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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
abnormal vitreous body morphology	Fa2h^em1(IMPC)Mbp	HOM	Early adult	1.32×10^-06
increased freezing behavior	Fa2h^em1(IMPC)Mbp	HOM	Early adult	4.27×10^-23
decreased circulating HDL cholesterol level	Fa2h^em1(IMPC)Mbp	HOM	Early adult	9.09×10^-05
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	2.59×10^-06
abnormal eye morphology	Fa2h^em1(IMPC)Mbp	HOM	Early adult	0.00
abnormal coat/ hair morphology	Fa2h^em1(IMPC)Mbp	HOM	Early adult	5.13×10^-18
enlarged kidney	Fa2h^em1(IMPC)Mbp	HOM	Early adult	0.00
decreased circulating cholesterol level	Fa2h^em1(IMPC)Mbp	HOM	Early adult	1.82×10^-06
enlarged spleen	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
abnormal retina morphology	Fa2h^em1(IMPC)Mbp	HOM	Early adult	2.03×10^-05
abnormal kidney morphology	Fa2h^em1(IMPC)Mbp	HOM	Early adult	0.00
abnormal spleen morphology	Fa2h^em1(IMPC)Mbp	HOM	Early adult	0.00

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lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

X-ray

XRay Images Whole Body Dorso Ventral

30 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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Histopathology

Images

2 Images

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Human diseases caused by Fa2h mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

Human diseases associated with Fa2h (3 diseases)
Human diseases predicted to be associated with Fa2h (1159 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	Cerebellar atrophy, Optic atrophy, Dysmetria, Pontocerebellar atrophy, Dysdiadochokinesis, Cognit...	ORPHA:171629
Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration	Cerebellar atrophy, Ataxia, Dysmyelinating leukodystrophy, Optic atrophy, Dysmetria, Dysdiadochok...	OMIM:612319
Fatty Acid Hydroxylase-Associated Neurodegeneration	Cerebellar atrophy, Optic atrophy, Progressive gait ataxia, Falls, Mental deterioration, Loss of ...	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 3	Alopecia universalis	OMIM:613930
Alopecia-Intellectual Disability Syndrome 2	Alopecia universalis	OMIM:610422
Alopecia Areata 2	Alopecia of scalp, Patchy alopecia, Alopecia totalis, Alopecia universalis	OMIM:610753
Alopecia-Intellectual Disability Syndrome 1	Alopecia, Alopecia universalis	OMIM:203650
Alopecia Totalis	Alopecia, Alopecia of scalp	ORPHA:700
Alopecia, Familial Focal	Patchy alopecia	OMIM:104110
Alopecia, Congenital	Sparse hair, Alopecia	OMIM:300042
Alopecia Universalis Congenita	Absent eyebrow, Absent eyelashes, Absent pubic hair, Absent axillary hair, Alopecia universalis	OMIM:203655
Alopecia Universalis	Absent eyelashes, Absent eyebrow, Patchy alopecia, Alopecia universalis	ORPHA:701
Hypotrichosis Simplex	Sparse scalp hair, Alopecia, Sparse eyelashes, Sparse eyebrow, Sparse hair, Sparse body hair	ORPHA:55654
Hypotrichosis 4	Sparse scalp hair, Alopecia, Sparse eyelashes, Sparse eyebrow, Uncombable hair, Sparse body hair	OMIM:146550
Hypotrichosis 11	Sparse or absent eyelashes, Alopecia universalis, Absent axillary hair, Sparse hair, Aplasia/Hypo...	OMIM:615059
Alopecia Areata 1	Trachyonychia, Alopecia totalis, Nail pits, Patchy alopecia, Alopecia universalis	OMIM:104000
Perifolliculitis Capitis Abscedens Et Suffodiens, Familial	Alopecia, Alopecia of scalp	OMIM:260910
Alopecia-Intellectual Disability-Hypergonadotropic Hypogonadism Syndrome	Alopecia totalis	ORPHA:1014
Ectodermal Dysplasia 6, Hair/Nail Type	Sparse hair, Alopecia, Thin toenail, Dystrophic toenail	OMIM:614928
Hypotrichosis 15	Sparse scalp hair	OMIM:620177
Hypotrichosis 2	Sparse scalp hair	OMIM:146520
Hypotrichosis 9	Sparse scalp hair, Sparse body hair	OMIM:614237
Graham Little-Piccardi-Lassueur Syndrome	Sparse pubic hair, Sparse scalp hair, Alopecia, Sparse axillary hair	ORPHA:505
Severe Combined Immunodeficiency Due To Foxn1 Deficiency	Ridged nail, Nail pits, Congenital alopecia totalis	ORPHA:169095
Hypertrichosis, Anterior Cervical	Anterior cervical hypertrichosis	OMIM:600457
Hypertrichosis Universalis Congenita, Ambras Type	Congenital, generalized hypertrichosis	OMIM:145701
Hypertrichosis Lanuginosa Congenita	Congenital, generalized hypertrichosis, Double eyebrow	OMIM:145700
Parc Syndrome	Absent eyelashes, Absent eyebrow, Alopecia	OMIM:600331
Marie Unna Hereditary Hypotrichosis	Sparse scalp hair, Alopecia, Sparse or absent eyelashes, Coarse hair, Aplasia/Hypoplasia of the e...	ORPHA:444
Hypotrichosis 1	Sparse eyelashes, Sparse axillary hair, Sparse pubic hair, Sparse eyebrow, Abnormality of the nai...	OMIM:605389
Uncombable Hair Syndrome	Abnormal hair morphology, White hair, Coarse hair, Patchy alopecia, Trichodysplasia, Woolly hair	ORPHA:1410
Hypotrichosis 10	Sparse eyebrow, Sparse eyelashes, Sparse body hair	OMIM:614238
Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy	Alopecia, Onychogryposis of toenails, Alopecia of scalp, Sparse body hair, Dystrophic toenail	OMIM:617294
Odonto-Onycho Dysplasia-Alopecia Syndrome	Alopecia, Abnormal fingernail morphology, Hypoplastic toenails, Sparse eyebrow, Sparse hair, Spar...	ORPHA:2722
Trichodysplasia-Amelogenesis Imperfecta Syndrome	Alopecia of scalp, Trichodysplasia	ORPHA:79129
Trichodysplasia-Xeroderma Syndrome	Sparse scalp hair, Alopecia, Brittle hair, Sparse eyebrow, Sparse body hair, Coarse hair, Trichod...	ORPHA:3361
Spinocerebellar Ataxia Type 43	Peripheral axonal neuropathy, Decreased number of large peripheral myelinated nerve fibers, Unste...	ORPHA:497764
L-Ferritin Deficiency	Alopecia	OMIM:615604
Ectodermal Dysplasia 4, Hair/Nail Type	Absent eyebrow, Alopecia, Brittle hair, Absent eyelashes, Onycholysis, Nail dystrophy, Sparse bod...	OMIM:602032
Atrichia With Papular Lesions	Sparse hair	OMIM:209500
Monilethrix	Alopecia, Brittle hair, Abnormality of hair texture, Nail dystrophy, Nail dysplasia, Sparse hair	OMIM:158000
Hypertrichosis, Congenital Generalized	Congenital, generalized hypertrichosis, Hirsutism	OMIM:307150
Ringed Hair Disease	Abnormal hair pattern, Fine hair	ORPHA:169
Epidermolysis Bullosa Simplex 5D, Generalized Intermediate, Autosomal Recessive	Alopecia, Nail dystrophy	OMIM:616487
Null Syndrome	Ataxia, Decreased nerve conduction velocity, Abnormal cerebellum morphology, Inability to walk, O...	ORPHA:280234
Pili Bifurcati	Abnormal hair morphology, Abnormality of hair texture	ORPHA:720
Ichthyosis-Hypotrichosis Syndrome	Sparse hair	ORPHA:91132
Chronic Inflammatory Demyelinating Polyneuropathy	Somatic sensory dysfunction, Segmental peripheral demyelination/remyelination, Decreased nerve co...	ORPHA:2932
Charcot-Marie-Tooth Disease, Demyelinating, Type 1C	Decreased motor nerve conduction velocity, Onion bulb formation, Decreased distal sensory nerve a...	OMIM:601098
Charcot-Marie-Tooth Disease, Demyelinating, Type 4F	Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity...	OMIM:614895
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy	Ridged nail, Alopecia, Nail dystrophy, Nail pits	OMIM:601705
Witkop Syndrome	Ridged nail, Concave nail, Nail pits, Fine hair, Small nail, Sparse hair	OMIM:189500
Leukomelanoderma, Infantilism, Mental Retardation, Hypodontia, Hypotrichosis	Sparse hair	OMIM:246500
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1	Decreased number of peripheral myelinated nerve fibers, Cerebellar atrophy, Peripheral axonal neu...	OMIM:607250
Woolly Hair, Autosomal Recessive 3	Sparse scalp hair, Curly hair, Sparse eyelashes, Fine hair, Sparse hair, Trichorrhexis nodosa	OMIM:616760
Hypotrichosis 5	Alopecia, Sparse eyelashes, Abnormal sweat gland morphology, Absent pubic hair, Thin eyebrow, Abs...	OMIM:612841
Charcot-Marie-Tooth Disease, Dominant Intermediate A	Peripheral axonal neuropathy, Somatic sensory dysfunction, Steppage gait, Onion bulb formation, P...	OMIM:620378
Thumb Deformity And Alopecia	Alopecia	OMIM:188150
Spastic Paraplegia 55, Autosomal Recessive	Peripheral axonal neuropathy, Impaired distal vibration sensation, Optic atrophy, Distal sensory ...	OMIM:615035
Metachromatic Leukodystrophy Due To Saposin B Deficiency	Decreased nerve conduction velocity, Loss of ambulation, Gait ataxia, Mental deterioration, CNS d...	OMIM:249900
Charcot-Marie-Tooth Disease, Dominant Intermediate F	Impaired vibratory sensation, Impaired pain sensation, Distal sensory impairment, Steppage gait, ...	OMIM:615185
Charcot-Marie-Tooth Disease, Axonal, Type 2Gg	Segmental peripheral demyelination/remyelination, Distal sensory impairment, Steppage gait, Diffi...	OMIM:606483
Candidiasis, Familial, 1	Alopecia	OMIM:114580
Neurodegeneration, Childhood-Onset, With Brain Atrophy	Cerebellar atrophy, Ataxia, Inability to walk, Chorea, Axonal loss, Mental deterioration, Periphe...	OMIM:617672
Subacute Inflammatory Demyelinating Polyneuropathy	Decreased motor nerve conduction velocity, Somatic sensory dysfunction, Decreased distal sensory ...	ORPHA:206594
Pili Torti	Abnormal eyebrow morphology, Alopecia, Brittle hair, Abnormality of hair texture, Abnormality of ...	ORPHA:2889
Hidrotic Ectodermal Dysplasia	Slow-growing nails, Palmoplantar hyperkeratosis, Absent pubic hair, Sparse hair, Hyperkeratotic p...	ORPHA:189
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A	Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity...	OMIM:609260
Ceroid Lipofuscinosis, Neuronal, 11	Cerebellar atrophy, Retinal dystrophy, Ataxia, Optic atrophy, Mental deterioration	OMIM:614706
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1	Frontal lobe dementia, Axonal loss, Dementia, Gait disturbance, Gliosis, Abnormal upper motor neu...	OMIM:221770
Cervical Hypertrichosis With Underlying Kyphoscoliosis	Anterior cervical hypertrichosis, Sacral hypertrichosis, Lumbar hypertrichosis, Thoracic hypertri...	OMIM:117850
Björnstad Syndrome	Alopecia, Brittle hair	ORPHA:123
Charcot-Marie-Tooth Disease, Recessive Intermediate D	Steppage gait, Onion bulb formation, Distal sensory impairment	OMIM:616039
Hypertrophic Neuropathy Of Dejerine-Sottas	Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity...	OMIM:145900
Leukoencephalopathy-Palmoplantar Keratoderma Syndrome	Decreased number of peripheral myelinated nerve fibers, Unsteady gait, Dementia, Tip-toe gait, Co...	ORPHA:2386
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia	Alopecia, Abnormal fingernail morphology, Abnormal hair morphology, Hypohidrosis, Fine hair, Abno...	ORPHA:248
Charcot-Marie-Tooth Disease, X-Linked Recessive, 5	Segmental peripheral demyelination/remyelination, Optic atrophy, Distal sensory impairment, Gait ...	OMIM:311070
Ectodermal Dysplasia 9, Hair/Nail Type	Concave nail, Absent eyelashes, Atrichia, Nail dystrophy, Nail dysplasia, Sparse hair, Absent hair	OMIM:614931
Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness	Peripheral axonal degeneration, Impaired vibratory sensation, Impaired distal proprioception, Imp...	ORPHA:101097
Charcot-Marie-Tooth Disease, Demyelinating, Type 1G	Impaired pain sensation, Decreased compound muscle action potential amplitude, Impaired distal vi...	OMIM:618279
Crandall Syndrome	Alopecia, Brittle hair, Fine hair, Pili torti, Sparse body hair, Aplasia/Hypoplasia of the eyebrow	ORPHA:202
Charcot-Marie-Tooth Disease, Axonal, Type 2A1	Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity...	OMIM:118210
Charcot-Marie-Tooth Disease Type 4G	Impaired vibratory sensation, Decreased motor nerve conduction velocity, Peripheral axonal neurop...	ORPHA:99953
Charcot-Marie-Tooth Disease, Type 4A	Peripheral axonal degeneration, Decreased number of peripheral myelinated nerve fibers, Decreased...	OMIM:214400
Charcot-Marie-Tooth Disease, Demyelinating, Type 1B	Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity...	OMIM:118200
Hypotrichosis, Congenital, With Juvenile Macular Dystrophy	Sparse hair, Reduced terminal:vellus ratio, Pili torti	OMIM:601553
Osteopenia And Sparse Hair	Sparse hair	OMIM:259690
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia	Peripheral axonal degeneration, Cerebellar atrophy, Ataxia, Hypercholesterolemia, Decreased numbe...	OMIM:208920
Roussy-Levy Hereditary Areflexic Dystasia	Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity...	OMIM:180800
Spinocerebellar Ataxia Type 25	Impaired pain sensation, Decreased number of large peripheral myelinated nerve fibers, Abnormal c...	ORPHA:101111
Charcot-Marie-Tooth Disease, Type 4H	Decreased number of peripheral myelinated nerve fibers, Waddling gait, Decreased motor nerve cond...	OMIM:609311
Acute Inflammatory Demyelinating Polyradiculoneuropathy	Dysesthesia, Unsteady gait, Gait ataxia, Acute demyelinating polyneuropathy, Onion bulb formation	ORPHA:98916
Charcot-Marie-Tooth Disease, Axonal, Type 2I	Decreased number of peripheral myelinated nerve fibers, Steppage gait, Axonal degeneration/regene...	OMIM:607677
Charcot-Marie-Tooth Disease, Axonal, Type 2H	Decreased number of peripheral myelinated nerve fibers, Steppage gait, Axonal regeneration, Dista...	OMIM:607731
Charcot-Marie-Tooth Disease, Demyelinating, Type 1F	Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity...	OMIM:607734
Peroxisome Biogenesis Disorder 8B	Cerebellar atrophy, Ataxia, Retinal dystrophy, Dysesthesia, Unsteady gait, Optic atrophy, Dysmetr...	OMIM:614877
Charcot-Marie-Tooth Disease, Demyelinating, Type 1A	Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity...	OMIM:118220
Ectodermal Dysplasia 7, Hair/Nail Type	Sparse scalp hair, Alopecia, Brittle hair, Sparse eyelashes, Abnormal sweat gland morphology, Spa...	OMIM:614929
Ectodermal Dysplasia 10A, Hypohidrotic/Hair/Nail Type, Autosomal Dominant	Ridged nail, Sparse eyelashes, Slow-growing hair, Sparse eyebrow, Fine hair, Hypohidrosis, Sparse...	OMIM:129490
Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant	Ataxia, Symmetric peripheral demyelination, Progressive neurologic deterioration, Abnormal cerebe...	OMIM:169500
Neuropathy, Hereditary Motor And Sensory, Okinawa Type	Decreased number of peripheral myelinated nerve fibers, Hyperlipidemia, Axonal degeneration, Dist...	OMIM:604484
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome	Abnormal eyelash morphology, Sparse scalp hair, Sparse body hair, Alopecia universalis	ORPHA:1008
Charcot-Marie-Tooth Disease, Dominant Intermediate B	Peripheral axonal degeneration, Decreased number of peripheral myelinated nerve fibers, Segmental...	OMIM:606482
Giant Axonal Neuropathy 2, Autosomal Dominant	Decreased motor nerve conduction velocity, Peripheral axonal neuropathy, Impaired distal vibratio...	OMIM:610100
Familial Peripheral Male-Limited Precocious Puberty	Male infertility, Abnormal hair morphology, Precocious puberty, Long penis, Oligozoospermia, Atte...	ORPHA:3000
Kerion Celsi	Alopecia	ORPHA:499
Pseudopelade Of Brocq	Sparse scalp hair, Alopecia, Abnormal hair morphology, Abnormality of the nail, Aplasia/Hypoplasi...	ORPHA:129
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome	Alopecia, Ataxia, Decreased response to growth hormone stimulation test, Cryptorchidism, Long eye...	ORPHA:3363
Palmoplantar Keratoderma And Congenital Alopecia 2	Alopecia totalis, Palmoplantar hyperkeratosis, Facial erythema, Hyperkeratosis, Nail dystrophy, N...	OMIM:212360
Quinquaud Folliculitis Decalvans	Abnormal hair morphology, Scarring alopecia of scalp, Patchy alopecia	ORPHA:346
Polycystic Kidney Disease 5	Stage 5 chronic kidney disease, Hepatosplenomegaly, Polycystic kidney dysplasia, Reduced renal co...	OMIM:617610
Cerebellar Ataxia-Ectodermal Dysplasia Syndrome	Ataxia, Cryptorchidism, Fine hair, Gait disturbance, Sparse hair	ORPHA:1174
Hypergonadotropic Hypogonadism And Partial Alopecia	Alopecia	OMIM:241090
Tooth Agenesis, Selective, 8	Sparse eyebrow, Dry skin, Sparse hair	OMIM:617073
Congenital Cataracts, Facial Dysmorphism, And Neuropathy	Peripheral axonal degeneration, Decreased motor nerve conduction velocity, Ataxia, Chorea, Axonal...	OMIM:604168
Bullous Dystrophy, Hereditary Macular Type	Alopecia totalis, Abnormality of the nail	OMIM:302000
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome	Abnormality of retinal pigmentation, Ataxia, Optic atrophy, Cerebellar hypoplasia, Cognitive impa...	ORPHA:2246
Ectodermal Dysplasia/Skin Fragility Syndrome	Absent eyebrow, Anhidrosis, Absent eyelashes, Palmoplantar hyperkeratosis, Nail dystrophy, Scalin...	OMIM:604536
Adult Krabbe Disease	Prolonged brainstem auditory evoked potentials, Broad-based gait, Abnormal medulla oblongata morp...	ORPHA:206448
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B	Optic disc pallor, Peripheral axonal neuropathy, Decreased number of large peripheral myelinated ...	OMIM:617087
Flynn-Aird Syndrome	Hyperkeratosis, Alopecia, Alopecia of scalp, Ataxia	OMIM:136300
Angioma Serpiginosum, X-Linked	Sparse hair, Nail dystrophy, Fine hair	OMIM:300652
Epidermolysis Bullosa, Junctional 5A, Intermediate	Absent pubic hair, Nail dystrophy, Absent axillary hair, Onycholysis of distal fingernails, Alope...	OMIM:619816
Familial Apolipoprotein Gene Cluster Deletion Syndrome	Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ...	OMIM:620058
Posterior Column Ataxia With Retinitis Pigmentosa	Broad-based gait, Bone spicule pigmentation of the retina, Ataxia, Decreased sensory nerve conduc...	OMIM:609033
Monilethrix	Abnormal eyebrow morphology, Brittle hair, Slow-growing hair, Abnormal eyelash morphology, Fine h...	ORPHA:573
Charcot-Marie-Tooth Disease, Recessive Intermediate A	Decreased number of large peripheral myelinated nerve fibers, Distal sensory impairment, Steppage...	OMIM:608340
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2K	Decreased nerve conduction velocity, Gait disturbance, Peripheral demyelination, Distal sensory i...	ORPHA:99944
Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive	Peripheral axonal degeneration, Decreased number of peripheral myelinated nerve fibers, Decreased...	OMIM:607706
Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome	Sparse scalp hair, Alopecia, Sparse eyebrow, Hypothyroidism, Fine hair, Hypohidrosis, Dystrophic ...	ORPHA:1882
Charcot-Marie-Tooth Disease, Type 4J	Decreased motor nerve conduction velocity, Decreased nerve conduction velocity, Distal sensory im...	OMIM:611228
Hepatorenocardiac Degenerative Fibrosis	Portal hypertension, Hypersplenism, Jaundice, Renal cyst, Hepatosplenomegaly, Tubular luminal dil...	OMIM:619902
Charcot-Marie-Tooth Disease, Axonal, Type 2J	Steppage gait, Peripheral demyelination, Axonal degeneration/regeneration, Distal sensory impairment	OMIM:607736
Palmoplantar Keratoderma And Congenital Alopecia 1	Alopecia, Brittle hair, Plantar hyperkeratosis, Epidermal hyperkeratosis, Sparse eyebrow, Leukony...	OMIM:104100
Charcot-Marie-Tooth Disease, Type 4B2	Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity...	OMIM:604563
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness	Cryptorchidism, Cataract, Chorioretinal coloboma	OMIM:274205
Charcot-Marie-Tooth Disease, Axonal, Type 2B1	Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity...	OMIM:605588
Charcot-Marie-Tooth Disease, Type 4C	Peripheral axonal degeneration, Decreased motor nerve conduction velocity, Prolonged brainstem au...	OMIM:601596
Schopf-Schulz-Passarge Syndrome	Ridged nail, Narrow nail, Thin nail, Poroma, Hyperkeratosis, Palmoplantar keratoderma, Onycholysi...	OMIM:224750
Ectodermal Dysplasia 15, Hypohidrotic/Hair Type	Sparse scalp hair, Sparse eyelashes, Slow-growing hair, Hypohidrosis, Palmoplantar keratoderma, S...	OMIM:618535
Moynahan Syndrome	Sparse hair, Hyperkeratosis, Alopecia	ORPHA:2574
Neuropathy, Congenital Hypomyelinating, 2	Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity...	OMIM:618184
Ichthyosis, Congenital, Autosomal Recessive 2	Anhidrosis, Alopecia, Thin nail, Paralysis, Abnormal hair morphology, Erythema, Hypohidrosis, Hyp...	OMIM:242100
Charcot-Marie-Tooth Disease, Type 4K	Axonal loss, Ataxia, Peripheral demyelination, Difficulty walking	OMIM:616684
Trichothiodystrophy 9, Nonphotosensitive	Ataxia, Sparse eyebrow, Nail dystrophy, Sparse hair, Tiger tail banding	OMIM:619692
Oliver-Mcfarlane Syndrome	Alopecia, Decreased response to growth hormone stimulation test, Long eyebrows, Cryptorchidism, L...	OMIM:275400
Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome	Congenital alopecia totalis, Tetraplegia/tetraparesis, Sparse eyebrow, Rigidity, Unsteady gait, D...	ORPHA:2269
Rothmund-Thomson Syndrome, Type 1	Absent eyebrow, Thin nail, Absent eyelashes, Hyperkeratosis, Nail dystrophy, Sparse hair, Hypothy...	OMIM:618625
Bjornstad Syndrome	Alopecia, Brittle hair, Dry hair, Coarse hair, Hair shafts flattened at irregular intervals and t...	OMIM:262000
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome	Alopecia, Palmoplantar keratoderma, Fingernail dysplasia, Sparse hair, Onychogryposis of fingerna...	ORPHA:2251
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Hepatomegaly, Hypersplenism, Splenomegaly, Anemia, Hypocholesterolemia, Thrombocytopenia	OMIM:610539
Epidermolysis Bullosa Simplex With Mottled Pigmentation	Alopecia, Plantar hyperkeratosis, Nail dystrophy, Nail dysplasia, Palmar hyperkeratosis, Hyperker...	ORPHA:79397
Neuropathy, Hereditary, With Liability To Pressure Palsies	Decreased motor nerve conduction velocity, Segmental peripheral demyelination/remyelination, Hypo...	OMIM:162500
Erythrokeratodermia Variabilis	Alopecia, Abnormal hair morphology, Erythema, Patchy palmoplantar hyperkeratosis, Dry skin, Hyper...	ORPHA:317
Hypotrichosis 6	Brittle hair, Sparse eyelashes, Sparse eyebrow, Erythema, Follicular hyperkeratosis, Sparse hair,...	OMIM:607903
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Neutropen...	OMIM:615285
Ectodermal Dysplasia-Syndactyly Syndrome 2	Sparse hair, Palmoplantar keratoderma, Follicular hyperkeratosis, Hyperhidrosis	OMIM:613576
Hidrotic Ectodermal Dysplasia, Christianson-Fourie Type	Sparse scalp hair, Absent eyebrow, Sparse eyelashes, Sparse axillary hair, Abnormal hair morpholo...	ORPHA:1808
Dermoodontodysplasia	Sparse scalp hair, Hypohidrosis, Fingernail dysplasia, Trichodysplasia, Dry skin, Toenail dysplas...	ORPHA:1660
Axin2-Related Attenuated Familial Adenomatous Polyposis	Sparse hair	ORPHA:401911
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome	Hyperactivity, Anorexia, Aggressive behavior, Abnormal fear-induced behavior, Irritability, Macro...	ORPHA:3077
Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, And Facial Dysmorphism	Sparse hair, Widow's peak, Thick eyebrow	OMIM:606242
Pili Torti-Onychodysplasia Syndrome	Absent eyebrow, Alopecia, Brittle hair, Absent eyelashes, Dry skin, Palmoplantar keratoderma, Nai...	ORPHA:2890
Charcot-Marie-Tooth Disease, Axonal, Type 2E	Decreased motor nerve conduction velocity, Decreased distal sensory nerve action potential, Facia...	OMIM:607684
Aredyld	Generalized hypotrichosis	OMIM:207780
Charcot-Marie-Tooth Disease, Dominant Intermediate D	Distal sensory impairment, Axonal degeneration/regeneration, Segmental peripheral demyelination/r...	OMIM:607791
Charcot-Marie-Tooth Disease, Axonal, Type 2L	Decreased number of large peripheral myelinated nerve fibers, Peripheral axonal neuropathy, Decre...	OMIM:608673
Paraparetic Variant Of Guillain-Barré Syndrome	Peripheral axonal neuropathy, Peripheral demyelination, Impaired distal proprioception	ORPHA:231445
Spastic Ataxia 5, Autosomal Recessive	Cerebellar atrophy, Spastic ataxia, Ataxia, Dysmetria, Dysdiadochokinesis, Cognitive impairment, ...	OMIM:614487
Charcot-Marie-Tooth Disease, Recessive Intermediate C	Decreased motor nerve conduction velocity, Somatic sensory dysfunction, Decreased number of large...	OMIM:615376
Hypotrichosis 13	Sparse hair, Woolly hair, Sparse eyelashes, Abnormal sweat gland morphology	OMIM:615896
Neuropathy, Hereditary Motor And Sensory, Russe Type	Decreased motor nerve conduction velocity, Decreased number of large peripheral myelinated nerve ...	OMIM:605285
Cortisone Reductase Deficiency 1	Alopecia, Hirsutism	OMIM:604931
Zinc Deficiency, Transient Neonatal	Alopecia	OMIM:608118
Hypotrichosis Simplex Of The Scalp	Abnormal eyebrow morphology, Sparse scalp hair, Parakeratosis, Absent facial hair, Abnormality of...	ORPHA:90368
Hair Defect With Photosensitivity And Mental Retardation	Brittle hair, Sparse eyelashes, Sparse eyebrow, Coarse hair, Sparse hair	OMIM:234030
Bathing Suit Ichthyosis	Alopecia, Parakeratosis, Palmoplantar hyperkeratosis, Hypohidrosis, Palmoplantar scaling skin, Na...	ORPHA:100976
Ichthyosis With Alopecia, Eclabium, Ectropion, And Mental Retardation	Alopecia	OMIM:242510
Ectodermal Dysplasia, Trichoodontoonychial Type	Abnormal eyelash morphology, Sparse hair, Abnormal toenail morphology, Sparse body hair, Aplasia/...	ORPHA:1818
Immunodeficiency, Common Variable, 6	Hepatomegaly, Glomerulonephritis, Autoimmune thrombocytopenia, Stage 5 chronic kidney disease, Me...	OMIM:613496
Krabbe Disease	Decreased nerve conduction velocity, Optic atrophy, CNS demyelination, Motor deterioration, Perip...	OMIM:245200
Ectodermal Dysplasia-Syndactyly Syndrome 1	Sparse scalp hair, Alopecia, Sparse eyelashes, Absent facial hair, Hypoplastic toenails, Coarse h...	OMIM:613573
Olmsted Syndrome 1	Subungual hyperkeratosis, Parakeratosis, Hyperparakeratosis, Periorificial hyperkeratosis, Orthok...	OMIM:614594
Charcot-Marie-Tooth Disease, Type 4D	Abnormal auditory evoked potentials, Segmental peripheral demyelination/remyelination, Impaired d...	OMIM:601455
Hypotrichosis 14	Sparse pubic hair, Short eyelashes, Absent axillary hair, Sparse hair, Sparse body hair	OMIM:618275
Charcot-Marie-Tooth Disease, Axonal, Type 2B	Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity...	OMIM:600882
Hypotrichosis 8	Ridged nail, Sparse scalp hair, Dry hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow,...	OMIM:278150
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis	Alopecia, Sparse eyelashes, Sparse eyebrow, Hypohidrosis, Nail dysplasia	OMIM:615704
Spastic Ataxia, Charlevoix-Saguenay Type	Progressive truncal ataxia, Spastic ataxia, Decreased motor nerve conduction velocity, Ataxia, De...	OMIM:270550
Spinocerebellar Ataxia 13	Cerebellar atrophy, Impaired distal vibration sensation, Optic atrophy, Limb ataxia, Gait ataxia,...	OMIM:605259
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia	Sparse scalp hair, Alopecia, Abnormal fingernail morphology, Hypoplastic toenails, Fingernail dys...	ORPHA:2325
Ichthyosis, Congenital, Autosomal Recessive 11	Curly hair, Brittle hair, Sparse eyelashes, Curly eyelashes, Sparse eyebrow, Hypohidrosis, Hyperk...	OMIM:602400
Clouston Syndrome	Alopecia, Brittle hair, Sparse eyelashes, Alopecia totalis, Slow-growing hair, Sparse eyebrow, Ab...	OMIM:129500
Neuropathy, Hereditary Sensory, Type Ie	Decreased number of peripheral myelinated nerve fibers, Ataxia, Dementia, Memory impairment, Deli...	OMIM:614116
Adult-onset autosomal dominant leukodystrophy (ADLD)	Abnormal autonomic nervous system physiology, Peripheral demyelination, Leukodystrophy	DECIPHER:59
Epidermolysis Bullosa, Junctional 1A, Intermediate	Plantar hyperkeratosis, Patchy alopecia, Nail dystrophy, Fragile nails, Palmar hyperhidrosis	OMIM:226650
Classic Mycosis Fungoides	Alopecia, Erythema, Skin ulcer, Hyperkeratosis, Dry skin, Abnormality of the nail	ORPHA:2584
Spastic Paraplegia 11, Autosomal Recessive	Decreased number of peripheral myelinated nerve fibers, Ataxia, Impaired distal vibration sensati...	OMIM:604360
Metachromatic Leukodystrophy	Ataxia, Decreased nerve conduction velocity, Chorea, Optic atrophy, Gait disturbance, Mental dete...	OMIM:250100
Hypotrichosis 7	Sparse scalp hair, Brittle hair, Sparse eyelashes, Sparse axillary hair, Abnormal sweat gland mor...	OMIM:604379
Porphyria Cutanea Tarda	Facial hypertrichosis, Alopecia, Onycholysis	OMIM:176100
Pseudoprogeria Syndrome	Absent eyebrow, Alopecia, Absent eyelashes, Sparse eyebrow, Progressive spastic quadriplegia, Spa...	ORPHA:2985
47,Xyy Syndrome	Male infertility, Hyperactivity, Macroorchidism, Hypospadias, Impulsivity, Cryptorchidism, Increa...	ORPHA:8
Slowed Nerve Conduction Velocity, Autosomal Dominant	Decreased nerve conduction velocity, Onion bulb formation, Peripheral demyelination	OMIM:608236
Spastic Paraplegia With Neuropathy And Poikiloderma	Demyelinating motor neuropathy, Demyelinating sensory neuropathy, Onion bulb formation	OMIM:182815
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1	Peripheral axonal degeneration, Cerebellar atrophy, Decreased number of peripheral myelinated ner...	OMIM:302800
Autosomal Dominant Hypohidrotic Ectodermal Dysplasia	Sparse hair, Abnormal fingernail morphology, Sparse body hair, Hypohidrosis	ORPHA:1810
Woolly Hair, Hypotrichosis, Everted Lower Lip, And Outstanding Ears	Sparse hair, Woolly hair	OMIM:278200
Trichotillomania	Alopecia	OMIM:613229
Syndromic X-Linked Intellectual Disability 7	Cryptorchidism, Sparse body hair	ORPHA:85274
Hidrotic Ectodermal Dysplasia, Halal Type	Sparse scalp hair, Absent eyebrow, Abnormal fingernail morphology, Supernumerary nipple, Absent e...	ORPHA:1809
Uncombable Hair Syndrome 3	Uncombable hair, Curly hair, Brittle hair, Pili canaliculi	OMIM:617252
Keratoderma Hereditarium Mutilans With Ichthyosis	Scaling skin on fingertip, Alopecia, Parakeratosis, Palmoplantar hyperkeratosis, Honeycomb palmop...	ORPHA:79395
Sabinas Brittle Hair Syndrome	Dry hair, Brittle hair, Nail dystrophy, Nail dysplasia, Sparse hair	OMIM:211390
Fragile X Syndrome	Macroorchidism, postpubertal, Hyperactivity, Self-biting, Recurrent hand flapping, Congenital mac...	OMIM:300624
Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive	Decreased motor nerve conduction velocity, Onion bulb formation, Peripheral hypomyelination, Abno...	OMIM:605253
Keratoderma Hereditarium Mutilans	Alopecia, Honeycomb palmoplantar hyperkeratosis, Hyperkeratosis, Abnormal toenail morphology, Abn...	ORPHA:494
Schöpf-Schulz-Passarge Syndrome	Alopecia, Ovarian neoplasm, Palmoplantar keratoderma, Sparse hair, Aplasia/Hypoplasia of the eyebrow	ORPHA:50944
Hypotrichosis And Recurrent Skin Vesicles	Sparse scalp hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow, Leukonychia, Skin vesi...	OMIM:613102
Squalene Synthase Deficiency	Hypospadias, Optic nerve hypoplasia, Increased circulating farnesol concentration, Bilateral cryp...	OMIM:618156
Intellectual Developmental Disorder, X-Linked 21	Macroorchidism, Synophrys, Hyperactivity, Impulsivity	OMIM:300143
X-Linked Hypohidrotic Ectodermal Dysplasia	Hypohidrosis, Sparse hair, Anterior hypopituitarism, Sparse body hair, Aplasia/Hypoplasia of the ...	ORPHA:181
Charcot-Marie-Tooth Disease Type 2B1	Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity...	ORPHA:98856
Morm Syndrome	Hyperactivity, Retinal atrophy, Retinal dystrophy, Abnormality of the kidney, Cataract, Aggressiv...	ORPHA:75858
Multiple Sulfatase Deficiency	Cerebellar atrophy, Ataxia, CNS demyelination, Rapid neurologic deterioration, Peripheral demyeli...	OMIM:272200
Focal Facial Dermal Dysplasia Type I	Absent eyelashes, Low anterior hairline, Sparse hair, Distichiasis, Sparse lateral eyebrow	ORPHA:79133
Methionine Adenosyltransferase I/Iii Deficiency	CNS demyelination, Peripheral demyelination	OMIM:250850
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques	Anhidrosis, Alopecia, Abnormal fingernail morphology, Erythema, Skin ulcer, Palmoplantar keratode...	ORPHA:659
Neutropenia, Severe Congenital, 9, Autosomal Dominant	Splenomegaly, Cataract, 3-Methylglutaconic aciduria	OMIM:619813
Intellectual Developmental Disorder, X-Linked 14	Macroorchidism	OMIM:300062
46,Xy Gonadal Dysgenesis With Minifascicular Neuropathy	Decreased number of peripheral myelinated nerve fibers, Impaired distal vibration sensation, Impa...	OMIM:607080
Palmoplantar Keratoderma And Woolly Hair	Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Leukonychia, Palmoplantar keratoderma, Wooll...	OMIM:616099
Hawkinsinuria	Sparse hair, Hypothyroidism, Fine hair	ORPHA:2118
Intellectual Developmental Disorder, X-Linked, Syndromic 32	Macroorchidism, Cardiomegaly	OMIM:300886
Mucopolysaccharidosis-Plus Syndrome	Synophrys, Low anterior hairline, Leukopenia, Chorioretinal hypopigmentation, Coarse hair, Hypoal...	OMIM:617303
Neuromyelitis Optica Spectrum Disorder	Somatic sensory dysfunction, Optic neuritis, Peripheral demyelination	ORPHA:71211
Congenital Ichthyosiform Erythroderma	Alopecia, Palmoplantar keratoderma, Abnormality of the nail, Hypohidrosis	ORPHA:79394
Trichothiodystrophy 8, Nonphotosensitive	Sparse eyebrow, Head titubation, Babinski sign, Spastic diplegia, Cutis laxa, Ankle clonus, Spars...	OMIM:619691
Nephronophthisis 16	Renal insufficiency, Stage 5 chronic kidney disease, Cholestasis, Periportal fibrosis, Polycystic...	OMIM:615382
Charcot-Marie-Tooth Disease, Type 4B1	Decreased motor nerve conduction velocity, Facial palsy, Abnormal auditory evoked potentials, Irr...	OMIM:601382
Autosomal Spastic Paraplegia Type 58	Cerebellar atrophy, Spastic ataxia, Chorea, Unsteady gait, Dysmetria, Gait ataxia, Tip-toe gait, ...	ORPHA:397946
Abetalipoproteinemia	Ataxia, CNS demyelination, Retinopathy, Peripheral demyelination, Retinal degeneration	OMIM:200100
Glut1 Deficiency Syndrome 1	Ataxia, Paralysis, Babinski sign, Spasticity, Choreoathetosis, Hemiparesis, Myoclonus, Lethargy, ...	OMIM:606777
Focal Facial Dermal Dysplasia 3, Setleis Type	Sparse hair, Distichiasis, Low anterior hairline, Absent lower eyelashes	OMIM:227260
X-Linked Intellectual Disability-Macrocephaly-Macroorchidism Syndrome	Macroorchidism	ORPHA:85320
Intellectual Developmental Disorder, X-Linked 2	Macroorchidism	OMIM:300428
Choroidal Atrophy-Alopecia Syndrome	Abnormal fingernail morphology, Supernumerary nipple, Bifid nail, Fine hair, Sparse or absent eye...	ORPHA:1433
Autosomal Recessive Spastic Paraplegia Type 35	Cerebellar atrophy, Optic atrophy, Dysmetria, Pontocerebellar atrophy, Dysdiadochokinesis, Cognit...	ORPHA:171629
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal	Hepatomegaly, Brittle hair, Sparse eyebrow, Developmental cataract, Hydrocele testis, Hypocholest...	OMIM:618810
Fibrodysplasia Ossificans Progressiva	Alopecia	ORPHA:337
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10	Retinal dysplasia, Cerebellar dysplasia	OMIM:615041
Intellectual Developmental Disorder, X-Linked, Syndromic 13	Restlessness, Emotional lability, Bruxism, Macroorchidism, Male hypogonadism, Juvenile cataract	OMIM:300055
Autosomal Recessive Palmoplantar Keratoderma And Congenital Alopecia	Nail dystrophy, Palmoplantar keratoderma, Alopecia totalis, Lack of skin elasticity	ORPHA:1366
Pachyonychia Congenita	Alopecia, Paronychia, Onychogryposis of toenails, Linear arrays of macular hyperkeratoses in flex...	ORPHA:2309
Alopecia-Intellectual Disability Syndrome	Sparse scalp hair, Alopecia, Sparse body hair, Aplasia/Hypoplasia of the eyebrow	ORPHA:2850
Ectodermal Dysplasia 11A, Hypohidrotic/Hair/Tooth Type, Autosomal Dominant	Anhidrosis, Brittle hair, Absent nipple, Hypohidrosis, Sparse hair, Dry skin, Absent hair	OMIM:614940
Intermediate Generalized Junctional Epidermolysis Bullosa	Scarring alopecia of scalp, Palmoplantar keratoderma, Nail dystrophy, Anonychia, Sparse body hair	ORPHA:79402
Hypotrichosis 12	Sparse scalp hair, Dry hair, Slow-growing hair, Sparse axillary hair, Abnormal sweat gland morpho...	OMIM:615885
Tangier Disease	Peripheral axonal neuropathy, Hypertriglyceridemia, Impaired temperature sensation, Impaired pain...	OMIM:205400
Odontoonychodermal Dysplasia	Ridged nail, Dry hair, Palmoplantar hyperkeratosis, Hyperhidrosis, Dystrophic fingernails, Thin n...	OMIM:257980
Hypobetalipoproteinemia, Familial, 1	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Acanthocytosis, Decreased LDL chol...	OMIM:615558
Cerebral Arteriopathy, Autosomal Recessive, With Subcortical Infarcts And Leukoencephalopathy	Alopecia, Ataxia, Rigidity, Gait apraxia, Abnormal pyramidal sign, Babinski sign, Dysmetria, Gait...	OMIM:600142
Ectodermal Dysplasia 11B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive	Absent eyebrow, Sparse scalp hair, Absent nipple, Sparse eyelashes, Anhidrosis, Absent eyelashes,...	OMIM:614941
Spinocerebellar Ataxia 25	Decreased number of peripheral myelinated nerve fibers, Cerebellar atrophy, Ataxia, Impaired pain...	OMIM:608703
Bardet-Biedl Syndrome 18	Renal insufficiency, Cataract, Retinal dystrophy, Stage 5 chronic kidney disease, Rod-cone dystrophy	OMIM:615995
Megalencephaly	Macroorchidism, Long penis	ORPHA:2477
Charcot-Marie-Tooth Disease Type 4A	Impaired distal proprioception, Decreased number of large peripheral myelinated nerve fibers, Ina...	ORPHA:99948
Woolly Hair	Hypopigmentation of hair, Brittle hair, Slow-growing hair, Abnormality of hair texture, Fine hair...	ORPHA:170
Flynn-Aird Syndrome	Primary adrenal insufficiency, Alopecia, Ataxia, Skin ulcer	ORPHA:2047
Bazex-Dupre-Christol Syndrome	Hypohidrosis, Coarse hair, Sparse hair, Trichoepithelioma, Pili torti, Trichorrhexis nodosa	OMIM:301845
Birdshot Chorioretinopathy	Retinal detachment, Optic disc pallor, Cataract, Abnormal chorioretinal morphology, Choroidal neo...	ORPHA:179
Charcot-Marie-Tooth Disease, Type 4B3	Decreased nerve conduction velocity, Distal sensory impairment, Gait disturbance, Loss of ambulat...	OMIM:615284
Isolated Follicle Stimulating Hormone Deficiency	Hyperplasia of the Leydig cells, Decreased female libido, Hypogonadotropic hypogonadism, Female h...	ORPHA:52901
Uncombable Hair Syndrome 1	Uncombable hair, Dry hair, Pili canaliculi	OMIM:191480
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7	Tremor, Vocal cord paresis, Vocal cord paralysis, Difficulty walking	OMIM:158580
Mental retardation, x-linked, syndromic, Turner type	Macroorchidism	OMIM:300706
H Syndrome	Abnormal eyebrow morphology, Alopecia, Hypertriglyceridemia, Abnormality of the kidney, Microcyti...	ORPHA:168569
Mitochondrial Dna Depletion Syndrome 7 (Hepatocerebral Type)	Cerebellar atrophy, Ataxia, Decreased number of large peripheral myelinated nerve fibers, Optic a...	OMIM:271245
Xq27.3Q28 Duplication Syndrome	Cryptorchidism, Decreased testicular size, Sparse body hair	ORPHA:261483
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant	Alopecia, Sparse eyelashes, Sparse eyebrow, Scarring alopecia of scalp, Facial erythema, Palmopla...	OMIM:612843
Lichen Planopilaris	Alopecia, Abnormal fingernail morphology, Skin ulcer, Hyperkeratosis, Onycholysis	ORPHA:525
Nephronophthisis 2	Absence of renal corticomedullary differentiation, Elevated circulating creatinine concentration,...	OMIM:602088
Olmsted Syndrome 2	Parakeratosis, Perioral hyperkeratosis, Palmoplantar hyperkeratosis, Hyperkeratosis, Palmoplantar...	OMIM:619208
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome	Dilated fourth ventricle, Cerebellar dysplasia, Retinal atrophy, Ataxia, Retinal dystrophy, Elong...	ORPHA:370022
17Q11.2 Microduplication Syndrome	Sparse eyebrow, Macroorchidism, Sparse eyelashes	ORPHA:139474
Bazex-Dupré-Christol Syndrome	Sparse scalp hair, Sparse eyebrow, Sparse or absent eyelashes, Coarse hair, Sparse hair, Pili tor...	ORPHA:113
Trichodental Dysplasia	Sparse hair, Brittle hair, Slow-growing hair, Fine hair	OMIM:601453
Neuropathy, Hereditary Sensory, X-Linked	Decreased number of peripheral myelinated nerve fibers	OMIM:310470
Classic Glucose Transporter Type 1 Deficiency Syndrome	Ataxia, Paralysis, Chorea, Choreoathetosis, Hemiparesis, Hypertonia, Myoclonus, Extrapyramidal dy...	ORPHA:71277
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency	Speech apraxia, Lower limb spasticity, Alopecia, Postural tremor, Rigidity, Oculomotor apraxia, U...	ORPHA:412057
Nicolaides-Baraitser Syndrome	Alopecia, Curly eyelashes, Highly arched eyebrow, Abnormal hair pattern, Cryptorchidism, Excessiv...	ORPHA:3051
Charcot-Marie-Tooth Disease Type 1F	Impaired vibratory sensation, Absent brainstem auditory responses, Somatic sensory dysfunction, D...	ORPHA:101085
Fragile X Syndrome	Macroorchidism, Self-injurious behavior, Attention deficit hyperactivity disorder	ORPHA:908
Mccune-Albright Syndrome	Precocious puberty, Hepatitis, Renal phosphate wasting, Renal tubular dysfunction, Increased circ...	ORPHA:562
Olmsted Syndrome, X-Linked	Subungual hyperkeratosis, Parakeratosis, Alopecia totalis, Palmoplantar hyperkeratosis, Hyperkera...	OMIM:300918
Aa Amyloidosis	Hepatomegaly, Proteinuria, Abnormality of the kidney, Chronic kidney disease, Cholestasis, Nephro...	ORPHA:85445
Xp22.13P22.2 Duplication Syndrome	Macroorchidism, Polycystic ovaries, Attention deficit hyperactivity disorder, Sparse hair, High a...	ORPHA:284180
Glycogen Storage Disease Ib	Hepatomegaly, Pancreatic fibrosis, Proteinuria, Hepatocellular carcinoma, Decreased glomerular fi...	OMIM:232220
Ichthyosis, Congenital, Autosomal Recessive 1	Alopecia, Parakeratosis, Palmoplantar hyperkeratosis, Nail dystrophy, Nail dysplasia, Sparse hair	OMIM:242300
Alpha-Methylacyl-Coa Racemase Deficiency	Cataract, Hypergonadotropic hypogonadism, Elevated circulating phytanic acid concentration, Depre...	OMIM:614307
Lethal Congenital Contracture Syndrome 8	Facial diplegia, Peripheral hypomyelination, Distal sensory impairment	OMIM:616287
Leber Congenital Amaurosis 1	Keratoconus, Hepatomegaly, Cataract, Fundus atrophy, Optic disc drusen, Pigmentary retinopathy, H...	OMIM:204000
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Hepatomegaly, Renal insufficiency, Portal hypertension, Absence of renal corticomedullary differe...	OMIM:263200
Functioning Gonadotropic Adenoma	Macroorchidism, postpubertal, Decreased female libido, Decreased response to growth hormone stimu...	ORPHA:91348
Wagner Vitreoretinopathy	Retinal pigment epithelial atrophy, Cataract, Optically empty vitreous, Optic atrophy, Chorioreti...	OMIM:143200
Partington Syndrome	Macroorchidism	ORPHA:94083
Congenital Megacalycosis	Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne...	ORPHA:93109
Corpus Callosum, Agenesis Of, With Facial Anomalies And Cerebellar Ataxia	Ataxia, Low anterior hairline, Hirsutism, Long eyelashes, Sparse hair, Thick eyebrow	OMIM:616819
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma	Alopecia, Sparse eyelashes, Acantholysis, Sparse eyebrow, Palmoplantar hyperkeratosis, Palmoplant...	OMIM:605676
Heyn-Sproul-Jackson Syndrome	Sparse hair	OMIM:618724
Charcot-Marie-Tooth Disease, Dominant Intermediate E	Axonal loss, Steppage gait, Onion bulb formation, Distal sensory impairment	OMIM:614455
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome	Central adrenal insufficiency, Alopecia, Small pituitary gland, Upper motor neuron dysfunction	OMIM:612079
Trichothiodystrophy 5, Nonphotosensitive	Broad-based gait, Brittle hair, Slow-growing hair, Sparse eyebrow, Gait ataxia, Reduced hair sulf...	OMIM:300953
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome	Alopecia, Hypopigmentation of hair	ORPHA:1067
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Renal dysplasia, Hepatomegaly, Ureteral duplication, Cataract, Renal insufficiency, Elevated circ...	OMIM:608836
Meckel Syndrome, Type 8	Ambiguous genitalia, Hyperechogenic kidneys, Polycystic kidney dysplasia, Enlarged kidney	OMIM:613885
Alopecia-Contractures-Dwarfism Mental Retardation Syndrome	Alopecia	OMIM:203550
Intellectual Developmental Disorder, X-Linked, Syndromic 11	Macroorchidism	OMIM:300238
Galactosemia Ii	Cataract, Hypergalactosemia, Galactosuria, Prolonged neonatal jaundice	OMIM:230200
Autosomal Dominant Polycystic Kidney Disease	Renal insufficiency, Polycystic liver disease, Recurrent urinary tract infections, Hepatic cysts,...	ORPHA:730
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits	Ataxia, Inability to walk, Oculomotor apraxia, Dysmetria, Sparse hair, Spasticity, Hirsutism, Lim...	OMIM:618087
Lelis Syndrome	Yellow nails, Absent lower eyelashes, Hypohidrosis, Palmoplantar hyperkeratosis, Nail dystrophy, ...	ORPHA:140936
Rhizomelic Chondrodysplasia Punctata	Alopecia, Dry skin, Sparse body hair	ORPHA:177
Menkes Disease	Alopecia, Brittle hair, Babinski sign, Cutis laxa, Hypertonia, Sparse hair	OMIM:309400
Hypertrichosis, Congenital Anterior Cervical, With Peripheral Sensory And Motor Neuropathy	Anterior cervical hypertrichosis	OMIM:239840
Giant Axonal Neuropathy 1, Autosomal Recessive	Decreased number of peripheral myelinated nerve fibers, Facial palsy, Abnormal cerebellum morphol...	OMIM:256850
Renal-Hepatic-Pancreatic Dysplasia 1	Asplenia, Hepatic fibrosis, Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypert...	OMIM:208540
Dermatopathia Pigmentosa Reticularis	Alopecia of scalp, Nail dystrophy, Palmoplantar hyperkeratosis, Hypohidrosis	OMIM:125595
Hemifacial Atrophy, Progressive	Patchy alopecia, Ataxia, Poliosis	OMIM:141300
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 3	Difficulty walking, Paralysis	OMIM:608634
Senior-Loken Syndrome	Abnormality of retinal pigmentation, Cataract, Retinal dystrophy, Premature ovarian insufficiency...	ORPHA:3156
Lipoid Proteinosis Of Urbach And Wiethe	Hyperkeratosis, Patchy alopecia	OMIM:247100
Polyembryoma	Abnormal peritoneum morphology, Abdominal mass, Isosexual precocious puberty, Elevated circulatin...	ORPHA:180229
Adrenoleukodystrophy	Alopecia, Incoordination, Paraparesis, Spastic paraplegia, Primary adrenal insufficiency, Slurred...	OMIM:300100
Peroxisome Biogenesis Disorder 3B	Hepatomegaly, Retinal dystrophy, Elevated circulating phytanic acid concentration, Steatorrhea, R...	OMIM:266510
Phenylketonuria	Maternal hyperphenylalaninemia, Hyperactivity, Cataract, Elevated urinary phenylpyruvic acid leve...	OMIM:261600
Focal Facial Dermal Dysplasia Type Iii	Sparse lower eyelashes, Redundant skin, Abnormal hair pattern, Highly arched eyebrow, Sparse hair...	ORPHA:1807
Ectodermal Dysplasia 10B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive	Anhidrosis, Sparse eyelashes, Sparse eyebrow, Hypohidrosis, Periorbital wrinkles, Sparse hair	OMIM:224900
Bile Acid Synthesis Defect, Congenital, 1	Hepatomegaly, Giant cell hepatitis, Conjugated hyperbilirubinemia, Intrahepatic cholestasis, Jaun...	OMIM:607765
Non-Functioning Pituitary Adenoma	Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio...	ORPHA:91349
Hereditary Mucoepithelial Dysplasia	Sparse hair, Hyperkeratosis, Alopecia, Fine hair	ORPHA:1839
Intellectual Developmental Disorder, Autosomal Recessive 5	Broad-based gait, Synophrys, Hypertonia, Sparse hair, Spasticity, Thick eyebrow	OMIM:611091
Renal Dysplasia	Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure...	ORPHA:93108
Paternal Uniparental Disomy Of Chromosome 1	Membranoproliferative glomerulonephritis, Proteinuria, Hypercalcemia, Macroscopic hematuria, Abno...	ORPHA:251004
Gand Syndrome	Sparse hair	OMIM:615074
Woolly Hair, Autosomal Dominant	Abnormal eyebrow morphology, Dry hair, Slow-growing hair, Abnormal eyelash morphology, Coarse hai...	OMIM:194300
Systemic Lupus Erythematosus 17	Alopecia, Chorea	OMIM:301080
Ectodermal Dysplasia-Blindness Syndrome	Abnormal fingernail morphology, Skin ulcer, Hypohidrosis, Fine hair, Hyperkeratosis, Sparse hair	ORPHA:1806
Sézary Syndrome	Alopecia, Tremor, Palmoplantar keratoderma, Nail dystrophy, Dry skin	ORPHA:3162
Atkin-Flaitz Syndrome	Macroorchidism	ORPHA:1193
Niemann-Pick Disease, Type B	Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Bone-marrow foam cel...	OMIM:607616
Lujan-Fryns Syndrome	Macroorchidism, Attention deficit hyperactivity disorder	ORPHA:776
Combined Oxidative Phosphorylation Defect Type 7	Decreased number of peripheral myelinated nerve fibers, Peripheral axonal neuropathy, Ataxia, Ina...	ORPHA:254930
Atypical Juvenile Parkinsonism	Resting tremor, Involuntary movements, Akinesia, Rigidity, Inability to walk, Abnormal pyramidal ...	ORPHA:391411
Cardiofaciocutaneous Syndrome 4	Absent eyebrow, Curly hair, Sparse eyelashes, Decreased response to growth hormone stimulation te...	OMIM:615280
Idiopathic Trachyonychia	Ridged nail, Thin nail, Concave nail, Nail pits, Patchy alopecia, Nail dystrophy, Fingernail dysp...	ORPHA:79153
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis	Decreased HDL cholesterol concentration, Developmental cataract, Decreased LDL cholesterol concen...	OMIM:616834
Alpha-Heavy Chain Disease	Alopecia	ORPHA:100025
Prolactin Deficiency With Obesity And Enlarged Testes	Macroorchidism, Reduced circulating prolactin concentration	OMIM:264120
Cardiofaciocutaneous Syndrome 2	Sparse hair, Curly hair, Absent eyebrow, Fine hair	OMIM:615278
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma	Alopecia, Multinodular goiter, Dry skin, Palmoplantar keratoderma, Nail dystrophy, Scaling skin, ...	OMIM:618373
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome	Alopecia, Highly arched eyebrow, Synophrys, Palmoplantar hyperkeratosis, Hypohidrosis, Dystrophic...	ORPHA:3253
Rapp-Hodgkin Syndrome	Sparse eyelashes, Slow-growing hair, Supernumerary nipple, Sparse eyebrow, Dry skin, Fine hair, P...	OMIM:129400
Progeroid Syndrome, Petty Type	Brittle hair, Redundant skin, Abnormal hair morphology, Cutis laxa, Abnormality of the nail, Long...	ORPHA:2963
Trisomy 20P	Hypospadias, Abnormality of the kidney, Highly arched eyebrow, Thick hair, Cryptorchidism, Abnorm...	ORPHA:261318
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome	Brittle hair, Sparse eyelashes, Abnormality of hair texture, Sparse eyebrow, Progressive hypotric...	OMIM:225060
Dyskeratosis Congenita, Autosomal Recessive 6	Sparse hair, Alopecia, Ataxia, Nail dystrophy	OMIM:616353
Glycosylphosphatidylinositol Biosynthesis Defect 25	Sparse hair, Coarse hair	OMIM:619985
Rhizomelic Chondrodysplasia Punctata, Type 1	Alopecia, Spasticity	OMIM:215100
Potocki-Lupski Syndrome	Hyperactivity, Oral-pharyngeal dysphagia, Abnormal renal morphology, Hypocholesterolemia, Abnorma...	OMIM:610883
Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration	Cerebellar atrophy, Ataxia, Dysmyelinating leukodystrophy, Optic atrophy, Dysmetria, Dysdiadochok...	OMIM:612319
Pandas	Anorexia, Impulsivity, Abnormal fear-induced behavior, Depression, Enuresis, Irritability, Tics, ...	ORPHA:66624
Ectodermal Dysplasia-Sensorineural Deafness Syndrome	Sparse hair, Hyperkeratosis, Coarse hair, Brittle hair	ORPHA:1883
Corticobasal Syndrome	Speech apraxia, Parkinsonism, Limb apraxia, Akinesia, Tremor, Involuntary movements, Oromotor apr...	ORPHA:454887
Proteasome-Associated Autoinflammatory Syndrome 5	Splenomegaly, Hepatomegaly, Hypertriglyceridemia	OMIM:619175
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome	Elevated circulating growth hormone concentration, Enlarged polycystic ovaries, Polycystic ovarie...	ORPHA:90301
Cronkhite-Canada Syndrome	Alopecia, Abnormal fingernail morphology, Hypoplastic toenails, Dystrophic toenail, Patchy alopec...	ORPHA:2930
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type)	Lethargy, Difficulty walking, Paralysis	OMIM:613710
Glycogen Storage Disease Ia	Hepatomegaly, Proteinuria, Decreased glomerular filtration rate, Hyperlipidemia, Lipemia retinali...	OMIM:232200
Hypomelanosis Of Ito	Alopecia	OMIM:300337
Leukodystrophy, Hypomyelinating, 5	Decreased motor nerve conduction velocity, Abnormal cerebellum morphology, CNS hypomyelination, L...	OMIM:610532
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase	Splenomegaly, Recurrent pancreatitis, Hyperlipoproteinemia	OMIM:118830
Lamellar Ichthyosis	Lack of skin elasticity, Hyperkeratosis, Sparse hair, Dry skin, Abnormality of the nail, Aplasia/...	ORPHA:313
Tetraamelia With Ectodermal Dysplasia And Lacrimal Duct Abnormalities	Sparse hair, Cryptorchidism	OMIM:273390
Johnson Neuroectodermal Syndrome	Absent eyebrow, Alopecia, Absent eyelashes, Hypohidrosis, Sparse hair	ORPHA:2316
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2	Kinetic tremor, Cryptorchidism, Gait ataxia, Fine hair, Truncal ataxia, Sparse hair, Spasticity, ...	OMIM:616817
Autoimmune Polyendocrinopathy Type 2	Hypoparathyroidism, Alopecia, Primary adrenal insufficiency, Graves disease, Hashimoto thyroiditis	ORPHA:3143
Trigeminal Neuralgia	Somatic sensory dysfunction, Cranial nerve compression, Paresthesia, CNS demyelination, Periphera...	ORPHA:221091
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome	Macroorchidism, Hyperactivity, Elevated circulating growth hormone concentration, Aggressive beha...	ORPHA:85327
Kaposiform Lymphangiomatosis	Metrorrhagia, Pancreatic cysts, Splenomegaly, Abnormality of the lymphatic system, Hepatosplenome...	ORPHA:464329
Alopecia Antibody Deficiency	Abnormal eyelash morphology, Sparse hair, Aplasia/Hypoplasia of the eyebrow, Sparse body hair	ORPHA:1006
Maternal Uniparental Disomy Of Chromosome 4	Neurogenic bladder, Abetalipoproteinemia, Elevated circulating creatine kinase concentration, Aca...	ORPHA:96180
Adult Syndrome	Sparse scalp hair, Alopecia, Absent nipple, Nail pits, Fine hair, Skin ulcer, Hypoplastic nipples...	ORPHA:978
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Ataxia, Macular coloboma, Severe demyelination of the white matter, Peripheral demyelination, Opt...	ORPHA:79282
Immunodeficiency, Common Variable, 12, With Autoimmunity	Alopecia, Pyoderma gangrenosum	OMIM:616576
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome	Freezing of gait, Akinesia, Tremor, Rigidity, Oculomotor apraxia, Unsteady gait, Bradykinesia, Sp...	ORPHA:240094
Isolated Thyroid-Stimulating Hormone Deficiency	Thyroid hypoplasia, Pituitary hypothyroidism, Depression, Attention deficit hyperactivity disorde...	ORPHA:90674
Clark-Baraitser syndrome	Macroorchidism	OMIM:300602
Cone-Rod Dystrophy 16	Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Cataract, Be...	OMIM:614500
Charcot-Marie-Tooth Disease, Axonal, Type 2K	Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity...	OMIM:607831
Hypotrichosis-Intellectual Disability, Lopes Type	Sparse hair	ORPHA:2266
Hypotrichosis-Lymphedema-Telangiectasia Syndrome	Sparse scalp hair, Alopecia, Absent eyebrow, Abnormal sweat gland morphology, Absent eyelashes, A...	OMIM:607823
Polyendocrine-Polyneuropathy Syndrome	Alopecia, Ataxia, Anterior pituitary hypoplasia, Abnormal pyramidal sign, Central hypothyroidism,...	ORPHA:453533
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Alopecia, Parakeratosis, Sparse eyelashes, Thick hair, Sparse eyebrow, Orthokeratosis, Bile duct ...	OMIM:607626
Shukla-Vernon Syndrome	Sparse hair, Broad-based gait	OMIM:301029
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome	Decreased number of peripheral myelinated nerve fibers, Optic disc pallor, Peripheral axonal neur...	ORPHA:320406
Hydrocephalus-Obesity-Hypogonadism Syndrome	Sparse facial hair, Absent facial hair, Low posterior hairline	ORPHA:2183
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Hepatomegaly, Optic disc pallor, Cataract, Ectopic kidney, Cryptorchidism, Cystic renal dysplasia	OMIM:613730
Chanarin-Dorfman Syndrome	Alopecia, Ataxia	OMIM:275630
Holocarboxylase Synthetase Deficiency	Lethargy, Alopecia, Ataxia	ORPHA:79242
Coenzyme Q10 Deficiency, Primary, 8	Peripheral demyelination	OMIM:616733
Congenital Short Bowel Syndrome	Sparse hair	ORPHA:2301
Spondylometaphyseal Dysplasia, Axial	Cone/cone-rod dystrophy, Splenomegaly, Optic atrophy, Rod-cone dystrophy, Retinal degeneration, R...	OMIM:602271
Incontinentia Pigmenti	Ridged nail, Alopecia, Supernumerary nipple, Erythema, Nail pits, Fine hair, Hyperkeratosis, Coar...	OMIM:308300
Lipodystrophy, Congenital Generalized, Type 3	Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Primary amenorrhea, Hepatosplenomegaly, Hypocal...	OMIM:612526
Jaberi-Elahi Syndrome	Appendicular spasticity, Broad-based gait, Brittle hair, Sparse eyelashes, Sparse eyebrow, Inabil...	OMIM:617988
Centrifugal Lipodystrophy	Alopecia, Erythema, Scaling skin	ORPHA:90156
Eem Syndrome	Sparse scalp hair, Absent eyebrow, Sparse body hair	ORPHA:1897
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor	Nephroblastoma, Enlarged kidney	OMIM:618272
East Syndrome	Cerebellar atrophy, Peripheral axonal neuropathy, Ataxia, Inability to walk, Hyperaldosteronism, ...	ORPHA:199343
Alopecia-Intellectual Disability Syndrome 4	Bilateral cryptorchidism, Alopecia	OMIM:618840
Fg Syndrome 3	Sparse hair, Cryptorchidism, Frontal upsweep of hair, Fine hair	OMIM:300406
Aromatase Deficiency	Male infertility, Macroorchidism, postpubertal, Hypergonadotropic hypogonadism, Female infertilit...	ORPHA:91
Autosomal Recessive Polycystic Kidney Disease	Cholangitis, Biliary hyperplasia, Abnormal intrahepatic bile duct morphology, Hepatic fibrosis, H...	ORPHA:731
Hereditary Bullous Dystrophy, Macular Type	Alopecia, Congenital abnormal hair pattern, Cryptorchidism, Atrichia, Nail dystrophy, Decreased t...	ORPHA:1867
Zellweger-Like Syndrome Without Peroxisomal Anomalies	Alopecia, Brittle hair	ORPHA:50812
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome	Alopecia, Hypohidrosis, Hyperkeratosis, Sparse hair, Abnormal toenail morphology	ORPHA:1005
Renal-Hepatic-Pancreatic Dysplasia 2	Hepatomegaly, Malformation of the hepatic ductal plate, Asplenia, Cholestasis, Hepatic fibrosis, ...	OMIM:615415
Cholestasis, Progressive Familial Intrahepatic, 10	Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Jaundice, Acholic stools, Portal fibro...	OMIM:619868
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Abnormality of retinal pigmentation, Proteinuria, Thick hair, Heparan sulfate excretion in urine,...	ORPHA:505248
Filippi Syndrome	Sparse hair, Cryptorchidism, Frontal hirsutism, Hypertrichosis	OMIM:272440
X-Linked Intellectual Disability, Shashi Type	Macroorchidism	ORPHA:85286
Oculocerebrocutaneous Syndrome	Cryptorchidism, Alopecia	OMIM:164180
Kufor-Rakeb Syndrome	Torticollis, Ataxia, Parkinsonism, Akinesia, Tremor, Rigidity, Paraparesis, Babinski sign, Spasti...	OMIM:606693
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb	Sparse eyelashes, Hypospadias, Sparse eyebrow, Macroorchidism, Alopecia of scalp, Iris coloboma	OMIM:618874
Congenital Disorder Of Glycosylation, Type Im	Alopecia, Sparse eyelashes, Sparse eyebrow, Tetraplegia, Hyperkeratosis, Dry skin	OMIM:610768
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type	Hyperactivity, Aggressive behavior, Low frustration tolerance, Compulsive behaviors, Macroorchidi...	OMIM:309520
Bilateral Frontoparietal Polymicrogyria	Cerebellar vermis hypoplasia, Cerebral dysmyelination, Hypoplasia of the pons, Abnormal cerebellu...	ORPHA:101070
Chylomicron Retention Disease	Decreased LDL cholesterol concentration, Steatorrhea, Hypoalbuminemia, Hypocholesterolemia, Hypot...	OMIM:246700
Charcot-Marie-Tooth Disease Type 1B	Decreased nerve conduction velocity, Peripheral axonal neuropathy, Somatic sensory dysfunction, P...	ORPHA:101082
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome	Sparse scalp hair, Alopecia, Absent eyebrow, Absent eyelashes, Hydrocele testis, Sparse body hair	ORPHA:69735
Gomez-Lopez-Hernandez Syndrome	Alopecia, Hypertonia, Ataxia, Decreased response to growth hormone stimulation test	OMIM:601853
Cutaneous Telangiectasia And Cancer Syndrome, Familial	Ridged nail, Alopecia, Yellow nails, Onycholysis, Nail dystrophy, Sparse lateral eyebrow	OMIM:614564
Leber Congenital Amaurosis 2	Keratoconus, Optic disc pallor, Cataract, Fundus atrophy, Absent foveal reflex, Pigmentary retino...	OMIM:204100
Tetrasomy 12P	Sparse hair, Sparse eyebrow, Hypohidrosis	ORPHA:884
Tooth Agenesis, Selective, 4	Sparse scalp hair, Sparse eyebrow, Hypohidrosis, Short eyelashes, Palmoplantar hyperhidrosis, Pal...	OMIM:150400
Tricho-Retino-Dento-Digital Syndrome	Uncombable hair, Sparse hair	ORPHA:1264
Incontinentia Pigmenti	Alopecia, Abnormal fingernail morphology, Supernumerary nipple, Abnormal hair morphology, Hemiple...	ORPHA:464
Galactose Epimerase Deficiency	Hepatomegaly, Cataract, Splenomegaly, Jaundice, Aminoaciduria	ORPHA:79238
Trimethylaminuria	Trimethylaminuria, Splenomegaly, Depression, Neutropenia, Anemia	OMIM:602079
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hepatomegaly, Hypertriglyceridemia, Increased circulating ferritin concentration, Thrombocytopeni...	OMIM:603552
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease	Absent brainstem auditory responses, Ataxia, Aganglionic megacolon, Cerebral dysmyelination, Shor...	OMIM:609136
Epidermolysis Bullosa Simplex With Muscular Dystrophy	Hyperconvex fingernails, Skin vesicle, Alopecia, Hypoplastic fingernail	ORPHA:257
Charcot-Marie-Tooth Disease-Deafness-Intellectual Disability Syndrome	Decreased number of large peripheral myelinated nerve fibers, Decreased nerve conduction velocity...	ORPHA:90103
Intellectual Developmental Disorder, Autosomal Dominant 65	Ataxia, Synophrys, Low posterior hairline, Clumsiness, Thin eyebrow, Sparse hair	OMIM:619320
Autoimmune Polyendocrinopathy Type 1	Hypoparathyroidism, Alopecia, Adrenal hyperplasia, Abnormal fingernail morphology, Primary adrena...	ORPHA:3453
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Nephrocalcinosis, Hepatic steatosis, Tubulointerstitial fibrosis, Hepatomegaly, Anemia, Irregular...	ORPHA:79259
Denys-Drash Syndrome	Diffuse mesangial sclerosis, True hermaphroditism, Septate vagina, Gonadal tissue inappropriate f...	OMIM:194080
Blepharocheilodontic Syndrome 1	Nail dysplasia, Small nail, Sparse hair, High anterior hairline, Distichiasis	OMIM:119580
Tyrosinemia, Type I	Hypertyrosinemia, Hepatomegaly, Renal insufficiency, Elevated circulating alpha-fetoprotein conce...	OMIM:276700
Renpenning Syndrome	Abnormal hairshaft morphology, Alopecia, Decreased testicular size, Thin eyebrow	ORPHA:3242
Neurodevelopmental Disorder With Speech Delay And Variable Ocular Anomalies	Sparse hair, Sparse eyebrow	OMIM:619989
Cholestasis, Progressive Familial Intrahepatic, 12	Hepatomegaly, Proteinuria, Conjugated hyperbilirubinemia, Splenomegaly, Jaundice, Cholestasis, In...	OMIM:620010
Anauxetic Dysplasia 2	Sparse hair, Nail dysplasia, Small nail	OMIM:617396
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome	Alopecia	ORPHA:88630
Congenital Disorder Of Glycosylation, Type Iio	Hepatomegaly, Decreased circulating ceruloplasmin concentration, Elevated circulating creatine ki...	OMIM:616828
Retinitis Pigmentosa 4	Bone spicule pigmentation of the retina, Retinal atrophy, Cataract, Pigmentary retinopathy, Rod-c...	OMIM:613731
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism	Resting tremor, Postural tremor, Parkinsonism, Akinesia, Rigidity, Clumsiness, Bradykinesia, Free...	OMIM:619911
Parkinson Disease 17	Resting tremor, Parkinsonism, Akinesia, Tremor, Rigidity, Bradykinesia	OMIM:614203
Spinocerebellar Ataxia Type 27	Akinesia, Tremor, Limb ataxia, Gait ataxia, Hand tremor, Gait disturbance, Difficulty walking, Tr...	ORPHA:98764
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency	Hyponatremia, Endometrial carcinoma, Decreased circulating cortisol level, Adrenal hyperplasia, J...	ORPHA:90790
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome	Alopecia, Brittle hair, Abnormality of the anterior pituitary, Coarse hair, Posterior pituitary h...	ORPHA:75389
Adams-Oliver Syndrome 2	Alopecia, Low anterior hairline, Small nail, Limb hypertonia	OMIM:614219
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability	Retinal detachment, Cataract, Corneal opacity, Optic atrophy, Hematuria, Chorioretinal coloboma, ...	ORPHA:1473
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome	Absent eyebrow, Alopecia, Sparse scalp hair, Sparse eyelashes, Epidermal hyperkeratosis, Absent e...	OMIM:137940
Fanconi Anemia, Complementation Group S	Ataxia, Low anterior hairline, Ovarian neoplasm, Long eyelashes, Ovarian carcinoma, Sparse hair	OMIM:617883
Coats Disease	Retinal detachment, Cataract, Abnormal retinal vascular morphology, Aplasia/Hypoplasia of the iri...	ORPHA:190
Dentatorubral Pallidoluysian Atrophy	Ataxia, Optic neuropathy, Dyssynergia, Impaired proprioception, Dysmetria, Gait ataxia, Choreoath...	ORPHA:101
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome	Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Scarring alopecia of scalp, Sparse body hair	ORPHA:59303
Pigmented Nodular Adrenocortical Disease, Primary, 4	Alopecia, Adrenal hyperplasia, Increased circulating cortisol level, Primary hypercortisolism, Hi...	OMIM:615830
Ane Syndrome	Alopecia, Anterior pituitary hypoplasia, Decreased response to growth hormone stimulation test, R...	ORPHA:157954
Hemochromatosis, Type 2A	Hepatomegaly, Hypogonadotropic hypogonadism, Splenomegaly, Increased circulating ferritin concent...	OMIM:602390
Trichothiodystrophy 4, Nonphotosensitive	Brittle hair, Sparse eyelashes, Abnormality of hair texture, Concave nail, Nail dystrophy, Small ...	OMIM:234050
Localized Junctional Epidermolysis Bullosa	Sparse axillary hair, Sparse pubic hair, Scarring alopecia of scalp, Atrophic, patchy alopecia, N...	ORPHA:251393
Epidermolysis Bullosa, Lethal Acantholytic	Alopecia totalis, Acantholysis, Absent fingernail, Anonychia, Alopecia universalis	OMIM:609638
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome	Macroorchidism, Cardiomegaly	ORPHA:324410
Charcot-Marie-Tooth Disease Type 4C	Decreased number of peripheral myelinated nerve fibers, Cerebellar atrophy, Decreased motor nerve...	ORPHA:99949
Cardiocranial Syndrome, Pfeiffer Type	Sparse hair, Abnormal hair whorl, Torticollis, Cryptorchidism	ORPHA:2872
Tangier Disease	Orange discolored tonsils, Hypertriglyceridemia, Corneal opacity, Chronic noninfectious lymphaden...	ORPHA:31150
Hypogonadotropic Hypogonadism 7 With Or Without Anosmia	Sparse pubic hair, Cryptorchidism, Decreased testicular size, Sparse axillary hair	OMIM:146110
Acute Peripheral Arterial Occlusion	Pallor, Paralysis	ORPHA:90064
Microphthalmia, Isolated 5	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, C...	OMIM:611040
Charcot-Marie-Tooth Disease, Axonal, Type 2R	Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity...	OMIM:615490
Trichohepatoenteric Syndrome 2	Brittle hair, Uncombable hair, Sparse hair, Woolly hair, Trichorrhexis nodosa	OMIM:614602
Dyskeratosis Congenita, Autosomal Dominant 3	Alopecia, Ataxia, Cryptorchidism, Fine hair, Premature graying of hair, Nail dysplasia, Dry skin	OMIM:613990
Hemochromatosis, Type 2B	Hepatomegaly, Splenomegaly, Increased circulating ferritin concentration, Elevated transferrin sa...	OMIM:613313
Galactosemia Iii	Hepatomegaly, Splenomegaly, Jaundice, Aminoaciduria, Galactosuria, Hypergalactosemia	OMIM:230350
Retinitis Pigmentosa	Keratoconus, Abnormality of retinal pigmentation, Hypoplasia of penis, Cataract, Abnormal retinal...	ORPHA:791
Megalocornea	Iridodonesis, Retinal detachment, Cataract, Deep anterior chamber, Mosaic corneal dystrophy, Iris...	OMIM:309300
Satoyoshi Syndrome	Alopecia, Alopecia universalis	OMIM:600705
Igg4-Related Kidney Disease	Elevated circulating C-reactive protein concentration, Lymphadenitis, Renal interstitial immunogl...	ORPHA:449395
Omenn Syndrome	Alopecia, Thyroiditis, Dry skin, Hypothyroidism, Aplasia/Hypoplasia of the eyebrow	ORPHA:39041
Agenesis Of The Corpus Callosum With Peripheral Neuropathy	Decreased motor nerve conduction velocity, Peripheral axonal neuropathy, Axonal degeneration/rege...	OMIM:218000
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism	Splenomegaly, Jaundice, Nonspherocytic hemolytic anemia, Elevated urinary delta-aminolevulinic acid	OMIM:206400
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia	Ridged nail, Absent eyebrow, Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Facial erythema...	ORPHA:1010
Hypertriglyceridemia, Transient Infantile	Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hepatic fibrosis, Hepatic steatosis	OMIM:614480
Autoimmune Lymphoproliferative Syndrome, Type Iii	Increased proportion autoreactive unresponsive CD21-/low B cells, Hepatomegaly, Autoimmune hemoly...	OMIM:615559
Leber Congenital Amaurosis 8	Keratoconus, Cataract, Macular coloboma, Chorioretinal atrophy, Nummular pigmentation of the fund...	OMIM:613835
Abetalipoproteinemia	Decreased HDL cholesterol concentration, Cardiomegaly, Hypoalbuminemia, Hepatic fibrosis, Hypocho...	ORPHA:14
Chylomicron Retention Disease	Hypertriglyceridemia, Acanthocytosis, Increased hepatocellular lipid droplets, Steatorrhea, Retin...	ORPHA:71
Cach Syndrome	Cataract, Premature ovarian insufficiency, Optic atrophy, Nonketotic hyperglycinemia, Renal hypop...	ORPHA:135
Retinitis Pigmentosa 9	Bone spicule pigmentation of the retina, Cataract, Macular atrophy, Macular edema, Rod-cone dystr...	OMIM:180104
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism	Sparse hair, Dry skin, Polycystic ovaries	OMIM:268020
Neurodevelopmental Disorder With Spasticity, Seizures, And Brain Abnormalities	Sparse hair, Cerebral palsy, Appendicular spasticity	OMIM:620001
Galactokinase Deficiency	Hepatomegaly, Cataract, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Hepatosp...	ORPHA:79237
Congenital Disorder Of Glycosylation, Type Ia	Hepatomegaly, Premature ovarian insufficiency, Proteinuria, Hypergonadotropic hypogonadism, Renal...	OMIM:212065
Ifap Syndrome 2	Sparse hair, Perioral erythema, Nail dystrophy, Atrichia	OMIM:619016
Paternal 20Q13.2Q13.3 Microdeletion Syndrome	Sparse hair, Aplasia/Hypoplasia of the eyebrow	ORPHA:261304
Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, And Other Abnormalities	Sparse hair, Hypoplastic nipples, Small nail	OMIM:273400
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome	Broad-based gait, Synophrys, Low anterior hairline, Fine hair, Spastic paraparesis, Sparse hair, ...	ORPHA:391408
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked	Absent eyebrow, Anhidrosis, Brittle hair, Absent nipple, Sparse eyelashes, Concave nail, Absent e...	OMIM:305100
Cranioectodermal Dysplasia	Sparse hair, Abnormal toenail morphology, Abnormal fingernail morphology	ORPHA:1515
2Q32Q33 Microdeletion Syndrome	Sparse hair, Decreased testicular size, Fine hair	ORPHA:251019
Diaphanospondylodysostosis	Nephrogenic rest, Nephroblastomatosis, Horseshoe kidney, Abnormal liver lobulation, Cystic renal ...	OMIM:608022
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive	Sparse hair, Alopecia, Palmoplantar keratoderma, Fragile nails	OMIM:242150
Stickler Syndrome Type 2	Retinal detachment, Cataract, Corneal opacity, Abnormal vitreous humor morphology, Retinopathy	ORPHA:90654
Trichothiodystrophy 1, Photosensitive	Brittle hair, Trichoschisis, Fine hair, Hyperkeratosis, Fragile nails, Nail dystrophy, Small nail...	OMIM:601675
Desbuquois Syndrome	Sparse hair, Abnormal eyelash morphology	ORPHA:1425
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z	Cerebellar atrophy, Impaired vibratory sensation, Somatic sensory dysfunction, Abnormality of per...	ORPHA:466768
Chromosome Xq27.3-Q28 Duplication Syndrome	Decreased testicular size, Cryptorchidism, Increased circulating gonadotropin level, Sparse body ...	OMIM:300869
Bardet-Biedl Syndrome 9	Bone spicule pigmentation of the retina, Cataract, Renal insufficiency, Irregular menstruation, A...	OMIM:615986
Ectodermal Dysplasia And Immunodeficiency 2	Anhidrosis, Sparse scalp hair, Hypohidrosis, Aplasia of the sweat glands, Sparse hair, Dry skin	OMIM:612132
Familial Exudative Vitreoretinopathy	Macular exudate, Macular telangiectasia, Peripheral retinal avascularization, Rhegmatogenous reti...	ORPHA:891
Myopia, High, With Cataract And Vitreoretinal Degeneration	Retinal detachment, Cataract, Vitreous floaters, Lattice retinal degeneration, Lens subluxation, ...	OMIM:614292
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency	Sparse hair, Hypopituitarism, Nail dystrophy, Hypohidrosis	ORPHA:98813
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome	Cataract, External genital hypoplasia, Cryptorchidism, Retinal coloboma, Hypogonadism, Rod-cone d...	ORPHA:363741
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1	Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Parkinsonism, Paralysis	OMIM:105500
Pancreatic Lipase Deficiency	Hypocholesterolemia, Steatorrhea	OMIM:614338
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 2	Paralysis	OMIM:158590
Intellectual Developmental Disorder, Autosomal Dominant 54	Anhidrosis, Lower limb spasticity, Ataxia, Thin nail, Inability to walk, Vocal cord paralysis, Hy...	OMIM:617799
Retinitis Pigmentosa 84	Bone spicule pigmentation of the retina, Cataract, Macular atrophy, Macular coloboma, Rod-cone dy...	OMIM:618220
Mitochondrial Complex I Deficiency, Nuclear Type 33	Sparse hair, Loss of ambulation, Spasticity	OMIM:618253
Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome	Alopecia, Supernumerary nipple	ORPHA:3224
Monosomy 18P	Alopecia, Hypothyroidism, Low posterior hairline	ORPHA:1598
Papillorenal Syndrome	Renal cyst, Macular degeneration, Vesicoureteral reflux, Multicystic kidney dysplasia, Optic disc...	OMIM:120330
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia	Athetosis, Amyotrophic lateral sclerosis, Paralysis	OMIM:300857
Even-Plus Syndrome	Sparse hair, Synophrys, Highly arched eyebrow	OMIM:616854
Bilateral Parasagittal Parieto-Occipital Polymicrogyria	Abnormal fear-induced behavior, Pseudobulbar paralysis, Aggressive behavior	ORPHA:208441
Spinocerebellar Ataxia 21	Ataxia, Parkinsonism, Akinesia, Postural tremor, Limb ataxia, Gait ataxia, Cogwheel rigidity, Pro...	OMIM:607454
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1	Cerebellar vermis hypoplasia, Retinal dystrophy, Facial palsy, Inability to walk, Cerebellar hypo...	OMIM:613155
Acrodermatitis Enteropathica	Ridged nail, Abnormal eyebrow morphology, Alopecia, Paronychia, Erythema, Skin ulcer, Ridged fing...	ORPHA:37
Dubowitz Syndrome	Sparse scalp hair, Hyperactivity, Aplastic anemia, Hypospadias, Cryptorchidism, Acute lymphoblast...	OMIM:223370
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome	Waddling gait, Ataxia, Retinal dystrophy, Delayed peripheral myelination, Unsteady gait, Difficul...	ORPHA:464282
Autosomal Recessive Spastic Paraplegia Type 55	Optic neuropathy, Optic atrophy, Distal sensory impairment, Cognitive impairment, Decreased senso...	ORPHA:320375
Acrocephalopolydactylous Dysplasia	Hepatomegaly, Pancreatic fibrosis, Hepatic fibrosis, Polysplenia, Ascites, Cystic renal dysplasia...	OMIM:200995
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections	Alopecia, Dry skin	OMIM:618282
Androgen Insensitivity Syndrome	Absent facial hair, Elevated circulating luteinizing hormone level, Sparse axillary hair, Sparse ...	OMIM:300068
Ectodermal Dysplasia-Skin Fragility Syndrome	Hypohidrosis, Palmoplantar keratoderma, Nail dystrophy, Difficulty walking, Scaling skin, Sparse ...	ORPHA:158668
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Hepatomegaly, Renal insufficiency, Anorexia, Thrombocytopenia, Splenomegaly, Optic atrophy, Hyper...	ORPHA:79312
Spinocerebellar Ataxia Type 26	Paralysis, Babinski sign, Limb ataxia, Progressive cerebellar ataxia, Progressive gait ataxia, Fa...	ORPHA:101112
Spastic Paraplegia-Precocious Puberty Syndrome	Hyperplasia of the Leydig cells, Precocious puberty in males	ORPHA:2826
19Q13.11 Microdeletion Syndrome	Supernumerary nipple, Cryptorchidism, Fine hair, Sparse or absent eyelashes, Nail dysplasia, Spar...	ORPHA:217346
Hemoglobin D Disease	Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A...	ORPHA:90039
Gyrate Atrophy Of Choroid And Retina	Cataract, Chorioretinal degeneration, Chorioretinal hyperpigmentation, Abnormal hair morphology, ...	ORPHA:414
Peho Syndrome	Cerebellar atrophy, Optic atrophy, Peripheral dysmyelination	OMIM:260565
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Acute myeloid leukemia, Pancytopenia, Hypertriglyceridemia, Elevated circulating C-reactive prote...	ORPHA:158057
Abnormal Hair, Joint Laxity, And Developmental Delay	Alopecia, Trichorrhexis nodosa, Small nail, Pili torti, Fragile nails, Sparse lateral eyebrow	OMIM:261990
Kdm5C-Related Syndromic X-Linked Intellectual Disability	Cryptorchidism, Spasticity, Patchy alopecia, Decreased testicular size	ORPHA:85279
Hyperbilirubinemia, Shunt, Primary	Reticulocytosis, Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Hyperbili...	OMIM:237800
Cutis Laxa, Autosomal Recessive, Type Iiib	Cryptorchidism, Fine hair, Cutis laxa, Athetosis, Excessive wrinkled skin, Sparse hair, Dermal tr...	OMIM:614438
Bleeding Disorder, Platelet-Type, 21	Alopecia	OMIM:617443
Hypocalcemic Vitamin D-Resistant Rickets	Alopecia, Hyperparathyroidism, Gait disturbance	ORPHA:93160
Spinocerebellar Ataxia Type 21	Akinesia, Tremor, Rigidity, Gait ataxia, Progressive cerebellar ataxia, Abnormality of extrapyram...	ORPHA:98773
Hemochromatosis, Type 1	Hepatomegaly, Alopecia, Hypogonadotropic hypogonadism, Cardiomegaly, Increased circulating ferrit...	OMIM:235200
Acrofacial Dysostosis, Palagonia Type	Sparse eyelashes, Low anterior hairline, Thin eyebrow, Sparse hair, Pili torti, Sparse lateral ey...	ORPHA:1787
Neuropathy, Hereditary Sensory And Autonomic, Type Ia	Decreased motor nerve conduction velocity, Impaired distal proprioception, Decreased number of la...	OMIM:162400
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones	Sparse facial hair, Sparse axillary hair	OMIM:608154
Hemoglobin H Disease	Hemolytic anemia, Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin	OMIM:613978
Wolfram Syndrome 1	Sideroblastic anemia, Neurogenic bladder, Cataract, Hydroureter, Megaloblastic anemia, Optic atro...	OMIM:222300
Smith-Lemli-Opitz Syndrome	Bifid scrotum, Small scrotum, Renal cyst, Hypoalbuminemia, Hypocholesterolemia, Micropenis, Hepat...	OMIM:270400
Testicular Regression Syndrome	Decreased testicular size, Abnormal male internal genitalia morphology, Hypoplasia of penis, Male...	ORPHA:983
Central Precocious Puberty In Male	Abnormality of the testis size, Aggressive behavior, Pituitary microadenoma, Abnormality of secon...	ORPHA:649929
Cholesteryl Ester Storage Disease	Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Jaundice, Cirrhosis, Hypercholesterolemia	ORPHA:75234
Cutis Laxa, Autosomal Recessive, Type Iiia	Sparse hair, Cryptorchidism, Athetosis, Cutis laxa	OMIM:219150
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome	Cataract, Cryptorchidism, Hypogonadism, Retinal coloboma, Rod-cone dystrophy	OMIM:601794
Anemia, Hypochromic Microcytic, With Iron Overload 2	Hepatomegaly, Increased circulating ferritin concentration, Elevated transferrin saturation, Sple...	OMIM:615234
Classic Progressive Supranuclear Palsy Syndrome	Parkinsonism, Akinesia, Tremor, Abnormal pyramidal sign, Bradykinesia, Blepharospasm, Slowed slur...	ORPHA:240071
Griscelli Syndrome Type 2	Hepatomegaly, Pancytopenia, Hypopigmentation of hair, Splenomegaly, Hyperlipidemia, Jaundice, Lym...	ORPHA:79477
Noonan Syndrome 6	Curly hair, Long eyebrows, Cryptorchidism, Low posterior hairline, Sparse hair	OMIM:613224
Bresek Syndrome	Cryptorchidism, Alopecia, Decreased testicular size	ORPHA:85284
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome	Cryptorchidism, Alopecia, Fine hair	ORPHA:228390
Hemihyperplasia-Multiple Lipomatosis Syndrome	Abnormality of the lymphatic system, Hydrocele testis, Nephroblastoma, Ovarian serous cystadenoma...	ORPHA:276280
Leprosy	Absent eyebrow, Alopecia, Testicular mass, Loss of eyelashes, Penetrating foot ulcers, Hypohidros...	ORPHA:548
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome	Sparse eyelashes, Hyperconvex nail, Supernumerary nipple, Sparse eyebrow, Hypohidrosis, Hyperconv...	ORPHA:1071
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies	Sparse hair, Patchy alopecia, Hypothyroidism	OMIM:617763
Giant Cell Arteritis	Alopecia, Ataxia, Skin ulcer, Hyperhidrosis	ORPHA:397
Nephronophthisis 19	Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Stage 5 chronic kidney dise...	OMIM:616217
Proteus Syndrome	Abnormality of retinal pigmentation, Thymus hyperplasia, Cataract, Central heterochromia, Testicu...	ORPHA:744
Kury-Isidor Syndrome	Alopecia, Hypertrichosis	OMIM:619762
Cerebroretinal Microangiopathy With Calcifications And Cysts 1	Ataxia, Tremor, Abnormal pyramidal sign, Fine hair, Premature graying of hair, Abnormality of ext...	OMIM:612199
Beckwith-Wiedemann Syndrome	Hepatomegaly, Overgrowth of external genitalia, Cardiomegaly, Cryptorchidism, Pancreatic hyperpla...	OMIM:130650
Mandibulofacial Dysostosis With Alopecia	Alopecia, Sparse eyelashes	OMIM:616367
Porphyria, Acute Hepatic	Respiratory paralysis, Paralysis	OMIM:612740
Holocarboxylase Synthetase Deficiency	Lethargy, Alopecia, Hypertonia	OMIM:253270
Joubert Syndrome 37	Sparse hair, Cryptorchidism, Oculomotor apraxia, Decreased testicular size	OMIM:619185
Beckwith-Wiedemann Syndrome	Ureteral duplication, Cardiomegaly, Vesicoureteral reflux, Nephropathy, Hepatoblastoma, Polycythe...	ORPHA:116
Alg12-Cdg	Hyponatremia, Retinal detachment, Hypospadias, Cryptorchidism, Low posterior hairline, B lymphocy...	ORPHA:79324
Laryngeal Adductor Paralysis	Paralysis	OMIM:150270
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Alopecia, Xerostomia, Nail dystrophy, Nail dysplasia	OMIM:175500
Keutel Syndrome	Alopecia	ORPHA:85202
Cataract 50 With Or Without Glaucoma	Retinal detachment, Cataract, Persistent pupillary membrane	OMIM:620253
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, Hepatosplenomeg...	OMIM:613101
Hyperparathyroidism, Transient Neonatal	Hyperparathyroidism, Unilateral renal agenesis, Ovarian cyst, Splenic cyst, Enlarged kidney	OMIM:618188
Exudative Vitreoretinopathy 6	Retinal detachment, Tractional retinal detachment, Cataract, Patchy atrophy of the retinal pigmen...	OMIM:616468
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor	Alopecia	OMIM:600785
Braddock-Carey Syndrome 1	Sparse hair, Curly hair, Spastic diplegia	OMIM:619980
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3	Curly hair, Impulsivity, Precocious puberty, Low anterior hairline, Stereotypical hand wringing, ...	OMIM:619950
Neurodegeneration With Brain Iron Accumulation 5	Parkinsonism, Akinesia, Tremor, Rigidity, Bradykinesia, Spastic paraparesis	OMIM:300894
Noonan Syndrome 14	Curly hair, Sparse eyebrow, Cryptorchidism, Low posterior hairline, Hyperhidrosis, Sparse hair, D...	OMIM:619745
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development	Retinal detachment, Cataract, Corneal opacity, Chorioretinal dysplasia, Aggressive behavior, Chor...	OMIM:152950
Rodrigues Blindness	Sparse hair, Fine hair	OMIM:268320
Glut1 Deficiency Syndrome 2	Hemolytic anemia, Reticulocytosis, Splenomegaly, Irritability, Reduced haptoglobin level	OMIM:612126
Endocrine-Cerebroosteodysplasia	Small scrotum, Hypospadias, Cryptorchidism, Sex reversal, Microphallus, Ambiguous genitalia, Hype...	OMIM:612651
Mucolipidosis Ii Alpha/Beta	Hepatomegaly, Brittle hair, Increased serum beta-hexosaminidase, Cardiomegaly, Sparse eyebrow, Sp...	OMIM:252500
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome	Hypoplasia of penis, Aplasia/Hypoplasia of the lens, Cataract, Hypospadias, Cryptorchidism	ORPHA:1381
Mucoepithelial Dysplasia, Hereditary	Alopecia, Coarse hair, Nail dystrophy, Nail dysplasia, Follicular hyperkeratosis, Sparse hair, Ch...	OMIM:158310
Peroxisome Biogenesis Disorder 2A (Zellweger)	Intrahepatic biliary dysgenesis, Hepatomegaly, Cataract, Brushfield spots, Cryptorchidism, Jaundi...	OMIM:214110
Manganese Poisoning	Postural tremor, Akinesia, Cogwheel rigidity, Bradykinesia, Hypertonia, Gait disturbance, Abnorma...	ORPHA:306682
Agel Amyloidosis	Ataxia, Xerostomia, Cutis laxa, Nail dystrophy, Sparse hair, Dry skin	ORPHA:85448
Dyskeratosis Congenita	Neoplasm of the pancreas, Abnormal eyebrow morphology, Alopecia, Abnormal fingernail morphology, ...	ORPHA:1775
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency	Lethargy, Alopecia, Cerebral palsy, Opisthotonus	OMIM:210210
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Hypoparathyroidism, Alopecia, Decreased circulating aldosterone level, Primary adrenal insufficie...	OMIM:240300
Butyrylcholinesterase Deficiency	Paralysis	ORPHA:132
Revesz Syndrome	Ataxia, Nail pits, Fine hair, Hypertonia, Nail dystrophy, Sparse hair, Ridged fingernail	OMIM:268130
X-Linked Agammaglobulinemia	Alopecia, Skin ulcer	ORPHA:47
Galactosemia I	Hemolytic anemia, Hepatomegaly, Cataract, Premature ovarian insufficiency, Hypergonadotropic hypo...	OMIM:230400
Progressive Multifocal Leukoencephalopathy	Somatic sensory dysfunction, Abnormal oligodendroglia morphology, Dysmetria, Gait ataxia, Paresth...	ORPHA:217260
Alg9-Cdg	Hepatomegaly, Hypoplasia of the bladder, Ureteral hypoplasia, Low posterior hairline, Irritabilit...	ORPHA:79328
Cholestasis-Lymphedema Syndrome	Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Hyperlipidemia, Jaundice, Cirrhosis, N...	OMIM:214900
Immunodeficiency, Common Variable, 10	Alopecia totalis, Trachyonychia, Central adrenal insufficiency, Decreased response to growth horm...	OMIM:615577
Horner Syndrome, Congenital	Paralysis	OMIM:143000
Postencephalitic Parkinsonism	Resting tremor, Involuntary movements, Akinesia, Rigidity, Babinski sign, Abnormal pyramidal sign...	ORPHA:97349
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells	Hypersplenism, Splenomegaly, Pancytopenia, Decreased helper T cell proportion	OMIM:183350
Pierson Syndrome	Diffuse mesangial sclerosis, Retinal detachment, Rieger anomaly, Cataract, Remnants of the hyaloi...	OMIM:609049
Dyskeratosis Congenita, Autosomal Dominant 1	Ridged nail, Alopecia, Ataxia, Nail pits, Premature graying of hair, Nail dystrophy, Sparse hair	OMIM:127550
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate	Sparse eyelashes, Hyperconvex nail, Supernumerary nipple, Absent eyelashes, Patchy alopecia, Palm...	OMIM:106260
Hutchinson-Gilford Progeria Syndrome	Alopecia	OMIM:176670
Griscelli Syndrome	Hepatomegaly, Abnormal eyebrow morphology, Abnormality of neutrophils, Abnormal eyelash morpholog...	ORPHA:381
Cerebrooculofacioskeletal Syndrome 2	Sparse hair	OMIM:610756
Satoyoshi Syndrome	Abnormal hair morphology, Sparse or absent eyelashes, Hypoplasia of the ovary, Abnormality of the...	ORPHA:3130
Helsmoortel-Van Der Aa Syndrome	Recurrent urinary tract infections, Hyperactivity, Decreased response to growth hormone stimulati...	OMIM:615873
Myasthenic Syndrome, Congenital, 16	Gait disturbance, Periodic paralysis	OMIM:614198
Glycogen Storage Disease Ixa1	Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hyperuricemia, Hypercholesterolemia	OMIM:306000
Immunodeficiency 69	Pancytopenia, Splenomegaly, Increased circulating ferritin concentration, Leukocytosis, Hepatospl...	OMIM:618963
Poretti-Boltshauser Syndrome	Dilated fourth ventricle, Cerebellar dysplasia, Cerebellar vermis hypoplasia, Retinal atrophy, Re...	OMIM:615960
Congenital Rubella Syndrome	Hepatomegaly, Abnormality of retinal pigmentation, Cataract, Corneal opacity, Splenomegaly, Jaund...	ORPHA:290
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome	Renal malrotation, Multicystic kidney dysplasia, Transient neutropenia, Cataract, Chronic neutrop...	ORPHA:500095
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome	Remnants of the hyaloid vascular system, Retinal dystrophy, Microcornea, Posterior lenticonus, Ch...	ORPHA:231736
Mitochondrial Neurogastrointestinal Encephalomyopathy	Decreased motor nerve conduction velocity, Peripheral axonal neuropathy, Decreased number of larg...	ORPHA:298
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance	Cerebellar atrophy, Ataxia, Dysdiadochokinesis, Hyperaldosteronism, Peripheral hypomyelination, C...	OMIM:612780
Lymphoid Interstitial Pneumonia	Hepatomegaly, Keratoconjunctivitis sicca, Mediastinal lymphadenopathy, Enlarged kidney	ORPHA:79128
Biotinidase Deficiency	Lethargy, Alopecia, Ataxia	OMIM:253260
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly	Sparse hair, Curly hair, Synophrys, Sparse eyebrow	OMIM:620075
Amyloidosis, Familial Visceral	Hepatomegaly, Proteinuria, Splenomegaly, Cholestasis, Hematuria, Nephrotic syndrome, Nephropathy	OMIM:105200
Macs Syndrome	Alopecia, Redundant skin, Sparse eyebrow, Cryptorchidism, Cutis laxa, Sparse hair	OMIM:613075
Hypoparathyroidism, Familial Isolated, 1	Hypoparathyroidism, Cataract, Nephrocalcinosis, Irritability, Hyperphosphatemia, Hypocalcemia, Hy...	OMIM:146200
Short Syndrome	Sparse hair, Excessive wrinkled skin, Alopecia	ORPHA:3163
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly	Hepatomegaly, Cataract, Proteinuria, Glomerulonephritis, Supernumerary nipple, Elevated circulati...	OMIM:614376
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Urethral atresia, Hydronephrosis, Enlarged kidney	OMIM:314390
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome	Absent eyebrow, Alopecia, Sparse scalp hair, Sparse eyelashes, Bilateral cryptorchidism, Absent e...	ORPHA:544488
Mu-Heavy Chain Disease	Hepatomegaly, Abnormal B cell count, Bence Jones Proteinuria, Splenomegaly, Lymphadenopathy, Neph...	ORPHA:100024
Lethal Congenital Contracture Syndrome 7	Paralysis	OMIM:616286
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome	Abnormal peripheral nerve morphology by anatomical site, Steppage gait, Abnormal peripheral myeli...	ORPHA:168563
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Increased circulating ferritin co...	ORPHA:766
Persistent Hyperplastic Primary Vitreous	Glial remnants anterior to the optic disc, Hyaloid vascular remnant and retrolental mass, Remnant...	ORPHA:91495
Naxos Disease	Curly hair, Subungual hyperkeratosis, Acantholysis, Sparse eyebrow, Diffuse palmoplantar hyperker...	OMIM:601214
Adams-Oliver Syndrome	Alopecia, Aplastic/hypoplastic toenail, Hemiparesis, Hypertonia, Absent fingernail, Sparse hair, ...	ORPHA:974
Perry Syndrome	Parkinsonism, Akinesia, Tremor, Rigidity, Bradykinesia, Short stepped shuffling gait	OMIM:168605
Ogden Syndrome	Global glomerulosclerosis, Cardiomegaly, Sparse eyebrow, Thrombocytopenia, Jaundice, Microvesicul...	OMIM:300855
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11	Cerebellar dysplasia, Retinal detachment, Optic nerve hypoplasia, Hypoplasia of the pons, Cerebel...	OMIM:615181
Cholestasis-Lymphedema Syndrome	Hepatomegaly, Portal hypertension, Splenomegaly, Hyperlipidemia, Jaundice, Biliary tract abnormal...	ORPHA:1414
Frontonasal Dysplasia 2	Sparse eyelashes, Alopecia totalis, Bilateral cryptorchidism, Sparse eyebrow, Fine hair, Hypohidr...	OMIM:613451
Beta-Thalassemia	Hepatomegaly, Hypogonadotropic hypogonadism, Abnormal hemoglobin, Microcytic anemia, Thrombocytop...	ORPHA:848
Immunodeficiency 27A	Anorexia, Splenomegaly, Leukocytosis, Lymphadenopathy, Hepatosplenomegaly, Enlarged mesenteric ly...	OMIM:209950
Fibrodysplasia Ossificans Progressiva	Alopecia	OMIM:135100
Oculocerebrocutaneous Syndrome	Cryptorchidism, Alopecia, Abnormal fingernail morphology, Hemiplegia/hemiparesis	ORPHA:1647
Kaufman Oculocerebrofacial Syndrome	Optic disc pallor, Sparse eyebrow, Microcornea, Hypoplastic labia majora, Astigmatism, Hypocholes...	OMIM:244450
Short Stature, Microcephaly, And Endocrine Dysfunction	Broad-based gait, Ataxia, Cryptorchidism, Dysmetria, Dysdiadochokinesis, Gait disturbance, Apraxi...	OMIM:616541
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome	Abnormal eyebrow morphology, Alopecia, Streak ovary, Sparse facial hair, Sparse eyebrow, Cryptorc...	ORPHA:2232
Red Cell Phospholipid Defect With Hemolysis	Splenomegaly, Reticulocytosis, Hyperbilirubinemia, Intermittent jaundice	OMIM:179700
Limb-Mammary Syndrome	Alopecia, Absent nipple, Sparse eyebrow, Hypohidrosis, Bilateral breast hypoplasia, Breast aplasi...	ORPHA:69085
Leprechaunism	Hepatomegaly, Enlarged ovaries, Clitoral hypertrophy, Overgrowth of external genitalia, Labial hy...	ORPHA:508
Splenoportal Vascular Anomalies	Anomalous splenoportal venous system, Splenomegaly, Hyperammonemia, Hepatic fibrosis, Cirrhosis, ...	OMIM:271500
Cholesteryl Ester Storage Disease	Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Bone-marrow foam cel...	OMIM:278000
Johanson-Blizzard Syndrome	Alopecia, Abnormal hair pattern, Exocrine pancreatic insufficiency	ORPHA:2315
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Alopecia, Psoriasiform lesion	ORPHA:169154
Scarf Syndrome	Cryptorchidism, Cutis laxa, Low posterior hairline, Hypoplastic nipples, Sparse hair	ORPHA:3134
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome	Decreased testicular size, Sparse body hair	ORPHA:2234
Apolipoprotein C-Ii Deficiency	Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increased circulating chylomicron concentration...	OMIM:207750
Mandibuloacral Dysplasia With Type A Lipodystrophy	Abnormal eyebrow morphology, Alopecia, Absent eyelashes, Lack of skin elasticity, Breast aplasia	ORPHA:90153
Variegate Porphyria	Paralysis	OMIM:176200
Coloboma, Ocular, Autosomal Dominant	Optic nerve aplasia, Remnants of the hyaloid vascular system, Corneal opacity, Morning glory anom...	OMIM:120200
Sporadic Adult-Onset Ataxia Of Unknown Etiology	Resting tremor, Ataxia, Parkinsonism, Akinesia, Rigidity, Babinski sign, Gait ataxia, Dysdiadocho...	ORPHA:247234
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt...	ORPHA:251380
Wagro Syndrome	Decreased testicular size, Cataract, Corneal opacity, Proteinuria, Aggressive behavior, Agitation...	OMIM:612469
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss	Splenomegaly, Jaundice, Cholestasis, Hepatic fibrosis, Hypocalcemia, Hepatic bridging fibrosis, E...	OMIM:619658
Congenital Myopathy 9A	Cryptorchidism, Tongue fasciculations, Akinesia	OMIM:618822
Bartsocas-Papas Syndrome	Hypoplastic toenails, Sparse or absent eyelashes, Alopecia totalis, Aplasia/Hypoplasia of the eye...	ORPHA:1234
Vitreoretinal Degeneration, Snowflake Type	Retinal detachment, Cataract, Snowflake vitreoretinal degeneration, Optically empty vitreous, Ret...	OMIM:193230
49,Xyyyy Syndrome	External genital hypoplasia, Abnormality of the testis size, Impulsivity, Increased circulating g...	ORPHA:99330
Primary Angiitis Of The Central Nervous System	Ataxia, Parkinsonism, Paralysis, Paraparesis, Hemiparesis, Tetraparesis	ORPHA:140989
Neuraminidase Deficiency	Hepatomegaly, Cataract, Urinary excretion of sialylated oligosaccharides, Proteinuria, Bone-marro...	OMIM:256550
Fish-Eye Disease	Decreased HDL cholesterol concentration, Hepatomegaly, Corneal opacity, Splenomegaly, Lymphadenop...	ORPHA:79292
Trichorhinophalangeal Syndrome, Type Iii	Sparse hair, Sparse lateral eyebrow	OMIM:190351
Lethal Acantholytic Erosive Disorder	Absent eyebrow, Acantholysis, Absent eyelashes, Absent toenail, Absent fingernail, Congenital alo...	ORPHA:158687
Autosomal Recessive Cutis Laxa Type 2, Classic Type	Redundant neck skin, Thick hair, Redundant skin, Cutis laxa, Excessive wrinkled skin, Coarse hair...	ORPHA:357074
Mitochondrial Dna-Associated Leigh Syndrome	Ataxia, Segmental peripheral demyelination/remyelination, Chorea, Optic atrophy, Gait ataxia, Pig...	ORPHA:255210
Borjeson-Forssman-Lehmann Syndrome	Sparse hair, Cryptorchidism, Decreased testicular size, Thick eyebrow	ORPHA:127
Aceruloplasminemia	Torticollis, Ataxia, Parkinsonism, Akinesia, Involuntary movements, Tremor, Rigidity, Chorea, Abn...	ORPHA:48818
Oculoskeletodental Syndrome	Hepatomegaly, Renal agenesis, Hypercalcemia, Splenomegaly, Cryptorchidism, Low anterior hairline,...	OMIM:618440
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Alopecia, Hypothyroidism	OMIM:304790
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome	Absent eyebrow, Alopecia, Absent eyelashes, Cryptorchidism, Small nail	ORPHA:166035
Harderoporphyria	Hepatomegaly, Hemolytic anemia, Reticulocytosis, Increased urine harderoporphyrin level, Increase...	OMIM:618892
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Sparse hair	OMIM:614105
Glutaric Acidemia I	Choreoathetosis, Symmetrical progressive peripheral demyelination, Delayed myelination	OMIM:231670
Papillon-Lefèvre Syndrome	Abnormal fingernail morphology, Palmoplantar hyperkeratosis, Palmoplantar keratoderma, Nail dystr...	ORPHA:678
Cardiofaciocutaneous Syndrome	Brittle hair, Slow-growing hair, Redundant skin, Abnormal eyelash morphology, Cryptorchidism, Low...	ORPHA:1340
Meacham Syndrome	Accessory spleen, Septate vagina, Male pseudohermaphroditism, Horseshoe kidney, Blind vagina, Bic...	OMIM:608978
Microcephaly, Developmental Delay, And Brittle Hair Syndrome	Broad-based gait, Brittle hair, Poor coordination, Abnormal pyramidal sign, Fine hair, Ankle clon...	OMIM:618891
Erythroleukemia, Familial, Susceptibility To	Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thro...	OMIM:133180
Cockayne Syndrome A	Cerebellar atrophy, Retinal atrophy, Ataxia, Abnormal peripheral myelination, Abnormal auditory e...	OMIM:216400
49,Xxxyy Syndrome	External genital hypoplasia, Abnormality of the testis size, Increased circulating gonadotropin l...	ORPHA:261534
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2	Sparse hair, Hyperconvex nail	OMIM:619721
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease	Alopecia, Striae distensae, Pituitary adenoma, Primary hyperparathyroidism, Increased circulating...	ORPHA:189427
Carney Complex	Hepatocellular carcinoma, Leydig cell neoplasia, Abnormal sperm motility, Ovarian serous cystaden...	ORPHA:1359
Adiposis Dolorosa	Sparse axillary hair, Sparse pubic hair, Xerostomia, Dry skin, Hypothyroidism	ORPHA:36397
Molybdenum Cofactor Deficiency, Complementation Group B	Axonal loss, Gliosis, Peripheral demyelination	OMIM:252160
Trichorhinophalangeal Syndrome Type 1	Sparse eyelashes, Sparse eyebrow, Leukonychia, Sparse hair, Fragile nails	ORPHA:77258
Snakebite Envenomation	Paralysis, Erythema, Pseudobulbar paralysis, Respiratory paralysis, Ecchymosis, Hypopituitarism	ORPHA:449285
Intellectual Developmental Disorder, Autosomal Dominant 66	Sparse hair	OMIM:619910
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Short attention span, Broad-based gait, Ataxia, Delayed myelination, Neurofibroma, Diminished abi...	OMIM:619475
Leigh Syndrome	Alopecia, Ataxia, Involuntary movements, Chorea, Spastic diplegia, Spasticity, Choreoathetosis, A...	ORPHA:506
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Hepatomegaly, Anisocytosis, Conjugated hyperbilirubinemia, Increased circulating ferritin concent...	OMIM:616860
Oligodontia-Colorectal Cancer Syndrome	Sparse scalp hair, Absent eyebrow, Sparse axillary hair, Short eyelashes, Sparse body hair	OMIM:608615
Beta-Thalassemia, Dominant Inclusion Body Type	Hepatomegaly, Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Ery...	OMIM:603902
Trichorhinophalangeal Syndrome, Type I	Slow-growing hair, Thin nail, Concave nail, Leukonychia, Fine hair, Thin eyebrow, Sparse hair, Sp...	OMIM:190350
Neutral Lipid Storage Disease With Ichthyosis	Alopecia, Ataxia, Difficulty walking	ORPHA:98907
Molybdenum Cofactor Deficiency, Complementation Group A	Axonal loss, Gliosis, Peripheral demyelination	OMIM:252150
X-Linked Adrenoleukodystrophy	Incoordination, Paralysis, Paraparesis, Progressive spastic paraparesis, Clumsiness, Hemiparesis,...	ORPHA:43
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Polycystic kidney dysplasia, Ambiguous genitalia, Micropenis, Renal dysplasia, Enlarged kidney	OMIM:613091
Gapo Syndrome	Alopecia, Sparse eyelashes, Redundant skin, Sparse eyebrow, Hypoplastic nipples, Nail dysplasia, ...	OMIM:230740
Bile Acid Synthesis Defect, Congenital, 5	Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Iron deficiency anemia, Portal fibrosi...	OMIM:616278
Mandibuloacral Dysplasia	Sparse hair, Alopecia, Hypoplastic fingernail	ORPHA:2457
Chromosome 5P13 Duplication Syndrome	Sparse hair, Low posterior hairline	OMIM:613174
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Thyroiditis, Patchy alopecia, Scaling skin, Hypothyroidism, Alopecia universalis	OMIM:606367
Chondrodysplasia Punctata, Autosomal Dominant	Sparse hair, Hyperkeratosis with erythema, Coarse hair	OMIM:118650
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hyponatremia, Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Increa...	OMIM:267700
Chromosome 19Q13.11 Deletion Syndrome, Distal	Sparse eyelashes, Sparse eyebrow, Cryptorchidism, Nail dysplasia, Sparse hair, Dry skin	OMIM:613026
Wilson Disease	Hepatomegaly, Abnormality of the menstrual cycle, Aggressive behavior, Thrombocytopenia, Splenome...	ORPHA:905
Celiac Disease, Susceptibility To, 1	Alopecia, Ataxia, Thyroiditis	OMIM:212750
Cahmr Syndrome	Generalized hypertrichosis	OMIM:211770
Kid Syndrome	Sparse eyelashes, Sparse eyebrow, Scarring alopecia of scalp, Hypohidrosis, Trichilemmoma, Palmop...	ORPHA:477
Walker-Warburg Syndrome	Retinal detachment, Hypoplasia of penis, Cataract, Retinal dystrophy, Chorioretinal dysplasia, Co...	ORPHA:899
Mandibuloacral Dysplasia With Type B Lipodystrophy	Sparse hair, Alopecia, Brittle hair	OMIM:608612
Micro Syndrome	Abnormality of retinal pigmentation, Hypoplasia of penis, Cataract, Cryptorchidism, Hypoplastic l...	ORPHA:2510
Biotinidase Deficiency	Lethargy, Alopecia, Ataxia, Spastic paraparesis	ORPHA:79241
Porphyria Due To Ala Dehydratase Deficiency	Hyponatremia, Restlessness, Abnormal erythrocyte enzyme level, Abnormal circulating porphyrin con...	ORPHA:100924
Epidermolysis Bullosa Dystrophica, Autosomal Recessive	Alopecia, Nail dystrophy, Nail dysplasia	OMIM:226600
Progeria-Short Stature-Pigmented Nevi Syndrome	Neoplasm of the pancreas, Alopecia, Broad-based gait, Low posterior hairline	ORPHA:2959
Cystic Echinococcosis	Abnormal peritoneum morphology, Hepatomegaly, Hepatic cysts, Eosinophilia, Abnormality of the tes...	ORPHA:400
Vitamin D-Dependent Rickets, Type 2A	Difficulty walking, Secondary hyperparathyroidism, Alopecia universalis	OMIM:277440
Anterior Segment Dysgenesis 8	Iridodonesis, Cataract, Ectopia lentis, Uveal ectropion, Optic nerve dysplasia, Hypoplasia of the...	OMIM:617319
Norrie Disease	Retinal detachment, Cataract, Corneal opacity, Aggressive behavior, Optic atrophy, Leukocoria, Hy...	OMIM:310600
Mucopolysaccharidosis, Type Iiib	Hepatomegaly, Hyperactivity, Cardiomegaly, Heparan sulfate excretion in urine, Splenomegaly, Syno...	OMIM:252920
Multiple Sulfatase Deficiency	Hepatomegaly, Abnormality of retinal pigmentation, Cataract, Corneal opacity, Splenomegaly, Optic...	ORPHA:585
Scarf Syndrome	Cryptorchidism, Low anterior hairline, Low posterior hairline, Cutis laxa, Hypoplastic nipples, S...	OMIM:312830
Autosomal Dominant Hypocalcemia	Alopecia, Abnormal fingernail morphology, Dry skin, Abnormality of the nail, Cortical myoclonus	ORPHA:428
Acrodermatitis Enteropathica, Zinc-Deficiency Type	Hepatomegaly, Splenomegaly, Irritability, Decreased serum zinc, Hypogonadism, Emotional lability,...	OMIM:201100
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige	Sparse hair, Palmoplantar keratoderma, Orthokeratosis, Acantholysis	OMIM:615508
Marshall Syndrome	Sparse hair, Sparse eyelashes, Sparse eyebrow, Hypohidrosis	ORPHA:560
Congenital Disorder Of Glycosylation, Type Iia	Unsteady gait, Hirsutism, Hypertonia, Long eyelashes, Sparse hair, Thick eyebrow	OMIM:212066
Sting-Associated Vasculopathy, Infantile-Onset	Nailfold capillary tortuosity, Erythema, Nail dystrophy, Periungual erythema, Sparse hair	OMIM:615934
Ruijs-Aalfs Syndrome	Premature graying of hair, Sparse hair	OMIM:616200
Kallmann Syndrome With Spastic Paraplegia	Ataxia, Sparse pubic hair, Cryptorchidism, Spastic paraplegia, Testicular atrophy	OMIM:308750
Mogs-Cdg	Alopecia, Hydrocele testis, Long eyelashes, Fair hair, Hypothyroidism, Hirsutism	ORPHA:79330
Hyperlipoproteinemia, Type I	Splenomegaly, Hyperlipidemia, Jaundice, Hepatosplenomegaly, Lactescent serum, Increased circulati...	OMIM:238600
Bainbridge-Ropers Syndrome	Highly arched eyebrow, Supernumerary nipple, Cryptorchidism, Synophrys, Inability to walk, Hirsut...	OMIM:615485
X-Linked Dominant Chondrodysplasia Punctata	Sparse eyelashes, Abnormal hair pattern, Sparse eyebrow, Scarring alopecia of scalp, Coarse hair,...	ORPHA:35173
Congenital Bile Acid Synthesis Defect Type 4	Giant cell hepatitis, Cataract, Elevated circulating creatine kinase concentration, Depression, P...	ORPHA:79095
Cardiac-Urogenital Syndrome	Accessory spleen, Bifid scrotum, Penoscrotal hypospadias, Unilateral cryptorchidism, Cryptorchidi...	OMIM:618280
Xeroderma Pigmentosum	Alopecia, Ataxia, Cryptorchidism, Erythema, Hyperkeratosis, Abnormality of extrapyramidal motor f...	ORPHA:910
Cardiofaciocutaneous Syndrome 1	Absent eyebrow, Curly hair, Slow-growing hair, Absent eyelashes, Oculomotor apraxia, Low posterio...	OMIM:115150
Exfoliation Syndrome	Cataract, Abnormal lens morphology, Anisocoria, Pseudoexfoliation, Retinal vein occlusion, Pigmen...	OMIM:177650
Transketolase Deficiency	Hepatomegaly, Increased level of ribose in urine, Cataract, Renal cyst, Secondary amenorrhea, Sel...	ORPHA:488618
Cranioectodermal Dysplasia 3	Short nail, Broad nail, Cutis laxa, Fine hair, Sparse hair, Dry skin	OMIM:614099
Hereditary Sensory And Autonomic Neuropathy Type 5	Painless fractures due to injury, Decreased number of small peripheral myelinated nerve fibers, P...	ORPHA:64752
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Cataract, Remnants of the hyaloid vascular system, Corneal opacity, Leukocoria, Retinal nonattach...	OMIM:221900
Mixed Connective Tissue Disease	Alopecia, Xerostomia, Purpura	ORPHA:809
Autoimmune Polyendocrine Syndrome, Type Ii	Alopecia, Hyperthyroidism, Primary adrenal insufficiency, Hypothyroidism, Exocrine pancreatic ins...	OMIM:269200
Alpha-Thalassemia	Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Jaundice, ...	ORPHA:846
Mucopolysaccharidosis, Type Iiic	Hepatomegaly, Hyperactivity, Heparan sulfate excretion in urine, Splenomegaly, Synophrys, Coarse ...	OMIM:252930
Oculodentodigital Dysplasia	Curly hair, Brittle hair, Slow-growing hair, Ataxia, Abnormal fingernail morphology, Fine hair, P...	ORPHA:2710
Fatty Acid Hydroxylase-Associated Neurodegeneration	Cerebellar atrophy, Optic atrophy, Progressive gait ataxia, Falls, Mental deterioration, Loss of ...	ORPHA:329308
Gapo Syndrome	Sparse eyebrow, Early balding, Alopecia, Sparse eyelashes	ORPHA:2067
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Decreased HDL cholesterol concentration, Hypoalbuminemia, Hepatic steatosis, Hyperthreoninemia, H...	ORPHA:247598
Cystinosis, Nephropathic	Oral-pharyngeal dysphagia, Aminoaciduria, Renal Fanconi syndrome, Low-molecular-weight proteinuri...	OMIM:219800
Mandibuloacral Dysplasia With Type B Lipodystrophy	Abnormal hair morphology, Alopecia, Nail dystrophy	ORPHA:90154
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Hepatomegaly, Splenomegaly, Pancreatic lymphangiectasis, Abnormal renal morphology, Pulmonary lym...	ORPHA:1655
Chromosome Xp11.3 Deletion Syndrome	Cataract, Cryptorchidism, Posterior subcapsular cataract, Optic atrophy, Pigmentary retinopathy, ...	OMIM:300578
Down Syndrome	Sparse hair, Hypothyroidism, Gait disturbance	ORPHA:870
Encephalocraniocutaneous Lipomatosis	Alopecia, Paralysis, Abnormal eyelash morphology, Rigidity, Tetraplegia, Hemiparesis, Hypertonia,...	ORPHA:2396
Alstrom Syndrome	Hypothyroidism, Alopecia, Multinodular goiter, Decreased response to growth hormone stimulation test	OMIM:203800
Orofaciodigital Syndrome Type 1	Alopecia, Brittle hair, Ataxia, Pancreatic cysts, Tremor, Coarse hair, Sparse hair, Dry skin, Exo...	ORPHA:2750
Monosomy 22	Aplasia of the thymus, Synophrys, Hyperhidrosis, Hypertonia, Sparse hair	ORPHA:96123
Alpha-Mannosidosis, Adult Form	Optic disc pallor, Pancytopenia, Cataract, Corneal opacity, Hepatosplenomegaly, Oligosacchariduri...	ORPHA:309288
Intermediate Uveitis	Cataract, Macular scar, Vitreous haze, Epiretinal membrane, Vitreous floaters, Band keratopathy, ...	ORPHA:279914
Dyskeratosis Congenita, Digenic	Nail dystrophy, Alopecia, Sparse eyelashes, Decreased testicular size	OMIM:620040
Intellectual Developmental Disorder, X-Linked, Syndromic 33	Ataxia, Tremor, Synophrys, Spastic diplegia, Gait disturbance, Gait imbalance, Sparse hair, Spast...	OMIM:300966
Familial Cervical Artery Dissection	Striae distensae, Paralysis	ORPHA:36382
Peroxisome Biogenesis Disorder 5A (Zellweger)	Conjugated hyperbilirubinemia, Renal cyst, Intrahepatic biliary dysgenesis, Hepatomegaly, Hypospa...	OMIM:614866
Adult Syndrome	Sparse scalp hair, Absent nipple, Fair hair, Sparse axillary hair, Nail pits, Dry skin, Hypoplast...	OMIM:103285
Bone Marrow Failure Syndrome 3	Pancreatic steatosis, Cryptorchidism, Hyperkeratosis, Nail dystrophy, Small nail, Hyperechogenic ...	OMIM:617052
Hyperlipoproteinemia, Type Id	Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Pancre...	OMIM:615947
Schimmelpenning-Feuerstein-Mims Syndrome	Alopecia	OMIM:163200
Aredyld Syndrome	Sparse body hair, Aplasia/Hypoplasia of the eyebrow	ORPHA:1133
Hallermann-Streiff Syndrome	Alopecia, Sparse eyelashes, Abnormality of hair texture, Sparse eyebrow, Cryptorchidism, Sparse h...	ORPHA:2108
Hepatoportal Sclerosis	Portal hypertension, Nodular regenerative hyperplasia of liver, Portal vein thrombosis, Hypersple...	ORPHA:64743
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	Hyponatremia, Calcinosis, Cataract, Splenomegaly, Optic atrophy, Renal hypoplasia, Nephrocalcinos...	OMIM:617913
Woodhouse-Sakati Syndrome	Alopecia, Fine hair, Choreoathetosis, Abnormality of extrapyramidal motor function, Sparse hair, ...	OMIM:241080
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness	Hypertonia, Hypothyroidism, Spastic tetraplegia, Akinesia	OMIM:619147
Weaver Syndrome	Deep-set nails, Thin nail, Cryptorchidism, Slurred speech, Fine hair, Hydrocele testis, Cutis lax...	OMIM:277590
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects	Alopecia, Parakeratosis, Erythema, Hyperkeratosis, Small nail, Orthokeratosis, Thyroid hypoplasia	OMIM:308050
Parkinson Disease 23, Autosomal Recessive Early-Onset	Resting tremor, Parkinsonism, Akinesia, Rigidity, Abnormal pyramidal sign, Spasticity	OMIM:616840
Rothmund-Thomson Syndrome, Type 2	Absent eyebrow, Alopecia, Sparse scalp hair, Sparse eyelashes, Absent eyelashes, Cryptorchidism, ...	OMIM:268400
Mitochondrial Complex Iv Deficiency, Nuclear Type 5	Cerebellar vermis hypoplasia, Ataxia, Dysmetria, Gliosis, Truncal ataxia, CNS demyelination, Peri...	OMIM:220111
Ifap Syndrome 1, With Or Without Bresheck Syndrome	Absent eyebrow, Alopecia, Sparse scalp hair, Subungual hyperkeratosis, Perianal erythema, Absent ...	OMIM:308205
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy	Retinal detachment, Cataract, Retinal dystrophy, Macular atrophy, Corneal scarring, Buphthalmos, ...	OMIM:212550
Hawkinsinuria	Sparse hair	OMIM:140350
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome	Alopecia, Decreased circulating cortisol level, Alopecia totalis, Decreased response to growth ho...	ORPHA:293978
Nestor-Guillermo Progeria Syndrome	Sparse scalp hair, Alopecia, Sparse eyelashes, Sparse eyebrow, Nail dystrophy, Dry skin	OMIM:614008
Woodhouse-Sakati Syndrome	Alopecia, Streak ovary, Decreased response to growth hormone stimulation test, Choreoathetosis, S...	ORPHA:3464
Anemia, Congenital Dyserythropoietic, Type Iv	Decreased hemoglobin concentration, Circulating nucleated red blood cells, Anisocytosis, Erythroi...	OMIM:613673
Sickle Cell Disease	Hemolytic anemia, Hepatomegaly, Renal insufficiency, Cardiomegaly, Splenomegaly, Jaundice, Leukoc...	OMIM:603903
Pediatric Systemic Lupus Erythematosus	Hemiplegia, Alopecia	ORPHA:93552
Charcot-Marie-Tooth Disease Type 4B2	Decreased distal sensory nerve action potential, Inability to walk, Optic atrophy, Distal sensory...	ORPHA:99956
Caroli Disease	Liver abscess, Cholangitis, Anorexia, Conjugated hyperbilirubinemia, Hepatic fibrosis, Hepatomega...	ORPHA:53035
Heterotaxy, Visceral, 1, X-Linked	Hepatomegaly, Renal agenesis, Cardiomegaly, Asplenia, Biliary atresia, Horseshoe kidney, Abdomina...	OMIM:306955
Proteus-Like Syndrome	Retinal detachment, Thymus hyperplasia, Cataract, Splenomegaly, Abnormal pupil morphology, Abnorm...	ORPHA:2969
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2	Sparse hair, Cutis laxa, Dermal translucency	OMIM:615349
Cartilage-Hair Hypoplasia	Sparse eyelashes, Sparse facial hair, Sparse eyebrow, Fine hair, Sparse hair, Fair hair	OMIM:250250
Oculodentodigital Dysplasia	Dry hair, Slow-growing hair, Ataxia, Paraparesis, Fine hair, Tetraparesis, Sparse hair, Spasticit...	OMIM:164200
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type	Cryptorchidism, Babinski sign, Lower limb hypertonia, Patchy alopecia, Shuffling gait, Cholelithi...	OMIM:300534
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis	Waddling gait, Nail dysplasia, Small nail, Sparse hair, Breast hypoplasia	OMIM:614813
Immunodeficiency 97 With Autoinflammation	Autoimmune hemolytic anemia, Hypertriglyceridemia, Decreased proportion of CD4+CD25+ regulatory T...	OMIM:619802
Glycogen Storage Disease Of Heart, Lethal Congenital	Cataract, Ascites, Enlarged kidney, Cardiomegaly	OMIM:261740
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly	Sparse hair, Nail dysplasia, Aplasia/Hypoplasia of the eyebrow, Fine hair	OMIM:614091
Dyskeratosis Congenita, X-Linked	Ridged nail, Split nail, Alopecia, Sparse eyelashes, Ataxia, Cryptorchidism, Pterygium of nails, ...	OMIM:305000
De Barsy Syndrome	Cryptorchidism, Cutis laxa, Athetosis, Progressive cerebellar ataxia, Excessive wrinkled skin, Sp...	ORPHA:2962
Bardet-Biedl Syndrome 1	Decreased testicular size, Bone spicule pigmentation of the retina, Cataract, Retinal dystrophy, ...	OMIM:209900
Scalp-Ear-Nipple Syndrome	Sparse axillary hair, Sparse pubic hair, Fine hair, Hypohidrosis, Patchy alopecia, Breast aplasia...	OMIM:181270
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement	Lower limb spasticity, Broad-based gait, Cryptorchidism, Fine hair, Hypertonia, Sparse hair, Decr...	ORPHA:251028
Systemic Sclerosis	Alopecia, Nail bed telangiectasia, Digital ulcer, Hypohidrosis, Acral ulceration	ORPHA:90291
Chops Syndrome	Curly hair, Cataract, Thick hair, Splenomegaly, Synophrys, Cryptorchidism, Optic atrophy, Horsesh...	OMIM:616368
Autosomal Dominant Keratitis	Hypoplasia of the fovea, Cataract, Keratitis, Abnormal corneal limbus morphology, Microcornea, Ma...	ORPHA:2334
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Hepatomegaly, Reticulocytosis, Increased circulating ferritin concentration, Splenomegaly, Jaundi...	OMIM:194380
Retinitis Pigmentosa With Or Without Skeletal Anomalies	Sparse eyelashes, Sparse eyebrow, Small nail, Sparse hair, High anterior hairline	OMIM:250410
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency	Alopecia, Decreased circulating cortisol level, Testicular adrenal rest tumor, Polycystic ovaries...	ORPHA:90795
Nicolaides-Baraitser Syndrome	Absent eyebrow, Dry hair, Sparse scalp hair, Cryptorchidism, Low anterior hairline, Low posterior...	OMIM:601358
Glass Syndrome	Sparse hair, Broad-based gait, Long eyelashes, Nail dysplasia	OMIM:612313
Amyotrophic Lateral Sclerosis	Amyotrophic lateral sclerosis, Paralysis, Motor neuron atrophy, Xerostomia, Spasticity	ORPHA:803
Spinocerebellar Ataxia Type 3	Vocal cord paralysis, Abnormal pyramidal sign, Clumsiness, Progressive cerebellar ataxia, Abnorma...	ORPHA:98757
Beta-Thalassemia Intermedia	Hypoparathyroidism, Hepatomegaly, Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Anemia...	ORPHA:231222
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form	Alopecia, Erythema, Palmoplantar keratoderma, Nail dystrophy, Onychogryposis	ORPHA:79396
Scalp-Ear-Nipple Syndrome	Sparse hair, Abnormal fingernail morphology, Breast aplasia, Hypohidrosis	ORPHA:2036
Blindness-Scoliosis-Arachnodactyly Syndrome	Retinal detachment, Abnormality of retinal pigmentation, Cataract, Lens subluxation, Microphakia	ORPHA:171844
Sitosterolemia 1	Reticulocytosis, Hyperapobetalipoproteinemia, Elevated circulating sitosterol concentration, Thro...	OMIM:210250
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Hepatomegaly, Thyroid lymphangiectasia, Splenomegaly, Pancreatic lymphangiectasis, Cryptorchidism...	OMIM:235255
Ablepharon Macrostomia Syndrome	Absent eyebrow, Redundant skin, Abnormal hair pattern, Absent eyelashes, Fine hair, Excessive wri...	ORPHA:920
Gaucher Disease, Perinatal Lethal	Akinesia, Opisthotonus, Hyperkeratosis, Petechiae, Purpura	OMIM:608013
Pyruvate Kinase Deficiency Of Red Cells	Reticulocytosis, Decreased hemoglobin concentration, Hepatomegaly, Reduced red cell pyruvate kina...	OMIM:266200
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Hepatomegaly, Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Dysmenorr...	ORPHA:264580
Omenn Syndrome	Alopecia, Hypoplasia of the thymus	OMIM:603554
Juvenile Dermatomyositis	Alopecia, Dry skin, Erythema, Skin ulcer	ORPHA:93672
Hereditary Late-Onset Parkinson Disease	Resting tremor, Parkinsonism, Akinesia, Rigidity, Bradykinesia, Shuffling gait, Parkinsonism with...	ORPHA:411602
Cholestasis, Progressive Familial Intrahepatic, 3	Hepatomegaly, Splenomegaly, Jaundice, Intrahepatic cholestasis, Portal inflammation, Portal fibro...	OMIM:602347
Hemophagocytic Lymphohistiocytosis, Familial, 2	Hyponatremia, Hepatomegaly, Pancytopenia, Hypertriglyceridemia, Increased circulating ferritin co...	OMIM:603553
Ornithine Transcarbamylase Deficiency	Splenomegaly, Aminoaciduria, Hyperammonemia	ORPHA:664
Osteopetrosis, Autosomal Recessive 4	Reticulocytosis, Hepatomegaly, Optic disc pallor, Splenomegaly, Thrombocytopenia, Optic atrophy, ...	OMIM:611490
Norrie Disease	Sclerocornea, Abnormal pupil morphology, Hypoplasia of the iris, Uterine rupture, Abnormal repeti...	ORPHA:649
Oculoauricular Syndrome	Cone/cone-rod dystrophy, Retinal detachment, Posterior embryotoxon, Cataract, Morning glory anoma...	OMIM:612109
Encephalocraniocutaneous Lipomatosis	Cryptorchidism, Alopecia	OMIM:613001
Neuromuscular Oculoauditory Syndrome	Decreased nerve conduction velocity, Chorioretinal lacunae, Retinal pigment epithelial mottling, ...	OMIM:618733
Dpagt1-Cdg	Ataxia, Akinesia, Tremor, Inability to walk, Hypertonia, Hypertrichosis	ORPHA:86309
Alagille Syndrome 1	Multiple small medullary renal cysts, Microcornea, Vesicoureteral reflux, Abnormal anterior chamb...	OMIM:118450
Neuropathy, Hereditary Sensory And Autonomic, Type Iia	Decreased number of peripheral myelinated nerve fibers, Decreased sensory nerve conduction veloci...	OMIM:201300
Ectopia Lentis Et Pupillae	Retinal detachment, Cataract, Ectopia lentis, Iris transillumination defect, Ectopia pupillae, Pe...	OMIM:225200
Basel-Vanagaite-Smirin-Yosef Syndrome	Sparse hair, Spasticity	OMIM:616449
Hamamy Syndrome	Hypoparathyroidism, Sparse eyelashes, Sparse eyebrow, Cryptorchidism, Low posterior hairline, Spa...	OMIM:611174
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Hepatomegaly, Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Dysmenorr...	ORPHA:79240
Ectodermal Dysplasia And Immunodeficiency 1	Sparse hair, Aplasia of the eccrine sweat glands	OMIM:300291
Osteogenesis Imperfecta, Type Xx	Sparse hair, Highly arched eyebrow, Sparse lateral eyebrow	OMIM:618644
8P11.2 Deletion Syndrome	Hemolytic anemia, Hypoplasia of penis, Retinal dystrophy, Hypogonadotropic hypogonadism, Splenome...	ORPHA:251066
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome	Sparse body hair	ORPHA:3068
Nablus Mask-Like Facial Syndrome	Sparse eyelashes, Highly arched eyebrow, Absent eyelashes, Cryptorchidism, Sparse eyebrow, Low an...	OMIM:608156
Microphthalmia, Syndromic 5	Ectopic posterior pituitary, Cataract, Retinal dystrophy, Optic nerve hypoplasia, Cryptorchidism,...	OMIM:610125
Aspartylglucosaminuria	Hepatomegaly, Cataract, Aspartylglucosaminuria, Vacuolated lymphocytes, Neutropenia, Macroorchidism	OMIM:208400
Phakomatosis Pigmentokeratotica	Cryptorchidism, Hyperhidrosis, Hemiparesis, Patchy alopecia, Pheochromocytoma	ORPHA:2874
Hallermann-Streiff Syndrome	Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Cryptorchidism, Fine hair, Choreoathetosis, ...	OMIM:234100
Thyrotoxic Periodic Paralysis, Susceptibility To, 2	Increased circulating free T4 concentration, Hyperthyroidism, Periodic paralysis, Tremor, Increas...	OMIM:613239
Lmna-Related Cardiocutaneous Progeria Syndrome	Absent eyebrow, Absent eyelashes, Premature graying of hair, Sparse hair, Premature skin wrinklin...	ORPHA:363618
Anemia, Congenital Dyserythropoietic, Type Ii	Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Cholelithiasis	OMIM:224100
Immunodeficiency 7	Patchy alopecia	OMIM:615387
Distal Deletion 19P	Alopecia, Thick eyebrow	ORPHA:96129
Glycogen Storage Disease Ixc	Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Bile duct proliferation, Cirrhosis, Increased h...	OMIM:613027
Mitochondrial Complex I Deficiency, Nuclear Type 28	Lower limb spasticity, Akinesia, Abnormal pyramidal sign, Choreoathetosis, Truncal ataxia	OMIM:618249
Chondrodysplasia Punctata 2, X-Linked Dominant	Sparse hair, Patchy alopecia, Sparse eyelashes, Sparse eyebrow	OMIM:302960
Simpson-Golabi-Behmel Syndrome, Type 1	Hepatomegaly, Hypospadias, Short nail, Supernumerary nipple, Splenomegaly, Cryptorchidism, Hypert...	OMIM:312870
Morning Glory Disc Anomaly	Retinal detachment, Optic disc coloboma, Abnormality of retinal pigmentation, Cataract	ORPHA:35737
Alport Syndrome 2, Autosomal Recessive	Renal insufficiency, Cataract, Proteinuria, Glomerular basement membrane lamellation, Corneal ero...	OMIM:203780
Macrophage Activation Syndrome	Hepatomegaly, Hypertriglyceridemia, Elevated circulating C-reactive protein concentration, Increa...	ORPHA:158061
Machado-Joseph Disease Type 3	Abnormal lower motor neuron morphology, Facial-lingual fasciculations, Babinski sign, Vocal cord ...	ORPHA:276244
Mitochondrial Complex Iii Deficiency, Nuclear Type 10	Cholelithiasis, Alopecia totalis	OMIM:618775
Knobloch Syndrome	Retinal detachment, Cataract, Ectopia lentis, Abnormal hair morphology, Abnormal vitreous humor m...	ORPHA:1571
Rothmund-Thomson Syndrome Type 1	Plantar hyperkeratosis, Alopecia totalis, Cryptorchidism, Facial erythema, Sparse or absent eyela...	ORPHA:221008
Cerebral Cavernous Malformations 3	Paralysis	OMIM:603285
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Absent eyebrow, Alopecia, Thin fingernail, Abnormal eyelash morphology, Cryptorchidism, Abnormal ...	ORPHA:2273
Pmp22-Rai1 Contiguous Gene Duplication Syndrome	Decreased number of peripheral myelinated nerve fibers, Broad-based gait, Decreased nerve conduct...	ORPHA:477817
Hypokalemic Periodic Paralysis	Periodic hypokalemic paresis, Respiratory paralysis, Paralysis	ORPHA:681
Cockayne Syndrome B	Ataxia, Cerebellar calcifications, Abnormal peripheral myelination, Abnormal auditory evoked pote...	OMIM:133540
Dehydrated Hereditary Stomatocytosis 2	Hepatomegaly, Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Increase...	OMIM:616689
Dehydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Polycythemia, Anemia of inadequate producti...	ORPHA:3202
Oculodentodigital Dysplasia, Autosomal Recessive	Sparse hair, Sparse eyelashes, Fine hair	OMIM:257850
Rothmund-Thomson Syndrome	Plantar hyperkeratosis, Sparse eyelashes, Alopecia totalis, Sparse eyebrow, Small nail, Nail dysp...	ORPHA:2909
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Normocytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Normochromic anemia, Cholecystitis, H...	OMIM:235700
Fuchs Heterochromic Iridocyclitis	Anterior chamber inflammatory cells, Papilledema, Optic disc pallor, Iris atrophy, Cataract, Reti...	ORPHA:263479
Secondary Intestinal Lymphangiectasia	Lymphopenia, Reduced circulating transferrin concentration, Chylous ascites, Hypoalbuminemia, Cir...	ORPHA:90363
Werner Syndrome	Abnormality of retinal pigmentation, Renal neoplasm, Cataract, Sparse scalp hair, Abnormal hair w...	ORPHA:902
Arthrogryposis Multiplex Congenita 6	Akinesia	OMIM:619334
Fetal Akinesia Deformation Sequence	Cryptorchidism, Akinesia	ORPHA:994
Onychotrichodysplasia And Neutropenia	Curly hair, Curly eyelashes, Concave nail, Sparse pubic hair, Short eyelashes, Trichorrhexis nodo...	OMIM:258360
Spastic Paraplegia-Neuropathy-Poikiloderma Syndrome	Basal lamina onion bulb formation, Spastic gait, Demyelinating peripheral neuropathy	ORPHA:2821
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Retinal detachment, Cataract, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, El...	OMIM:614643
African Trypanosomiasis	Alopecia, Abnormal central motor function, Involuntary movements, Akinesia, Paralysis, Tremor, Ab...	ORPHA:3385
Pearson Syndrome	Decreased response to growth hormone stimulation test, Renal cyst, Abnormality of the liver, Hypo...	ORPHA:699
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2	Curly hair, Dermal translucency, Slow-growing hair, Highly arched eyebrow, Cryptorchidism, Low po...	OMIM:617506
Hyperparathyroidism, Neonatal Severe	Calcinosis, Hepatomegaly, Hyperphosphaturia, Hypercalcemia, Polyuria, Splenomegaly, Primary hyper...	OMIM:239200
Goldberg-Shprintzen Syndrome	Highly arched eyebrow, Synophrys, Sparse hair, Thick eyebrow, Limb hypertonia	OMIM:609460
Craniolenticulosutural Dysplasia	Sparse hair, Coarse hair, Brittle hair	ORPHA:50814
Meckel Syndrome	Accessory spleen, Ureteral duplication, Multicystic kidney dysplasia, Cataract, Pancreatic fibros...	ORPHA:564
Reese Retinal Dysplasia	Remnants of the hyaloid vascular system, Retinal dysplasia	OMIM:266400
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction	Optic disc pallor, Bone spicule pigmentation of the retina, Cataract, Optic atrophy, Stage 5 chro...	OMIM:268315
Aniridia 2	Cataract, Optic atrophy, Lens subluxation, Aniridia, Iris coloboma	OMIM:617141
Non-Functioning Paraganglioma	Tremor, Episodic hyperhidrosis, Vocal cord paralysis, Pallor	ORPHA:94080
Stromme Syndrome	Accessory spleen, Cataract, Optic nerve hypoplasia, Sclerocornea, Bilateral renal hypoplasia, Mic...	OMIM:243605
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1	Curly hair, Sparse scalp hair, Cryptorchidism, Hyperkeratosis, Loose anagen hair, Long eyelashes,...	OMIM:607721
Mosaic Variegated Aneuploidy Syndrome 2	Sparse hair, Hypothyroidism, Decreased response to growth hormone stimulation test	OMIM:614114
46,Xy Sex Reversal 6	Dysgerminoma, Hirsutism, Sparse axillary hair	OMIM:613762
Aspartylglucosaminuria	Splenomegaly, Hepatomegaly, Aspartylglucosaminuria, Macroorchidism	ORPHA:93
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1	Sparse scalp hair, Absence of Stensen duct, Decreased response to growth hormone stimulation test...	OMIM:129900
Lethal Congenital Contracture Syndrome 2	Akinesia	OMIM:607598
Phosphoribosylpyrophosphate Synthetase Superactivity	Sparse hair, Cryptorchidism, Ataxia	OMIM:300661
Sclerosing Cholangitis, Neonatal	Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Biliary cir...	OMIM:617394
Werner Syndrome	Hypertriglyceridemia, Cataract, Elevated hemoglobin A1c, Hypogonadism, Alopecia of scalp, Retinal...	OMIM:277700
White-Sutton Syndrome	Sparse hair, Waddling gait	OMIM:616364
Neurodegeneration With Brain Iron Accumulation 1	Eyelid apraxia, Ataxia, Parkinsonism, Akinesia, Tremor, Rigidity, Babinski sign, Abnormal pyramid...	OMIM:234200
Linear Nevus Sebaceus Syndrome	Alopecia, Adenoma sebaceum	ORPHA:2612
Autoimmune Hepatitis	Viral hepatitis, Diffuse hepatic steatosis, Glomerulonephritis, Splenomegaly, Fulminant hepatitis...	ORPHA:2137
Tsh-Secreting Pituitary Adenoma	Abnormal hair quantity, Enlarged pituitary gland, Hyperthyroidism, Elevated circulating growth ho...	ORPHA:91347
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Hepatomegaly, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia, Genital ulcers, S...	OMIM:602450
Cockayne Syndrome	Dry hair, Urinary incontinence, Retinal arteriolar constriction, Lentiglobus, Retinal degeneratio...	ORPHA:191
Japanese Encephalitis	Weakness due to upper motor neuron dysfunction, Paralysis, Tremor, Paucity of anterior horn motor...	ORPHA:79139
Opitz-Kaveggia Syndrome	Facial wrinkling, Cryptorchidism, Fine hair, Frontal upsweep of hair, Sparse hair, Spasticity	OMIM:305450
Autoimmune Polyendocrinopathy Type 3	Alopecia, Autoimmune hypoparathyroidism, Xerostomia, Primary adrenal insufficiency, Anterior pitu...	ORPHA:227982
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome	Broad-based gait, Highly arched eyebrow, Palmoplantar hyperkeratosis, Fine hair, Hydrocele testis...	OMIM:280000
Bartsocas-Papas Syndrome 1	Absent eyebrow, Alopecia, Sparse scalp hair, Alopecia totalis, Bilateral cryptorchidism, Absent e...	OMIM:263650
Bile Acid Synthesis Defect, Congenital, 3	Hepatomegaly, Intrahepatic cholestasis, Splenomegaly, Jaundice, Hepatitis, Acholic stools, Bile d...	OMIM:613812
Autoimmune Polyendocrinopathy Type 4	Alopecia, Primary adrenal insufficiency, Xerostomia, Anterior pituitary dysgenesis, Graves diseas...	ORPHA:227990
Cockayne Syndrome Type 3	Dry hair, Microcornea, Premature graying of hair, Lentiglobus, Retinal degeneration, Hepatomegaly...	ORPHA:90324
Porphyria, Congenital Erythropoietic	Absent eyebrow, Alopecia, Loss of eyelashes, Cholelithiasis, Hypertrichosis	OMIM:263700
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Hepatomegaly, Increased circulating thyroglobulin level, Portal hypertension, Pancreatic cysts, S...	OMIM:610199
Rothmund-Thomson Syndrome Type 2	Plantar hyperkeratosis, Alopecia totalis, Cryptorchidism, Erythema, Facial erythema, Sparse or ab...	ORPHA:221016
Tubulointerstitial Nephritis And Uveitis Syndrome	Normocytic anemia, Choroidal neovascularization, Elevated circulating C-reactive protein concentr...	ORPHA:91500
Mandibuloacral Dysplasia With Type A Lipodystrophy	Sparse scalp hair, Alopecia, Onychogryposis	OMIM:248370
Normokalemic Periodic Paralysis	Periodic paralysis	OMIM:170600
Leiomyomatosis, Diffuse, With Alport Syndrome	Renal insufficiency, Cataract, Glomerular basement membrane lamellation, Proteinuria, Thickened g...	OMIM:308940
Atypical Werner Syndrome	Abnormal hair quantity, Alopecia, Abnormal hair morphology, Abnormal hair whorl, Lack of skin ela...	ORPHA:79474
Combined Immunodeficiency-Enteropathy Spectrum	Absent eyebrow, Hypoplasia of the thymus, Nail dystrophy, Sparse hair, Abnormal ductus choledochu...	ORPHA:436252
Wilson Disease	Decreased circulating ceruloplasmin concentration, Aminoaciduria, Hypoalbuminemia, Hepatic steato...	OMIM:277900
Chime Syndrome	Erythema, Skin ulcer, Fine hair, Hyperkeratosis, Sparse hair	ORPHA:3474
Menkes Disease	Hypopigmentation of hair, Chorea, Hypertonia, Sparse hair, Woolly hair, Spasticity, Dry skin	ORPHA:565
Lipodystrophy, Familial Partial, Type 7	Sparse scalp hair, Clonus, Facial wrinkling, Babinski sign, Dysmetria, Gait ataxia, Dysdiadochoki...	OMIM:606721
Bile Acid Synthesis Defect, Congenital, 2	Hepatomegaly, Intrahepatic cholestasis, Jaundice, Splenomegaly, Hyperbilirubinemia, Steatorrhea	OMIM:235555
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Alopecia, Hyperthyroidism, Thyroiditis, Nail dystrophy, Hypothyroidism	ORPHA:37042
T-Cell Lymphoma, Subcutaneous Panniculitis-Like	Pancytopenia, Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, H...	OMIM:618398
Classical-Like Ehlers-Danlos Syndrome Type 2	Cryptorchidism, Alopecia, Redundant skin	ORPHA:536532
Spherocytosis, Type 1	Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Hyperbilirubinemia, Cho...	OMIM:182900
Dent Disease	Elevated circulating creatine kinase concentration, Nephrocalcinosis, Aminoaciduria, Low-molecula...	ORPHA:1652
Congenital Myopathy 12	Akinesia	OMIM:612540
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis	Paralysis, Hypothyroidism, Hashimoto thyroiditis, Goiter	ORPHA:83601
Chediak-Higashi Syndrome	Impaired neutrophil bactericidal activity, Hepatomegaly, Hypopigmentation of hair, Abnormal dense...	OMIM:214500
Stuve-Wiedemann Syndrome 1	Sparse hair, Premature skin wrinkling, Hyperhidrosis	OMIM:601559
Teebi-Shaltout Syndrome	Sparse hair, Low anterior hairline, Highly arched eyebrow, Slow-growing hair	OMIM:272950
Focal Dermal Hypoplasia	Alopecia, Erythema, Abnormality of the nail	ORPHA:2092
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Jaundice, Hemoglobinuria, Prolonged ne...	OMIM:300908
Cerebellar-Facial-Dental Syndrome	Sparse eyebrow, Cryptorchidism, Fine hair, Sparse hair, Limb hypertonia	ORPHA:444072
Normosmic Congenital Hypogonadotropic Hypogonadism	Cryptorchidism, Breast hypoplasia, Hypoplasia of the ovary, Sparse body hair, Decreased testicula...	ORPHA:432
Thyrotoxic Periodic Paralysis, Susceptibility To, 1	Hyperthyroidism, Periodic paralysis, Goiter	OMIM:188580
Multiple Pterygium Syndrome, Lethal Type	Akinesia	OMIM:253290
Lysinuric Protein Intolerance	Sparse hair, Pancreatitis, Cutis laxa, Fine hair	OMIM:222700
Supranuclear Palsy, Progressive, 2	Eyelid apraxia, Postural tremor, Parkinsonism, Akinesia, Rigidity, Bradykinesia, Falls, Gait imba...	OMIM:609454
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Accessory spleen, Hepatomegaly, Hypertriglyceridemia, Macular atrophy, Microvesicular hepatic ste...	OMIM:619418
Glycogen Storage Disease Xii	Normocytic anemia, Hepatomegaly, Elevated circulating creatine kinase concentration, Cholelithias...	OMIM:611881
Colchicine Poisoning	Alopecia	ORPHA:31824
Premature Aging Syndrome, Penttinen Type	Sparse hair, Hyperkeratosis, Palmoplantar hyperkeratosis	OMIM:601812
Trichohepatoenteric Syndrome 1	Curly hair, Brittle hair, Fine hair, Sparse hair, Woolly hair, Trichorrhexis nodosa	OMIM:222470
Foodborne Botulism	Cerebral palsy, Xerostomia, Diaphragmatic paralysis, Paralysis	ORPHA:228371
Machado-Joseph Disease Type 1	Facial-lingual fasciculations, Babinski sign, Vocal cord paralysis, Abnormal pyramidal sign, Clum...	ORPHA:276238
Machado-Joseph Disease Type 2	Facial-lingual fasciculations, Babinski sign, Vocal cord paralysis, Abnormal pyramidal sign, Clum...	ORPHA:276241
Aniridia 1	Hypoplasia of the fovea, Anterior subcapsular cataract, Cataract, Optic nerve hypoplasia, Ectopia...	OMIM:106210
Sympathetic Ophthalmia	Alopecia, Erythema, Poliosis	ORPHA:79098
Insulin-Resistance Syndrome Type B	Alopecia, Enlarged ovaries, Enlarged polycystic ovaries, Polycystic ovaries, Abnormal salivary gl...	ORPHA:2298
Arthrogryposis Multiplex Congenita 5	Premature skin wrinkling, Hypertonia, Akinesia, Hand tremor	OMIM:618947
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects	Hemolytic anemia, Hepatomegaly, Cataract, Conjugated hyperbilirubinemia, Splenomegaly, Jaundice, ...	OMIM:608885
Craniolenticulosutural Dysplasia	Sparse hair, Cryptorchidism, Coarse hair, Brittle hair	OMIM:607812
Amoebic Keratitis	Iris atrophy, Cataract, Abnormal posterior eye segment morphology, Abnormal corneal epithelium mo...	ORPHA:67043
Thyrotoxic Periodic Paralysis	Hyperthyroidism, Thyrotoxicosis with toxic single thyroid nodule, Paralysis, Tremor, Thyrotoxicos...	ORPHA:79102
Hardikar Syndrome	Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Vesicoureteral reflux, Bladder exstr...	OMIM:301068
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Sideroblastic anemia, Brittle hair, Splenomegaly, Schistocytosis, Hypochromic microcytic anemia, ...	OMIM:616084
Wiedemann-Rautenstrauch Syndrome	Sparse scalp hair, Absent eyebrow, Alopecia, Sparse eyelashes, Absent eyelashes, Sparse eyebrow, ...	OMIM:264090
Ablepharon-Macrostomia Syndrome	Absent eyebrow, Redundant skin, Absent eyelashes, Hypoplastic nipples, Sparse hair, Premature ski...	OMIM:200110
Orofaciodigital Syndrome I	Alopecia, Dry hair, Pancreatic cysts, Ovarian cyst, Sparse hair	OMIM:311200
Hypokalemic Periodic Paralysis, Type 2	Periodic paralysis	OMIM:613345
Anemia, Congenital Dyserythropoietic, Type Ia	Hemolytic anemia, Reticulocytosis, Hepatomegaly, Anisocytosis, Anemia of inadequate production, S...	OMIM:224120
Supranuclear Palsy, Progressive, 1	Eyelid apraxia, Parkinsonism, Akinesia, Tremor, Rigidity, Bradykinesia, Falls, Gait imbalance, Re...	OMIM:601104
Familial Mediterranean Fever	Hepatomegaly, Neutrophilia, Elevated circulating C-reactive protein concentration, Orchitis, Sple...	OMIM:249100
Toxin-Mediated Infectious Botulism	Cerebral palsy, Diaphragmatic paralysis, Paralysis	ORPHA:230800
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)	Decreased number of peripheral myelinated nerve fibers, Broad-based gait, Pain insensitivity, Ata...	OMIM:256810
Spherocytosis, Type 4	Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Hyperbilirubinemia	OMIM:612653
Parenteral Nutrition-Associated Cholestasis	Hepatomegaly, Portal hypertension, Conjugated hyperbilirubinemia, Biliary hyperplasia, Hyperlipid...	ORPHA:567983
Hereditary Elliptocytosis	Hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Splenomegaly, Jaundice, Stoma...	ORPHA:288
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome	Akinesia	OMIM:225790
Spherocytosis, Type 2	Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Spherocytosis, Hyperbi...	OMIM:616649
Gm2-Gangliosidosis, Ab Variant	Exaggerated startle response, Spastic tetraparesis, Paralysis, Chorea, Abnormal pyramidal sign, H...	OMIM:272750
Pheochromocytoma/Paraganglioma Syndrome 3	Hyperhidrosis, Extraadrenal pheochromocytoma, Vocal cord paralysis, Adrenal pheochromocytoma	OMIM:605373
Kikuchi-Fujimoto Disease	Enlargement of parotid gland, Alopecia, Erythema, Ataxia	ORPHA:50918
Choreoacanthocytosis	Decreased number of peripheral myelinated nerve fibers, Short attention span, Peripheral axonal n...	ORPHA:2388
Localized Scleroderma	Abnormal skin adnexa morphology, Patchy alopecia, Hashimoto thyroiditis, Erythema	ORPHA:90289
Optic Nerve Hypoplasia, Bilateral	Optic nerve aplasia, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Morning glo...	OMIM:165550
Koolen-De Vries Syndrome Due To A Point Mutation	Speech apraxia, Alopecia, Decreased response to growth hormone stimulation test, Testicular neopl...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Speech apraxia, Alopecia, Decreased response to growth hormone stimulation test, Testicular neopl...	ORPHA:363958
Syndromic Diarrhea	Hepatomegaly, Hypopigmentation of hair, Brittle hair, Increased mean platelet volume, Splenomegal...	ORPHA:84064
Hyperkalemic Periodic Paralysis	Periodic hyperkalemic paralysis, Cerebral palsy, Hypertonia, Gait disturbance, Fasciculations	ORPHA:682
Steinert Myotonic Dystrophy	Alopecia, Decreased response to growth hormone stimulation test, Abnormality of thyroid physiolog...	ORPHA:273
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome	Cryptorchidism, Unsteady gait, Nail dysplasia, Sparse hair, Loss of ambulation	OMIM:616682
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak	Hand tremor, Periodic paralysis	OMIM:609153
Atelis Syndrome 2	Remnants of the hyaloid vascular system, Developmental cataract, Anemia, Vitreous hemorrhage, Att...	OMIM:620185
Lipodystrophy, Congenital Generalized, Type 1	Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Clitoral hypertrophy, Decreased fertility...	OMIM:608594
Chronic Visceral Acid Sphingomyelinase Deficiency	Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Autoimmune thrombocy...	ORPHA:77293
Lipodystrophy, Congenital Generalized, Type 2	Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Clitoral hypertrophy, Elevated hemoglobin...	OMIM:269700
Behcet Syndrome	Erythema, Patchy alopecia	OMIM:109650
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia	Highly arched eyebrow, Cryptorchidism, Fine hair, Low posterior hairline, Sparse hair	OMIM:613563
Restrictive Dermopathy	Short nail, Epidermal hyperkeratosis, Sparse eyebrow, Aplasia/Hypoplastia of the eccrine sweat gl...	ORPHA:1662
Overhydrated Hereditary Stomatocytosis	Hepatomegaly, Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Stomatocytosis, Increase...	OMIM:185000
Relapsing Polychondritis	Alopecia, Erythema, Purpura	ORPHA:728
Trichorhinophalangeal Syndrome, Type Ii	Sparse scalp hair, Bilateral cryptorchidism, Redundant skin in infancy, Dry skin, Hyperhidrosis, ...	OMIM:150230
Oculo-Palato-Cerebral Syndrome	Retinal detachment, Cataract, Remnants of the hyaloid vascular system, Leukocoria	ORPHA:2714
Sporadic Pheochromocytoma/Secreting Paraganglioma	Extraadrenal pheochromocytoma, Tremor, Episodic hyperhidrosis, Vocal cord paralysis, Adrenal pheo...	ORPHA:276621
Spherocytosis, Type 5	Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Abnormal platelet count...	OMIM:612690
Pheochromocytoma/Paraganglioma Syndrome 1	Hyperhidrosis, Extraadrenal pheochromocytoma, Vocal cord paralysis, Adrenal pheochromocytoma	OMIM:168000
Poliomyelitis	Paralysis, Inability to walk, Paraparesis, Hyperkinetic movements, Fasciculations	ORPHA:2912
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii	Alopecia, Rigidity, Cryptorchidism, Loss of eyelashes, Hypertonia, Thin eyebrow, Sparse hair, Spa...	ORPHA:2636
Pseudohypoaldosteronism, Type Iia	Periodic hyperkalemic paralysis, Pseudohypoaldosteronism	OMIM:145260
Marshall-Smith Syndrome	Brittle hair, Highly arched eyebrow, Bilateral cryptorchidism, Cryptorchidism, Synophrys, Hyperto...	OMIM:602535
Gaisböck Syndrome	Hypertriglyceridemia, Splenomegaly, Increased mean corpuscular hemoglobin concentration, Nephroca...	ORPHA:90041
Systemic Lupus Erythematosus	Alopecia, Chorea	ORPHA:536
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Absent nipple, Aplasia of the thymus, Sparse eyebrow, Congenital hypothyroidism, Hydrocele testis...	OMIM:620186
Isolated Biliary Atresia	Hepatomegaly, Dark yellow urine, Conjugated hyperbilirubinemia, Atretic gallbladder, Splenomegaly...	ORPHA:30391
Autosomal Recessive Robinow Syndrome	Cryptorchidism, Alopecia, Long eyelashes, Fingernail dysplasia	ORPHA:1507
Chronic Graft Versus Host Disease	Alopecia, Erythema, Xerostomia, Skin ulcer, Onycholysis, Nail dystrophy, Skin vesicle	ORPHA:99921
Hypokalemic Periodic Paralysis, Type 1	Periodic paralysis	OMIM:170400
Wrinkly Skin Syndrome	Cryptorchidism, Excessive skin wrinkling on dorsum of hands and fingers, Slurred speech, Cutis la...	ORPHA:2834
Autosomal Dominant Robinow Syndrome	Alopecia, Curly eyelashes, Cryptorchidism, Long eyelashes, Fingernail dysplasia, Ridged fingernai...	ORPHA:3107
Inhalational Botulism	Xerostomia, Paralysis	ORPHA:254504
Adams-Oliver Syndrome 1	Alopecia, Small nail, Supernumerary nipple	OMIM:100300
Lenz-Majewski Hyperostotic Dwarfism	Sparse hair, Cryptorchidism, Anterior pituitary hypoplasia, Cutis laxa	OMIM:151050
Bohring-Opitz Syndrome	Dandy-Walker malformation, Abnormal optic nerve morphology, Delayed peripheral myelination	OMIM:605039
Intellectual Developmental Disorder, Autosomal Dominant 68	Sparse hair	OMIM:619934
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Sparse hair, Cryptorchidism, Hypothyroidism, Exocrine pancreatic insufficiency	OMIM:620005
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Recurrent urinary tract infections, Cataract, Hypospadias, Hyperactivity, Impulsivity, Aggressive...	ORPHA:353281
Insensitivity To Pain, Congenital, With Anhidrosis	Decreased number of small peripheral myelinated nerve fibers, Pain insensitivity, Postural hypote...	OMIM:256800
Glioblastoma	Paralysis	ORPHA:360
Myhre Syndrome	Ataxia, Cryptorchidism, Fine hair, Sparse hair, Thick eyebrow	OMIM:139210
Ring Chromosome 13 Syndrome	Alopecia, Hypoplasia of the gallbladder, Primary hypothyroidism	ORPHA:96176
Gm2 Gangliosidosis, Ab Variant	Abnormal fear-induced behavior, Cherry red spot of the macula, Inappropriate behavior	ORPHA:309246
Pseudohypoaldosteronism Type 2	Periodic paralysis	ORPHA:757
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency	Decreased testicular size, Elevated circulating luteinizing hormone level, Sparse axillary hair, ...	ORPHA:90796
Full Nf2-Related Schwannomatosis	Remnants of the hyaloid vascular system, Retinal hamartoma, Epiretinal membrane, Posterior subcap...	ORPHA:637
Oculopalatocerebral Syndrome	Remnants of the hyaloid vascular system, Leukocoria	OMIM:257910
Cranioectodermal Dysplasia 1	Slow-growing hair, Thin nail, Short nail, Fine hair, Sparse hair	OMIM:218330
Chilton-Okur-Chung Neurodevelopmental Syndrome	Sparse scalp hair, Anterior pituitary hypoplasia, Highly arched eyebrow, Sparse eyebrow, Cryptorc...	OMIM:619841
Liver Disease, Severe Congenital	Dry hair, Cardiomegaly, Biliary hyperplasia, Leukopenia, Aminoaciduria, Hypocalcemia, Lymphocytos...	OMIM:619991
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Alopecia, Hypoplasia of the ovary, Decreased testicular size	OMIM:619321
Severe Generalized Junctional Epidermolysis Bullosa	Alopecia, Paronychia, Nail dystrophy, Anonychia, Abnormality of the nail	ORPHA:79404
Cartilage-Hair Hypoplasia	Sparse hair, Sparse eyebrow	ORPHA:175
Wiedemann-Rautenstrauch Syndrome	Sparse scalp hair, Dermal translucency, Hyperthyroidism, Ataxia, Decreased response to growth hor...	ORPHA:3455
Blau Syndrome	Clear cell renal cell carcinoma, Cataract, Abnormal retinal vascular morphology, Splenomegaly, Re...	ORPHA:90340
Cranioectodermal Dysplasia 2	Sparse eyelashes, Sparse eyebrow, Cutis laxa, Bile duct proliferation, Sparse hair	OMIM:613610
Andersen-Tawil Syndrome	Periodic hypokalemic paresis, Periodic hyperkalemic paralysis, Hyperaldosteronism, Periodic paral...	ORPHA:37553
Neuroocular Syndrome	Hypoplasia of the fovea, Cataract, Remnants of the hyaloid vascular system, Brittle hair, Highly ...	OMIM:619539
Hereditary Pheochromocytoma-Paraganglioma	Extraadrenal pheochromocytoma, Tremor, Episodic hyperhidrosis, Vocal cord paralysis, Adrenal pheo...	ORPHA:29072
Acromelic Frontonasal Dysostosis	Cryptorchidism, Hypopituitarism, Remnants of the hyaloid vascular system, Optic nerve hypoplasia	OMIM:603671
Mandibuloacral Dysplasia Progeroid Syndrome	Sparse hair, Nail dystrophy, Sparse eyebrow, Palmoplantar hyperkeratosis	OMIM:619127
Costello Syndrome	Deep-set nails, Curly hair, Redundant neck skin, Thin nail, Concave nail, Sparse hair, Fragile nails	OMIM:218040
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Broad-based gait, Paralysis, Spastic paraplegia, Skin ulcer, Limb ataxia, Hypertonia, Oculomotor ...	ORPHA:2072
Proximal Renal Tubular Acidosis	Hyperphosphaturia, Cataract, Band keratopathy, Bicarbonaturia, Bicarbonate-wasting renal tubular ...	ORPHA:47159
Alström Syndrome	Urinary incontinence, Decreased response to growth hormone stimulation test, Functional abnormali...	ORPHA:64
Microphthalmia, Syndromic 2	Retinal detachment, Remnants of the hyaloid vascular system, Hypospadias, Septate vagina, Cryptor...	OMIM:300166
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Cryptorchidism, Fine hair, Hyperkeratosis, S...	OMIM:210710
Wrinkly Skin Syndrome	Redundant skin, Short nail, Cryptorchidism, Neonatal wrinkled skin of hands and feet, Palmoplanta...	OMIM:278250
Igg4-Related Thyroid Disease	Pancreatic fibrosis, Thyrotoxicosis with diffuse goiter, Abnormal pituitary gland morphology, Voc...	ORPHA:64744
Testicular Agenesis	Abnormal vas deferens morphology, Urethrovaginal fistula, Absent external genitalia, Increased ci...	ORPHA:325124
Renpenning Syndrome 1	Brittle hair, Sparse hair, Spasticity, Decreased testicular size, Sparse lateral eyebrow	OMIM:309500
Neurocardiofaciodigital Syndrome	Sparse hair, Sparse eyebrow	OMIM:619869
Hutchinson-Gilford Progeria Syndrome	Absent eyebrow, Alopecia totalis, Loss of eyelashes, Lack of skin elasticity, Patchy alopecia, Sh...	ORPHA:740
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures	Sparse hair, Frontal hirsutism, Redundant neck skin, Pseudohypoparathyroidism	OMIM:617157
Hyperkalemic Periodic Paralysis	Periodic hyperkalemic paralysis	OMIM:170500
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)	Ataxia, Paralysis, Hypertonia, Bile duct proliferation, Myoclonus, Tetraparesis	OMIM:203700
Porphyria, Acute Intermittent	Respiratory paralysis, Paralysis	OMIM:176000
Roberts Syndrome	Sparse hair, Cryptorchidism	ORPHA:3103
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Compulsive behaviors, Vesicoureteral reflux, Abnormal repetitive mannerisms, Hyperactivity, Hypos...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Compulsive behaviors, Vesicoureteral reflux, Abnormal repetitive mannerisms, Hyperactivity, Hypos...	ORPHA:353277
Turner Syndrome Due To Structural X Chromosome Anomalies	Alopecia, Abnormal fingernail morphology, Hashimoto thyroiditis, Hypoplastic toenails, Increased ...	ORPHA:99413
Mosaic Monosomy X	Alopecia, Abnormal fingernail morphology, Hashimoto thyroiditis, Hypoplastic toenails, Increased ...	ORPHA:99228
Monosomy X	Alopecia, Abnormal fingernail morphology, Hashimoto thyroiditis, Hypoplastic toenails, Increased ...	ORPHA:99226
Turner Syndrome	Alopecia, Abnormal fingernail morphology, Hashimoto thyroiditis, Hypoplastic toenails, Increased ...	ORPHA:881
Focal Dermal Hypoplasia	Ridged nail, Brittle hair, Supernumerary nipple, Cryptorchidism, Patchy alopecia, Nail dystrophy,...	OMIM:305600
Paramyotonia Congenita Of Von Eulenburg	Periodic hypokalemic paresis	ORPHA:684
Hemolytic Anemia, Cd59-Mediated, With Or Without Immune-Mediated Polyneuropathy	Paralysis	OMIM:612300
Andersen Cardiodysrhythmic Periodic Paralysis	Periodic hypokalemic paresis, Hyperthyroidism, Periodic paralysis	OMIM:170390
Tick-Borne Encephalitis	Speech apraxia, Incoordination, Paralysis, Tremor, Hyperkinetic movements, Tongue fasciculations	ORPHA:297
Renal Tubular Acidosis Iii	Periodic paralysis	OMIM:267200
Gitelman Syndrome	Neoplasm of the pancreas, Paralysis, Hyperhidrosis, Primary hyperaldosteronism, Parathyroid adeno...	ORPHA:358
Gitelman Syndrome	Ataxia, Paralysis	OMIM:263800
Sarcoidosis	Alopecia, Hyperthyroidism, Enlarged lacrimal glands, Enlargement of parotid gland, Hypothyroidism...	ORPHA:797
Pallister-Killian Syndrome	Sparse scalp hair, Alopecia, Anhidrosis, Sparse eyelashes, Supernumerary nipple, Sparse eyebrow, ...	OMIM:601803
Bloom Syndrome	Paronychia, Patchy alopecia, Sparse eyelashes	ORPHA:125
Neuropathy, Hereditary Sensory And Autonomic, Type Iii	Decreased number of large peripheral myelinated nerve fibers, Orthostatic hypotension	OMIM:223900
Rift Valley Fever	Hemiparesis, Paraparesis, Decerebrate rigidity, Paralysis	ORPHA:319251
Primrose Syndrome	Sparse scalp hair, Ataxia, Absent facial hair, Bilateral cryptorchidism, Cryptorchidism, Synophry...	OMIM:259050
Viss Syndrome	Sparse scalp hair, Alopecia, Cutis laxa, Hypothyroidism, Hirsutism	OMIM:619472
Menke-Hennekam Syndrome 1	Sparse hair, Cryptorchidism, Long eyelashes, Thick eyebrow	OMIM:618332
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Delayed peripheral myelination	ORPHA:364577
Vascular Ehlers-Danlos Syndrome	Alopecia, Redundant skin, Abnormality of hair texture, Abnormal eyelash morphology, Cryptorchidis...	ORPHA:286
Branchiooculofacial Syndrome	Supernumerary nipple, Cryptorchidism, Low posterior hairline, Premature graying of hair, White fo...	OMIM:113620
Pineoblastoma	Lethargy, Pinealoma, Paralysis	ORPHA:251909
Distal Renal Tubular Acidosis	Paralysis	ORPHA:18
Aprosencephaly And Cerebellar Dysgenesis	Poorly formed metencephalon, Retinal dysplasia, Cerebellar dysplasia	OMIM:601374
Holoprosencephaly 2	Anterior pituitary agenesis, Remnants of the hyaloid vascular system, Iris coloboma, Chorioretina...	OMIM:157170
Roberts-Sc Phocomelia Syndrome	Sparse hair, Cryptorchidism	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

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X-ray

Histopathology

Human diseases caused by Fa2h mutations

Histopathology

IMPC related publications

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Access Data Release 20.1 Data