Thick eyebrow, Sparse hair	OMIM:212066
Ruijs-Aalfs Syndrome	Premature graying of hair, Sparse hair	OMIM:616200
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Iris coloboma, Microcornea, Corneal opacity, Retinal nonattachment, Persistent pupillary membrane...	OMIM:221900
Acrodermatitis Enteropathica, Zinc-Deficiency Type	Irritability, Alopecia of scalp, Hepatomegaly, Emotional lability, Decreased testicular size, Spl...	OMIM:201100
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Hepatomegaly, Abnormal fallopian tube morphology, Hypocalcemia, Abnormal renal morphology, Pancre...	ORPHA:1655
X-Linked Dominant Chondrodysplasia Punctata	Scaling skin, Scarring alopecia of scalp, Abnormality of the nail, Patchy alopecia, Sparse eyelas...	ORPHA:35173
Bainbridge-Ropers Syndrome	Hypertonia, Inability to walk, Highly arched eyebrow, Hirsutism, Synophrys, Long eyelashes, Thick...	OMIM:615485
Xeroderma Pigmentosum	Abnormality of extrapyramidal motor function, Spasticity, Hyperkeratosis, Dry skin, Decreased tes...	ORPHA:910
Mucopolysaccharidosis, Type Iiib	Coarse hair, Hepatomegaly, Hyperactivity, Hirsutism, Synophrys, Splenomegaly, Cardiomegaly, Hepar...	OMIM:252920
Cardiofaciocutaneous Syndrome 1	Hypertonia, Oculomotor apraxia, Slow-growing hair, Absent eyelashes, Hyperkeratosis, Low posterio...	OMIM:115150
Exfoliation Syndrome	Mydriasis, Phakodonesis, Pseudoexfoliation, Iris hypoperfusion, Anisocoria, Pigment deposition in...	OMIM:177650
Encephalocraniocutaneous Lipomatosis	Hypertonia, Abnormal eyelash morphology, Tetraplegia, Spasticity, Rigidity, Hemiparesis, Paralysi...	ORPHA:2396
Cranioectodermal Dysplasia 3	Broad nail, Dry skin, Cutis laxa, Short nail, Sparse hair, Fine hair	OMIM:614099
Familial Cervical Artery Dissection	Paralysis, Striae distensae	ORPHA:36382
Chromosome Xp11.3 Deletion Syndrome	Optic atrophy, Posterior subcapsular cataract, Attenuation of retinal blood vessels, Cataract, Cr...	OMIM:300578
Oculodentodigital Dysplasia	Brittle hair, Abnormality of the nail, Slow-growing hair, Spasticity, Gait disturbance, Curly hai...	ORPHA:2710
Mixed Connective Tissue Disease	Purpura, Xerostomia, Alopecia	ORPHA:809
Anemia, Congenital Dyserythropoietic, Type Iv	Anemia of inadequate production, Reticulocytosis, Unconjugated hyperbilirubinemia, Circulating nu...	OMIM:613673
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome	Nail dystrophy, Decreased response to growth hormone stimulation test, Abnormality of the periung...	ORPHA:293978
Mucopolysaccharidosis, Type Iiic	Coarse hair, Hepatomegaly, Hyperactivity, Hirsutism, Synophrys, Splenomegaly, Dysphagia, Hypertri...	OMIM:252930
Autoimmune Polyendocrine Syndrome, Type Ii	Hypothyroidism, Primary adrenal insufficiency, Exocrine pancreatic insufficiency, Hyperthyroidism...	OMIM:269200
Gapo Syndrome	Sparse eyelashes, Sparse eyebrow, Early balding, Alopecia	ORPHA:2067
Dyskeratosis Congenita, Digenic	Sparse eyelashes, Nail dystrophy, Decreased testicular size, Alopecia	OMIM:620040
Nestor-Guillermo Progeria Syndrome	Nail dystrophy, Sparse scalp hair, Dry skin, Sparse eyelashes, Sparse eyebrow, Alopecia	OMIM:614008
Peroxisome Biogenesis Disorder 5A (Zellweger)	Clitoral hypertrophy, Cholestasis, Renal cortical microcysts, Splenomegaly, Optic nerve dysplasia...	OMIM:614866
Hallermann-Streiff Syndrome	Abnormality of hair texture, Sparse eyelashes, Hypothyroidism, Sparse body hair, Sparse eyebrow, ...	ORPHA:2108
Mitochondrial Complex Iv Deficiency, Nuclear Type 5	Cerebellar vermis hypoplasia, Truncal ataxia, Gliosis, CNS demyelination, Peripheral demyelinatio...	OMIM:220111
Monosomy 22	Hypertonia, Synophrys, Hyperhidrosis, Sparse hair, Aplasia of the thymus	ORPHA:96123
Alpha-Mannosidosis, Adult Form	Pancytopenia, Depression, Corneal opacity, Hepatosplenomegaly, Cataract, Oligosacchariduria, Opti...	ORPHA:309288
Orofaciodigital Syndrome Type 1	Brittle hair, Tremor, Dry skin, Exocrine pancreatic insufficiency, Ataxia, Sparse hair, Pancreati...	ORPHA:2750
Proteus-Like Syndrome	Retinal detachment, Heterochromia iridis, Abnormal pupil morphology, Splenomegaly, Cataract, Limb...	ORPHA:2969
Hepatoportal Sclerosis	Abnormal liver parenchyma morphology, Jaundice, Anemia, Periportal fibrosis, Hyperbilirubinemia, ...	ORPHA:64743
Hereditary Sensory And Autonomic Neuropathy Type 5	Pain insensitivity, Decreased number of small peripheral myelinated nerve fibers, Impaired temper...	ORPHA:64752
Weaver Syndrome	Hypertonia, Thin nail, Spasticity, Poor fine motor coordination, Deep-set nails, Cutis laxa, Spar...	OMIM:277590
Hyperlipoproteinemia, Type Id	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hepatomegaly, Pancreatitis, Increa...	OMIM:615947
Bone Marrow Failure Syndrome 3	Nail dystrophy, Hyperechogenic pancreas, Small nail, Hyperkeratosis, Exocrine pancreatic insuffic...	OMIM:617052
Intellectual Developmental Disorder, X-Linked, Syndromic 33	Toenail dysplasia, Gait imbalance, Spasticity, Hirsutism, Tremor, Gait disturbance, Synophrys, At...	OMIM:300966
Cystinosis, Nephropathic	Recurrent corneal erosions, Polydipsia, Generalized aminoaciduria, Retinopathy, Renal Fanconi syn...	OMIM:219800
Hyperlipoproteinemia, Type I	Lactescent serum, Jaundice, Increased circulating chylomicron concentration, Acute pancreatitis, ...	OMIM:238600
Caroli Disease	Anorexia, Cirrhosis, Intrahepatic cholestasis, Jaundice, Cholangitis, Cholelithiasis, Hepatomegal...	ORPHA:53035
Intermediate Uveitis	Cystoid macular edema, Optic neuritis, Vitreous floaters, Vitreous snowballs, Band keratopathy, V...	ORPHA:279914
Cholestasis, Progressive Familial Intrahepatic, 3	Cirrhosis, Jaundice, Intrahepatic cholestasis, Portal fibrosis, Hepatomegaly, Increased serum bil...	OMIM:602347
Adult Syndrome	Breast hypoplasia, Alopecia of scalp, Hypoplastic nipples, Sparse scalp hair, Absent nipple, Dry ...	OMIM:103285
Dyskeratosis Congenita, X-Linked	Premature graying of hair, Nail dystrophy, Ridged nail, Sparse eyelashes, Decreased testicular si...	OMIM:305000
Aredyld Syndrome	Sparse body hair, Aplasia/Hypoplasia of the eyebrow	ORPHA:1133
Woodhouse-Sakati Syndrome	Abnormality of extrapyramidal motor function, Decreased testicular size, Sparse hair, Fine hair, ...	OMIM:241080
Bardet-Biedl Syndrome 1	Abnormality of the kidney, Bone spicule pigmentation of the retina, Astigmatism, Retinal dystroph...	OMIM:209900
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type	Babinski sign, Cholelithiasis, Spasticity, Shuffling gait, Patchy alopecia, Decreased testicular ...	OMIM:300534
Mandibuloacral Dysplasia With Type B Lipodystrophy	Alopecia, Nail dystrophy, Abnormal hair morphology	ORPHA:90154
Wilson Disease	Cirrhosis, Jaundice, Hepatomegaly, Anemia, Acute hepatitis, Kayser-Fleischer ring, Depression, He...	ORPHA:905
Rothmund-Thomson Syndrome, Type 2	Premature graying of hair, Nail dystrophy, Annular pancreas, Absent eyelashes, Sparse scalp hair,...	OMIM:268400
Oculodentodigital Dysplasia	Slow-growing hair, Spasticity, Paraparesis, Fragile nails, Ataxia, Sparse hair, Fine hair, Tetrap...	OMIM:164200
De Barsy Syndrome	Dermal translucency, Progressive cerebellar ataxia, Excessive wrinkled skin, Athetosis, Cutis lax...	ORPHA:2962
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness	Hypothyroidism, Hypertonia, Akinesia, Spastic tetraplegia	OMIM:619147
Cartilage-Hair Hypoplasia	Sparse eyelashes, Sparse eyebrow, Sparse hair, Sparse facial hair, Fine hair, Fair hair	OMIM:250250
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects	Parakeratosis, Small nail, Hyperkeratosis, Thyroid hypoplasia, Orthokeratosis, Erythema, Alopecia	OMIM:308050
Hawkinsinuria	Sparse hair	OMIM:140350
Pediatric Systemic Lupus Erythematosus	Hemiplegia, Alopecia	ORPHA:93552
Glycogen Storage Disease Of Heart, Lethal Congenital	Cataract, Enlarged kidney, Cardiomegaly, Ascites	OMIM:261740
Pyruvate Kinase Deficiency Of Red Cells	Chronic hemolytic anemia, Jaundice, Reduced red cell pyruvate kinase level, Cholelithiasis, Hepat...	OMIM:266200
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy	Retinal dystrophy, Retinal detachment, Corneal scarring, Chorioretinal coloboma, Cataract, Buphth...	OMIM:212550
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	Optic atrophy, Calcinosis, Hypokalemia, Hypocalcemia, Renal artery stenosis, Renal hypoplasia, Hy...	OMIM:617913
Schimmelpenning-Feuerstein-Mims Syndrome	Alopecia	OMIM:163200
Woodhouse-Sakati Syndrome	Scaling skin, Decreased response to growth hormone stimulation test, Streak ovary, Hypothyroidism...	ORPHA:3464
Heterotaxy, Visceral, 1, X-Linked	Enlarged kidney, Hepatomegaly, Biliary atresia, Polysplenia, Asplenia, Renal agenesis, Cardiomega...	OMIM:306955
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2	Cutis laxa, Dermal translucency, Sparse hair	OMIM:615349
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Normocytic anemia, Jaundice, Normochromic anemia, Cholelithiasis, Hyperbilirubinemia, Nonspherocy...	OMIM:235700
Parkinson Disease 23, Autosomal Recessive Early-Onset	Akinesia, Resting tremor, Spasticity, Rigidity, Parkinsonism, Abnormal pyramidal sign	OMIM:616840
Nicolaides-Baraitser Syndrome	Excessive wrinkled skin, Premature skin wrinkling, Periorbital wrinkles, Sparse scalp hair, Low p...	OMIM:601358
Immunodeficiency 97 With Autoinflammation	Autoimmune hemolytic anemia, Hypertriglyceridemia, Increased circulating ferritin concentration, ...	OMIM:619802
Charcot-Marie-Tooth Disease Type 4B2	Optic atrophy, Decreased distal sensory nerve action potential, Tip-toe gait, Difficulty walking,...	ORPHA:99956
Scalp-Ear-Nipple Syndrome	Nail dysplasia, Breast aplasia, Patchy alopecia, Dry skin, Hypohidrosis, Sparse pubic hair, Spars...	OMIM:181270
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly	Nail dysplasia, Fine hair, Sparse hair, Aplasia/Hypoplasia of the eyebrow	OMIM:614091
Ornithine Transcarbamylase Deficiency	Aminoaciduria, Splenomegaly, Hyperammonemia	ORPHA:664
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis	Nail dysplasia, Breast hypoplasia, Small nail, Waddling gait, Sparse hair	OMIM:614813
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis	Hypothyroidism, Hashimoto thyroiditis, Paralysis, Goiter	ORPHA:83601
Chops Syndrome	Optic atrophy, Thick hair, Vesicoureteral reflux, Curly hair, Long eyelashes, Synophrys, Thick ey...	OMIM:616368
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement	Hypertonia, Lower limb spasticity, Broad-based gait, Decreased testicular size, Sparse hair, Fine...	ORPHA:251028
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Jaundice, Hepatomegaly, Cholelithiasis, Increased mean corpuscular hemoglobin concentration, Conj...	OMIM:194380
Autosomal Dominant Keratitis	Corneal neovascularization, Aniridia, Limbal stem cell deficiency, Microcornea, Abnormal corneal ...	ORPHA:2334
Retinitis Pigmentosa With Or Without Skeletal Anomalies	High anterior hairline, Small nail, Sparse eyelashes, Sparse eyebrow, Sparse hair	OMIM:250410
Bardet-Biedl Syndrome 20	Astigmatism, Pancreatitis, Hypercholesterolemia, Bilateral cryptorchidism, Papilledema, Proteinur...	OMIM:619471
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency	Hirsutism, Decreased circulating cortisol level, Polycystic ovaries, Testicular adrenal rest tumo...	ORPHA:90795
Systemic Sclerosis	Nail bed telangiectasia, Acral ulceration, Hypohidrosis, Digital ulcer, Alopecia	ORPHA:90291
Sitosterolemia 1	Corneal arcus, Xanthelasma, Chronic hemolytic anemia, Giant platelets, Anemia, Reduced haptoglobi...	OMIM:210250
Beta-Thalassemia Intermedia	Cirrhosis, Jaundice, Hepatomegaly, Hypoparathyroidism, Cholelithiasis, Abnormality of iron homeos...	ORPHA:231222
Glass Syndrome	Nail dysplasia, Broad-based gait, Sparse hair, Long eyelashes	OMIM:612313
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form	Nail dystrophy, Alopecia, Palmoplantar keratoderma, Erythema, Onychogryposis	ORPHA:79396
Transketolase Deficiency	Hepatomegaly, Increased level of ribose in urine, Elevated circulating ribitol concentration, Com...	ORPHA:488618
Hemophagocytic Lymphohistiocytosis, Familial, 2	Hypertriglyceridemia, Irritability, Jaundice, Hepatomegaly, Hemophagocytosis, Anemia, Pancytopeni...	OMIM:603553
Dpagt1-Cdg	Hypertonia, Akinesia, Inability to walk, Tremor, Ataxia, Hypertrichosis	ORPHA:86309
Spinocerebellar Ataxia Type 3	Progressive cerebellar ataxia, Abnormality of extrapyramidal motor function, Vocal cord paralysis...	ORPHA:98757
Scalp-Ear-Nipple Syndrome	Hypohidrosis, Abnormal fingernail morphology, Sparse hair, Breast aplasia	ORPHA:2036
Ifap Syndrome 1, With Or Without Bresheck Syndrome	Nail dysplasia, Scaling skin, Nail dystrophy, Dystrophic fingernails, Follicular hyperkeratosis, ...	OMIM:308205
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Hepatomegaly, Hypocalcemia, Pancreatic lymphangiectasis, Hypoproteinemia, Ascites, Hydronephrosis...	OMIM:235255
Blindness-Scoliosis-Arachnodactyly Syndrome	Microphakia, Retinal detachment, Abnormality of retinal pigmentation, Cataract, Lens subluxation	ORPHA:171844
Oculoauricular Syndrome	Microphakia, Ocular anterior segment dysgenesis, Posterior synechiae of the anterior chamber, Ret...	OMIM:612109
Ablepharon Macrostomia Syndrome	Breast hypoplasia, Excessive wrinkled skin, Absent eyelashes, Redundant skin, Dry skin, Absent ey...	ORPHA:920
Anemia, Congenital Dyserythropoietic, Type Ii	Jaundice, Cholelithiasis, Anemia of inadequate production, Reticulocytosis, Splenomegaly	OMIM:224100
Gaucher Disease, Perinatal Lethal	Purpura, Akinesia, Petechiae, Hyperkeratosis, Opisthotonus	OMIM:608013
Osteogenesis Imperfecta, Type Xx	Highly arched eyebrow, Sparse lateral eyebrow, Sparse hair	OMIM:618644
Encephalocraniocutaneous Lipomatosis	Cryptorchidism, Alopecia	OMIM:613001
Omenn Syndrome	Hypoplasia of the thymus, Alopecia	OMIM:603554
Sickle Cell Disease	Jaundice, Hepatomegaly, Hematuria, Cholelithiasis, Leukocytosis, Splenic infarction, Retinopathy,...	OMIM:603903
Immunodeficiency 7	Patchy alopecia	OMIM:615387
Distal Deletion 19P	Thick eyebrow, Alopecia	ORPHA:96129
Ectopia Lentis Et Pupillae	Iris transillumination defect, Retinal detachment, Persistent pupillary membrane, Ectopia lentis,...	OMIM:225200
Microphthalmia, Syndromic 5	Retinal dystrophy, Optic nerve hypoplasia, Microcornea, Cataract, Cryptorchidism, Micropenis, Ect...	OMIM:610125
Lymphedema-Hypoparathyroidism Syndrome	Hypoparathyroidism, Renal insufficiency, Pulmonary lymphangiectasia, Cataract, Nephropathy, Hyper...	OMIM:247410
Phakomatosis Pigmentokeratotica	Pheochromocytoma, Patchy alopecia, Hemiparesis, Hyperhidrosis, Cryptorchidism	ORPHA:2874
Hereditary Late-Onset Parkinson Disease	Bradykinesia, Akinesia, Resting tremor, Parkinsonism with favorable response to dopaminergic medi...	ORPHA:411602
Juvenile Dermatomyositis	Skin ulcer, Dry skin, Erythema, Alopecia	ORPHA:93672
Hallermann-Streiff Syndrome	Sparse scalp hair, Dry skin, Cryptorchidism, Sparse eyelashes, Sparse eyebrow, Sparse hair, Fine ...	OMIM:234100
Mitochondrial Complex I Deficiency, Nuclear Type 28	Akinesia, Lower limb spasticity, Truncal ataxia, Abnormal pyramidal sign, Choreoathetosis	OMIM:618249
Basel-Vanagaite-Smirin-Yosef Syndrome	Spasticity, Sparse hair	OMIM:616449
Alagille Syndrome 1	Hypertriglyceridemia, Cholestasis, Prolonged neonatal jaundice, Stage 5 chronic kidney disease, R...	OMIM:118450
ERI1-related disease	Anonychia, Low anterior hairline, Sparse hair	OMIM:608739
Hamamy Syndrome	Abnormal number of hair whorls, Hypoparathyroidism, Low posterior hairline, Sparse eyelashes, Spa...	OMIM:611174
Ectodermal Dysplasia And Immunodeficiency 1	Aplasia of the eccrine sweat glands, Sparse hair	OMIM:300291
Osteopetrosis, Autosomal Recessive 4	Optic atrophy, Hepatomegaly, Anemia, Reticulocytosis, Thrombocytopenia, Splenomegaly, Optic disc ...	OMIM:611490
Knobloch Syndrome	Abnormal vitreous humor morphology, Abnormal hair morphology, Retinal detachment, Macular degener...	ORPHA:1571
Cockayne Syndrome B	Optic atrophy, Decreased nerve conduction velocity, Cerebellar calcifications, Abnormal periphera...	OMIM:133540
Nablus Mask-Like Facial Syndrome	Highly arched eyebrow, Absent eyelashes, Hypoplastic nipples, Sparse eyelashes, Sparse eyebrow, L...	OMIM:608156
Dehydrated Hereditary Stomatocytosis	Macrocytic anemia, Cholelithiasis, Increased mean corpuscular hemoglobin concentration, Increased...	ORPHA:3202
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome	Sparse body hair	ORPHA:3068
Hypokalemic Periodic Paralysis	Paralysis, Periodic hypokalemic paresis, Respiratory paralysis	ORPHA:681
Thyrotoxic Periodic Paralysis, Susceptibility To, 2	Increased circulating T4 concentration, Tremor, Periodic paralysis, Hyperthyroidism, Goiter, Incr...	OMIM:613239
Neuromuscular Oculoauditory Syndrome	Peripheral hypomyelination, Decreased nerve conduction velocity, Sensory axonal neuropathy, Decre...	OMIM:618733
Amyotrophic Lateral Sclerosis	Babinski sign, Fasciculations, Spasticity, Motor neuron atrophy, Paralysis, Amyotrophic lateral s...	ORPHA:803
Alport Syndrome 2, Autosomal Recessive	Hematuria, Corneal erosion, Renal insufficiency, Nephrotic syndrome, Thickened glomerular basemen...	OMIM:203780
Lmna-Related Cardiocutaneous Progeria Syndrome	Premature graying of hair, Premature skin wrinkling, Absent eyelashes, Absent eyebrow, Sparse hai...	ORPHA:363618
Dehydrated Hereditary Stomatocytosis 2	Anisopoikilocytosis, Jaundice, Hepatomegaly, Increased mean corpuscular hemoglobin concentration,...	OMIM:616689
Glycogen Storage Disease Ixc	Hypertriglyceridemia, Cirrhosis, Hepatomegaly, Increased hepatic glycogen content, Bile duct prol...	OMIM:613027
Morning Glory Disc Anomaly	Retinal detachment, Cataract, Abnormality of retinal pigmentation, Optic disc coloboma	ORPHA:35737
Norrie Disease	Optic atrophy, Abnormal chorioretinal morphology, Irritability, Abnormal vitreous humor morpholog...	ORPHA:649
Machado-Joseph Disease Type 3	Babinski sign, Progressive cerebellar ataxia, Facial-lingual fasciculations, Abnormality of extra...	ORPHA:276244
Neuropathy, Hereditary Sensory And Autonomic, Type Iia	Painless fractures due to injury, Decreased sensory nerve conduction velocity, Decreased nerve co...	OMIM:201300
Chondrodysplasia Punctata 2, X-Linked Dominant	Sparse eyelashes, Sparse eyebrow, Patchy alopecia, Sparse hair	OMIM:302960
Cerebral Cavernous Malformations 3	Paralysis	OMIM:603285
Aspartylglucosaminuria	Hepatomegaly, Vacuolated lymphocytes, Cataract, Aspartylglucosaminuria, Macroorchidism, Neutropenia	OMIM:208400
Mitochondrial Complex Iii Deficiency, Nuclear Type 10	Alopecia totalis, Cholelithiasis	OMIM:618775
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Hypoplastic fingernail, Abnormal hair morphology, Hyperconvex fingernails, Abnormality of the nai...	ORPHA:2273
Simpson-Golabi-Behmel Syndrome, Type 1	Enlarged kidney, Hepatomegaly, Hypospadias, Renal cyst, Cryptorchidism, Nephroblastoma, Short nai...	OMIM:312870
8P11.2 Deletion Syndrome	Retinal dystrophy, Hypoplasia of penis, Azoospermia, Microcornea, Spherocytosis, Splenomegaly, Hy...	ORPHA:251066
Fetal Akinesia Deformation Sequence	Akinesia, Cryptorchidism	ORPHA:994
Lymphoproliferative Syndrome 1	Autoimmune hemolytic anemia, Hepatomegaly, Anemia, Hemophagocytosis, Lymphadenopathy, Pancytopeni...	OMIM:613011
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Hypertriglyceridemia, Hepatocellular adenoma, Cirrhosis, Portal fibrosis, Hepatomegaly, Anemia, R...	ORPHA:264580
Cholestasis, Progressive Familial Intrahepatic, 1	Cirrhosis, Jaundice, Hepatomegaly, Cholelithiasis, Intrahepatic cholestasis with episodic jaundic...	OMIM:211600
Oculodentodigital Dysplasia, Autosomal Recessive	Sparse eyelashes, Fine hair, Sparse hair	OMIM:257850
Pmp22-Rai1 Contiguous Gene Duplication Syndrome	Decreased nerve conduction velocity, Distal sensory impairment, Decreased number of peripheral my...	ORPHA:477817
Meckel Syndrome	Optic atrophy, Abnormal chorioretinal morphology, Ureteral duplication, Multicystic kidney dyspla...	ORPHA:564
Fuchs Heterochromic Iridocyclitis	Anterior chamber inflammatory cells, Vitreous floaters, Chorioretinal scar, Iris atrophy, Heteroc...	ORPHA:263479
Secondary Intestinal Lymphangiectasia	Cirrhosis, Decreased circulating prealbumin concentration, Chylous ascites, Secondary hyperaldost...	ORPHA:90363
Pearson Syndrome	Steatorrhea, Reticulocytosis, Bone marrow hypocellularity, Splenomegaly, Hypophosphatemia, Dyspha...	ORPHA:699
Macrophage Activation Syndrome	Hypertriglyceridemia, Hepatomegaly, Anemia, Hemophagocytosis, Abnormal natural killer cell count,...	ORPHA:158061
Rothmund-Thomson Syndrome Type 1	Nail dysplasia, Facial erythema, Sparse or absent eyelashes, Hypothyroidism, Sparse hair, Aplasia...	ORPHA:221008
Arthrogryposis Multiplex Congenita 6	Akinesia	OMIM:619334
Onychotrichodysplasia And Neutropenia	Trichorrhexis nodosa, Hypoplastic fingernail, Curly eyelashes, Curly hair, Short eyelashes, Spars...	OMIM:258360
Goldberg-Shprintzen Syndrome	Limb hypertonia, Highly arched eyebrow, Synophrys, Thick eyebrow, Sparse hair	OMIM:609460
Amyloidosis, Finnish Type	Optic neuropathy, Lattice corneal dystrophy, Nephrotic syndrome, Urolithiasis, Renal glomerular a...	OMIM:105120
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2	High anterior hairline, Dermal translucency, Highly arched eyebrow, Slow-growing hair, Low poster...	OMIM:617506
Werner Syndrome	Hypertriglyceridemia, Alopecia of scalp, Elevated hemoglobin A1c, Hypogonadism, Cataract, Retinal...	OMIM:277700
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Retinal dysplasia, Retinal detachment, Optic nerve hypoplasia, Elevated circulating creatine kina...	OMIM:614643
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Hypertriglyceridemia, Hepatocellular adenoma, Cirrhosis, Hepatomegaly, Anemia, Renal tubular acid...	ORPHA:79240
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction	Optic atrophy, Bone spicule pigmentation of the retina, Glycosuria, Cataract, Stage 5 chronic kid...	OMIM:268315
Aniridia 2	Optic atrophy, Aniridia, Cataract, Lens subluxation, Iris coloboma	OMIM:617141
African Trypanosomiasis	Akinesia, Difficulty walking, Fasciculations, Tremor, Abnormal prolactin level, Gait disturbance,...	ORPHA:3385
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1	Nail dysplasia, Decreased response to growth hormone stimulation test, Absence of Stensen duct, X...	OMIM:129900
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Genital ulcers, Hepatomegaly, Alopecia of scalp, Aplasia of the thymus, B lymphocytopenia, Eosino...	OMIM:602450
Non-Functioning Paraganglioma	Pallor, Tremor, Episodic hyperhidrosis, Vocal cord paralysis	ORPHA:94080
Sclerosing Cholangitis, Neonatal	Cirrhosis, Jaundice, Portal fibrosis, Hepatomegaly, Sclerosing cholangitis, Acholic stools, Vesic...	OMIM:617394
Reese Retinal Dysplasia	Remnants of the hyaloid vascular system, Retinal dysplasia	OMIM:266400
Craniolenticulosutural Dysplasia	Coarse hair, Sparse hair, Brittle hair	ORPHA:50814
Autoimmune Hepatitis	Cirrhosis, Jaundice, Sclerosing cholangitis, Acute hepatitis, Depression, Fulminant hepatitis, He...	ORPHA:2137
Phosphoribosylpyrophosphate Synthetase Superactivity	Cryptorchidism, Ataxia, Sparse hair	OMIM:300661
Cockayne Syndrome	Urinary incontinence, Retinal atrophy, Splenomegaly, Fine hair, Optic atrophy, Band keratopathy, ...	ORPHA:191
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1	Loose anagen hair, Hyperkeratosis, Sparse scalp hair, Long eyelashes, Curly hair, Sparse hair, Cr...	OMIM:607721
46,Xy Sex Reversal 6	Dysgerminoma, Hirsutism, Sparse axillary hair	OMIM:613762
Mosaic Variegated Aneuploidy Syndrome 2	Hypothyroidism, Decreased response to growth hormone stimulation test, Sparse hair	OMIM:614114
Spherocytosis, Type 1	Jaundice, Cholelithiasis, Hyperbilirubinemia, Spherocytosis, Reticulocytosis, Splenomegaly, Hemol...	OMIM:182900
Bile Acid Synthesis Defect, Congenital, 3	Cirrhosis, Jaundice, Intrahepatic cholestasis, Hepatomegaly, Steatorrhea, Acholic stools, Hyperbi...	OMIM:613812
Hyperparathyroidism, Neonatal Severe	Polydipsia, Polyuria, Calcinosis, Hepatomegaly, Anemia, Hypercalciuria, Primary hyperparathyroidi...	OMIM:239200
Rothmund-Thomson Syndrome	Nail dysplasia, Palmar hyperkeratosis, Small nail, Abnormality of the nail, Sparse eyelashes, Spa...	ORPHA:2909
Stromme Syndrome	Accessory spleen, Optic nerve hypoplasia, Microcornea, Hydronephrosis, Sclerocornea, Bilateral re...	OMIM:243605
Cholestasis, Progressive Familial Intrahepatic, 2	Cirrhosis, Intrahepatic cholestasis, Hepatomegaly, Hepatocellular carcinoma, Intermittent jaundic...	OMIM:601847
Lethal Congenital Contracture Syndrome 2	Akinesia	OMIM:607598
Japanese Encephalitis	Pill-rolling tremor, Hypertonia, Paralysis, Respiratory paralysis, Abnormality of extrapyramidal ...	ORPHA:79139
Neurodegeneration With Brain Iron Accumulation 1	Bradykinesia, Babinski sign, Akinesia, Abnormality of extrapyramidal motor function, Spasticity, ...	OMIM:234200
Aspartylglucosaminuria	Hepatomegaly, Splenomegaly, Aspartylglucosaminuria, Macroorchidism	ORPHA:93
Linear Nevus Sebaceus Syndrome	Adenoma sebaceum, Alopecia	ORPHA:2612
White-Sutton Syndrome	Waddling gait, Sparse hair	OMIM:616364
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome	Broad-based gait, Highly arched eyebrow, Hypoplastic nipples, Dry skin, Gait ataxia, Sparse later...	OMIM:280000
Cockayne Syndrome Type 3	Premature graying of hair, Retinal atrophy, Splenomegaly, Retinal hemorrhage, Cataract, Dry hair,...	ORPHA:90324
Tubulointerstitial Nephritis And Uveitis Syndrome	Renal tubular epithelial necrosis, Decreased glomerular filtration rate, Normochromic anemia, Cys...	ORPHA:91500
Opitz-Kaveggia Syndrome	Spasticity, Facial wrinkling, Cryptorchidism, Sparse hair, Frontal upsweep of hair, Fine hair	OMIM:305450
Bartsocas-Papas Syndrome 1	Small nail, Absent eyelashes, Sparse scalp hair, Bilateral cryptorchidism, Absent eyebrow, Dry sk...	OMIM:263650
Lipodystrophy, Familial Partial, Type 7	Babinski sign, Dysdiadochokinesis, Sparse scalp hair, Dry skin, Gait ataxia, Clonus, Sparse hair,...	OMIM:606721
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Hepatomegaly, Developmental glaucoma, Splenic cyst, Increased circulating thyroglobulin concentra...	OMIM:610199
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Nail dystrophy, Thyroiditis, Hypothyroidism, Hyperthyroidism, Alopecia	ORPHA:37042
Bile Acid Synthesis Defect, Congenital, 2	Steatorrhea, Jaundice, Intrahepatic cholestasis, Hepatomegaly, Hyperbilirubinemia, Splenomegaly	OMIM:235555
Spastic Paraplegia-Neuropathy-Poikiloderma Syndrome	Spastic gait, Demyelinating peripheral neuropathy, Basal lamina onion bulb formation	ORPHA:2821
Leiomyomatosis, Diffuse, With Alport Syndrome	Lenticonus, Hematuria, Renal insufficiency, Nephropathy, Microscopic hematuria, Thickened glomeru...	OMIM:308940
Glycogen Storage Disease Xii	Normocytic anemia, Jaundice, Hepatomegaly, Decreased erythrocyte fructose-1,6-bisphosphate aldola...	OMIM:611881
Autoimmune Polyendocrinopathy Type 3	Anterior pituitary dysgenesis, Graves disease, Hashimoto thyroiditis, Autoimmune hypoparathyroidi...	ORPHA:227982
Atypical Werner Syndrome	Premature graying of hair, Skin ulcer, Ovarian neoplasm, Abnormal hair morphology, Abnormal hair ...	ORPHA:79474
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Jaundice, Fava bean-induced hemolytic anemia, Leukocytosis, Reticulocytosis, Poikilocytosis, Prol...	OMIM:300908
Trichohepatoenteric Syndrome 1	Cholestasis, Renal cortical microcysts, Splenomegaly, Sparse hair, Fine hair, Jaundice, Hypospadi...	OMIM:222470
Tsh-Secreting Pituitary Adenoma	Enlarged pituitary gland, Increased circulating gonadotropin level, Abnormal hair quantity, Tremo...	ORPHA:91347
Menkes Disease	Hypertonia, Hypopigmentation of hair, Chorea, Spasticity, Dry skin, Woolly hair, Sparse hair	ORPHA:565
Porphyria, Congenital Erythropoietic	Loss of eyelashes, Cholelithiasis, Absent eyebrow, Hypertrichosis, Alopecia	OMIM:263700
Combined Immunodeficiency-Enteropathy Spectrum	Nail dystrophy, Alopecia of scalp, Hypoplasia of the thymus, Absent eyebrow, Hashimoto thyroiditi...	ORPHA:436252
Classical-Like Ehlers-Danlos Syndrome Type 2	Redundant skin, Cryptorchidism, Alopecia	ORPHA:536532
Drug-Induced Autoimmune Hemolytic Anemia	Autoimmune hemolytic anemia, Abnormal urinary color, Splenomegaly, Increased total bilirubin	ORPHA:90037
T-Cell Lymphoma, Subcutaneous Panniculitis-Like	Hypertriglyceridemia, Anemia, Hemophagocytosis, Pancytopenia, Splenomegaly, Increased circulating...	OMIM:618398
Dent Disease	Tubulointerstitial fibrosis, Proximal tubulopathy, Nephrocalcinosis, Renal hypophosphatemia, Rena...	ORPHA:1652
Chime Syndrome	Skin ulcer, Hyperkeratosis, Sparse hair, Fine hair, Erythema	ORPHA:3474
Cerebellar-Facial-Dental Syndrome	Limb hypertonia, Sparse eyebrow, Sparse hair, Fine hair, Cryptorchidism	ORPHA:444072
Tafro Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, Elevated circulating C-reactive protein concentration, Leu...	ORPHA:457077
Beta-Thalassemia Major	Anisopoikilocytosis, Irritability, Cirrhosis, Jaundice, Hepatomegaly, Hypochromic microcytic anem...	ORPHA:231214
Congenital Myopathy 12	Akinesia	OMIM:612540
Rothmund-Thomson Syndrome Type 2	Nail dysplasia, Facial erythema, Sparse or absent eyelashes, Plantar hyperkeratosis, Sparse hair,...	ORPHA:221016
Stuve-Wiedemann Syndrome 1	Hyperhidrosis, Premature skin wrinkling, Sparse hair	OMIM:601559
Focal Dermal Hypoplasia	Abnormality of the nail, Erythema, Alopecia	ORPHA:2092
Mandibuloacral Dysplasia With Type A Lipodystrophy	Sparse scalp hair, Onychogryposis, Alopecia	OMIM:248370
Teebi-Shaltout Syndrome	Highly arched eyebrow, Slow-growing hair, Low anterior hairline, Sparse hair	OMIM:272950
Autoimmune Polyendocrinopathy Type 4	Anterior pituitary dysgenesis, Xerostomia, Alopecia	ORPHA:227990
Aniridia 1	Corneal neovascularization, Aniridia, Corneal erosion, Optic nerve hypoplasia, Cataract, Hypoplas...	OMIM:106210
Thyrotoxic Periodic Paralysis, Susceptibility To, 1	Goiter, Periodic paralysis, Hyperthyroidism	OMIM:188580
Normosmic Congenital Hypogonadotropic Hypogonadism	Breast hypoplasia, Hypoplasia of the ovary, Decreased testicular size, Sparse body hair, Cryptorc...	ORPHA:432
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects	Hyperkalemia, Jaundice, Hepatomegaly, Splenomegaly, Conjugated hyperbilirubinemia, Cataract, Stom...	OMIM:608885
Supranuclear Palsy, Progressive, 2	Bradykinesia, Akinesia, Gait imbalance, Retrocollis, Falls, Rigidity, Parkinsonism, Eyelid apraxi...	OMIM:609454
Alpha-Thalassemia	Anisopoikilocytosis, Hemoglobin Barts, Jaundice, Anemia, Cholelithiasis, Reticulocytosis, Hepatos...	ORPHA:846
Multiple Pterygium Syndrome, Lethal Type	Akinesia	OMIM:253290
Premature Aging Syndrome, Penttinen Type	Hyperkeratosis, Sparse hair, Palmoplantar hyperkeratosis	OMIM:601812
Lysinuric Protein Intolerance	Cutis laxa, Fine hair, Pancreatitis, Sparse hair	OMIM:222700
Dermatomyositis	Facial erythema, Skin ulcer, V-sign, Abnormality of the nail, Abnormal hair quantity, Dry skin, S...	ORPHA:221
Thyrotoxic Periodic Paralysis	Thyrotoxicosis with toxic single thyroid nodule, Respiratory paralysis, Tetraplegia, Tremor, Thyr...	ORPHA:79102
Wilson Disease	Sunflower cataract, Portal fibrosis, Ascites, Splenomegaly, Dysphagia, High nonceruloplasmin-boun...	OMIM:277900
Colchicine Poisoning	Alopecia	ORPHA:31824
Machado-Joseph Disease Type 1	Babinski sign, Progressive cerebellar ataxia, Facial-lingual fasciculations, Abnormality of extra...	ORPHA:276238
Machado-Joseph Disease Type 2	Babinski sign, Progressive cerebellar ataxia, Facial-lingual fasciculations, Abnormality of extra...	ORPHA:276241
Foodborne Botulism	Paralysis, Diaphragmatic paralysis, Cerebral palsy, Xerostomia	ORPHA:228371
Insulin-Resistance Syndrome Type B	Abnormal salivary gland morphology, Hirsutism, Enlarged polycystic ovaries, Enlarged ovaries, Pol...	ORPHA:2298
Spherocytosis, Type 4	Jaundice, Hyperbilirubinemia, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia	OMIM:612653
Sympathetic Ophthalmia	Erythema, Poliosis, Alopecia	ORPHA:79098
Anemia, Congenital Dyserythropoietic, Type Ia	Hepatomegaly, Hyperbilirubinemia, Macrocytic dyserythropoietic anemia, Anemia of inadequate produ...	OMIM:224120
Craniolenticulosutural Dysplasia	Coarse hair, Cryptorchidism, Sparse hair, Brittle hair	OMIM:607812
Pituitary Adenoma 4, Acth-Secreting	Abnormal fear-induced behavior, Hypokalemia, Emotional lability, Hirsutism, Nephrolithiasis, Pitu...	OMIM:219090
Spherocytosis, Type 2	Jaundice, Hyperbilirubinemia, Spherocytosis, Reticulocytosis, Splenomegaly, Acanthocytosis, Hemol...	OMIM:616649
Orofaciodigital Syndrome I	Ovarian cyst, Sparse hair, Pancreatic cysts, Dry hair, Alopecia	OMIM:311200
Arthrogryposis Multiplex Congenita 5	Hypertonia, Akinesia, Premature skin wrinkling, Hand tremor	OMIM:618947
Parenteral Nutrition-Associated Cholestasis	Cirrhosis, Jaundice, Hepatomegaly, Cholelithiasis, Hyperlipidemia, Portal hypertension, Biliary h...	ORPHA:567983
Hardikar Syndrome	Intrahepatic bile duct dilatation, Cholestasis, Prolonged neonatal jaundice, Splenomegaly, Hypers...	OMIM:301068
Down Syndrome	Gait disturbance, Hyperthyroidism, Sparse hair	ORPHA:870
Amoebic Keratitis	Abnormal anterior chamber morphology, Abnormal corneal epithelium morphology, Corneal ulceration,...	ORPHA:67043
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome	Akinesia	OMIM:225790
Wiedemann-Rautenstrauch Syndrome	Alopecia of scalp, Hypertonia, Broad eyebrow, Premature skin wrinkling, Small nail, Truncal ataxi...	OMIM:264090
Ablepharon-Macrostomia Syndrome	Hypoplastic fingernail, Premature skin wrinkling, Absent eyelashes, Hypoplastic nipples, Redundan...	OMIM:200110
Localized Scleroderma	Hashimoto thyroiditis, Abnormal skin adnexa morphology, Patchy alopecia, Erythema	ORPHA:90289
Supranuclear Palsy, Progressive, 1	Bradykinesia, Akinesia, Gait imbalance, Retrocollis, Falls, Tremor, Rigidity, Parkinsonism, Eyeli...	OMIM:601104
Bardet-Biedl Syndrome	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypoplasia of penis, Hypoplasia of...	ORPHA:110
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Hypochromic microcytic anemia, Brittle hair, B lymphocytopenia, Sideroblastic anemia, Nephrocalci...	OMIM:616084
Gm2-Gangliosidosis, Ab Variant	Hypertonia, Chorea, Spastic tetraparesis, Exaggerated startle response, Abnormal pyramidal sign, ...	OMIM:272750
Alstrom Syndrome	Hypothyroidism, Decreased response to growth hormone stimulation test, Multinodular goiter, Alopecia	OMIM:203800
Toxin-Mediated Infectious Botulism	Paralysis, Diaphragmatic paralysis, Cerebral palsy	ORPHA:230800
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)	Distal sensory impairment, Broad-based gait, Ataxia, Decreased number of peripheral myelinated ne...	OMIM:256810
Choreoacanthocytosis	Bradykinesia, Falls, Peripheral axonal neuropathy, Chorea, Short attention span, Abnormal autonom...	ORPHA:2388
Overhydrated Hereditary Stomatocytosis	Jaundice, Hepatomegaly, Increased mean corpuscular volume, Hyperbilirubinemia, Reticulocytosis, P...	OMIM:185000
Pheochromocytoma/Paraganglioma Syndrome 3	Adrenal pheochromocytoma, Hyperhidrosis, Vocal cord paralysis, Extraadrenal pheochromocytoma	OMIM:605373
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency	Jaundice, Cholelithiasis, Spontaneous hemolytic crises, Nonspherocytic hemolytic anemia, Impaired...	OMIM:613470
Kikuchi-Fujimoto Disease	Ataxia, Erythema, Enlargement of parotid gland, Alopecia	ORPHA:50918
Hyperferritinemia With Or Without Cataract	Decreased transferrin saturation, Abnormal transferrin saturation, Anterior subcapsular cataract,...	OMIM:600886
Koolen-De Vries Syndrome Due To A Point Mutation	Decreased response to growth hormone stimulation test, Testicular neoplasm, Hyperkeratosis, Hypot...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Decreased response to growth hormone stimulation test, Testicular neoplasm, Hyperkeratosis, Hypot...	ORPHA:363958
Optic Nerve Hypoplasia, Bilateral	Optic nerve hypoplasia, Optic nerve aplasia, Remnants of the hyaloid vascular system, Morning glo...	OMIM:165550
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome	Nail dysplasia, Loss of ambulation, Unsteady gait, Sparse hair, Cryptorchidism	OMIM:616682
Lipodystrophy, Congenital Generalized, Type 1	Hypertriglyceridemia, Cirrhosis, Hepatomegaly, Clitoral hypertrophy, Hirsutism, Acute pancreatiti...	OMIM:608594
Syndromic Diarrhea	Trichorrhexis nodosa, Cirrhosis, Hepatomegaly, Abnormality of iron homeostasis, Hypopigmentation ...	ORPHA:84064
Steinert Myotonic Dystrophy	Decreased response to growth hormone stimulation test, Abnormality of thyroid physiology, Inabili...	ORPHA:273
Familial Mediterranean Fever	Hepatomegaly, Elevated circulating C-reactive protein concentration, Leukocytosis, Nephrotic synd...	OMIM:249100
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia	Highly arched eyebrow, Low posterior hairline, Sparse hair, Fine hair, Cryptorchidism	OMIM:613563
Atelis Syndrome 2	Anemia, Remnants of the hyaloid vascular system, Attention deficit hyperactivity disorder, Thromb...	OMIM:620185
Isolated Biliary Atresia	Xanthelasma, Cirrhosis, Jaundice, Hepatomegaly, Periportal fibrosis, Cholestasis, Bile duct proli...	ORPHA:30391
Hyperkalemic Periodic Paralysis	Hypertonia, Periodic hyperkalemic paralysis, Fasciculations, Cerebral palsy, Gait disturbance	ORPHA:682
Behcet Syndrome	Patchy alopecia, Erythema	OMIM:109650
Chronic Visceral Acid Sphingomyelinase Deficiency	Hypertriglyceridemia, Abnormal circulating lipid concentration, Cirrhosis, Hepatomegaly, Decrease...	ORPHA:77293
Restrictive Dermopathy	Scaling skin, Generalized hyperkeratosis, Sparse or absent eyelashes, Aplasia/Hypoplastia of the ...	ORPHA:1662
Chronic Graft Versus Host Disease	Nail dystrophy, Skin ulcer, Erythema, Onycholysis, Skin vesicle, Xerostomia, Alopecia	ORPHA:99921
Hereditary Elliptocytosis	Jaundice, Cholelithiasis, Hyperbilirubinemia, Reticulocytosis, Poikilocytosis, Prolonged neonatal...	ORPHA:288
Relapsing Polychondritis	Purpura, Erythema, Alopecia	ORPHA:728
Trichorhinophalangeal Syndrome, Type Ii	Alopecia of scalp, Sparse scalp hair, Bilateral cryptorchidism, Dry skin, Hypohidrosis, Cutis lax...	OMIM:150230
Oculo-Palato-Cerebral Syndrome	Retinal detachment, Cataract, Remnants of the hyaloid vascular system, Leukocoria	ORPHA:2714
Lipodystrophy, Congenital Generalized, Type 2	Hypertriglyceridemia, Cirrhosis, Hepatomegaly, Clitoral hypertrophy, Hirsutism, Acute pancreatiti...	OMIM:269700
Poliomyelitis	Hyperkinetic movements, Inability to walk, Fasciculations, Paraparesis, Paralysis	ORPHA:2912
Cryohydrocytosis	Reticulocytosis, Splenomegaly, Stomatocytosis, Hemolytic anemia, Pseudohyperkalemia	OMIM:185020
Marshall-Smith Syndrome	Hypertonia, Brittle hair, Highly arched eyebrow, Bilateral cryptorchidism, Synophrys, Thick eyebr...	OMIM:602535
Sporadic Pheochromocytoma/Secreting Paraganglioma	Episodic hyperhidrosis, Adrenal pheochromocytoma, Tremor, Vocal cord paralysis, Pallor, Extraadre...	ORPHA:276621
Hypokalemic Periodic Paralysis, Type 2	Periodic paralysis	OMIM:613345
Pheochromocytoma/Paraganglioma Syndrome 1	Adrenal pheochromocytoma, Hyperhidrosis, Vocal cord paralysis, Extraadrenal pheochromocytoma	OMIM:168000
Spherocytosis, Type 5	Jaundice, Abnormal platelet count, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia...	OMIM:612690
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii	Hypertonia, Loss of eyelashes, Spasticity, Rigidity, Thin eyebrow, Sparse hair, Cryptorchidism, A...	ORPHA:2636
Wrinkly Skin Syndrome	Progressive cerebellar ataxia, Excessive wrinkled skin, Excessive skin wrinkling on dorsum of han...	ORPHA:2834
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak	Periodic paralysis, Hand tremor	OMIM:609153
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Nail dystrophy, Small nail, Hypoplastic nipples, Thyroid hypoplasia, Absent nipple, Congenital hy...	OMIM:620186
Autosomal Recessive Robinow Syndrome	Fingernail dysplasia, Cryptorchidism, Long eyelashes, Alopecia	ORPHA:1507
Bohring-Opitz Syndrome	Dandy-Walker malformation, Abnormal optic nerve morphology, Delayed peripheral myelination	OMIM:605039
Pseudohypoaldosteronism, Type Iia	Periodic hyperkalemic paralysis, Pseudohypoaldosteronism	OMIM:145260
Autosomal Dominant Robinow Syndrome	Curly eyelashes, Onychogryposis of fingernail, Long eyelashes, Ridged fingernail, Fingernail dysp...	ORPHA:3107
Lenz-Majewski Hyperostotic Dwarfism	Cutis laxa, Anterior pituitary hypoplasia, Cryptorchidism, Sparse hair	OMIM:151050
Hypokalemic Periodic Paralysis, Type 1	Periodic paralysis	OMIM:170400
Inhalational Botulism	Paralysis, Xerostomia	ORPHA:254504
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Hypothyroidism, Cryptorchidism, Exocrine pancreatic insufficiency, Sparse hair	OMIM:620005
Adams-Oliver Syndrome 1	Alopecia, Supernumerary nipple, Small nail	OMIM:100300
Myhre Syndrome	Thick eyebrow, Ataxia, Sparse hair, Fine hair, Cryptorchidism	OMIM:139210
Glioblastoma	Paralysis	ORPHA:360
Intellectual Developmental Disorder, Autosomal Dominant 68	Sparse hair	OMIM:619934
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Abnormal fear-induced behavior, Hypospadias, Emotional lability, Recurrent urinary tract infectio...	ORPHA:353281
Insensitivity To Pain, Congenital, With Anhidrosis	Pain insensitivity, Decreased number of small peripheral myelinated nerve fibers, Abnormal autono...	OMIM:256800
Ring Chromosome 13 Syndrome	Primary hypothyroidism, Hypoplasia of the gallbladder, Alopecia	ORPHA:96176
Gm2 Gangliosidosis, Ab Variant	Inappropriate behavior, Abnormal fear-induced behavior, Cherry red spot of the macula	ORPHA:309246
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency	Enlarged polycystic ovaries, Decreased testicular size, Sparse body hair, Sparse pubic hair, Elev...	ORPHA:90796
Cartilage-Hair Hypoplasia	Sparse eyebrow, Sparse hair	ORPHA:175
Oculopalatocerebral Syndrome	Remnants of the hyaloid vascular system, Leukocoria	OMIM:257910
Liver Disease, Severe Congenital	Nail dystrophy, Lymphocytosis, Hypoproteinemia, Ascites, Biliary hyperplasia, Hyperammonemia, Leu...	OMIM:619991
Systemic Lupus Erythematosus	Chorea, Alopecia	ORPHA:536
Cranioectodermal Dysplasia 1	Thin nail, Slow-growing hair, Short nail, Sparse hair, Fine hair	OMIM:218330
Severe Generalized Junctional Epidermolysis Bullosa	Nail dystrophy, Abnormality of the nail, Anonychia, Paronychia, Alopecia	ORPHA:79404
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Hypoplasia of the ovary, Decreased testicular size, Alopecia	OMIM:619321
Chilton-Okur-Chung Neurodevelopmental Syndrome	Limb hypertonia, Highly arched eyebrow, Anterior pituitary hypoplasia, Sparse scalp hair, Synophr...	OMIM:619841
Pseudohypoaldosteronism Type 2	Periodic paralysis	ORPHA:757
Wiedemann-Rautenstrauch Syndrome	Decreased response to growth hormone stimulation test, Hypertonia, Dermal translucency, Premature...	ORPHA:3455
Full Nf2-Related Schwannomatosis	Retinal hamartoma, Posterior subcapsular cataract, Abnormal optic nerve morphology, Remnants of t...	ORPHA:637
Blau Syndrome	Abnormal salivary gland morphology, Anemia, Lymphadenopathy, Nephropathy, Abnormal optic nerve mo...	ORPHA:90340
Neurocardiofaciodigital Syndrome	Sparse eyebrow, Sparse hair	OMIM:619869
Cranioectodermal Dysplasia 2	Bile duct proliferation, Sparse eyelashes, Cutis laxa, Sparse eyebrow, Sparse hair	OMIM:613610
Hereditary Pheochromocytoma-Paraganglioma	Episodic hyperhidrosis, Adrenal pheochromocytoma, Tremor, Vocal cord paralysis, Pallor, Extraadre...	ORPHA:29072
Andersen-Tawil Syndrome	Periodic hypokalemic paresis, Periodic paralysis, Periodic hyperkalemic paralysis, Hyperaldostero...	ORPHA:37553
Neuroocular Syndrome	Brittle hair, Highly arched eyebrow, Microcornea, Stellate iris, Remnants of the hyaloid vascular...	OMIM:619539
Mandibuloacral Dysplasia Progeroid Syndrome	Nail dystrophy, Sparse eyebrow, Sparse hair, Palmoplantar hyperkeratosis	OMIM:619127
Microphthalmia, Syndromic 2	Hypospadias, Retinal detachment, Microcornea, Remnants of the hyaloid vascular system, Developmen...	OMIM:300166
Costello Syndrome	Redundant neck skin, Thin nail, Curly hair, Deep-set nails, Fragile nails, Sparse hair, Concave nail	OMIM:218040
Renpenning Syndrome 1	Brittle hair, Spasticity, Sparse lateral eyebrow, Decreased testicular size, Sparse hair	OMIM:309500
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Limb ataxia, Hypertonia, Skin ulcer, Oculomotor apraxia, Cholelithiasis, Broad-based gait, Spasti...	ORPHA:2072
Proximal Renal Tubular Acidosis	Low-molecular-weight proteinuria, Bicarbonaturia, Global proximal tubulopathy, Polydipsia, Hypoka...	ORPHA:47159
Igg4-Related Thyroid Disease	Euthyroid goiter, Sialadenitis, Thyroiditis, Thyrotoxicosis with diffuse goiter, Abnormal pituita...	ORPHA:64744
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Hyperkeratosis, Sparse scalp hair, Dry skin, Sparse eyelashes, Sparse eyebrow, Sparse hair, Fine ...	OMIM:210710
Wrinkly Skin Syndrome	Redundant skin, Short nail, Fragile nails, Sparse hair, Palmoplantar cutis laxa, Cryptorchidism, ...	OMIM:278250
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)	Hypertonia, Bile duct proliferation, Ataxia, Myoclonus, Paralysis, Tetraparesis	OMIM:203700
Hutchinson-Gilford Progeria Syndrome	Dystrophic fingernails, Loss of eyelashes, Premature skin wrinkling, Dystrophic toenail, Shufflin...	ORPHA:740
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures	Frontal hirsutism, Pseudohypoparathyroidism, Sparse hair, Redundant neck skin	OMIM:617157
Alström Syndrome	Hypertriglyceridemia, Urinary incontinence, Precocious puberty in females, Hyperlipidemia, Recurr...	ORPHA:64
Turner Syndrome Due To Structural X Chromosome Anomalies	Hyperconvex fingernails, Thyroiditis, Abnormality of the ovary, Low posterior hairline, Hashimoto...	ORPHA:99413
Mosaic Monosomy X	Hyperconvex fingernails, Thyroiditis, Abnormality of the ovary, Low posterior hairline, Hashimoto...	ORPHA:99228
Monosomy X	Hyperconvex fingernails, Thyroiditis, Abnormality of the ovary, Low posterior hairline, Hashimoto...	ORPHA:99226
Turner Syndrome	Hyperconvex fingernails, Thyroiditis, Abnormality of the ovary, Low posterior hairline, Hashimoto...	ORPHA:881
Porphyria, Acute Intermittent	Paralysis, Respiratory paralysis	OMIM:176000
Roberts Syndrome	Cryptorchidism, Sparse hair	ORPHA:3103
Focal Dermal Hypoplasia	Nail dysplasia, Nail dystrophy, Ridged nail, Brittle hair, Hypoplastic nipples, Absent fingernail...	OMIM:305600
Hyperkalemic Periodic Paralysis	Periodic hyperkalemic paralysis	OMIM:170500
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Hyperactivity, Highly arched eyebrow, Impulsivity, Aggressive behavior, Abnormality of the kidney...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Hyperactivity, Highly arched eyebrow, Impulsivity, Aggressive behavior, Abnormality of the kidney...	ORPHA:353277
Hemolytic Anemia, Cd59-Mediated, With Or Without Immune-Mediated Polyneuropathy	Paralysis	OMIM:612300
Paramyotonia Congenita Of Von Eulenburg	Periodic hypokalemic paresis	ORPHA:684
Andersen Cardiodysrhythmic Periodic Paralysis	Periodic paralysis, Hyperthyroidism, Periodic hypokalemic paresis	OMIM:170390
Pallister-Killian Syndrome	Hypertonia, Inability to walk, Sparse anterior scalp hair, Sparse scalp hair, Anhidrosis, Sparse ...	OMIM:601803
Tick-Borne Encephalitis	Hyperkinetic movements, Tongue fasciculations, Incoordination, Tremor, Speech apraxia, Paralysis	ORPHA:297
Renal Tubular Acidosis Iii	Periodic paralysis	OMIM:267200
Gitelman Syndrome	Neoplasm of the pancreas, Graves disease, Hashimoto thyroiditis, Primary hyperaldosteronism, Hype...	ORPHA:358
Gitelman Syndrome	Paralysis, Ataxia	OMIM:263800
Sarcoidosis	Enlarged lacrimal glands, Parotitis, Enlargement of parotid gland, Hypothyroidism, Hyperthyroidis...	ORPHA:797
Rift Valley Fever	Paralysis, Decerebrate rigidity, Hemiparesis, Paraparesis	ORPHA:319251
Neuropathy, Hereditary Sensory And Autonomic, Type Iii	Orthostatic hypotension, Decreased number of large peripheral myelinated nerve fibers	OMIM:223900
Bloom Syndrome	Sparse eyelashes, Paronychia, Patchy alopecia	ORPHA:125
Johanson-Blizzard Syndrome	Clitoral hypertrophy, Conjunctival icterus, Ascites, Urethrovaginal fistula, Splenomegaly, Septat...	OMIM:243800
Viss Syndrome	Hirsutism, Sparse scalp hair, Hypothyroidism, Cutis laxa, Alopecia	OMIM:619472
Primrose Syndrome	Dystrophic fingernails, Sparse scalp hair, Bilateral cryptorchidism, Synophrys, Hypothyroidism, C...	OMIM:259050
Acromelic Frontonasal Dysostosis	Hypopituitarism, Optic nerve hypoplasia, Cryptorchidism, Remnants of the hyaloid vascular system	OMIM:603671
Menke-Hennekam Syndrome 1	Cryptorchidism, Thick eyebrow, Sparse hair, Long eyelashes	OMIM:618332
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Delayed peripheral myelination	ORPHA:364577
Vascular Ehlers-Danlos Syndrome	Dermal translucency, Excessive wrinkled skin, Abnormal eyelash morphology, Abnormality of hair te...	ORPHA:286
Branchiooculofacial Syndrome	Premature graying of hair, Hypoplastic fingernail, Low posterior hairline, White forelock, Sparse...	OMIM:113620
Pineoblastoma	Paralysis, Pinealoma, Lethargy	ORPHA:251909
Aprosencephaly And Cerebellar Dysgenesis	Cerebellar dysplasia, Poorly formed metencephalon, Retinal dysplasia	OMIM:601374
Distal Renal Tubular Acidosis	Paralysis	ORPHA:18
Holoprosencephaly 2	Anterior pituitary agenesis, Chorioretinal coloboma, Remnants of the hyaloid vascular system, Iri...	OMIM:157170
Roberts-Sc Phocomelia Syndrome	Cryptorchidism, Sparse hair	OMIM:268300
Osteopetrosis, Autosomal Recessive 3	Periodic hypokalemic paresis	OMIM:259730

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.

Phenotype	Allele	Zygosity	Sex	Life Stage
Skin - MPATH pathological process term dystrophy	Fa2h^em1(IMPC)Mbp	HOM		Early adult

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 Fa2h.

No publications found that use IMPC mice or data for Fa2h.

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MGI Allele	Allele Type	Produced
Fa2h^{tm2e(KOMP)Wtsi}	Targeted, non-conditional allele	ES Cells
Fa2h^em1(IMPC)Mbp	Exon Deletion	Mice, Tissue
Fa2h^{tm2a(KOMP)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Fa2h^{tm1a(KOMP)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Fa2h^{tm1e(KOMP)Wtsi}	Targeted, non-conditional allele	ES Cells

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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Gene: Fa2h MGI:2443327

Gene Summary

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IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

X-ray

Histopathology

X-ray

Human diseases caused by Fa2h mutations

Histopathology

IMPC related publications

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