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Gene: Twist2 MGI:104685

Gene Summary

Name:

twist basic helix-loop-helix transcription factor 2

Synonyms:

bHLHa39, Dermo1

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
enlarged lung	Twist2^{tm1.1(KOMP)Vlcg}	HET	Early adult
abnormal heart morphology	Twist2^{tm1.1(KOMP)Vlcg}	HET	Early adult
enlarged heart	Twist2^{tm1.1(KOMP)Vlcg}	HET	Early adult
preweaning lethality, incomplete penetrance	Twist2^{tm1.1(KOMP)Vlcg}	HOM	Early adult
abnormal testis morphology	Twist2^{tm1.1(KOMP)Vlcg}	HET	Early adult
abnormal lung morphology	Twist2^{tm1.1(KOMP)Vlcg}	HET	Early adult
small testis	Twist2^{tm1.1(KOMP)Vlcg}	HET	Early adult

Download data as: TSV XLS

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Viewing: all phenotypes

lacZ Expression

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy	Images	Zygosity	Mutant Expr
Adrenal gland	Section images	heterozygote	50% (1 of 2)
Cecum	Section images	heterozygote	100% (2 of 2)
Colon	Section images	heterozygote	100% (2 of 2)
Epididymis	Section images	heterozygote	50% (1 of 2)
Esophagus	Section images	heterozygote	100% (2 of 2)
Eye	Section images	heterozygote	100% (2 of 2)
Ileum	Section images	heterozygote	100% (2 of 2)
Jejunum	Section images	heterozygote	50% (1 of 2)
Lung	Section images	heterozygote	100% (2 of 2)
Mammary gland	Section images	heterozygote	50% (1 of 2)
Mesenteric adipose tissue	Section images	heterozygote	50% (1 of 2)
Oviduct	Section images	heterozygote	50% (1 of 2)
Penis	Section images	heterozygote	50% (1 of 2)
Skin	Section images	heterozygote	100% (2 of 2)
Spleen	Section images	heterozygote	50% (1 of 2)
Stomach	Section images	heterozygote	100% (2 of 2)
Testis	Section images	heterozygote	50% (1 of 2)
Tongue	Section images	heterozygote	100% (2 of 2)
Trachea	Section images	heterozygote	100% (2 of 2)
Urinary bladder	Section images	heterozygote	100% (2 of 2)
Uterus	Section images	heterozygote	50% (1 of 2)
Vas deferens	Section images	heterozygote	50% (1 of 2)
Vesicular gland	Section images	heterozygote	50% (1 of 2)
Aorta	N/A	heterozygote	0.0% (0 of 2)
Blood	N/A	heterozygote	0.0% (0 of 2)
Bone marrow	N/A	heterozygote	0.0% (0 of 2)
Brain	N/A	heterozygote	0.0% (0 of 2)
Brainstem	N/A	heterozygote	Not available
Brown adipose tissue	N/A	heterozygote	0.0% (0 of 2)
Cartilage tissue	N/A	heterozygote	Not available
Cerebellum	N/A	heterozygote	0.0% (0 of 2)
Cerebral cortex	N/A	heterozygote	Not available
Chest bone	N/A	heterozygote	Not available
Diaphragm	N/A	heterozygote	0.0% (0 of 2)
Duodenum	N/A	heterozygote	0.0% (0 of 2)
Gall bladder	N/A	heterozygote	Not available
Gonadal fat pad	N/A	heterozygote	0.0% (0 of 2)
Harderian gland	N/A	heterozygote	0.0% (0 of 2)
Heart	N/A	heterozygote	Not available
Hindlimb	N/A	heterozygote	Not available
Hippocampus	N/A	heterozygote	Not available
Hypothalamus	N/A	heterozygote	Not available
Kidney	N/A	heterozygote	0.0% (0 of 2)
Large intestine	N/A	heterozygote	100% (2 of 2)
Liver	N/A	heterozygote	0.0% (0 of 2)
Lower urinary tract	N/A	heterozygote	Not available
Lymph node	N/A	heterozygote	Not available
Mesenteric lymph node	N/A	heterozygote	0.0% (0 of 2)
Midbrain	N/A	heterozygote	0.0% (0 of 2)
Olfactory lobe	N/A	heterozygote	0.0% (0 of 2)
Ovary	N/A	heterozygote	0.0% (0 of 2)
Pancreas	N/A	heterozygote	0.0% (0 of 2)
Parathyroid gland	N/A	heterozygote	0.0% (0 of 2)
Parotid gland	N/A	heterozygote	0.0% (0 of 2)
Peripheral nervous system	N/A	heterozygote	Not available
Peyer's patch	N/A	heterozygote	Not available
Pituitary gland	N/A	heterozygote	0.0% (0 of 2)
Prostate gland	N/A	heterozygote	Not available
Quadriceps	N/A	heterozygote	0.0% (0 of 2)
Sciatic nerve	N/A	heterozygote	0.0% (0 of 2)
Skeletal muscle	N/A	heterozygote	Not available
Small intestine	N/A	heterozygote	100% (2 of 2)
Spinal cord	N/A	heterozygote	0.0% (0 of 2)
Stomach pyloric region	N/A	heterozygote	Not available
Striatum	N/A	heterozygote	Not available
Sublingual gland	N/A	heterozygote	0.0% (0 of 2)
Submandibular gland	N/A	heterozygote	0.0% (0 of 2)
Thymus	N/A	heterozygote	0.0% (0 of 2)
Thyroid gland	N/A	heterozygote	0.0% (0 of 2)
Trigeminal V nerve	N/A	heterozygote	0.0% (0 of 2)
Vagina	N/A	heterozygote	0.0% (0 of 2)
Vascular system	N/A	heterozygote	Not available
White adipose tissue	N/A	heterozygote	Not available

No Embryo expression data was found for this gene.

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy	Background staining in controls (WT)
adrenal gland	0.0%
aorta	0.0%
blood
bone marrow
brain	0.0%
brainstem	0.0%
brown adipose tissue	0.0%
cartilage tissue	0.0%
cecum	0.0%
cerebellum	0.0%
cerebral cortex	0.0%
chest bone
colon
diaphragm	0.0%
duodenum	0.0%
epididymis	Unavailable
esophagus	0.0%
eye	0.0%
gall bladder	0.0%
gonadal fat pad	0.0%
harderian gland
heart	0.0%
hindlimb	0.0%
hippocampus	0.0%
hypothalamus	0.0%
ileum	0.0%
jejunum
kidney	0.0%
large intestine	0.0%
liver	0.0%
lower urinary tract	0.0%
lung	0.0%
lymph node	0.0%
mammary gland	0.0%
mesenteric adipose tissue	0.0%
mesenteric lymph node
midbrain	0.0%
olfactory lobe	0.0%
ovary	0.0%
oviduct	0.0%
pancreas	0.0%
parathyroid gland	0.0%
parotid gland	0.0%
penis	0.0%
peripheral nervous system	0.0%
peyers patch	0.0%
pituitary gland	0.0%
prostate gland	0.0%
quadriceps	0.0%
sciatic nerve	0.0%
skeletal muscle	0.0%
skin	0.0%
small intestine	0.0%
spinal cord	0.0%
spleen	0.0%
stomach	0.0%
stomach pyloric region	0.0%
striatum	0.0%
sublingual gland	0.0%
submandibular gland	0.0%
testis	0.0%
thymus	0.0%
thyroid gland	0.0%
tongue	0.0%
trachea	0.0%
trigeminal v nerve	0.0%
urinary bladder
uterus	0.0%
vagina	0.0%
vas deferens	Unavailable
vascular system	0.0%
vesicular gland	Unavailable
white adipose tissue	0.0%

No Embryo expression data was found for this gene.

Associated Images

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

Adult LacZ

LacZ Images Section

81 Images

View images

Human diseases caused by Twist2 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 Twist2 (6 diseases)
Human diseases predicted to be associated with Twist2 (2325 diseases)

The table below shows human diseases associated to Twist2 by orthology or direct annotation.

Disease	Matching phenotypes	Source
Focal Facial Dermal Dysplasia Type Iii	Epicanthus, Aplasia/Hypoplasia of the skin, Sparse lower eyelashes, Redundant skin, Abnormal hair...	ORPHA:1807
Focal Facial Dermal Dysplasia 3, Setleis Type	Epicanthus, Low anterior hairline, Absent lower eyelashes, Sparse hair, Distichiasis	OMIM:227260
Ablepharon Macrostomia Syndrome	Omphalocele, Absent eyebrow, Ablepharon, Camptodactyly of finger, Abnormal hair pattern, Redundan...	ORPHA:920
Barber-Say Syndrome	Ablepharon, Telecanthus, Aplasia/Hypoplasia of the skin, Abnormal pinna morphology, Redundant ski...	ORPHA:1231
Ablepharon-Macrostomia Syndrome	Ventral hernia, Absent eyebrow, Ablepharon, Microtia, third degree, Hypoplasia of eyelid, Omphalo...	OMIM:200110
Barber-Say Syndrome	Dermal translucency, Telecanthus, Absent nipple, Sparse eyelashes, Ectropion, Extra concha fold, ...	OMIM:209885

The table below shows human diseases predicted to be associated to Twist2 by phenotypic similarity.

Disease	Matching phenotypes	Source
Hypotrichosis 1	Sparse eyelashes, Sparse axillary hair, Sparse pubic hair, Sparse eyebrow, Abnormality of the nai...	OMIM:605389
Hypotrichosis Simplex	Sparse scalp hair, Alopecia, Sparse eyelashes, Sparse eyebrow, Sparse hair, Sparse body hair	ORPHA:55654
Alopecia Universalis Congenita	Absent eyebrow, Absent eyelashes, Absent pubic hair, Absent axillary hair, Alopecia universalis	OMIM:203655
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
Inflammatory Poikiloderma With Hair Abnormalities And Acral Keratoses	Sparse scalp hair, Absent eyebrow, Sparse eyelashes, Acrokeratosis, Sparse eyebrow	OMIM:620199
Dermoodontodysplasia	Sparse scalp hair, Abnormal eyelid morphology, Melanocytic nevus, Fingernail dysplasia, Thin skin...	ORPHA:1660
Alopecia Universalis	Absent eyelashes, Absent eyebrow, Patchy alopecia, Alopecia universalis	ORPHA:701
Dermoodontodysplasia	Dry skin, Thin skin, Nail dysplasia, Trichodysplasia	OMIM:125640
Odonto-Onycho Dysplasia-Alopecia Syndrome	Alopecia, Abnormal fingernail morphology, Sparse eyebrow, Hypoplastic toenails, Sparse hair, Spar...	ORPHA:2722
Hypotrichosis 10	Sparse eyebrow, Sparse eyelashes, Sparse body hair	OMIM:614238
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome	Sparse scalp hair, Abnormal eyelash morphology, Melanocytic nevus, Sparse body hair, Alopecia uni...	ORPHA:1008
Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy	Alopecia, Onychogryposis of toenails, Dermal atrophy, Alopecia of scalp, Sparse body hair, Dystro...	OMIM:617294
Alopecia Areata 2	Alopecia of scalp, Patchy alopecia, Alopecia totalis, Alopecia universalis	OMIM:610753
Ethanolaminosis	Cardiomegaly	OMIM:227150
Alopecia Areata 1	Trachyonychia, Alopecia totalis, Nail pits, Patchy alopecia, Alopecia universalis	OMIM:104000
Pseudoprogeria Syndrome	Absent eyebrow, Alopecia, Absent eyelashes, Sparse eyebrow, Thin skin, Sparse hair	ORPHA:2985
Parc Syndrome	Absent eyelashes, Absent eyebrow, Alopecia	OMIM:600331
Graham Little-Piccardi-Lassueur Syndrome	Sparse pubic hair, Sparse scalp hair, Alopecia, Sparse axillary hair	ORPHA:505
Familial Partial Lipodystrophy, Dunnigan Type	Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Aplasia/Hypoplasia of the skin, Lipoa...	ORPHA:2348
Witkop Syndrome	Ridged nail, Concave nail, Nail pits, Fine hair, Small nail, Sparse hair	OMIM:189500
Hidrotic Ectodermal Dysplasia	Absent eyebrow, Alopecia, Hypopigmentation of hair, Sparse eyelashes, Brittle scalp hair, Sparse ...	ORPHA:189
Focal Facial Dermal Dysplasia Type I	Absent eyelashes, Low anterior hairline, Spotty hypopigmentation, Atrophic scars, Skin dimple, Sp...	ORPHA:79133
Ectodermal Dysplasia 6, Hair/Nail Type	Sparse hair, Alopecia, Thin toenail, Dystrophic toenail	OMIM:614928
Griscelli Syndrome, Type 3	Silver-gray hair, Large clumps of pigment irregularly distributed along hair shaft, White eyelashes	OMIM:609227
Pparg-Related Familial Partial Lipodystrophy	Maternal diabetes, Xanthomatosis, Acanthosis nigricans, Hepatic steatosis, Generalized hirsutism,...	ORPHA:79083
Focal Facial Dermal Dysplasia 1, Brauer Type	Distichiasis, Low-set ears, Sparse lateral eyebrow	OMIM:136500
Paternal 20Q13.2Q13.3 Microdeletion Syndrome	Lipoatrophy, Wide nasal bridge, Skin dimple, Thin skin, Sparse hair, Macrotia, Aplasia/Hypoplasia...	ORPHA:261304
Leukomelanoderma, Infantilism, Mental Retardation, Hypodontia, Hypotrichosis	Sparse hair	OMIM:246500
Trichodysplasia-Xeroderma Syndrome	Sparse scalp hair, Alopecia, Brittle hair, Sparse eyebrow, Sparse body hair, Coarse hair, Trichod...	ORPHA:3361
Ectodermal Dysplasia, Trichoodontoonychial Type	Lipoatrophy, Abnormal eyelash morphology, Melanocytic nevus, Sparse hair, Abnormal toenail morpho...	ORPHA:1818
Hypotrichosis 9	Sparse scalp hair, Sparse body hair	OMIM:614237
Acrogeria	Aplasia/Hypoplasia of the skin, Lipoatrophy, Skin ulcer, Fine hair, Excessive wrinkled skin, Thin...	ORPHA:2500
Ectodermal Dysplasia 9, Hair/Nail Type	Concave nail, Absent eyelashes, Nail dystrophy, Atrichia, Nail dysplasia, Sparse hair, Absent hair	OMIM:614931
Alopecia Totalis	Alopecia, Alopecia of scalp	ORPHA:700
Keratosis Follicularis, Dwarfism, And Cerebral Atrophy	Absent eyelashes, Absent eyebrow, Absent hair	OMIM:308830
Alopecia, Congenital	Sparse hair, Alopecia	OMIM:300042
Intellectual Developmental Disorder With Nasal Speech, Dysmorphic Facies, And Variable Skeletal Anomalies	Hirsutism, Upslanted palpebral fissure, Long eyelashes, Horizontal eyebrow, Low-set ears, Thick e...	OMIM:618608
Hidrotic Ectodermal Dysplasia, Christianson-Fourie Type	Sparse scalp hair, Absent eyebrow, Sparse eyelashes, Sparse axillary hair, Abnormal hair morpholo...	ORPHA:1808
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome	Sparse scalp hair, Epicanthus, Telecanthus, Sparse eyelashes, Lipodystrophy, Sparse eyebrow, Cryp...	ORPHA:75496
Ectodermal Dysplasia 8, Hair/Tooth/Nail Type	Sparse scalp hair, Aplasia/Hypoplasia of the eyebrow, Sparse or absent eyelashes, Dystrophic fing...	OMIM:602401
Proliferating Trichilemmal Cyst	Sparse scalp hair, Epidermoid cyst, Skin ulcer	ORPHA:492
Perifolliculitis Capitis Abscedens Et Suffodiens, Familial	Alopecia, Alopecia of scalp	OMIM:260910
Atrichia With Papular Lesions	Sparse hair	OMIM:209500
Alopecia-Intellectual Disability Syndrome 1	Alopecia, Alopecia universalis	OMIM:203650
Ectodermal Dysplasia 4, Hair/Nail Type	Absent eyebrow, Alopecia, Brittle hair, Absent eyelashes, Onycholysis, Nail dystrophy, Sparse bod...	OMIM:602032
Pili Torti-Onychodysplasia Syndrome	Absent eyebrow, Alopecia, Brittle hair, Abnormal pinna morphology, Absent eyelashes, Dry skin, Na...	ORPHA:2890
Atopic Keratoconjunctivitis	Abnormal eyelid morphology, Loss of eyelashes, Keratoconjunctivitis sicca, Chemosis, Dry skin, Bl...	ORPHA:163934
Congenital Heart Defects And Ectodermal Dysplasia	Medial flaring of the eyebrow, Sparse scalp hair, Thin skin, High anterior hairline, Dry skin, Fr...	OMIM:617364
Insulin-Resistance Syndrome Type A	Hyperkeratosis, Subcutaneous nodule, Type II diabetes mellitus, Generalized hirsutism	ORPHA:2297
Bazex-Dupré-Christol Syndrome	Sparse scalp hair, Sparse eyebrow, Subcutaneous nodule, Sparse or absent eyelashes, Coarse hair, ...	ORPHA:113
Tooth Agenesis, Selective, 8	Sparse eyebrow, Dry skin, Sparse hair	OMIM:617073
Hypotrichosis 14	Sparse pubic hair, Short eyelashes, Absent axillary hair, Sparse hair, Sparse body hair	OMIM:618275
Autosomal Recessive Generalized Epidermolysis Bullosa Simplex	Ridged nail, Aplasia cutis congenita on trunk or limbs, Abnormal fingernail morphology, Palmoplan...	ORPHA:89838
Pili Torti-Developmental Delay-Neurological Abnormalities Syndrome	Sparse or absent eyelashes, Pili torti, Aplasia/Hypoplasia of the eyebrow, Abnormality of hair te...	ORPHA:2891
Ichthyosis-Hypotrichosis Syndrome	Sparse hair	ORPHA:91132
Focal Facial Dermal Dysplasia Type Iii	Epicanthus, Aplasia/Hypoplasia of the skin, Sparse lower eyelashes, Redundant skin, Abnormal hair...	ORPHA:1807
Candidiasis, Familial, 1	Alopecia	OMIM:114580
Severe Combined Immunodeficiency Due To Foxn1 Deficiency	Ridged nail, Nail pits, Congenital alopecia totalis	ORPHA:169095
Autosomal Dominant Hypohidrotic Ectodermal Dysplasia	Sparse hair, Abnormal fingernail morphology, Sparse body hair, Thin skin	ORPHA:1810
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Acroosteolysis of distal phalanges (feet), Premature graying of hair, Increased intraabdominal fa...	ORPHA:280365
L-Ferritin Deficiency	Alopecia	OMIM:615604
Lipodystrophy Due To Peptidic Growth Factors Deficiency	Reduced subcutaneous adipose tissue, Aplasia/Hypoplasia of the skin, Lipoatrophy, Lipodystrophy, ...	ORPHA:1979
Adult Syndrome	Sparse scalp hair, Alopecia, Absent nipple, Nasolacrimal duct obstruction, Wide nasal bridge, Fin...	ORPHA:978
Hypotrichosis, Congenital, With Juvenile Macular Dystrophy	Sparse hair, Reduced terminal:vellus ratio, Pili torti	OMIM:601553
Tooth Agenesis, Selective, 4	Sparse scalp hair, Sparse eyebrow, Short eyelashes, Thin skin, Dry skin, Dystrophic fingernails, ...	OMIM:150400
Alopecia, Familial Focal	Patchy alopecia	OMIM:104110
Hypotrichosis-Lymphedema-Telangiectasia Syndrome	Sparse scalp hair, Alopecia, Absent eyebrow, Palpebral edema, Abnormal sweat gland morphology, Ab...	OMIM:607823
Osteopenia And Sparse Hair	Sparse hair	OMIM:259690
Alopecia-Intellectual Disability Syndrome 3	Alopecia universalis	OMIM:613930
Alopecia-Intellectual Disability Syndrome 2	Alopecia universalis	OMIM:610422
Alopecia-Intellectual Disability-Hypergonadotropic Hypogonadism Syndrome	Alopecia totalis	ORPHA:1014
Alopecia, Androgenetic, 1	Alopecia	OMIM:109200
Partial Chromosome Y Deletion	Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato...	ORPHA:1646
Woolly Hair, Autosomal Recessive 3	Sparse scalp hair, Curly hair, Sparse eyelashes, Fine hair, Sparse hair, Trichorrhexis nodosa	OMIM:616760
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome	Alopecia, Camptodactyly of finger, Hypopigmented skin patches, Protruding ear, Fingernail dysplas...	ORPHA:2251
Hypotrichosis 7	Sparse scalp hair, Brittle hair, Sparse eyelashes, Sparse axillary hair, Abnormal sweat gland mor...	OMIM:604379
Leprosy	Urticarial plaque, Absent eyebrow, Alopecia, Hypopigmented macule, Skin nodule, Testicular mass, ...	ORPHA:548
Pili Torti	Abnormal eyebrow morphology, Alopecia, Brittle hair, Abnormal dental enamel morphology, Abnormali...	ORPHA:2889
Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, And Facial Dysmorphism	Interphalangeal joint contracture of finger, Widow's peak, Knee flexion contracture, Sparse hair,...	OMIM:606242
Oligodontia-Colorectal Cancer Syndrome	Sparse scalp hair, Absent eyebrow, Sparse axillary hair, Short eyelashes, Sparse body hair	OMIM:608615
Hypotrichosis 8	Ridged nail, Sparse scalp hair, Dry hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow,...	OMIM:278150
Thumb Deformity And Alopecia	Alopecia	OMIM:188150
Marie Unna Hereditary Hypotrichosis	Sparse scalp hair, Alopecia, Sparse or absent eyelashes, Coarse hair, Aplasia/Hypoplasia of the e...	ORPHA:444
Crandall Syndrome	Alopecia, Brittle hair, Sensorineural hearing impairment, Fine hair, Sparse body hair, Abnormal t...	ORPHA:202
Griscelli Syndrome, Type 1	White eyelashes, White eyebrow, Silver-gray hair, Large clumps of pigment irregularly distributed...	OMIM:214450
Onychotrichodysplasia And Neutropenia	Curly hair, Chronic irritative conjunctivitis, Curly eyelashes, Concave nail, Sparse pubic hair, ...	OMIM:258360
Keratosis Follicularis-Dwarfism-Cerebral Atrophy Syndrome	Absent eyelashes, Absent eyebrow	ORPHA:2339
Spastic Paraplegia-Neuropathy-Poikiloderma Syndrome	Loss of eyelashes	ORPHA:2821
Erythrokeratodermia Variabilis	Macule, Alopecia, Hypermelanotic macule, Abnormal hair morphology, Erythema, Dry skin, Protruding...	ORPHA:317
Ectodermal Dysplasia 10A, Hypohidrotic/Hair/Nail Type, Autosomal Dominant	Ridged nail, Sparse eyelashes, Slow-growing hair, Sparse eyebrow, Fine hair, Sparse hair, Dry skin	OMIM:129490
Oliver-Mcfarlane Syndrome	Alopecia, Decreased response to growth hormone stimulation test, Long eyebrows, Cryptorchidism, L...	OMIM:275400
Mandibuloacral Dysplasia	Loss of subcutaneous adipose tissue in limbs, Alopecia, Lipoatrophy, Increased subcutaneous trunc...	ORPHA:2457
Epidermolysis Bullosa Simplex With Mottled Pigmentation	Alopecia, Hypermelanotic macule, Spotty hypopigmentation, Hypomelanotic macule, Nail dystrophy, N...	ORPHA:79397
Aredyld Syndrome	Hepatomegaly, Craniofacial hyperostosis, Lipoatrophy, Abnormal dental enamel morphology, Cachexia...	ORPHA:1133
Hidrotic Ectodermal Dysplasia, Halal Type	Sparse scalp hair, Absent eyebrow, Abnormal fingernail morphology, Supernumerary nipple, Absent e...	ORPHA:1809
Kerion Celsi	Alopecia	ORPHA:499
Proteus Syndrome	Epidermal nevus, Splenomegaly, Facial hyperostosis, Multiple lipomas, Hyperkeratosis, Calvarial h...	OMIM:176920
Porphyria, Congenital Erythropoietic	Absent eyebrow, Alopecia, Loss of eyelashes, Corneal scarring, Atypical scarring of skin, Conjunc...	OMIM:263700
Juvenile Hyaline Fibromatosis	Aplasia/Hypoplasia of the skin, Progressive flexion contractures, Abnormal hair morphology, Subcu...	ORPHA:2028
Quinquaud Folliculitis Decalvans	Scarring, Abnormal hair morphology, Scarring alopecia of scalp, Erythema, Patchy alopecia	ORPHA:346
Monilethrix	Abnormal eyebrow morphology, Brittle hair, Slow-growing hair, Abnormal eyelash morphology, Fine h...	ORPHA:573
Localized Dystrophic Epidermolysis Bullosa, Acral Form	Recurrent loss of toenails and fingernails, Erythema, Erythematous plaque, Thin skin, Dermal atro...	ORPHA:158673
Hypotrichosis 6	Brittle hair, Sparse eyelashes, Sparse eyebrow, Erythema, Sparse hair, Pili torti	OMIM:607903
Hypotrichosis 5	Alopecia, Sparse eyelashes, Abnormal sweat gland morphology, Absent pubic hair, Thin eyebrow, Abs...	OMIM:612841
19Q13.11 Microdeletion Syndrome	Supernumerary nipple, Hearing impairment, Cryptorchidism, Fine hair, Sparse or absent eyelashes, ...	ORPHA:217346
Anonychia With Flexural Pigmentation	Hypermelanotic macule, Abnormal hair morphology, Hyperkeratosis, Alopecia of scalp, Follicular hy...	ORPHA:69125
Lichen Planopilaris	Alopecia, Abnormal fingernail morphology, Hypopigmented skin patches, Skin ulcer, Onycholysis, De...	ORPHA:525
Keratosis Pilaris Atrophicans	Absent eyelashes, Sparse eyebrow, Erythema, Papule, Comedo	OMIM:604093
Woolly Hair, Hypotrichosis, Everted Lower Lip, And Outstanding Ears	Sparse hair, Woolly hair, Protruding ear	OMIM:278200
Bullous Dystrophy, Hereditary Macular Type	Alopecia totalis, Abnormality of the nail	OMIM:302000
3-Methylglutaconic Aciduria Type 1	Hepatomegaly, Hypoglycemia, Spastic tetraparesis, Dystonia, Failure to thrive	ORPHA:67046
Progeroid Syndrome, Petty Type	Low-set, posteriorly rotated ears, Reduced subcutaneous adipose tissue, Epicanthus, Brittle hair,...	ORPHA:2963
Intermediate Generalized Junctional Epidermolysis Bullosa	Scarring alopecia of scalp, Atrophic scars, Nail dystrophy, Milia, Aplasia cutis congenita, Ename...	ORPHA:79402
Prolidase Deficiency	Hepatomegaly, Aplasia/Hypoplasia of the skin, Abnormal fingernail morphology, Splenomegaly, Low a...	ORPHA:742
Distichiasis	Distichiasis	OMIM:126300
Tristichiasis	Three rows of eyelashes	OMIM:190800
Classic Mycosis Fungoides	Alopecia, Abnormal eyelid morphology, Erythema, Hypopigmented skin patches, Skin ulcer, Dry skin,...	ORPHA:2584
Zimmermann-Laband Syndrome 3	Thick hair, Synophrys, Flexion contracture, Low anterior hairline, Wide nasal bridge, Absent toen...	OMIM:618658
Rapp-Hodgkin Syndrome	Absent lacrimal punctum, Sparse eyelashes, Slow-growing hair, Supernumerary nipple, Hearing impai...	OMIM:129400
Autosomal Recessive Palmoplantar Keratoderma And Congenital Alopecia	Aplasia/Hypoplasia of the skin, Alopecia totalis, Subcutaneous nodule, Lack of skin elasticity, A...	ORPHA:1366
Pseudopelade Of Brocq	Sparse scalp hair, Alopecia, Abnormal hair morphology, Papule, Abnormality of the nail, Aplasia/H...	ORPHA:129
Autosomal Dominant Deafness-Onychodystrophy Syndrome	Hypoplastic toenails, Absent thumbnail, Absent toenail, Absent fingernail, Severe sensorineural h...	ORPHA:79499
Moynahan Syndrome	Sparse hair, Hyperkeratosis, Alopecia, Cachexia	ORPHA:2574
Focal Facial Dermal Dysplasia 3, Setleis Type	Epicanthus, Low anterior hairline, Absent lower eyelashes, Sparse hair, Distichiasis	OMIM:227260
Trichomegaly	Long eyelashes	OMIM:190330
Cutis Laxa, Autosomal Recessive, Type Iiib	Inguinal hernia, Posteriorly rotated ears, Cryptorchidism, Prominent ear helix, Flexion contractu...	OMIM:614438
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia	Alopecia, Abnormal fingernail morphology, Abnormal hair morphology, Fine hair, Abnormal toenail m...	ORPHA:248
Dystrophic Epidermolysis Bullosa Pruriginosa	Scarring, Subcutaneous nodule, Increased circulating IgE level, Hyperkeratosis, Atrophic scars, D...	ORPHA:89843
Rothmund-Thomson Syndrome, Type 1	Absent eyebrow, Thin nail, Absent eyelashes, Nail dystrophy, Sparse hair, Cafe-au-lait spot	OMIM:618625
Erythrokeratodermia Variabilis Et Progressiva 5	Abnormal hair morphology, Hyperkeratosis, Onychogryposis, Palmoplantar hyperkeratosis	OMIM:617756
Spermatogenic Failure, X-Linked, 2	Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest	OMIM:309120
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome	Epicanthus, Inguinal hernia, Abnormal dental enamel morphology, Supernumerary nipple, Abnormal ey...	ORPHA:1812
Autosomal Dominant Focal Dystonia, Dyt25 Type	Axial dystonia, Torticollis, Focal dystonia, Limb dystonia, Lingual dystonia, Laryngeal dystonia,...	ORPHA:329466
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy	Ridged nail, Alopecia, Nail dystrophy, Nail pits	OMIM:601705
Clouston Syndrome	Alopecia, Brittle hair, Sparse eyelashes, Alopecia totalis, Slow-growing hair, Sparse eyebrow, Ab...	OMIM:129500
Axin2-Related Attenuated Familial Adenomatous Polyposis	Sparse hair, Abnormal odontoid tissue morphology	ORPHA:401911
Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome	Sparse scalp hair, Alopecia, Sparse eyebrow, Fine hair, Melanocytic nevus, Dystrophic fingernails...	ORPHA:1882
Schopf-Schulz-Passarge Syndrome	Ridged nail, Narrow nail, Thin nail, Poroma, Multiple eyelid margin cysts, Onycholysis, Nail dyst...	OMIM:224750
Hypotrichosis And Recurrent Skin Vesicles	Sparse scalp hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow, Leukonychia, Skin vesi...	OMIM:613102
Hypotrichosis Simplex Of The Scalp	Abnormal eyebrow morphology, Sparse scalp hair, Absent facial hair, Abnormality of the pubic hair...	ORPHA:90368
Adult Syndrome	Sparse scalp hair, Absent nipple, Fair hair, Sparse axillary hair, Nasolacrimal duct obstruction,...	OMIM:103285
Alopecia-Intellectual Disability Syndrome	Sparse scalp hair, Alopecia, Flexion contracture, Macrotia, Sparse body hair, Aplasia/Hypoplasia ...	ORPHA:2850
Palmoplantar Keratoderma And Congenital Alopecia 2	Camptodactyly of finger, Alopecia totalis, Facial erythema, Nail dystrophy, Nail dysplasia, Dry skin	OMIM:212360
Ulerythema Ophryogenesis	Dry skin, Erythematous papule, Facial erythema, Dermal atrophy, Hyperkeratotic papule, Sparse lat...	ORPHA:3406
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome	Alopecia, Decreased response to growth hormone stimulation test, Cryptorchidism, Long eyelashes, ...	ORPHA:3363
Hair Defect With Photosensitivity And Mental Retardation	Brittle hair, Sparse eyelashes, Sparse eyebrow, Coarse hair, Sparse hair	OMIM:234030
Epidermolysis Bullosa Simplex 5D, Generalized Intermediate, Autosomal Recessive	Alopecia, Nail dystrophy	OMIM:616487
Ectodermal Dysplasia 7, Hair/Nail Type	Sparse scalp hair, Alopecia, Brittle hair, Sparse eyelashes, Abnormal sweat gland morphology, Spa...	OMIM:614929
Trichothiodystrophy 9, Nonphotosensitive	Epicanthus, Sparse eyebrow, Nail dystrophy, Sparse hair, Tiger tail banding	OMIM:619692
Flynn-Aird Syndrome	Progressive sensorineural hearing impairment, Alopecia, Alopecia of scalp, Dermal atrophy	OMIM:136300
Hyperinsulinemic Hypoglycemia, Familial, 2	Hypoglycemia, Large for gestational age, Nesidioblastosis, Pancreatic islet-cell hyperplasia, Hyp...	OMIM:601820
Hepatoerythropoietic Porphyria	Scarring, Scarring alopecia of scalp, Loss of eyelashes, Keratoconjunctivitis, Seborrhoeic blepha...	ORPHA:95159
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia	Sparse scalp hair, Alopecia, Abnormal fingernail morphology, Abnormal dental enamel morphology, H...	ORPHA:2325
Ectodermal Dysplasia-Syndactyly Syndrome 1	Sparse scalp hair, Alopecia, Sparse eyelashes, Absent facial hair, Hypoplastic toenails, Coarse h...	OMIM:613573
Acrokeratosis Verruciformis	Ridged nail, Acrokeratosis, Punctate palmoplantar hyperkeratosis, Verrucous papule, Hyperkeratosis	OMIM:101900
Aredyld	Generalized hypotrichosis	OMIM:207780
Cardiofaciocutaneous Syndrome 2	Curly hair, Absent eyebrow, Posteriorly rotated ears, Fine hair, Low-set ears, Sparse hair, Ptosis	OMIM:615278
Lipoid Proteinosis Of Urbach And Wiethe	Scarring, Thickened skin, Hyperkeratosis, Patchy alopecia, Skin erosion, Skin plaque, Papule	OMIM:247100
Tetraamelia With Ectodermal Dysplasia And Lacrimal Duct Abnormalities	Preauricular pit, Absent lacrimal punctum, Sacral dimple, Hypoplastic lacrimal duct, Cryptorchidi...	OMIM:273390
Corpus Callosum, Agenesis Of, With Facial Anomalies And Cerebellar Ataxia	Thick eyebrow, Posteriorly rotated ears, Low anterior hairline, Upper eyelid edema, Protruding ea...	OMIM:616819
Palmoplantar Keratoderma And Congenital Alopecia 1	Alopecia, Brittle hair, Sparse eyebrow, Leukonychia, Nail dysplasia, Sparse hair, Palmoplantar er...	OMIM:104100
Cronkhite-Canada Syndrome	Hepatomegaly, Alopecia, Abnormal fingernail morphology, Cachexia, Hypoplastic toenails, Splenomeg...	ORPHA:2930
Sandhoff Disease, Adult Form	Elevated circulating creatine kinase concentration, Tremor, Focal dystonia, Upper limb muscle wea...	ORPHA:309169
Coffin-Siris Syndrome 8	Sparse scalp hair, Inguinal hernia, Cryptorchidism, Hypertrichosis, Long eyelashes, Thick eyebrow...	OMIM:618362
Alazami-Yuan Syndrome	Thick eyebrow, Highly arched eyebrow, Cryptorchidism, Synophrys, Low anterior hairline, Long eyel...	OMIM:617126
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant	Alopecia, Sparse eyelashes, Sparse eyebrow, Scarring alopecia of scalp, Facial erythema, Conjunct...	OMIM:612843
Donohue Syndrome	Skeletal muscle atrophy, Hypermelanotic macule, Adipose tissue loss, Hyperinsulinemia, Acanthosis...	OMIM:246200
Recon Progeroid Syndrome	Attached earlobe, Hyperconvex thumb nails, Absent lower eyelashes, Keratoconjunctivitis sicca, Mi...	OMIM:620370
Localized Junctional Epidermolysis Bullosa	Dental enamel pits, Limb joint contracture, Sparse axillary hair, Sparse pubic hair, Scarring alo...	ORPHA:251393
Hypotrichosis 12	Sparse scalp hair, Dry hair, Slow-growing hair, Sparse axillary hair, Abnormal sweat gland morpho...	OMIM:615885
Epidermolysis Bullosa Simplex With Muscular Dystrophy	Ptosis, Alopecia, Aplasia/Hypoplasia of the skin, Abnormal dental enamel morphology, Hyperconvex ...	ORPHA:257
Monilethrix	Alopecia, Brittle hair, Abnormality of hair texture, Nail dystrophy, Nail dysplasia, Sparse hair	OMIM:158000
Mandibulofacial Dysostosis With Alopecia	Preauricular pit, Alopecia, Sparse eyelashes, Cupped ear, Wide nasal bridge, Lower eyelid colobom...	OMIM:616367
Palmoplantar Keratoderma And Woolly Hair	Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Leukonychia, Woolly hair, Sparse body hair	OMIM:616099
Ectodermal Dysplasia 15, Hypohidrotic/Hair Type	Sparse scalp hair, Sparse eyelashes, Slow-growing hair, Sparse hair, Dry skin, Blepharitis, Spars...	OMIM:618535
Alopecia-Contractures-Dwarfism Mental Retardation Syndrome	Generalized hypoplasia of dental enamel, Alopecia, Telecanthus, Flexion contracture, Large fleshy...	OMIM:203550
Ectodermal Dysplasia/Skin Fragility Syndrome	Absent eyebrow, Absent eyelashes, Nail dystrophy, Scaling skin, Sparse hair, Alopecia of scalp, D...	OMIM:604536
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked	Absent eyebrow, Brittle hair, Absent nipple, Sparse eyelashes, Concave nail, Absent eyelashes, Sp...	OMIM:305100
Cardiomyopathy, Dilated, 1I	Dilated cardiomyopathy, Cardiomegaly	OMIM:604765
Mitochondrial Complex I Deficiency, Nuclear Type 39	Hypospadias, Cardiomegaly, Cryptorchidism, Perimembranous ventricular septal defect, Atrial septa...	OMIM:620135
Craniodigital-Intellectual Disability Syndrome	Thick hair, Abnormal hair pattern, Long eyelashes, Short nose, Generalized hirsutism, Thick eyebrow	ORPHA:1514
Arthrochalasia Ehlers-Danlos Syndrome	Epicanthus, Inguinal hernia, Femoral hernia, Abnormality of subcutaneous fat tissue, Scarring, Th...	ORPHA:1899
Angioma Serpiginosum, X-Linked	Sparse hair, Nail dystrophy, Fine hair	OMIM:300652
Nicolaides-Baraitser Syndrome	Alopecia, Curly eyelashes, Highly arched eyebrow, Abnormal hair pattern, Cryptorchidism, Blepharo...	ORPHA:3051
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Elevated hepatic transaminase, Skeletal muscle atrophy, Hepatomegaly, Hypoglycemia, Elevated circ...	ORPHA:42
Piebald Trait-Neurologic Defects Syndrome	Macule, Abnormal eyebrow morphology, Hypopigmentation of hair, Abnormal eyelash morphology, Senso...	ORPHA:2885
Insulin Autoimmune Syndrome	Nonketotic hypoglycemia, Reactive hypoglycemia, Insulin resistance, Insulin-resistant diabetes me...	ORPHA:411593
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency	Axial hypotonia, Hypoglycemia, Hypertonia, Failure to thrive, Anemia	OMIM:610090
Mandibuloacral Dysplasia With Type A Lipodystrophy	Abnormal eyebrow morphology, Alopecia, Absent eyelashes, Flexion contracture, Lack of skin elasti...	ORPHA:90153
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation	Non-obstructive azoospermia, Increased circulating gonadotropin level, Abnormal spermatogenesis, ...	ORPHA:399805
Flynn-Aird Syndrome	Skeletal muscle atrophy, Alopecia, Cachexia, Bone cyst, Skin ulcer, Dermal atrophy, Type II diabe...	ORPHA:2047
Cutis Laxa, Autosomal Recessive, Type Iiia	Inguinal hernia, Cryptorchidism, Cutis laxa, Thin skin, Low-set ears, Sparse hair, Umbilical hern...	OMIM:219150
Ataxia-Telangiectasia	Elevated hepatic transaminase, Skeletal muscle atrophy, Hypopigmentation of hair, Aplasia/Hypopla...	ORPHA:100
Intellectual Developmental Disorder, X-Linked, Syndromic 32	Macroorchidism, Cardiomegaly	OMIM:300886
Hypogonadism, Male	Male hypogonadism, Micropenis, Hypospadias, Testicular atrophy	OMIM:241100
Fibrodysplasia Ossificans Progressiva	Alopecia, Subcutaneous nodule, Hearing impairment	ORPHA:337
Hypertrichosis Cubiti	Abnormal nasolacrimal system morphology, Abnormal eyelid morphology, Abnormal eyelash morphology,...	ORPHA:2220
Blepharocheilodontic Syndrome 1	Lagophthalmos, Ectropion of lower eyelids, Euryblepharon, Small nail, Nail dysplasia, Sparse hair...	OMIM:119580
Choroidal Atrophy-Alopecia Syndrome	Abnormal fingernail morphology, Supernumerary nipple, Bifid nail, Fine hair, Sparse or absent eye...	ORPHA:1433
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Elevated hepatic transaminase, Skeletal muscle atrophy, Hepatomegaly, Elevated circulating creati...	OMIM:615895
Rombo Syndrome	Abnormal eyelash morphology, Abnormal eyebrow morphology	OMIM:180730
Hutchinson-Gilford Progeria Syndrome	High-frequency sensorineural hearing impairment, Absent eyebrow, Alopecia totalis, Hypermelanotic...	ORPHA:740
Familial Cervical Artery Dissection	Diabetes mellitus, Facial palsy, Abnormality of connective tissue, Thin skin, Striae distensae	ORPHA:36382
Woolly Hair	Hypopigmentation of hair, Brittle hair, Slow-growing hair, Abnormality of hair texture, Fine hair...	ORPHA:170
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii	Alopecia, Posteriorly rotated ears, Long nose, Cryptorchidism, Loss of eyelashes, Abnormal tragus...	ORPHA:2636
Ichthyosis Hystrix Of Curth-Macklin	Diffuse palmoplantar hyperkeratosis, Flexion contracture, Hyperkeratosis, Nail dystrophy, Ichthyosis	ORPHA:79503
Parana Hard Skin Syndrome	Hyperkeratosis, Thickened skin, Generalized hirsutism	ORPHA:2812
Neurodevelopmental Disorder With Variable Motor And Language Impairment	Epicanthus, Posteriorly rotated ears, Prominent crus of helix, Synophrys, Widow's peak, Upper eye...	OMIM:617804
8Q22.1 Microdeletion Syndrome	Telecanthus, Sparse eyelashes, Underfolded helix, Abnormal hair pattern, Highly arched eyebrow, S...	ORPHA:178303
Hypohidrotic Ectodermal Dysplasia	Abnormal hair quantity, Slow-growing hair, Aplasia/Hypoplasia of the eyebrow, Keratoconjunctiviti...	ORPHA:238468
Ablepharon Macrostomia Syndrome	Omphalocele, Absent eyebrow, Ablepharon, Camptodactyly of finger, Abnormal hair pattern, Redundan...	ORPHA:920
Brooke-Spiegler Syndrome	Skin appendage neoplasm, Hearing impairment, Salivary gland neoplasm, Skin-colored papule, Skin n...	ORPHA:79493
Dystonia 4, Torsion, Autosomal Dominant	Torticollis, Generalized dystonia, Hemidystonia, Torsion dystonia, Limb dystonia, Slender build	OMIM:128101
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Intermediate Form	Plantar hyperkeratosis, Hypermelanotic macule, Spotty hypopigmentation, Hyperkeratosis, Hypomelan...	ORPHA:79399
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Hepatomegaly, Hypoglycemia, Hypotonia	OMIM:609016
Blepharonasofacial Malformation Syndrome	Epicanthus, Telecanthus, Inguinal hernia, Redundant skin, Hearing impairment, Abnormal eyelash mo...	ORPHA:1252
Noonan Syndrome 6	Curly hair, Epicanthus, Long eyebrows, Cryptorchidism, Bilateral ptosis, Sensorineural hearing im...	OMIM:613224
Dystonia 30	Torticollis, Writer's cramp, Leg dystonia, Arm dystonia, Dystonia, Oromandibular dystonia	OMIM:619291
Ectodermal Dysplasia 13, Hair/Tooth Type	Brittle hair, Sparse eyelashes, Low anterior hairline, Wide nasal bridge, Thin eyebrow, Downslant...	OMIM:617392
Congenital Glucokinase-Related Hyperinsulinism	Fasting hyperinsulinemia, Abnormal circulating C-peptide concentration, Hand tremor, Recurrent hy...	ORPHA:79299
Slc39A13-Related Spondylodysplastic Ehlers-Danlos Syndrome	Osteopenia, Thenar muscle atrophy, Flexion contracture, Thin skin, Failure to thrive	ORPHA:157965
Exostoses-Anetodermia-Brachydactyly Type E Syndrome	Macule, Aplasia/Hypoplasia of the skin, Dermal atrophy	ORPHA:1962
Gand Syndrome	Sparse hair, Narrow palpebral fissure, Wide nasal bridge, Blepharophimosis	OMIM:615074
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2	Coarse hair, Thickened helices, Sparse hair, Preauricular pit, Highly arched eyebrow, Cryptorchid...	OMIM:617506
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome	Sparse scalp hair, Hepatomegaly, Sparse eyelashes, Abnormal dental enamel morphology, Portal hype...	ORPHA:59303
Alopecia Antibody Deficiency	Abnormal eyelash morphology, Sparse hair, Conductive hearing impairment, Sparse body hair, Aplasi...	ORPHA:1006
Acrofacial Dysostosis, Palagonia Type	Aplasia/Hypoplasia of the skin, Sparse eyelashes, Posteriorly rotated ears, Abnormal eyelid morph...	ORPHA:1787
Multicentric Reticulohistiocytosis	Skin nodule, Cachexia, Histiocytosis	ORPHA:139436
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency	Osteopenia, Skeletal muscle atrophy, Severe muscular hypotonia, Elevated circulating creatine kin...	ORPHA:300179
Porokeratosis Of Mibelli	Hyperkeratosis, Aplasia/Hypoplasia of the skin, Porokeratosis	ORPHA:735
Congenital Erythropoietic Porphyria	Scarring, Increased connective tissue, Scarring alopecia of scalp, Loss of eyelashes, Keratoconju...	ORPHA:79277
Absence Of Fingerprints-Congenital Milia Syndrome	Milia, Thickened skin, Camptodactyly of finger, Thin skin	ORPHA:1658
Congenital Panfollicular Nevus	Hyperkeratosis, Skin nodule, Verrucous papule	ORPHA:139414
Distal Duplication 6P	Abnormal hair quantity, Sacral dimple, Abnormal eyelash morphology, Aplasia/Hypoplasia of the ear...	ORPHA:1745
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome	Sparse scalp hair, Alopecia, Absent eyebrow, Palpebral edema, Absent eyelashes, Hydrocele testis,...	ORPHA:69735
Palmoplantar Keratoderma, Norrbotten Recessive Type	Hyperkeratosis, Palmoplantar keratoderma, Papule	OMIM:244850
Keratoderma Hereditarium Mutilans	Alopecia, Sensorineural hearing impairment, Abnormal toenail morphology, Abnormality of the nail,...	ORPHA:494
Glass Syndrome	Inguinal hernia, Posteriorly rotated ears, Long nose, Long eyelashes, Thin skin, Nail dysplasia, ...	OMIM:612313
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy	Nonprogressive muscular atrophy, Distal amyotrophy, Hypotonia, Cachexia	ORPHA:1216
Waardenburg Syndrome, Type 4B	White eyelashes, White eyebrow, Sensorineural hearing impairment, Hypopigmented skin patches, Pre...	OMIM:613265
Congenital Muscular Dystrophy Due To Lmna Mutation	Skeletal muscle atrophy, Cachexia, Flexion contracture, Hypotonia, Myopathy	ORPHA:157973
Blepharo-Cheilo-Odontic Syndrome	Abnormal hair quantity, Epidermoid cyst, Abnormal eyelid morphology, Ectropion of lower eyelids, ...	ORPHA:1997
Hyperinsulinism Due To Hnf1A Deficiency	Hepatomegaly, Small for gestational age, Ketotic hypoglycemia, Maternal diabetes, Large for gesta...	ORPHA:324575
Ichthyosis, Congenital, Autosomal Recessive 13	Ichthyosis, Hyperkeratosis, Hypergranulosis, Palmoplantar hyperkeratosis	OMIM:617574
Epidermolysis Bullosa Simplex 1C, Localized	Hyperkeratosis, Milia	OMIM:131800
Cerebellar Ataxia-Ectodermal Dysplasia Syndrome	Sparse hair, Cryptorchidism, Inguinal hernia, Fine hair	ORPHA:1174
Neurodevelopmental Disorder With Speech Delay And Variable Ocular Anomalies	Epicanthus, Hearing impairment, Sparse eyebrow, Low-set ears, Sparse hair, Downslanted palpebral ...	OMIM:619989
Short Stature Due To Ghsr Deficiency	Hypoglycemia, Abnormality of body weight, Decreased body weight	ORPHA:314811
Developmental And Epileptic Encephalopathy 23	Double eyebrow, Telecanthus, Abnormal pinna morphology, Synophrys, Low anterior hairline, Long ey...	OMIM:615859
Palmoplantar Keratoderma, Nonepidermolytic, Focal 1	Perioral hyperkeratosis, Palmoplantar keratoderma, Follicular hyperkeratosis, Congenital bullous ...	OMIM:613000
Juvenile Amyotrophic Lateral Sclerosis	Axial dystonia, Lower limb spasticity, Skeletal muscle atrophy, Muscle fiber atrophy, Cachexia, H...	ORPHA:300605
Zimmermann-Laband Syndrome 2	Thick eyebrow, Synophrys, Widow's peak, Sensorineural hearing impairment, Long eyelashes, Anonych...	OMIM:616455
Dystonia, Early-Onset, And/Or Spastic Paraplegia	Laryngeal dystonia, Spastic paraplegia, Lower limb muscle weakness, Dystonia	OMIM:619681
Mandibuloacral Dysplasia With Type B Lipodystrophy	Alopecia, Abnormal hair morphology, Generalized lipodystrophy, Nail dystrophy, Thin skin, Dermal ...	ORPHA:90154
Centrifugal Lipodystrophy	Reduced subcutaneous adipose tissue, Alopecia, Lipoatrophy, Lack of facial subcutaneous fat, Abse...	ORPHA:90156
Dystonia 25	Lingual dystonia, Torticollis, Laryngeal dystonia, Limb dystonia	OMIM:615073
Porphyria Cutanea Tarda	Facial hypertrichosis, Alopecia, Onycholysis	OMIM:176100
Johnson Neuroectodermal Syndrome	Absent eyebrow, Alopecia, Absent eyelashes, Conductive hearing impairment, Protruding ear, Multip...	ORPHA:2316
Atypical Werner Syndrome	Sclerosis of hand bone, Skeletal muscle atrophy, Abnormal hair whorl, Fasting hyperinsulinemia, R...	ORPHA:79474
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency	Aplasia/Hypoplasia of the skin, Thin skin, Skin ulcer, Purpura	ORPHA:743
Hyperkeratosis-Hyperpigmentation Syndrome	Multiple cafe-au-lait spots, Hyperkeratosis, Papule	ORPHA:1336
Schöpf-Schulz-Passarge Syndrome	Sparse hair, Alopecia, Aplasia/Hypoplasia of the eyebrow, Ovarian neoplasm	ORPHA:50944
Renpenning Syndrome	Abnormal hairshaft morphology, Alopecia, Skeletal muscle atrophy, Diabetes mellitus, Cachexia, Th...	ORPHA:3242
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency	Osteopenia, Hepatomegaly, Elevated hepatic transaminase, Hypoglycemia, Osteoporosis, Hypotonia, I...	ORPHA:369
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis	Alopecia, Sparse eyelashes, Sparse eyebrow, Nail dysplasia, Joint contracture	OMIM:615704
Uncombable Hair Syndrome	Abnormal hair morphology, White hair, Coarse hair, Patchy alopecia, Trichodysplasia, Woolly hair	ORPHA:1410
Dystonia 33	Axial dystonia, Limb dystonia, Axial hypotonia, Dystonia, Spasticity	OMIM:619687
Spastic Paraplegia With Neuropathy And Poikiloderma	Absent eyelashes, Absent eyebrow	OMIM:182815
Encephalopathy Due To Prosaposin Deficiency	Hepatomegaly, Splenomegaly, Hypotonia, Dystonia	ORPHA:139406
Majeed Syndrome	Hepatomegaly, Increased bone mineral density, Cachexia, Congenital hypoplastic anemia, Splenomega...	ORPHA:77297
Severe Neurodegenerative Syndrome With Lipodystrophy	Reduced subcutaneous adipose tissue, Hepatomegaly, Reduced intraabdominal adipose tissue, Tremor,...	ORPHA:363400
Christianson Syndrome	Decreased muscle mass, Cachexia, Dystonia, Arthrogryposis multiplex congenita, Thick eyebrow	ORPHA:85278
Ichthyosis, Congenital, Autosomal Recessive 11	Curly hair, Brittle hair, Sparse eyelashes, Curly eyelashes, Sparse eyebrow, Sparse body hair, Sp...	OMIM:602400
Nabais Sa-De Vries Syndrome, Type 1	Epicanthus, Telecanthus, Sacral dimple, Highly arched eyebrow, Synophrys, Low anterior hairline, ...	OMIM:618828
Ectodermal Dysplasia With Mental Retardation And Syndactyly	Sparse eyebrow, Onychogryposis of toenails, Wide nasal bridge, Long palpebral fissure, Dry skin, ...	OMIM:600906
Syndromic X-Linked Intellectual Disability 7	Cryptorchidism, Sparse body hair	ORPHA:85274
Trichothiodystrophy 4, Nonphotosensitive	Epicanthus, Brittle hair, Sparse eyelashes, Abnormality of hair texture, Concave nail, Keratoconj...	OMIM:234050
Oculocerebrocutaneous Syndrome	Alopecia, Focal dermal aplasia/hypoplasia, Cryptorchidism, Orbital cyst, Eyelid coloboma	OMIM:164180
Waardenburg Syndrome, Type 2A	White eyelashes, White eyebrow, Albinism, Synophrys, Sensorineural hearing impairment, Wide nasal...	OMIM:193510
Björnstad Syndrome	Alopecia, Brittle hair, Sensorineural hearing impairment	ORPHA:123
Zellweger-Like Syndrome Without Peroxisomal Anomalies	Epicanthus, Alopecia, Brittle hair, Wide nasal bridge, Upslanted palpebral fissure	ORPHA:50812
Short Syndrome	Inguinal hernia, Lipoatrophy, Lipodystrophy, Small for gestational age, Insulin resistance, Absen...	OMIM:269880
Barber-Say Syndrome	Ablepharon, Telecanthus, Aplasia/Hypoplasia of the skin, Abnormal pinna morphology, Redundant ski...	ORPHA:1231
Hyperinsulinism Due To Insr Deficiency	Hypoglycemia, Insulin resistance, Fasting hyperinsulinemia, Abnormal circulating C-peptide concen...	ORPHA:263458
Focal Facial Dermal Dysplasia Type Ii	Abnormal pinna morphology, Trichiasis, Sparse eyebrow, Absent earlobe, Ectropion of lower eyelids...	ORPHA:398173
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma	Conjunctival telangiectasia, Alopecia, Hypermelanotic macule, Multinodular goiter, Dry skin, Hypo...	OMIM:618373
Ablepharon-Macrostomia Syndrome	Ventral hernia, Absent eyebrow, Ablepharon, Microtia, third degree, Hypoplasia of eyelid, Omphalo...	OMIM:200110
Glycogen Storage Disease Vi	Elevated hepatic transaminase, Hepatomegaly, Failure to thrive in infancy, Hypoglycemia, Increase...	OMIM:232700
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome	Alopecia, Hypopigmentation of hair, Ptosis	ORPHA:1067
Pontocerebellar Hypoplasia Type 10	Long palpebral fissure, Long eyelashes, Wide nasal bridge, Highly arched eyebrow	ORPHA:411493
Aplasia Cutis Congenita Of Limbs, Autosomal Recessive	Aplasia cutis congenita, Congenital absence of skin of limbs	OMIM:600360
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)	Cachexia, Ragged-red muscle fibers, Hypotonia, Weight loss, Generalized hypotonia, Slender build	OMIM:613662
Chromosome 19Q13.11 Deletion Syndrome, Distal	Reduced subcutaneous adipose tissue, Inguinal hernia, Sparse eyelashes, Blepharophimosis, Sparse ...	OMIM:613026
Pituitary Adenoma 4, Acth-Secreting	Skeletal muscle atrophy, Striae distensae, Impaired glucose tolerance, Pituitary adenoma, Osteopo...	OMIM:219090
Short Chain Acyl-Coa Dehydrogenase Deficiency	Ketotic hypoglycemia, Myopathy, Hypertonia, Dystonia, Failure to thrive, Hepatic steatosis, Infan...	ORPHA:26792
Waardenburg-Shah Syndrome	Abnormal eyebrow morphology, Hypopigmentation of hair, Telecanthus, White eyelashes, White eyebro...	ORPHA:897
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency	Fatty replacement of skeletal muscle, Obesity, Proximal muscle weakness in lower limbs, Fasting h...	ORPHA:171706
Dowling-Degos Disease 2	Hyperkeratotic papule, Hypomelanotic macule, Follicular hyperkeratosis	OMIM:615327
Mantle Cell Lymphoma	Splenomegaly, Weight loss, Lymphadenopathy	ORPHA:52416
Vogt-Koyanagi-Harada Disease	Abnormal eyebrow morphology, Sparse scalp hair, Poliosis, Abnormal eyelash morphology, Sensorineu...	ORPHA:3437
Mehmo Syndrome	Axial hypotonia, Small for gestational age, Decreased response to growth hormone stimulation test...	OMIM:300148
Microcephaly, Cataracts, Impaired Intellectual Development, And Dystonia With Abnormal Striatum	Cogwheel rigidity, Hypertonia, Dystonia, Decreased body weight, Spastic gait	OMIM:618284
Epidermolysis Bullosa Dystrophica, Pretibial	Hyperkeratosis, Atrophic scars, Nail dystrophy	OMIM:131850
Mitochondrial Complex I Deficiency, Nuclear Type 23	Skeletal muscle atrophy, Hypotonia, Generalized hypotonia, Dystonia, Hypertrichosis	OMIM:618244
Ehlers-Danlos Syndrome With Platelet Dysfunction From Fibronectin Abnormality	Atypical scarring of skin, Petechiae, Thin skin, Striae distensae	OMIM:225310
X-Linked Ehlers-Danlos Syndrome	Umbilical hernia, Inguinal hernia, Thin skin, Hernia	ORPHA:75497
Neonatal Hemochromatosis	Increased circulating ferritin concentration, Congenital hepatic fibrosis, Hypoglycemia, Prolonge...	ORPHA:446
Hypotrichosis 3	Abnormal eyelash morphology, Sparse scalp hair, Abnormality of the nail, Abnormal sweat gland mor...	OMIM:613981
Ichthyosis With Alopecia, Eclabium, Ectropion, And Mental Retardation	Alopecia, Ectropion	OMIM:242510
Fetal Encasement Syndrome	Omphalocele, Thin skin, Congenital diaphragmatic hernia	OMIM:613630
Trichothiodystrophy 8, Nonphotosensitive	Sparse eyebrow, Protruding ear, Cutis laxa, Sparse hair, Woolly hair, Trichorrhexis nodosa	OMIM:619691
Reticulate Acropigmentation Of Kitamura	Macule, Hyperkeratosis	OMIM:615537
Heyn-Sproul-Jackson Syndrome	Sparse hair, Epicanthus	OMIM:618724
Waardenburg Syndrome Type 1	Hypopigmentation of hair, Telecanthus, White eyelashes, White eyebrow, Hearing impairment, Abnorm...	ORPHA:894
Woolly Hair, Autosomal Dominant	Abnormal eyebrow morphology, Dry hair, Slow-growing hair, Abnormal eyelash morphology, Coarse hai...	OMIM:194300
Primary Dystonia, Dyt17 Type	Torticollis, Generalized dystonia, Craniofacial dystonia	ORPHA:370103
Xeroderma Pigmentosum	Conjunctival telangiectasia, Macule, Alopecia, Entropion, Hypermelanotic macule, Hearing impairme...	ORPHA:910
Even-Plus Syndrome	Highly arched eyebrow, Synophrys, Microtia, Sparse hair, Aplasia cutis congenita, Short nose	OMIM:616854
Tietz Albinism-Deafness Syndrome	Congenital sensorineural hearing impairment, White eyelashes, White eyebrow	OMIM:103500
Trichodental Dysplasia	Brittle hair, Slow-growing hair, Odontodysplasia, Fine hair, Sparse hair	OMIM:601453
Glycogen Storage Disease Ixb	Hepatomegaly, Hypoglycemia, Splenomegaly, Hypotonia, Increased muscle glycogen content, Increased...	OMIM:261750
Rhizomelic Chondrodysplasia Punctata	Alopecia, Epicanthus, Dry skin, Sparse body hair	ORPHA:177
3-Methylglutaconic Aciduria Type 4	Hypoglycemia, Hypotonia, Decreased liver function, Spasticity, Failure to thrive, Thrombocytopenia	ORPHA:67048
Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome	Congenital alopecia totalis, Sparse eyebrow, Dry skin, Absent pubic hair, Cutis laxa, Scaling ski...	ORPHA:2269
Marshall-Smith Syndrome	Conductive hearing impairment, Short nose, Generalized hirsutism, Thin skin	ORPHA:561
Cortisone Reductase Deficiency 1	Alopecia, Hirsutism	OMIM:604931
Epidermolysis Bullosa With Congenital Localized Absence Of Skin And Deformity Of Nails	Nail dystrophy, Congenital localized absence of skin	OMIM:132000
Premature Aging Syndrome, Penttinen Type	Failure to thrive, Lipoatrophy, Thickened skin, Skin nodule, Osteoporosis, Palmoplantar hyperkera...	OMIM:601812
Progressive Nodular Histiocytosis	Cachexia, Subcutaneous nodule, Papule	ORPHA:158022
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome	Reduced subcutaneous adipose tissue, Absent eyebrow, Alopecia, Sparse scalp hair, Sparse eyelashe...	OMIM:137940
Keratosis Follicularis Spinulosa Decalvans, X-Linked	Sparse eyelashes, Sparse eyebrow, Scarring alopecia of scalp, Facial erythema, Conjunctivitis, Na...	OMIM:308800
Kaufman Oculocerebrofacial Syndrome	Epicanthus, Telecanthus, Abnormal pinna morphology, Blepharophimosis, Sparse eyebrow, Upslanted p...	OMIM:244450
Mitochondrial Neurogastrointestinal Encephalomyopathy	Elevated hepatic transaminase, Decreased muscle mass, Foot dorsiflexor weakness, Cachexia, Ragged...	ORPHA:298
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Hepatomegaly, Alopecia, Parakeratosis, Sparse eyelashes, Thick hair, Portal hypertension, Sparse ...	OMIM:607626
Piebaldism	Macule, Hypopigmentation of hair, White eyelashes, White eyebrow, Synophrys, Piebaldism, Wide nas...	ORPHA:2884
Smith-Kingsmore Syndrome	Curly hair, Hypoglycemia, Diastasis recti, Large for gestational age, Cryptorchidism, Wide anteri...	OMIM:616638
Erythrokeratoderma ''En Cocardes''	Hyperkeratosis, Papule	ORPHA:315
Hypomelanosis Of Ito	Epicanthus, Alopecia, Macular hypopigmented whorls, streaks, and patches	OMIM:300337
Palmoplantar Keratoderma, Punctate Type Iii	Hyperkeratosis, Acrokeratosis	OMIM:101850
De Barsy Syndrome	Epicanthus, Inguinal hernia, Lipodystrophy, Cryptorchidism, Cutis laxa, Large earlobe, Excessive ...	ORPHA:2962
Hypotrichosis 13	Sparse hair, Woolly hair, Sparse eyelashes, Abnormal sweat gland morphology	OMIM:615896
Monosomy 18P	Epicanthus, Alopecia, Wide nasal bridge, Low posterior hairline, Protruding ear, Abnormal antihel...	ORPHA:1598
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3	Camptodactyly of finger, Cigarette-paper scars, Thin skin, Webbed neck, Joint contracture of the ...	OMIM:612350
Hemifacial Atrophy, Progressive	Poliosis, Horner syndrome, Patchy alopecia, Microtia, Blepharophimosis	OMIM:141300
Mulibrey Nanism	Hepatomegaly, Cachexia	ORPHA:2576
Hyperinsulinemic Hypoglycemia, Familial, 7	Hypoglycemia, Hyperinsulinemia, Hypoglycemic seizures, Pancreatic islet-cell hyperplasia, Hyperin...	OMIM:610021
Mcdonough Syndrome	Cryptorchidism, Synophrys, Aplasia/Hypoplasia of the abdominal wall musculature, Cachexia	ORPHA:2471
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2	Osteopenia, Hip contracture, Facial hypotonia, Failure to thrive in infancy, Cachexia, Appendicul...	OMIM:616801
Non-Distal Duplication 13Q	Abnormal fingernail morphology, Abnormal eyelash morphology, Cryptorchidism, Synophrys, Hypoplast...	ORPHA:1702
Mitochondrial Complex Iv Deficiency, Nuclear Type 4	Hepatomegaly, Axial hypotonia, Hypoglycemia, Elevated circulating aspartate aminotransferase conc...	OMIM:619048
Acrofacial Dysostosis Syndrome Of Rodriguez	Deep-set nails, Posteriorly rotated ears, Wide nasal bridge, Thin skin, Low-set ears	OMIM:201170
Mitochondrial Complex Iii Deficiency, Nuclear Type 3	Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Hypoglycemia, Elevated...	OMIM:615158
Focal Dermal Hypoplasia	Omphalocele, Macule, Alopecia, Inguinal hernia, Aplasia/Hypoplasia of the skin, Abnormal dental e...	ORPHA:2092
Hypoinsulinemic Hypoglycemia With Hemihypertrophy	Hypoglycemia, Large for gestational age, Obesity, Truncal obesity, Fasting hypoglycemia, Hypoinsu...	OMIM:240900
Aicardi-Goutieres Syndrome 3	Elevated hepatic transaminase, Hypotonia, Hepatosplenomegaly, Generalized hypotonia, Dystonia, Sp...	OMIM:610329
Isolated Follicle Stimulating Hormone Deficiency	Decreased serum testosterone concentration, Hyperplasia of the Leydig cells, Decreased female lib...	ORPHA:52901
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome	Preauricular pit, Epicanthus, Alopecia, Hyperpigmented papule, Flexion contracture, Camptodactyly	ORPHA:88630
Ramon Syndrome	Diabetes mellitus, Abnormal dental enamel morphology, Osteolysis, Hyperkeratosis, Failure to thri...	ORPHA:3019
Cardiocranial Syndrome, Pfeiffer Type	Low-set, posteriorly rotated ears, Contracture of the proximal interphalangeal joint of the 2nd f...	ORPHA:2872
Palmoplantar Keratoderma, Nagashima Type	Orthokeratotic hyperkeratosis, Hypergranulosis, Palmoplantar hyperkeratosis	OMIM:615598
Bathing Suit Ichthyosis	Alopecia, Multiple joint contractures, Palmoplantar scaling skin, Nail dystrophy, Scaling skin, S...	ORPHA:100976
Acquired Hypertrichosis Lanuginosa	Abnormal eyebrow morphology, Hypopigmentation of hair, Thickened skin, Fine hair, Lymphadenopathy...	ORPHA:2221
Gaucher Disease Type 2	Hepatomegaly, Splenomegaly, Flexion contracture, Dystonia, Spasticity	ORPHA:77260
Primary Dystonia, Dyt13 Type	Torticollis, Generalized dystonia, Postural tremor, Dystonia, Torsion dystonia, Focal dystonia, L...	ORPHA:98807
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome	Alopecia, Abnormal dental enamel morphology, Highly arched eyebrow, Synophrys, Wide nasal bridge,...	ORPHA:3253
Severe Hereditary Thrombophilia Due To Congenital Protein C Deficiency	Aplasia/Hypoplasia of the skin, Thin skin, Purpura	ORPHA:745
Waardenburg Syndrome, Type 4A	White eyelashes, White eyebrow, Sensorineural hearing impairment, Hypopigmented skin patches, Pre...	OMIM:277580
Dystonia 6, Torsion	Torticollis, Writer's cramp, Torsion dystonia, Limb dystonia, Oromandibular dystonia, Lingual dys...	OMIM:602629
Adams-Oliver Syndrome 2	Alopecia, Low anterior hairline, Protruding ear, Narrow palpebral fissure, Small nail, Low-set ea...	OMIM:614219
Glycogen Storage Disease Iii	Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Elevated circulating creatine kinase c...	OMIM:232400
Intellectual Developmental Disorder, Autosomal Dominant 65	Posteriorly rotated ears, Synophrys, Wide nasal bridge, Low posterior hairline, Upslanted palpebr...	OMIM:619320
Cerebroretinal Microangiopathy With Calcifications And Cysts 1	Osteopenia, Tremor, Thrombocytopenia, Osteoporosis, Fine hair, Premature graying of hair, Thin sk...	OMIM:612199
Hypoglycemia, Leucine-Induced	Spasticity, Hypoglycemia, Hyperinsulinemic hypoglycemia	OMIM:240800
Severe Intellectual Disability-Corpus Callosum Agenesis-Facial Dysmorphism-Cerebellar Ataxia Syndrome	Low-set, posteriorly rotated ears, Thick eyebrow, Palpebral edema, Highly arched eyebrow, Low ant...	ORPHA:466688
Dyschromatosis Symmetrica Hereditaria	Macule, Torsion dystonia	ORPHA:41
Isolated Growth Hormone Deficiency, Type Ia	Hypoglycemia, Prolonged neonatal jaundice	OMIM:262400
Hemochromatosis, Type 1	Hepatomegaly, Diabetes mellitus, Hypogonadotropic hypogonadism, Cardiomegaly, Splenomegaly, Azoos...	OMIM:235200
Ectodermal Dysplasia, Ectrodactyly, And Macular Dystrophy Syndrome	Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Camptodactyly, Joint contracture of the hand	OMIM:225280
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia	Ridged nail, Absent eyebrow, Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Unilateral deaf...	ORPHA:1010
Silver-Russell Syndrome 2	Thin skin, Neonatal hypoglycemia	OMIM:618905
Spinocerebellar Ataxia Type 32	Male infertility, Azoospermia, Testicular atrophy	ORPHA:276183
Ichthyosis, Hystrix-Like, With Deafness	Sparse scalp hair, Sparse eyelashes, Absent eyelashes, Scarring alopecia of scalp, Sparse eyebrow...	OMIM:602540
Testicular Regression Syndrome	Decreased testicular size, Abnormal male internal genitalia morphology, Hypoplasia of penis, Male...	ORPHA:983
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy	Skeletal muscle atrophy, Hypotonia, Type 1 muscle fiber predominance, Dystonia, Spasticity, Failu...	OMIM:618276
Linear Skin Defects With Multiple Congenital Anomalies 2	Posteriorly rotated ears, Congenital diaphragmatic hernia, Highly arched eyebrow, Asymmetric, lin...	OMIM:300887
Frontonasal Dysplasia 3	Absent eyebrow, Posteriorly rotated ears, Sparse eyelashes, Wide nasal bridge, Upper eyelid colob...	OMIM:613456
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1	Scapular winging, Pelvic girdle muscle atrophy, Pelvic girdle amyotrophy, Facial palsy, Elevated ...	OMIM:167320
Neuropathy, Congenital Hypomyelinating, 3	Limb joint contracture, Cachexia, Flexion contracture, Facial diplegia, Dystonia, Neonatal death,...	OMIM:618186
Spinocerebellar Ataxia 32	Azoospermia, Testicular atrophy, Infertility	OMIM:613909
Ermine Phenotype	White eyelashes, White eyebrow, Albinism, Sensorineural hearing impairment, White hair	OMIM:227010
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)	Axial hypotonia, Cachexia, Hypotonia, Weight loss, Generalized hypotonia, Failure to thrive	OMIM:612075
X-Linked Intellectual Disability-Global Development Delay-Facial Dysmorphism-Sacral Caudal Remnant Syndrome	Epicanthus, Synophrys, Protruding ear, Long eyelashes, Low-set ears, Lipoma, Downslanted palpebra...	ORPHA:480907
Acth-Independent Macronodular Adrenal Hyperplasia	Osteopenia, Skeletal muscle atrophy, Adrenal hyperplasia, Osteoporosis, Truncal obesity, Macronod...	OMIM:219080
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities	Small for gestational age, Hypoglycemia, Onychauxis, Insulin-resistant diabetes mellitus, Hyperin...	OMIM:262190
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques	Alopecia, Abnormal fingernail morphology, Sensorineural hearing impairment, Erythema, Skin ulcer,...	ORPHA:659
Primary Dystonia, Dyt27 Type	Axial dystonia, Writer's cramp, Upper limb postural tremor, Focal dystonia, Limb dystonia, Oroman...	ORPHA:464440
Ectodermal Dysplasia With Natal Teeth, Turnpenny Type	Sparse scalp hair, Sparse eyelashes, Hypoplastic pilosebaceous units, Sparse eyebrow, Hypoplastic...	OMIM:601345
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome	Multiple joint contractures, Centrally nucleated skeletal muscle fibers, Overweight, Cryptorchidi...	ORPHA:486815
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome	Congenital hypothyroidism, Cardiomegaly	ORPHA:88643
Chilblain Lupus 1	Abnormality of the nail, Skin ulcer	OMIM:610448
Ectodermal Dysplasia-Syndactyly Syndrome 2	Sparse hair, Enamel hypoplasia, Macrotia	OMIM:613576
Necrobiosis Lipoidica	Indurated nodule, Skin nodule, Erythema, Skin ulcer, Atrophic scars, Annular cutaneous lesion, Sk...	ORPHA:542592
Lamellar Ichthyosis	Lack of skin elasticity, Abnormal helix morphology, Sparse hair, Dry skin, Abnormality of the nai...	ORPHA:313
Combined Oxidative Phosphorylation Deficiency 8	Hypertrophic cardiomyopathy, Pulmonary hypoplasia, Cardiomegaly	OMIM:614096
Hereditary Palmoplantar Keratoderma, Gamborg-Nielsen Type	Hyperkeratosis with erythema, Diffuse palmoplantar hyperkeratosis	ORPHA:86923
Ichthyosis, Lamellar, Autosomal Dominant	Hyperkeratosis, Congenital nonbullous ichthyosiform erythroderma	OMIM:146750
Dystonia 27	Torticollis, Postural tremor, Writer's cramp, Limb dystonia, Oromandibular dystonia, Laryngeal dy...	OMIM:616411
Dermatoleukodystrophy	Hyperkeratosis, Thickened skin	ORPHA:1659
Ectodermal Dysplasia 11B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive	Absent eyebrow, Sparse scalp hair, Absent nipple, Sparse eyelashes, Absent eyelashes, Hypoplastic...	OMIM:614941
Bazex-Dupre-Christol Syndrome	Coarse hair, Milia, Nevus, Sparse hair, Trichoepithelioma, Pili torti, Trichorrhexis nodosa	OMIM:301845
Primary Myelofibrosis	Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Cachexia, Portal hypertension, Thromboc...	ORPHA:824
Mu-Heavy Chain Disease	Hepatomegaly, Abnormal B cell count, Splenomegaly, Osteoporosis, Osteolysis, Lymphadenopathy, Wei...	ORPHA:100024
Atrophoderma Vermiculata	Hypoplastic pilosebaceous units, Periauricular skin pits, Atrophic scars, Skin pit, Follicular hy...	ORPHA:79100
Ichthyosis Hystrix, Lambert Type	Hyperkeratosis, Orthokeratotic hyperkeratosis	OMIM:146600
Dystonia 17, Torsion, Autosomal Recessive	Torticollis, Focal dystonia	OMIM:612406
Xq27.3Q28 Duplication Syndrome	Cryptorchidism, Decreased testicular size, Sparse body hair	ORPHA:261483
Epidermolytic Palmoplantar Keratoderma	Abnormal fingernail morphology, Interphalangeal joint contracture of finger, Hypergranulosis, Epi...	ORPHA:2199
Hawkinsinuria	Sparse hair, Fine hair	ORPHA:2118
Bjornstad Syndrome	Alopecia, Brittle hair, Dry hair, Sensorineural hearing impairment, Coarse hair, Hair shafts flat...	OMIM:262000
Cornelia De Lange Syndrome 2	Thick eyebrow, Highly arched eyebrow, Synophrys, Low anterior hairline, Long eyelashes, Downslant...	OMIM:300590
Amaurosis-Hypertrichosis Syndrome	Abnormal eyelash morphology, Synophrys, Coarse hair, Thick eyebrow	ORPHA:1021
Dihydrolipoamide Dehydrogenase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Hypotonia, Decreased liver function, D...	OMIM:246900
Cardiofaciocutaneous Syndrome 4	Absent eyebrow, Curly hair, Epicanthus, Sparse eyelashes, Decreased response to growth hormone st...	OMIM:615280
Palmoplantar Keratoderma-Deafness Syndrome	Hyperkeratosis, Palmoplantar keratoderma	ORPHA:2202
Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome	Epicanthus, Alopecia, Posteriorly rotated ears, Supernumerary nipple, Sensorineural hearing impai...	ORPHA:3224
Werner Syndrome	Sparse scalp hair, Skeletal muscle atrophy, Aplasia/Hypoplasia of the skin, Lipoatrophy, Lipodyst...	ORPHA:902
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome	Reduced subcutaneous adipose tissue, Alopecia, Limb joint contracture, Melanocytic nevus, Small p...	OMIM:612079
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Increased sarcoplasm...	ORPHA:264580
Riboflavin Transporter Deficiency	Skeletal muscle atrophy, Facial palsy, Cachexia, Tremor, Hypotonia, Limb muscle weakness	ORPHA:97229
Rapadilino Syndrome	Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Narrow palpebral fissure, Blepharophimosis, ...	OMIM:266280
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	Hypoglycemia, Acute rhabdomyolysis, Camptodactyly of finger, Osteoporosis, Long eyelashes, Intent...	ORPHA:48431
Ichthyosis, Congenital, Autosomal Recessive 1	Alopecia, Flexion contracture, Nail dystrophy, Nail dysplasia, Sparse hair, Ectropion	OMIM:242300
Man1B1-Cdg	Epicanthus, Long eyebrows, Sparse eyebrow, Abnormal position of hair whorl, Wide nasal bridge, Cu...	ORPHA:397941
Immunodeficiency, Common Variable, 12, With Autoimmunity	Alopecia, Pyoderma gangrenosum	OMIM:616576
Absent Eyebrows And Eyelashes With Mental Retardation	Absent eyelashes, Absent eyebrow, Short nose	OMIM:200130
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15	Hypoglycemia, Small for gestational age, Diastasis recti, Decreased body weight, Nevus flammeus, ...	ORPHA:231140
Intellectual Developmental Disorder, Autosomal Recessive 5	Telecanthus, Blepharophimosis, Synophrys, Achilles tendon contracture, Wide nasal bridge, Sparse ...	OMIM:611091
Desmoplastic Small Round Cell Tumor	Neoplasm of the pancreas, Hepatomegaly, Abnormal peritoneum morphology, Testicular neoplasm, Cach...	ORPHA:83469
Osteogenesis Imperfecta Congenita, Microcephaly, And Cataracts	Decreased calvarial ossification, Stillbirth, Thin skin	OMIM:259410
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria	Skeletal muscle atrophy, Cachexia, Generalized hirsutism, Elevated circulating creatine kinase co...	ORPHA:1933
Bazex Syndrome	Parakeratosis, Yellow nails, Hyperkeratosis, Palmoplantar keratoderma, Nail dystrophy, Acanthosis...	ORPHA:166113
Ectodermal Dysplasia-Blindness Syndrome	Abnormal fingernail morphology, Skin ulcer, Protruding ear, Fine hair, Keratoconjunctivitis sicca...	ORPHA:1806
Dystonia With Cerebellar Atrophy	Torticollis, Craniofacial dystonia, Dystonia	OMIM:611694
Orofacial Cleft 15	Epicanthus, Sparse eyelashes, Sparse eyebrow, Cryptorchidism, Ectropion of lower eyelids, Protrud...	OMIM:616788
Neurodevelopmental Disorder With Spasticity, Seizures, And Brain Abnormalities	Posteriorly rotated ears, Flexion contracture, Protruding ear, Low-set ears, Sparse hair, Downsla...	OMIM:620001
X-Linked Hypohidrotic Ectodermal Dysplasia	Sparse hair, Anterior hypopituitarism, Sparse body hair, Aplasia/Hypoplasia of the eyebrow	ORPHA:181
Hemidystonia-Hemiatrophy Syndrome	Dystonia, Dense calvaria, Limb dystonia	ORPHA:306741
Blepharonasofacial Malformation Syndrome	Facial palsy, Torsion dystonia	OMIM:110050
Scarf Syndrome	Epicanthus, Inguinal hernia, Posteriorly rotated ears, Cryptorchidism, Low anterior hairline, Wid...	OMIM:312830
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skin Abnormalities	Elbow hypertrichosis, Epicanthus, Prominent antitragus, Protruding ear, Large earlobe, Long eyela...	OMIM:620191
Mitochondrial Complex I Deficiency, Nuclear Type 15	Flexion contracture, Spastic tetraplegia, Myopathy, Generalized hypotonia, Dystonia, Neonatal dea...	OMIM:618237
Oculocerebrocutaneous Syndrome	Skin tags, Alopecia, Aplasia/Hypoplasia of the skin, Abnormal fingernail morphology, Hearing impa...	ORPHA:1647
Galactose Epimerase Deficiency	Hepatomegaly, Splenomegaly, Jaundice, Hypotonia, Weight loss	ORPHA:79238
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency	Hypoglycemia	ORPHA:35701
Male Infertility With Teratozoospermia Due To Single Gene Mutation	Non-obstructive azoospermia, Increased circulating gonadotropin level, Abnormal sperm tail morpho...	ORPHA:399808
Rhizomelic Chondrodysplasia Punctata, Type 1	Upslanted palpebral fissure, Alopecia, Flexion contracture, Sensorineural hearing impairment	OMIM:215100
Congenital Heart Defects And Skeletal Malformations Syndrome	Medial flaring of the eyebrow, Congenital diaphragmatic hernia, Long nose, Cryptorchidism, Upslan...	OMIM:617602
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency	Hepatomegaly, Maternal diabetes, Large for gestational age, Hyperinsulinemia, Hypoglycemic seizur...	ORPHA:276580
Wiedemann-Steiner Syndrome	Elbow hypertrichosis, Synophrys, Generalized hirsutism, Brow ptosis, Highly arched eyebrow, Crypt...	OMIM:605130
Aicardi-Goutieres Syndrome 6	Hemolytic anemia, Hepatomegaly, Tremor, Rigidity, Splenomegaly, Dystonia, Thrombocytopenia	OMIM:615010
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome	Alopecia, Brittle hair, Abnormal pinna morphology, Abnormality of the anterior pituitary, Upslant...	ORPHA:75389
Mitochondrial Complex I Deficiency, Nuclear Type 33	Axial hypotonia, Small for gestational age, Hypoglycemia, Generalized hypotonia, Neutropenia, Spa...	OMIM:618253
Glycogen Storage Disease Ixd	Skeletal muscle atrophy, Hypoglycemia, Elevated circulating creatine kinase concentration, Glycog...	OMIM:300559
Acrodermatitis Enteropathica	Ridged nail, Abnormal eyebrow morphology, Alopecia, Abnormal eyelid morphology, Paronychia, Eryth...	ORPHA:37
Baralle-Macken Syndrome	Hirsutism, Obesity, Acanthosis nigricans, Dystonia, Neonatal hypotonia, Spasticity, Cafe-au-lait ...	OMIM:619255
Radio-Tartaglia Syndrome	Synophrys, Low anterior hairline, Conductive hearing impairment, Highly arched eyebrow, Wide nasa...	OMIM:619312
Rubinstein-Taybi Syndrome 2	Epicanthus, Thick eyebrow, Posteriorly rotated ears, Highly arched eyebrow, Long eyelashes, Poste...	OMIM:613684
Cushing Disease	Sparse scalp hair, Adrenal hyperplasia, Dorsocervical fat pad, Diabetes mellitus, Impaired glucos...	ORPHA:96253
Spinocerebellar Ataxia 48	Tremor, Cachexia, Dystonia	OMIM:618093
Short Stature Due To Partial Ghr Deficiency	Hypoglycemia	ORPHA:314802
Cervical Hypertrichosis-Peripheral Neuropathy Syndrome	Generalized hirsutism, Skin ulcer	ORPHA:2218
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Elevated hepatic transaminase, Alopecia, Psoriasiform dermatitis, Myositis, Autoimmune hemolytic ...	ORPHA:37042
Lipodystrophy, Familial Partial, Type 7	Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Sparse scalp h...	OMIM:606721
Hereditary Acrokeratotic Poikiloderma	Camptodactyly of finger, Hearing impairment, Erythema, Hypopigmented skin patches, Skin ulcer, Ke...	ORPHA:2907
Dwarfism, Low-Birth-Weight Type, With Unresponsiveness To Growth Hormone	Hypoglycemia	OMIM:223500
Scarf Syndrome	Low-set, posteriorly rotated ears, Epicanthus, Inguinal hernia, Cryptorchidism, Low posterior hai...	ORPHA:3134
Diarrhea 13	Elevated hepatic transaminase, Recurrent hypoglycemia, Hypoalbuminemia, Failure to thrive, Hepati...	OMIM:620357
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome	Brittle hair, Sparse eyelashes, Abnormality of hair texture, Sparse eyebrow, Progressive hypotric...	OMIM:225060
Coffin-Siris Syndrome 5	Sparse scalp hair, Thick eyebrow, Hypoplastic toenails, Low anterior hairline, Long eyelashes, Dy...	OMIM:616938
Combined Oxidative Phosphorylation Deficiency 34	Hepatomegaly, Pancytopenia, Hypoglycemia, Hepatic failure, Failure to thrive, Hepatic steatosis	OMIM:617872
Wolman Disease	Hepatomegaly, Cachexia, Bone-marrow foam cells, Splenomegaly, Hepatic failure, Anemia	ORPHA:75233
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits	Anteverted ears, Upslanted palpebral fissure, Narrow palpebral fissure, Sparse hair, Short nose, ...	OMIM:618087
Braddock-Carey Syndrome 1	Curly hair, Telecanthus, Posteriorly rotated ears, Wide nasal bridge, Camptodactyly, Sparse hair,...	OMIM:619980
Oculocerebral Hypopigmentation Syndrome, Cross Type	Hypopigmentation of hair, Inguinal hernia, Cryptorchidism, Sensorineural hearing impairment, Thin...	ORPHA:2719
Combined Oxidative Phosphorylation Deficiency 52	Hypoglycemia, Elevated circulating creatine kinase concentration, Hyperamylasemia, Elevated circu...	OMIM:619386
Blepharophimosis-Impaired Intellectual Development Syndrome	Sparse scalp hair, Epicanthus, Sparse eyelashes, Posteriorly rotated ears, Highly arched eyebrow,...	OMIM:619293
Combined Oxidative Phosphorylation Deficiency 47	Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Cryptorchidism, Generalized hypotonia,...	OMIM:618958
Flotch Syndrome	Sparse eyelashes, Abnormal eyelid morphology, Abnormal eyelash morphology, Blepharitis, Abnormali...	ORPHA:2045
Dystonia 32	Torticollis, Laryngeal dystonia, Limb dystonia	OMIM:619637
Cornelia De Lange Syndrome 5	Telecanthus, Highly arched eyebrow, Hearing impairment, Cryptorchidism, Synophrys, Low anterior h...	OMIM:300882
Intellectual Developmental Disorder, Autosomal Recessive 61	Posteriorly rotated ears, Thick hair, Highly arched eyebrow, Synophrys, Long eyelashes, Low-set e...	OMIM:617773
Congenital Short Bowel Syndrome	Sparse hair, Lipoatrophy	ORPHA:2301
Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome	Curly hair, Curly eyelashes, Cryptorchidism, Multiple rows of eyelashes, Wide nasal bridge, Low p...	ORPHA:163654
Spastic Ataxia 1, Autosomal Dominant	Spastic paraplegia, Leg muscle stiffness, Dystonia	OMIM:108600
Aquagenic Palmoplantar Keratoderma	Orthokeratotic hyperkeratosis, Skin plaque, White papule, Palmoplantar keratoderma	ORPHA:498359
Congenital Ichthyosiform Erythroderma	Alopecia, Abnormality of the nail, Hearing impairment, Ectropion	ORPHA:79394
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate	Sparse eyelashes, Hyperconvex nail, Supernumerary nipple, Absent eyelashes, Lacrimal duct atresia...	OMIM:106260
Bethlem Myopathy	Multiple joint contractures, Reduced muscle collagen VI, Elevated circulating creatine kinase con...	ORPHA:610
Fructose And Galactose Intolerance	Hypoglycemia	OMIM:229500
Bartsocas-Papas Syndrome	Alopecia totalis, Hypoplastic toenails, Ankyloblepharon, Popliteal pterygium, Sparse or absent ey...	ORPHA:1234
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Elevated hepatic transaminase, Skeletal muscle atrophy, Hepatomegaly, Elevated circulating creati...	ORPHA:79240
Dermatosparaxis Ehlers-Danlos Syndrome	Epicanthus, Inguinal hernia, Femoral hernia, Abnormality of subcutaneous fat tissue, Scarring, Hi...	ORPHA:1901
Glucocorticoid Deficiency 3	Recurrent hypoglycemia	OMIM:609197
Desbuquois Syndrome	Sparse hair, Low-set, posteriorly rotated ears, Camptodactyly of finger, Abnormal eyelash morphology	ORPHA:1425
Glycogen Storage Disease Ixc	Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Splenomegaly, Hypotonia, Bile duct pro...	OMIM:613027
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome	Hip contracture, Axial hypotonia, Cachexia, Elbow flexion contracture, Hypotonia, Spastic tetrapl...	ORPHA:371364
Classical-Like Ehlers-Danlos Syndrome Type 1	Skeletal muscle atrophy, Spina bifida occulta, Hypotonia, Thin skin	ORPHA:230839
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency	Myopathy, Hypoglycemia	ORPHA:366
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma	Osteopenia, Skeletal muscle atrophy, Patchy osteosclerosis, Diaphyseal cortical sclerosis, Limb-g...	OMIM:112250
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome	Absent eyebrow, Alopecia, Sparse scalp hair, Sparse eyelashes, Inguinal hernia, Sacral dimple, Bi...	ORPHA:544488
Insulin-Resistance Syndrome Type B	Fasting hyperinsulinemia, Increased body weight, Increased circulating IgG level, Leukopenia, Glu...	ORPHA:2298
Huriez Syndrome	Aplasia/Hypoplasia of the skin, Lack of skin elasticity, Small nail, Dry skin, Abnormality of the...	ORPHA:384
Congenital Disorder Of Glycosylation, Type Iq	Elevated hepatic transaminase, Microcytic anemia, Hypotonia, Hyperkeratosis, Ichthyosis, Spastici...	OMIM:612379
Glycosylphosphatidylinositol Biosynthesis Defect 25	Sparse hair, Coarse hair, Ankle flexion contracture	OMIM:619985
Coffin-Siris Syndrome 3	Sparse scalp hair, Ptosis, Thick eyebrow, Inguinal hernia, Hearing impairment, Central diaphragma...	OMIM:614608
Endocardial Fibroelastosis	Cryptorchidism, Anterior hypopituitarism, Hypoglycemia	ORPHA:2022
Epidermolysis Bullosa Simplex 4, Localized Or Generalized Intermediate, Autosomal Recessive	Hyperkeratosis	OMIM:615028
Pigmented Nodular Adrenocortical Disease, Primary, 2	Osteopenia, Osteoporosis, Ovarian cyst, Truncal obesity, Thin skin, Pancreatitis, Striae distensae	OMIM:610475
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency	Hepatomegaly, Large for gestational age, Hyperinsulinemia, Hypoglycemic seizures, Hypoketotic hyp...	ORPHA:276575
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma	Alopecia, Sparse eyelashes, Sparse eyebrow, Palmoplantar scaling skin, Nail dystrophy, Palmoplant...	OMIM:605676
Rolandic Epilepsy-Paroxysmal Exercise-Induced Dystonia-Writer'S Cramp Syndrome	Paroxysmal dystonia, Writer's cramp	ORPHA:163727
Cutaneous Telangiectasia And Cancer Syndrome, Familial	Ridged nail, Alopecia, Yellow nails, Onycholysis, Nail dystrophy, Enamel hypoplasia, Sparse later...	OMIM:614564
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1	Absence of Stensen duct, Decreased response to growth hormone stimulation test, Conductive hearin...	OMIM:129900
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Elevated circulating alpha-fetoprotein...	OMIM:251880
Trichothiodystrophy 1, Photosensitive	Brittle hair, Trichoschisis, Short nose, Flexion contracture, Absence of subcutaneous fat, Dry sk...	OMIM:601675
Autosomal Recessive Spastic Paraplegia Type 56	Spastic paraplegia, Spastic gait, Dystonia	ORPHA:320411
Cutis Laxa, Autosomal Recessive, Type Iie	Inguinal hernia, Highly arched eyebrow, Wide nasal bridge, Cutis laxa, Long eyelashes, Downslante...	OMIM:619451
Eem Syndrome	Sparse scalp hair, Absent eyebrow, Sparse body hair	ORPHA:1897
Mandibuloacral Dysplasia With Type B Lipodystrophy	Loss of subcutaneous adipose tissue in limbs, Alopecia, Decreased adipose tissue around neck, Bri...	OMIM:608612
Hemochromatosis, Neonatal	Hypoglycemia, Increased circulating ferritin concentration, Cholestasis, Hepatocellular necrosis,...	OMIM:231100
Leishmaniasis	Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Thromb...	ORPHA:507
Hereditary Bullous Dystrophy, Macular Type	Alopecia, Congenital abnormal hair pattern, Cryptorchidism, Spotty hypopigmentation, Atrichia, Na...	ORPHA:1867
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome	Reactive hypoglycemia, Tremor, Hyperinsulinemia, Increased body weight, Pancreatic islet-cell hyp...	ORPHA:276608
Chanarin-Dorfman Syndrome	Alopecia, Sensorineural hearing impairment, Microtia, Ectropion	OMIM:275630
Coffin-Siris Syndrome 2	Sparse scalp hair, Thick eyebrow, Absent fifth fingernail, Abnormal pinna morphology, Inguinal he...	OMIM:614607
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial	Impaired gluconeogenesis, Hepatic failure, Hepatic steatosis, Hypoglycemia	OMIM:261650
Leukoencephalopathy, Brain Calcifications, And Cysts	Tremor, Spasticity, Dystonia	OMIM:614561
Hyperinsulinism Due To Ucp2 Deficiency	Hepatomegaly, Large for gestational age, Reactive hypoglycemia, Hypoglycemic seizures, Recurrent ...	ORPHA:276556
Propionic Acidemia	Hepatomegaly, Pancytopenia, Axial hypotonia, Hypoglycemia, Thrombocytopenia, Neutropenia, Osteopo...	OMIM:606054
Chromosome 5P13 Duplication Syndrome	Epicanthus, Posteriorly rotated ears, Blepharophimosis, Wide nasal bridge, Low posterior hairline...	OMIM:613174
Classic Galactosemia	Elevated hepatic transaminase, Hepatomegaly, Postural tremor, Hypoglycemia, Abnormal erythrocyte ...	ORPHA:79239
Glycogen Storage Disease Ixa1	Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Splenomegaly, Hypotonia	OMIM:306000
Facial Dysmorphism, Hypertrichosis, Epilepsy, Intellectual/Developmental Delay, And Gingival Overgrowth Syndrome	Thick hair, Synophrys, Long eyelashes, Horizontal eyebrow, Low-set ears, Thick eyebrow, Hypertric...	OMIM:618381
Ehlers-Danlos Syndrome, Cardiac Valvular Type	Atrophic scars, Inguinal hernia, Thin skin	OMIM:225320
Alexander Disease Type I	Cachexia, Hypotonia, Generalized hypotonia, Spasticity, Failure to thrive	ORPHA:363717
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome	Axial hypotonia, Dorsocervical fat pad, Small for gestational age, Hypoglycemia, Diabetes mellitu...	ORPHA:391408
Silver-Russell Syndrome	Decreased muscle mass, Failure to thrive in infancy, Shoulder dimple, Cachexia, Cryptorchidism, I...	ORPHA:813
Glut1 Deficiency Syndrome 2	Hemolytic anemia, Reticulocytosis, Tremor, Splenomegaly, Choreoathetosis, Dystonia, Reduced hapto...	OMIM:612126
Tetrasomy 12P	Telecanthus, Sparse eyebrow, Upslanted palpebral fissure, Sparse hair, Short nose, Ptosis	ORPHA:884
Stuve-Wiedemann Syndrome 1	Elbow flexion contracture, Knee flexion contracture, Premature skin wrinkling, Thin skin, Low-set...	OMIM:601559
Fg Syndrome 3	Cryptorchidism, Sensorineural hearing impairment, Fine hair, Frontal upsweep of hair, Sparse hair...	OMIM:300406
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome	Telecanthus, Prominent ear helix, Synophrys, Low anterior hairline, Large earlobe, Long eyelashes...	ORPHA:411986
Cardiofaciocutaneous Syndrome	Brittle hair, Redundant skin, Thickened helices, Sparse hair, Dystrophic fingernails, Low-set, po...	ORPHA:1340
Hyperkeratosis Lenticularis Perstans	Hyperkeratosis lenticularis perstans	OMIM:144150
Hypergonadotropic Hypogonadism And Partial Alopecia	Alopecia, Streak ovary	OMIM:241090
Angioma Serpiginosum, Autosomal Dominant	Hyperkeratosis	OMIM:106050
Papillomatosis, Confluent And Reticulated	Hyperkeratosis	OMIM:167900
Attrv30M Amyloidosis	Cardiomyopathy, Impotence, Cardiomegaly	ORPHA:85447
Short Stature-Wormian Bones-Dextrocardia Syndrome	Camptodactyly of finger, Cryptorchidism, Wide nasal bridge, Long eyelashes, Low-set ears, Anterio...	ORPHA:2863
Epidermolysis Bullosa, Junctional 1A, Intermediate	Camptodactyly of finger, Patchy alopecia, Nail dystrophy, Enamel hypoplasia, Fragile nails	OMIM:226650
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy	Nonketotic hypoglycemia, Large for gestational age, Enlarged tonsils, Hypoglycemic seizures, Trun...	ORPHA:293964
Filippi Syndrome	Cryptorchidism, Wide nasal bridge, Sparse hair, Frontal hirsutism, Hypertrichosis	OMIM:272440
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly	Osteopenia, Sparse scalp hair, Failure to thrive, Hepatomegaly, Cholangitis, Craniosynostosis, Pa...	OMIM:266920
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures	Skeletal muscle atrophy, Axial hypotonia, Hypoglycemia, Tremor, Spastic tetraplegia, Athetosis, H...	OMIM:617710
Shashi-Pena Syndrome	Ptosis, Epicanthus, Posteriorly rotated ears, Highly arched eyebrow, Nevus flammeus of the forehe...	OMIM:617190
Diencephalic-Mesencephalic Junction Dysplasia Syndrome 1	Axial hypotonia, Spastic tetraplegia, Dystonia	OMIM:251280
Striatonigral Degeneration, Childhood-Onset	Elevated circulating creatine kinase concentration, Hypotonia, Hypertonia, Dystonia, Craniofacial...	OMIM:617054
Mitochondrial Pyruvate Carrier Deficiency	Hepatomegaly, Hypoglycemia, Hypotonia, Generalized hypotonia	OMIM:614741
Gomez-Lopez-Hernandez Syndrome	Alopecia, Posteriorly rotated ears, Decreased response to growth hormone stimulation test, Low-se...	OMIM:601853
Lipodystrophy, Familial Partial, Type 3	Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Lipodystrophy,...	OMIM:604367
Developmental And Epileptic Encephalopathy 69	Axial hypotonia, Spastic tetraplegia, Congenital contracture, Dystonia, Arthrogryposis multiplex ...	OMIM:618285
Pituitary Hormone Deficiency, Combined, 4	Hypoglycemia	OMIM:262700
Laryngotracheoesophageal Cleft Type 4	Abnormality of the spleen, Abnormal mesentery morphology, Cachexia	ORPHA:93941
Non-Epidermolytic Palmoplantar Keratoderma	Erythema, Papule, Skin ulcer	ORPHA:2337
Ifap Syndrome 2	Posterior blepharitis, Keratoconjunctivitis sicca, Nail dystrophy, Atrichia, Perioral erythema, S...	OMIM:619016
Carnitine Deficiency, Systemic Primary	Hepatomegaly, Elevated circulating creatine kinase concentration, Elevated circulating aspartate ...	OMIM:212140
Cardiac-Valvular Ehlers-Danlos Syndrome	Inguinal hernia, Severe conductive hearing impairment, Atrophic scars, Thin skin, Thick eyebrow, ...	ORPHA:230851
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency	Osteopenia, Failure to thrive, Absent peripheral lymph nodes in presence of infection, Abnormal i...	ORPHA:98813
Intellectual Developmental Disorder, Autosomal Dominant 21	Epicanthus, Sacral dimple, Posteriorly rotated ears, Cryptorchidism, Long eyelashes, Low-set ears	OMIM:615502
X-Linked Dominant Chondrodysplasia Punctata	Sparse eyelashes, Abnormal pinna morphology, Abnormal hair pattern, Sparse eyebrow, Scarring alop...	ORPHA:35173
X-Linked Intellectual Disability, Cabezas Type	Inguinal hernia, Camptodactyly of finger, Abnormal hair pattern, Cachexia, Tremor, Synophrys, Obe...	ORPHA:85293
Combined Malonic And Methylmalonic Acidemia	Elevated hepatic transaminase, Axial hypotonia, Hypoglycemia, Dystonia, Failure to thrive	ORPHA:289504
Bachmann-Bupp Syndrome	Absent eyebrow, Sparse scalp hair, Sparse eyelashes, Cryptorchidism, Sensorineural hearing impair...	OMIM:619075
Ullrich Congenital Muscular Dystrophy 1	Torticollis, Reduced muscle collagen VI, Facial palsy, Slender build, Flexion contracture, Muscle...	OMIM:254090
Mitochondrial Myopathy And Sideroblastic Anemia	Short nose, Distichiasis	ORPHA:2598
Brachycephaly, Trichomegaly, And Developmental Delay	Epicanthus, Brittle hair, Highly arched eyebrow, Synophrys, Long eyelashes, Low-set ears, Conduct...	OMIM:617412
Spinocerebellar Ataxia, Autosomal Recessive 4	Torticollis, Axial hypotonia, Tremor, Distal amyotrophy, Dystonia, Spasticity, Lower limb muscle ...	OMIM:607317
Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, And Other Abnormalities	Abnormal pinna morphology, Nasolacrimal duct obstruction, Hypoplastic nipples, Small nail, Sparse...	OMIM:273400
Keratoderma Hereditarium Mutilans With Ichthyosis	Alopecia, Parakeratosis, Hypergranulosis, Palmoplantar hyperkeratosis, Honeycomb palmoplantar hyp...	ORPHA:79395
Olmsted Syndrome 2	Parakeratosis, Perioral hyperkeratosis, Palmoplantar hyperkeratosis, Hyperkeratosis, Palmoplantar...	OMIM:619208
Hepatoportal Sclerosis	Elevated hepatic transaminase, Portal hypertension, Nodular regenerative hyperplasia of liver, Hy...	ORPHA:64743
Acromicric Dysplasia	Abnormal eyebrow morphology, Short nose, Long eyelashes	ORPHA:969
Nablus Mask-Like Facial Syndrome	Telecanthus, Small earlobe, Sparse eyelashes, Posteriorly rotated ears, Highly arched eyebrow, Bl...	OMIM:608156
Kury-Isidor Syndrome	Alopecia, Sacral dimple, Hypertrichosis, Low-set ears, Downslanted palpebral fissures, Ptosis	OMIM:619762
Short Syndrome	Alopecia, Telecanthus, Inguinal hernia, Abnormal dental enamel morphology, Lipodystrophy, Sensori...	ORPHA:3163
Lipoid Proteinosis	Scarring, Thickened skin, Subcutaneous nodule, Hyperkeratosis, Dystonia, Alopecia of scalp, Papule	ORPHA:530
Scalp-Ear-Nipple Syndrome	Underdeveloped antitragus, Anteverted ears, Protruding ear, Multiple lipomas, Sparse hair, Small ...	OMIM:181270
Kosaki Overgrowth Syndrome	Wide nasal bridge, Xanthelasma, Thin skin, Downslanted palpebral fissures, Ptosis	OMIM:616592
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism	Sparse scalp hair, Posteriorly rotated ears, Decreased response to growth hormone stimulation tes...	OMIM:615866
Blepharocheilodontic Syndrome 2	Lagophthalmos, Ectropion of lower eyelids, Euryblepharon, Nail dysplasia, Distichiasis	OMIM:617681
Congenital Disorder Of Glycosylation, Type Iil	Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Elevated circulating creatine kinase c...	OMIM:614576
Arterial Tortuosity Syndrome	Inguinal hernia, Congenital diaphragmatic hernia, Hiatus hernia, Flexion contracture, Cutis laxa,...	OMIM:208050
Alpha-Heavy Chain Disease	Alopecia	ORPHA:100025
Leukoencephalopathy, Hereditary Diffuse, With Spheroids 2	Rigidity, Dystonia	OMIM:619661
Rothmund-Thomson Syndrome, Type 2	Absent eyebrow, Alopecia, Sparse scalp hair, Sparse eyelashes, Epicanthus, Underfolded helix, Abs...	OMIM:268400
Spastic Paraplegia 56, Autosomal Recessive, With Or Without Pseudoxanthoma Elasticum	Spastic paraplegia, Dystonia	OMIM:615030
Self-Improving Dystrophic Epidermolysis Bullosa	Skin erosion, Abnormality of the subungual region, Atrophic scars, Palmoplantar keratoderma, Nail...	ORPHA:79411
Olmsted Syndrome 1	Subungual hyperkeratosis, Parakeratosis, Flexion contracture, Periorificial hyperkeratosis, Hyper...	OMIM:614594
Epilepsy, Nocturnal Frontal Lobe, 4	Dystonia	OMIM:610353
Mitochondrial Complex I Deficiency, Nuclear Type 17	Skeletal muscle atrophy, Generalized dystonia, Thick hair, Rigidity, Hypotonia, Dystonia	OMIM:618239
Mody	Elevated hemoglobin A1c, Large for gestational age, Overweight, Transient neonatal diabetes melli...	ORPHA:552
Progressive Hemifacial Atrophy	Aplasia/Hypoplasia of the skin, Ptosis	ORPHA:1214
Chromomycosis	Erythematous macule, Subcutaneous nodule, Verrucous papule, Hypopigmented skin patches, Osteolysi...	ORPHA:182
Leukodystrophy And Acquired Microcephaly With Or Without Dystonia	Generalized hypotonia, Dystonia	OMIM:616763
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)	Skeletal muscle atrophy, Axial hypotonia, Hypoglycemia, Elevated circulating aspartate aminotrans...	OMIM:245400
Localized Dystrophic Epidermolysis Bullosa, Pretibial Form	Abnormal fingernail morphology, Skin erosion, Localized skin lesion, Erythematous papule, Atypica...	ORPHA:79410
Homozygous 11P15-P14 Deletion Syndrome	Failure to thrive, Hypoglycemia, Hyperinsulinemia	OMIM:606528
Epidermolysis Bullosa, Lethal Acantholytic	Alopecia totalis, Aplasia cutis congenita, Absent fingernail, Skin erosion, Anonychia, Alopecia u...	OMIM:609638
Laryngeal Neuroendocrine Tumor	Elevated carcinoembryonic antigen level, Weight loss, Chronic noninfectious lymphadenopathy, Adre...	ORPHA:100083
Epidermolysis Bullosa, Junctional 1B, Severe	Congenital localized absence of skin, Atrophic scars, Nail dystrophy, Nail dysplasia, Enamel hypo...	OMIM:226700
Hypotrichosis-Intellectual Disability, Lopes Type	Sparse hair	ORPHA:2266
Mitochondrial Complex I Deficiency, Nuclear Type 36	Recurrent lower respiratory tract infections, Perimembranous ventricular septal defect, Cardiomegaly	OMIM:619170
Chilblain Lupus	Skin ulcer, Chronic myelomonocytic leukemia, Hyperkeratosis, Increased circulating antibody level...	ORPHA:90280
Ectodermal Dysplasia-Sensorineural Deafness Syndrome	Brittle hair, Camptodactyly of finger, Sensorineural hearing impairment, Coarse hair, Joint contr...	ORPHA:1883
Allan-Herndon-Dudley Syndrome	Skeletal muscle atrophy, Axial hypotonia, Small for gestational age, Failure to thrive in infancy...	ORPHA:59
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies	Sacral dimple, Abnormal pinna morphology, Highly arched eyebrow, Cryptorchidism, Flexion contract...	OMIM:617452
Joubert Syndrome 37	Posteriorly rotated ears, Cryptorchidism, Wide nasal bridge, Low-set ears, Sparse hair, Decreased...	OMIM:619185
Muscular Dystrophy, Congenital, Davignon-Chauveau Type	Angulated muscle fibers, Centrally nucleated skeletal muscle fibers, Hypotonia, Muscular dystroph...	OMIM:617066
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome	Low-set, posteriorly rotated ears, Alopecia, Abnormal dental enamel morphology, Upslanted palpebr...	ORPHA:1005
Pachyonychia Congenita	Alopecia, Epidermoid cyst, Paronychia, Onychogryposis of toenails, Fingernail dysplasia, Nail dys...	ORPHA:2309
Sialidosis Type 1	Skeletal muscle atrophy, Tremor, Splenomegaly, Hypotonia, Hyperkeratosis, Hernia	ORPHA:812
Prolidase Deficiency	Skin ulcer, Low posterior hairline, Facial hirsutism, Short nose, Petechiae, Ptosis	OMIM:170100
Warburg-Cinotti Syndrome	Epicanthus, Posteriorly rotated ears, Symblepharon, Ankle flexion contracture, Conductive hearing...	OMIM:618175
Aicardi-Goutieres Syndrome 2	Spastic paraplegia, Lymphocytosis, Dystonia	OMIM:610181
Periventricular Nodular Heterotopia	Thin skin, Hernia	ORPHA:98892
Oculomaxillofacial Dysostosis	Camptodactyly of finger, Abnormal eyelid morphology, Abnormal eyelash morphology, Wide nasal brid...	ORPHA:1794
Sézary Syndrome	Alopecia, Dry skin, Nail dystrophy, Ectropion	ORPHA:3162
Hypotonia-Cystinuria Syndrome	Axial hypotonia, Facial palsy, Decreased response to growth hormone stimulation test, Ragged-red ...	OMIM:606407
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome	Absent eyebrow, Alopecia, Inguinal hernia, Absent eyelashes, Cryptorchidism, Cafe-au-lait spot, S...	ORPHA:166035
Lelis Syndrome	Yellow nails, Absent lower eyelashes, Upslanted palpebral fissure, Nail dystrophy, Sparse hair, A...	ORPHA:140936
Combined Oxidative Phosphorylation Deficiency 36	Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, Elevated circulating...	OMIM:617950
X-Linked Agammaglobulinemia	Alopecia, Abnormality of the tonsils, Thrombocytopenia, Abnormality of the lymphatic system, Neut...	ORPHA:47
Wiedemann-Rautenstrauch Syndrome	Flexion contracture, Hypoplasia of the thymus, Small earlobe, Absent eyebrow, Alopecia, Absent ey...	OMIM:264090
Autosomal Dominant Spastic Ataxia Type 1	Lower limb spasticity, Tremor, Spastic paraplegia, Leg muscle stiffness, Spastic dysarthria, Hype...	ORPHA:251282
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones	Osteopenia, Sparse facial hair, Small for gestational age, Sparse axillary hair, Congenital gener...	OMIM:608154
Neurooculocardiogenitourinary Syndrome	Ventricular septal defect, Cardiomegaly, Bilateral cryptorchidism, Atrial septal defect, Patent f...	OMIM:618652
Congenital Arthrogryposis With Anterior Horn Cell Disease	Skeletal muscle atrophy, Cryptorchidism, Facial diplegia, Generalized hypotonia, Dystonia, Neonat...	OMIM:611890
Ruijs-Aalfs Syndrome	Skeletal muscle atrophy, Lipodystrophy, Hepatocellular carcinoma, Elbow flexion contracture, Oste...	OMIM:616200
Post-Traumatic Pituitary Deficiency	Osteopenia, Hypoglycemia, Decreased response to growth hormone stimulation test, Pituitary hypoth...	ORPHA:95619
Developmental And Epileptic Encephalopathy 53	Hypotonia, Spastic tetraplegia, Elevated circulating creatine kinase concentration, Dystonia	OMIM:617389
Sabinas Brittle Hair Syndrome	Dry hair, Brittle hair, Nail dystrophy, Nail dysplasia, Sparse hair	OMIM:211390
Congenital Disorder Of Glycosylation, Type Iie	Skeletal muscle atrophy, Hepatomegaly, Hypoglycemia, Elevated circulating creatine kinase concent...	OMIM:608779
Pontocerebellar Hypoplasia, Type 15	Chronic neutropenia, Thrombocytopenia, Hypotonia, Spastic tetraplegia, Hypertonia, Dystonia, Anemia	OMIM:619302
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome	Alopecia, Telecanthus, Cryptorchidism, Fine hair, Upslanted palpebral fissure, Low-set ears	ORPHA:228390
Polyendocrine-Polyneuropathy Syndrome	Alopecia, Hypoinsulinemia, Hypoglycemia, Anterior pituitary hypoplasia, Proximal muscle weakness ...	ORPHA:453533
Frontonasal Dysplasia 2	Telecanthus, Sparse eyelashes, Alopecia totalis, Blepharophimosis, Bilateral cryptorchidism, Spar...	OMIM:613451
2Q32Q33 Microdeletion Syndrome	Fine hair, Low-set ears, Sparse hair, Downslanted palpebral fissures, Decreased testicular size	ORPHA:251019
Neonatal Lupus Erythematosus	Elevated hepatic transaminase, Hemolytic anemia, Pancytopenia, Hepatomegaly, Aplastic anemia, Par...	ORPHA:398124
Paroxysmal Nonkinesigenic Dyskinesia 2	Paroxysmal dystonia	OMIM:611147
Dystonia 23	Axial dystonia, Torticollis, Writer's cramp, Head tremor, Limb dystonia	OMIM:614860
Microtriplication 11Q24.1	Attached earlobe, Posteriorly rotated ears, Synophrys, Upslanted palpebral fissure, Long eyelashe...	ORPHA:289522
Ichthyosis, Congenital, Autosomal Recessive 2	Alopecia, Thin nail, Abnormal hair morphology, Erythema, Small nail, Ectropion	OMIM:242100
Kaposi Sarcoma	Macule, Generalized lymphadenopathy, Hypermelanotic macule, Abnormality of the spleen, Skin nodul...	ORPHA:33276
Menkes Disease	Sparse hair, Alopecia, Brittle hair, Cutis laxa	OMIM:309400
Immunodeficiency, Common Variable, 10	Trachyonychia, Psoriasiform dermatitis, Hypoglycemia, Alopecia totalis, Decreased response to gro...	OMIM:615577
Dermatofibrosarcoma Protuberans	Erythema, Subcutaneous nodule, Skin ulcer	ORPHA:31112
Mitochondrial Complex I Deficiency, Nuclear Type 16	Spastic tetraplegia, Choreoathetosis, Aplasia of the left hemidiaphragm, Generalized hypotonia, D...	OMIM:618238
Aplasia Cutis Congenita	Aplasia cutis congenita over the scalp vertex, Skin ulcer, Congenital localized absence of skin	ORPHA:1114
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Hepatomegaly, Splenomegaly, Weight loss, Lymphadenopathy	ORPHA:86893
Bone Marrow Failure Syndrome 3	Aplastic anemia, Pancreatic steatosis, Reduced bone mineral density, Hernia, Neutropenia, Sparse ...	OMIM:617052
Diencephalic Syndrome	Cachexia, Decreased body weight	ORPHA:1672
Fanconi Anemia, Complementation Group S	Epicanthus, Blepharophimosis, Low anterior hairline, Ovarian neoplasm, Upslanted palpebral fissur...	OMIM:617883
Kennedy Disease	Type II diabetes mellitus, Testicular atrophy, Decreased fertility, Erectile dysfunction	ORPHA:481
Porphyria Cutanea Tarda	Elevated hepatic transaminase, Decreased circulating hepcidin concentration, Viral hepatitis, Dia...	ORPHA:101330
Schuurs-Hoeijmakers Syndrome	Highly arched eyebrow, Cryptorchidism, Synophrys, Low anterior hairline, Long eyelashes, Low-set ...	OMIM:615009
Developmental And Epileptic Encephalopathy 7	Hypotonia, Spastic tetraparesis, Dystonia	OMIM:613720
Silver-Russell Syndrome Due To 7P11.2P13 Microduplication	Small for gestational age, Hypoglycemia, Fine hair, Long eyelashes, High anterior hairline	ORPHA:231137
Trichohepatoenteric Syndrome 2	Brittle hair, Wide nasal bridge, Uncombable hair, Sparse hair, Woolly hair, Trichorrhexis nodosa	OMIM:614602
2P21 Microdeletion Syndrome	Failure to thrive, Long eyelashes, Hypotonia, Hypoglycemia	ORPHA:163693
Bartsocas-Papas Syndrome 1	Skin tags, Cicatricial lagophthalmos, Bilateral cryptorchidism, Flexion contracture, Ankyloblepha...	OMIM:263650
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly	Curly hair, Epicanthus, Sparse eyebrow, Synophrys, Sensorineural hearing impairment, Low-set ears...	OMIM:620075
Peroxisomal Acyl-Coa Oxidase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Hypotonia, Hypertonia, Dystonia, Neonatal hypotonia,...	OMIM:264470
Pontocerebellar Hypoplasia, Type 14	Chronic neutropenia, Hypotonia, Spastic tetraplegia, Hypertonia, Dystonia, Thrombocytopenia	OMIM:619301
Exostoses With Anetodermia And Brachydactyly, Type E	Dermal atrophy	OMIM:133690
Dermatoosteolysis, Kirghizian Type	Aplasia/Hypoplasia of the skin, Skin ulcer, Dystrophic fingernails, Abnormality of the nail, Dyst...	ORPHA:1657
Lenz-Majewski Hyperostotic Dwarfism	Inguinal hernia, Lacrimal duct stenosis, Anterior pituitary hypoplasia, Cryptorchidism, Sensorine...	OMIM:151050
Dracunculiasis	Subcutaneous nodule, Flexion contracture, Skin ulcer, Cellulitis	ORPHA:231
Jaberi-Elahi Syndrome	Brittle hair, Sparse eyelashes, Sparse eyebrow, Fine hair, Protruding ear, Low-set ears, Sparse h...	OMIM:617988
Olmsted Syndrome, X-Linked	Posterior blepharitis, Subungual hyperkeratosis, Blepharitis, Alopecia totalis	OMIM:300918
Poikiloderma With Neutropenia	Plantar hyperkeratosis, Elevated circulating creatine kinase concentration, Sparse eyebrow, Splen...	OMIM:604173
Pilarowski-Bjornsson Syndrome	Almond-shaped palpebral fissure, Long eyelashes, Downslanted palpebral fissures, Broad eyebrow, D...	OMIM:617682
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome	Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Elevated hepatic transaminase, Diabet...	OMIM:615381
Aicardi-Goutieres Syndrome 4	Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Splenomegaly, Hepatosplenomegaly, Dyst...	OMIM:610333
Hydrocephalus-Obesity-Hypogonadism Syndrome	Sparse facial hair, Absent facial hair, Low posterior hairline	ORPHA:2183
Cerebroretinal Microangiopathy With Calcifications And Cysts 2	Osteopenia, Pancytopenia, Dystonia, Portal hypertension, Premature graying of hair, Hepatic fibro...	OMIM:617341
Temple Syndrome	Few cafe-au-lait spots, Small for gestational age, Decreased response to growth hormone stimulati...	ORPHA:254516
Parkinsonism-Dystonia 1, Infantile-Onset	Axial hypotonia, Dystonia, Oculogyric crisis, Tremor, Rigidity, Cogwheel rigidity, Hypertonia, Li...	OMIM:613135
Dystonia-Parkinsonism-Hypermanganesemia Syndrome	Multiple joint contractures, Infantile axial hypotonia, Tremor, Scissor gait, Dystonia, Oromandib...	ORPHA:521406
Fucosidosis	Hepatomegaly, Decreased muscle mass, Lipoatrophy, Abnormality of the gallbladder, Hypotonia, Spas...	ORPHA:349
Mandibuloacral Dysplasia With Type A Lipodystrophy	Osteopenia, Flexion contracture, Acanthosis nigricans, Hyperglycemia, Calcinosis, Hepatomegaly, A...	OMIM:248370
Dystonia 35, Childhood-Onset	Dystonia	OMIM:619921
Torsion Dystonia With Onset In Infancy	Torsion dystonia	OMIM:602554
Whipple Disease	Hepatomegaly, Myositis, Cachexia, Splenomegaly, Mediastinal lymphadenopathy, Insulin resistance, ...	ORPHA:3452
Temple-Baraitser Syndrome	Epicanthus, Hypoplastic thumbnail, Absent nail of hallux, Bilateral ptosis, Low anterior hairline...	ORPHA:420561
Eosinophilic Fasciitis	Macule, Myositis, Fasciitis, Abnormal eosinophil morphology, Eosinophilia, Subcutaneous nodule, W...	ORPHA:3165
Gapo Syndrome	Epicanthus, Alopecia, Sparse eyelashes, Epidermoid cyst, Redundant skin, Sparse eyebrow, Protrudi...	OMIM:230740
Insulinoma	Nonketotic hypoglycemia, Reactive hypoglycemia, Tremor, Abnormality of the pancreatic islet cells...	ORPHA:97279
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1	Sparse scalp hair, Epicanthus, Sparse eyelashes, Sparse eyebrow, Hypoplastic toenails, Low-set ea...	OMIM:616901
Hypotrichosis With Juvenile Macular Degeneration	Sparse scalp hair, Brittle hair, Fine hair, Melanocytic nevus, Hyperkeratosis, Pili torti	ORPHA:1573
Cardiomyopathy, Familial Hypertrophic, 27	Cardiomegaly, Concentric hypertrophic cardiomyopathy, Ventricular septal hypertrophy, Cardiomyocy...	OMIM:618052
Siddiqi Syndrome	Ichthyosis, Flexion contracture, Lower limb amyotrophy, Limb dystonia	OMIM:618635
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies	Posteriorly rotated ears, Upslanted palpebral fissure, Patchy alopecia, Low-set ears, Sparse hair...	OMIM:617763
Kdm5C-Related Syndromic X-Linked Intellectual Disability	Camptodactyly of finger, Cryptorchidism, Protruding ear, Patchy alopecia, Multiple cafe-au-lait s...	ORPHA:85279
Leopard Syndrome 3	Few cafe-au-lait spots, Curly hair, Numerous nevi, Epidermal hyperkeratosis, Low posterior hairli...	OMIM:613707
Cardiofaciocutaneous Syndrome 3	Curly hair, Hypotonia, Reduced bone mineral density, Hyperkeratosis, Webbed neck, Failure to thrive	OMIM:615279
Pyruvate Dehydrogenase E3 Deficiency	Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Generalized hypotonia, Hepatic failure...	ORPHA:2394
2Q23.1 Microduplication Syndrome	Highly arched eyebrow, Bilateral ptosis, Low anterior hairline, Long eyelashes, Cafe-au-lait spot	ORPHA:313947
Idiopathic Trachyonychia	Ridged nail, Thin nail, Concave nail, Nail pits, Patchy alopecia, Nail dystrophy, Fingernail dysp...	ORPHA:79153
Cushing Syndrome Due To Ectopic Acth Secretion	Adrenal hyperplasia, Pancreatoblastoma, Pituitary corticotropic cell adenoma, Neoplasm of the thy...	ORPHA:99889
Follicular Lymphoma	Abnormal peritoneum morphology, Splenomegaly, Skin nodule, Mediastinal lymphadenopathy, Weight lo...	ORPHA:545
Spondylodysplastic Ehlers-Danlos Syndrome	Low-set, posteriorly rotated ears, Sparse scalp hair, Agenesis of pineal gland, Multiple joint co...	ORPHA:536471
Glycogen Storage Disease 0, Liver	Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia	OMIM:240600
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis	Unilateral cryptorchidism, Sparse eyelashes, Microtia, Atresia of the external auditory canal, Co...	OMIM:300946
Meier-Gorlin Syndrome 1	Hyperconvex nail, Cryptorchidism, Flexion contracture, Microtia, Long eyelashes, Atresia of the e...	OMIM:224690
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull	Testicular atrophy, Pulmonary hypoplasia	OMIM:601163
Keutel Syndrome	Alopecia, Dermal atrophy, Hearing impairment	ORPHA:85202
Lipodystrophy, Familial Partial, Type 2	Adipose tissue loss, Increased intraabdominal fat, Xanthomatosis, Acanthosis nigricans, Hyperglyc...	OMIM:151660
Xfe Progeroid Syndrome	Elevated hepatic transaminase, Cachexia, Absence of subcutaneous fat, Corneal scarring, Hypoalbum...	OMIM:610965
Stxbp1-Related Encephalopathy	Tremor, Hypotonia, Spastic tetraplegia, Dystonia, Spasticity	ORPHA:599373
Neurodevelopmental Disorder With Spasticity, Cataracts, And Cerebellar Hypoplasia	Highly arched eyebrow, Synophrys, Long eyelashes, Frontal upsweep of hair, Low-set ears	OMIM:619286
Leprechaunism	Reduced subcutaneous adipose tissue, Skeletal muscle atrophy, Enlarged ovaries, Axial hypotonia, ...	ORPHA:508
Rabson-Mendenhall Syndrome	Reduced subcutaneous adipose tissue, Enlarged ovaries, Impaired glucose tolerance, Thick hair, On...	ORPHA:769
Dyskeratosis Congenita	Abnormality of neutrophils, White hair, Premature graying of hair, Sparse hair, Skin vesicle, Mac...	ORPHA:1775
Macs Syndrome	Alopecia, Epicanthus, Palpebral edema, Redundant skin, Sparse eyebrow, Cryptorchidism, Wide nasal...	OMIM:613075
Nasopalpebral Lipoma-Coloboma Syndrome	Lipomas of eyelids, Telecanthus, Abnormal eyelash morphology, Sparse eyebrow, Widow's peak, Abnor...	ORPHA:2399
Epidermolysis Bullosa Dystrophica, Autosomal Recessive	Alopecia, Flexion contracture, Corneal scarring, Atrophic scars, Conjunctivitis, Nail dystrophy, ...	OMIM:226600
Myoclonus-Dystonia Syndrome	Torticollis, Writer's cramp, Dystonia	ORPHA:36899
Autoimmune Polyendocrinopathy Type 2	Hypoparathyroidism, Alopecia, Hypopigmented skin patches	ORPHA:3143
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)	Acute hepatic failure, Skeletal muscle atrophy, Microvesicular hepatic steatosis, Hepatocellular ...	OMIM:256810
Spastic Paraplegia 47, Autosomal Recessive	Overweight, Spastic paraplegia, Flexion contracture, Hypertonia, Dystonia, Neonatal hypotonia, Sp...	OMIM:614066
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome	Curly hair, Diastasis recti, Large for gestational age, Cryptorchidism, Hypopigmented skin patche...	ORPHA:457485
Pyridoxal Phosphate-Responsive Seizures	Pyridoxine-responsive sideroblastic anemia, Axial hypotonia, Hypoglycemia, Hypertonia, Failure to...	ORPHA:79096
Noonan Syndrome 14	Curly hair, Epicanthus, Lacrimal duct stenosis, Posteriorly rotated ears, Sparse eyebrow, Cryptor...	OMIM:619745
Dystonia 28, Childhood-Onset	Torticollis, Tremor, Retrocollis, Dystonia, Oromandibular dystonia, Spasticity, Laryngeal dystoni...	OMIM:617284
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia	Tremor, Failure to thrive, Axial hypotonia, Dystonia	OMIM:619651
Borjeson-Forssman-Lehmann Syndrome	Hearing impairment, Blepharophimosis, Cryptorchidism, Camptodactyly of toe, Large earlobe, Sparse...	ORPHA:127
Alopecia-Intellectual Disability Syndrome 4	Bilateral cryptorchidism, Alopecia	OMIM:618840
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2	Epicanthus, Cryptorchidism, Sensorineural hearing impairment, Fine hair, Sparse hair, Macrotia, D...	OMIM:616817
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive	Elevated hepatic transaminase, Alopecia, Decreased circulating ceruloplasmin concentration, Palmo...	OMIM:242150
Hsd10 Mitochondrial Disease	Hypoglycemia, Hypotonia, Spastic tetraplegia, Choreoathetosis, Generalized hypotonia, Spasticity	OMIM:300438
Sjögren-Larsson Syndrome	Abnormal dental enamel morphology, Hypotonia, Spastic diplegia, Hyperkeratosis, Ichthyosis, Spast...	ORPHA:816
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome	Cachexia	ORPHA:1144
Bresek Syndrome	Alopecia, Cryptorchidism, Protruding ear, Low-set ears, Decreased testicular size, Hearing impair...	ORPHA:85284
Galactokinase Deficiency	Hepatomegaly, Small for gestational age, Hypoglycemia, Hyperinsulinemia, Hepatosplenomegaly, Fail...	ORPHA:79237
Trichothiodystrophy 5, Nonphotosensitive	Brittle hair, Slow-growing hair, Sparse eyebrow, Reduced hair sulfur content, Sparse hair, Tiger ...	OMIM:300953
Hereditary Mucoepithelial Dysplasia	Sparse hair, Alopecia, Fine hair	ORPHA:1839
Trichorhinophalangeal Syndrome Type 1	Sparse eyelashes, Camptodactyly of finger, Sparse eyebrow, Leukonychia, Protruding ear, Sparse ha...	ORPHA:77258
Nodular Non-Suppurative Panniculitis	Hepatomegaly, Aplasia/Hypoplasia of the skin, Splenomegaly, Subcutaneous nodule, Weight loss, Pan...	ORPHA:33577
Systemic Lupus Erythematosus 17	Alopecia	OMIM:301080
17Q11.2 Microduplication Syndrome	Sparse eyelashes, Abnormal dental enamel morphology, Sparse eyebrow, Macroorchidism, Enamel hypop...	ORPHA:139474
Ornithine Transcarbamylase Deficiency	Splenomegaly, Hepatic failure, Hypoglycemia	ORPHA:664
Immunodeficiency 27A	Splenomegaly, Leukocytosis, Hepatosplenomegaly, Lymphadenopathy, Increased circulating IgG level,...	OMIM:209950
3-Methylcrotonyl-Coa Carboxylase Deficiency	Spasticity, Failure to thrive in infancy, Hypotonia, Hypoglycemia	ORPHA:6
Cerebrooculonasal Syndrome	Low-set, posteriorly rotated ears, Epicanthus, Sparse eyelashes, Sparse eyebrow, Upslanted palpeb...	ORPHA:66625
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum	Synophrys, Wide nasal bridge, Fine hair, Upslanted palpebral fissure, Microtia, Long eyelashes, S...	OMIM:620250
Facioscapulohumeral Dystrophy	Abnormal eyelash morphology, Sensorineural hearing impairment, Palpebral edema	ORPHA:269
Bleeding Disorder, Platelet-Type, 21	Alopecia, Psoriasiform dermatitis	OMIM:617443
Bannayan-Riley-Ruvalcaba Syndrome	Skeletal muscle atrophy, Hypoglycemia, Cachexia, Subcutaneous nodule, Hypotonia, Multiple cafe-au...	ORPHA:109
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy	Camptodactyly of finger, Cachexia, Osteolysis, Metacarpal osteolysis, Carpal osteolysis	ORPHA:2774
Hyperkeratosis Lenticularis Perstans	Papule, Aplasia/Hypoplasia of the skin, Skin ulcer	ORPHA:409
Gm1 Gangliosidosis	Inguinal hernia, Generalized dystonia, Camptodactyly of finger, Tremor, Splenomegaly, Thickened s...	ORPHA:354
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Hepatomegaly, Dystonia, Thrombocytopenia, Splenomegaly, Hypotonia, Choreoathetosis, Neutropenia, ...	ORPHA:79312
Deafness, Congenital, And Adult-Onset Progressive Leukoencephalopathy	Dystonia	OMIM:619196
Faciocardiomelic Syndrome	Telecanthus, Short eyelashes, Ptosis	OMIM:612731
Ectodermal Dysplasia 10B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive	Sparse hair, Sparse eyelashes, Periorbital wrinkles, Sparse eyebrow	OMIM:224900
Acrokeratoelastoidosis Of Costa	Yellow papule, Hypergranulosis, Piezogenic pedal papules, Palmoplantar hyperkeratosis, Hyperkerat...	ORPHA:38
Epidermolysis Bullosa, Junctional 2C, Laryngoonychocutaneous	Symblepharon, Recurrent loss of toenails and fingernails, Skin ulcer, Nail dystrophy, Enamel hypo...	OMIM:245660
Cranioectodermal Dysplasia	Epicanthus, Abnormal fingernail morphology, Abnormal dental enamel morphology, Sparse hair, Abnor...	ORPHA:1515
Amyotrophic Lateral Sclerosis 2, Juvenile	Hand muscle atrophy, Skeletal muscle atrophy, Opisthotonus, Spastic dysarthria, Hypertonia, Spast...	OMIM:205100
Spastic Paraplegia 87, Autosomal Recessive	Lower limb spasticity, Upper limb spasticity, Spastic gait, Dystonia	OMIM:619966
Restrictive Dermopathy 1	Entropion, Sparse eyelashes, Short nail, Limb joint contracture, Absent eyelashes, Sparse eyebrow...	OMIM:275210
Tricho-Retino-Dento-Digital Syndrome	Uncombable hair, Sparse hair	ORPHA:1264
Xp22.13P22.2 Duplication Syndrome	Macroorchidism, Congenital diaphragmatic hernia, Polycystic ovaries, Sparse hair, Umbilical herni...	ORPHA:284180
Cole Disease	Hypopigmented macule, Hypergranulosis, Punctate palmoplantar hyperkeratosis, Hyperkeratosis, Palm...	OMIM:615522
Acquired Ichthyosis	Hyperkeratosis, Palmoplantar keratoderma, Papule, Ichthyosis	ORPHA:454
Autosomal Recessive Cutis Laxa Type 2, Classic Type	Inguinal hernia, Redundant neck skin, Lipodystrophy, Thick hair, Redundant skin, Abnormal subcuta...	ORPHA:357074
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5	Rhabdomyolysis, Hypoglycemia, Elevated circulating creatine kinase concentration, Ankle flexion c...	OMIM:618120
Mitochondrial Complex Iv Deficiency, Nuclear Type 3	Macrocytic anemia, Splenomegaly, Generalized hypotonia, Failure to thrive, Neonatal hypoglycemia	OMIM:619046
Ptosis-Upper Ocular Movement Limitation-Absence Of Lacrimal Punctum Syndrome	Absent lacrimal punctum, Telecanthus, Posteriorly rotated ears, Abnormal pinna morphology, Highly...	ORPHA:228396
Mitochondrial Complex Iv Deficiency, Nuclear Type 11	Torticollis, Small for gestational age, Elevated circulating creatine kinase concentration, Hypot...	OMIM:619054
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency	Small for gestational age, Hypoglycemia, Insulin resistance, Low anterior hairline, Osteoporosis,...	ORPHA:73272
Arterial Tortuosity Syndrome	Inguinal hernia, Femoral hernia, Redundant skin, Hiatus hernia, Thin skin, Blepharophimosis, Shor...	ORPHA:3342
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Accessory spleen, Hepatomegaly, Failure to thrive in infancy, Hypoglycemia, Neonatal hypoglycemia...	OMIM:619418
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Elevated hepatic transaminase, Hepatomegaly, Large for gestational age, Tremor, Hyperinsulinemia,...	ORPHA:263455
Helsmoortel-Van Der Aa Syndrome	Epicanthus, Posteriorly rotated ears, Decreased response to growth hormone stimulation test, Bila...	OMIM:615873
Infantile Myofibromatosis	Neoplasm of the pancreas, Abnormal hair morphology, Subcutaneous nodule, Skin ulcer, Chondrocalci...	ORPHA:2591
4Q21 Microdeletion Syndrome	Hearing impairment, Synophrys, Long eyelashes, Low-set ears, Generalized hirsutism, Ptosis	ORPHA:238750
Schwartz-Jampel Syndrome	Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Low anterior hairlin...	ORPHA:800
Leukodystrophy, Hypomyelinating, 18	Flexion contracture, Spastic tetraplegia, Progressive spasticity, Dystonia, Spasticity, Failure t...	OMIM:618404
Poems Syndrome	Sclerosis of hand bone, Diabetes mellitus, Lipodystrophy, Sclerosis of foot bone, Thickened skin,...	ORPHA:2905
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome	Impaired glucose tolerance, Long eyebrows, Hypotonia, Glucose intolerance, Joint contracture of t...	OMIM:614407
Shukla-Vernon Syndrome	Sparse hair, Downslanted palpebral fissures	OMIM:301029
Rodrigues Blindness	Sparse hair, Protruding ear, Fine hair	OMIM:268320
Distal Deletion 19P	Low-set, posteriorly rotated ears, Alopecia, Vaginal hernia, Sensorineural hearing impairment, Ke...	ORPHA:96129
Inflammatory Skin And Bowel Disease, Neonatal, 2	Long eyelashes, Papule	OMIM:616069
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Alopecia, Cachexia, Nail dystrophy, Nail dysplasia, Anemia	OMIM:175500
Leukodystrophy, Hypomyelinating, 10	Prominent eyelashes, Upslanted palpebral fissure, Low-set ears, Hypoplasia of the antihelix, Shor...	OMIM:616420
Cystic Echinococcosis	Abnormal peritoneum morphology, Hepatomegaly, Elevated hepatic transaminase, Eosinophilia, Abnorm...	ORPHA:400
Reticular Dysgenesis	Abnormality of neutrophils, Skin ulcer, Decreased circulating antibody level, Weight loss, Leukop...	ORPHA:33355
Sting-Associated Vasculopathy, Infantile-Onset	Nailfold capillary tortuosity, Skeletal muscle atrophy, Myositis, Failure to thrive, Elevated cir...	OMIM:615934
Proteus Syndrome	Decreased muscle mass, Neoplasm of the thymus, Subcutaneous nodule, Generalized hirsutism, Abnorm...	ORPHA:744
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome	Absent lacrimal punctum, Sparse eyelashes, Hyperconvex nail, Supernumerary nipple, Abnormal denta...	ORPHA:1071
3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome	Hypoglycemia, Hypotonia, Generalized hypotonia, Dystonia, Spasticity, Failure to thrive	OMIM:614739
Autosomal Dominant Hyper-Ige Syndrome	Abnormal hair morphology, Paronychia, Wide nasal bridge, Skin ulcer, Cellulitis, Skin vesicle, Dy...	ORPHA:2314
Infantile Spasms-Psychomotor Retardation-Progressive Brain Atrophy-Basal Ganglia Disease Syndrome	Dystonia, Spastic tetraplegia, Infantile muscular hypotonia	ORPHA:263410
Barber-Say Syndrome	Dermal translucency, Telecanthus, Absent nipple, Sparse eyelashes, Ectropion, Extra concha fold, ...	OMIM:209885
Ichthyosis, Annular Epidermolytic, 1	Abnormal hair morphology, Hyperparakeratosis, Palmoplantar hyperkeratosis, Erythematous plaque, C...	OMIM:607602
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease	Hepatomegaly, Failure to thrive, Diabetes mellitus, Foot joint contracture, Facial palsy, Hyperec...	ORPHA:456312
Retinitis Pigmentosa With Or Without Skeletal Anomalies	Sparse eyelashes, Sparse eyebrow, Cafe-au-lait spot, Small nail, Low-set ears, Sparse hair, High ...	OMIM:250410
Ectodermal Dysplasia 11A, Hypohidrotic/Hair/Tooth Type, Autosomal Dominant	Brittle hair, Absent nipple, Sparse hair, Dry skin, Absent hair	OMIM:614940
Anauxetic Dysplasia 2	Sparse hair, Nail dysplasia, Flexion contracture, Small nail	OMIM:617396
Geroderma Osteodysplastica	Osteoporosis, Hypotonia, Thin skin, Hernia, Abnormal bone ossification	ORPHA:2078
Zimmermann-Laband Syndrome	Telecanthus, Sensorineural hearing impairment, Large fleshy ears, Long eyelashes, Absent fingerna...	ORPHA:3473
Proximal Myopathy With Extrapyramidal Signs	Resting tremor, Centrally nucleated skeletal muscle fibers, Insulin-resistant diabetes mellitus, ...	ORPHA:401768
Congenital Disorder Of Glycosylation, Type Im	Sparse eyebrow, Alopecia, Dry skin, Sparse eyelashes	OMIM:610768
Combined Oxidative Phosphorylation Deficiency 10	Small for gestational age, Hypoglycemia, Hypotonia, Dystonia, Spasticity, Failure to thrive	OMIM:614702
Arthrogryposis And Ectodermal Dysplasia	Absent eyebrow, Entropion, Abnormal dental enamel morphology, Trichiasis, Dry skin, Atypical scar...	OMIM:601701
Alpha-N-Acetylgalactosaminidase Deficiency Type 1	Hepatomegaly, Hypotonia, Hyperkeratosis, Generalized amyotrophy, Spasticity	ORPHA:79279
Gaucher Disease, Perinatal Lethal	Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Anemia, Opisthotonus, Ichthyosis, Hyperkeratosis,...	OMIM:608013
Encephalopathy, Progressive, With Or Without Lipodystrophy	Tremor, Hepatomegaly, Spasticity, Dystonia	OMIM:615924
Mitochondrial Complex Iv Deficiency, Nuclear Type 21	Failure to thrive in infancy, Spastic diplegia, Increased intramyocellular lipid droplets, Dyston...	OMIM:619065
Adams-Oliver Syndrome 4	Hypoplastic toenails, Umbilical hernia, Toenail dysplasia, Aplasia cutis congenita	OMIM:615297
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies	Cryptorchidism, Short nose, Long eyelashes, Wide nasal bridge	OMIM:618577
Noonan Syndrome 8	Curly hair, Large for gestational age, Cryptorchidism, Hyperkeratosis, Webbed neck, Left ventricu...	OMIM:615355
Congenital Disorder Of Glycosylation With Defective Fucosylation 1	Osteopenia, Hypoglycemia, Hypotonia, Neutropenia, Joint contracture, Failure to thrive, Hirsutism	OMIM:618005
Infantile Krabbe Disease	Lower limb spasticity, Cachexia, Spastic diplegia, Hypopigmented skin patches, Opisthotonus, Shou...	ORPHA:206436
Autoinflammation With Arthritis And Dyskeratosis	Hepatomegaly, Autoimmune hemolytic anemia, Elevated circulating C-reactive protein concentration,...	OMIM:617388
Kyphoscoliotic Ehlers-Danlos Syndrome	Osteopenia, Skeletal muscle atrophy, Inguinal hernia, Synophrys, Osteoporosis, Hypotonia, Atypica...	ORPHA:536545
Mitochondrial Complex Iii Deficiency, Nuclear Type 9	Hypoglycemia, Hypotonia	OMIM:616111
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome	Inguinal hernia, Highly arched eyebrow, Cryptorchidism, Synophrys, Bilateral ptosis, Low anterior...	ORPHA:329224
Wiedemann-Rautenstrauch Syndrome	Osteopenia, Decreased response to growth hormone stimulation test, Tremor, Synophrys, Hypertonia,...	ORPHA:3455
Mitochondrial Complex I Deficiency, Nuclear Type 19	Rigidity, Athetosis, Hypoglycemia, Hypotonia	OMIM:618241
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency	Elevated circulating growth hormone concentration, Large for gestational age, Multiple pancreatic...	ORPHA:79644
Gapo Syndrome	Skin tags, Alopecia, Sparse eyelashes, Palpebral edema, Sparse eyebrow, Early balding, Hypopigmen...	ORPHA:2067
Superficial Epidermolytic Ichthyosis	Ichthyosis, Palmoplantar keratoderma, Thin skin, Acantholysis	ORPHA:455
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities	Tremor, Obesity, Hypotonia, Limb dystonia	OMIM:620270
Striatonigral Degeneration, Infantile	Choreoathetosis, Spasticity, Failure to thrive, Dystonia	OMIM:271930
Glutaric Acidemia I	Hepatomegaly, Hypoglycemia, Rigidity, Hypotonia, Spastic diplegia, Opisthotonus, Choreoathetosis,...	OMIM:231670
Subcutaneous Panniculitis-Like T-Cell Lymphoma	Skin ulcer, Hepatosplenomegaly, Weight loss, Erythematous plaque, Panniculitis, Hemophagocytosis,...	ORPHA:86884
Aicardi-Goutieres Syndrome 9	Hypertonia, Hypoalbuminemia, Hepatic fibrosis, Hepatic steatosis, Hemolytic anemia, Hepatomegaly,...	OMIM:619487
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Osteopenia, Hepatomegaly, Neutrophilia, Failure to thrive in infancy, Elevated circulating C-reac...	OMIM:612852
Lysosomal Acid Lipase Deficiency	Elevated hepatic transaminase, Fatal liver failure in infancy, Bone-marrow foam cells, Cachexia, ...	ORPHA:275761
Limb-Mammary Syndrome	Absent lacrimal punctum, Alopecia, Absent nipple, Chronic irritative conjunctivitis, Psoriasiform...	ORPHA:69085
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Hepatomegaly, Hypoglycemia, Hypotonia, Cholestatic liver disease, Generalized hypotonia, Failure ...	ORPHA:5
Pontocerebellar Hypoplasia, Type 8	Posteriorly rotated ears, Synophrys, Long eyelashes, Low-set ears, Arthrogryposis multiplex conge...	OMIM:614961
Autosomal Dominant Epidermolytic Ichthyosis	Skin ulcer, Weight loss, Hyperkeratosis, Ichthyosis, Palmoplantar keratoderma, Congenital bullous...	ORPHA:312
Erythrokeratodermia Variabilis Et Progressiva 4	Congenital nonbullous ichthyosiform erythroderma, Hyperkeratosis, Palmoplantar hyperkeratosis	OMIM:617526
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 11	Small for gestational age, Hypoglycemia	ORPHA:231147
Myopathy With Extrapyramidal Signs	Extremely elevated creatine kinase, Hepatomegaly, Elevated hepatic transaminase, Elevated circula...	OMIM:615673
Mosaic Variegated Aneuploidy Syndrome 2	Epicanthus, Epidermoid cyst, Decreased response to growth hormone stimulation test, Blepharophimo...	OMIM:614114
Congenitally Uncorrected Transposition Of The Great Arteries	Levotransposition of the great arteries, Hepatomegaly, Ventricular septal defect, Abnormal pulmon...	ORPHA:860
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Hepatomegaly, Hypoglycemia, Hypotonia, Leukopenia, Generalized hypotonia, Neutropenia, Failure to...	OMIM:251000
Costello Syndrome	Deep-set nails, Abnormal fingernail morphology, Abnormal dental enamel morphology, Failure to thr...	ORPHA:3071
Keratosis Linearis With Ichthyosis Congenita And Sclerosing Keratoderma	Parakeratosis, Hyperconvex nail, Linear arrays of macular hyperkeratoses in flexural areas, Honey...	OMIM:601952
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia	Hypothalamic gonadotropin-releasing hormone deficiency, Decreased serum testosterone concentratio...	OMIM:308700
Trichothiodystrophy 7, Nonphotosensitive	Brittle hair, Ichthyosis, Congenital nonbullous ichthyosiform erythroderma, Follicular hyperkerat...	OMIM:618546
Acromicric Dysplasia	Long eyelashes	OMIM:102370
Dystonia 31	Generalized dystonia, Writer's cramp, Leg dystonia, Arm dystonia, Craniofacial dystonia	OMIM:619565
Hamamy Syndrome	Hypoparathyroidism, Telecanthus, Inguinal hernia, Sparse eyelashes, Blepharophimosis, Sparse eyeb...	OMIM:611174
Netherton Syndrome	Sparse scalp hair, Failure to thrive, Brittle hair, Parakeratosis, Brittle scalp hair, Sparse eye...	OMIM:256500
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect	Tremor, Skeletal muscle atrophy, Oculogyric crisis, Dystonia	ORPHA:330050
Ataxia-Telangiectasia	Decreased circulating IgG level, Lymphopenia, Failure to thrive, Diabetes mellitus, Elevated circ...	OMIM:208900
Pseudomyxoma Peritonei	Abnormal peritoneum morphology, Weight loss, Hernia, Lymphadenopathy	ORPHA:26790
Adams-Oliver Syndrome	Alopecia, Aplasia/Hypoplasia of the skin, Portal hypertension, Congenital hepatic fibrosis, Aplas...	ORPHA:974
Partington Syndrome	Lower limb spasticity, Flexion contracture, Focal dystonia, Limb dystonia, Camptodactyly	OMIM:309510
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Sparse hair, Epicanthus, Downslanted palpebral fissures, Short nose	OMIM:614105
Pelizaeus-Merzbacher Disease	Failure to thrive in infancy, Cachexia, Hypotonia, Choreoathetosis, Dystonia, Spasticity	ORPHA:702
Carnitine-Acylcarnitine Translocase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Elevated circulating creatine kinase c...	OMIM:212138
Netherton Syndrome	Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Abnormal hair morphology, Fine hair, Dry ski...	ORPHA:634
Ehlers-Danlos Syndrome, Periodontal Type, 1	Inguinal hernia, Hiatus hernia, Atrophic scars, Thin skin, Palmoplantar cutis laxa, Umbilical hernia	OMIM:130080
Combined Oxidative Phosphorylation Deficiency 37	Elevated hepatic transaminase, Axial hypotonia, Hypoglycemia, Hypotonia, Hypoalbuminemia, Bile du...	OMIM:618329
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Melanonychia, Epicanthus, Abnormal nasolacrimal system morphology, Abnormal eyelid morphology, Ab...	ORPHA:2526
Spastic Paraplegia 53, Autosomal Recessive	Spastic paraplegia, Lower limb hypertonia, Upper limb hypertonia, Dystonia, Hypertrichosis	OMIM:614898
Pulmonary Blastoma	Weight loss	ORPHA:64741
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements	Tremor, Torticollis, Axial hypotonia, Dystonia	OMIM:618425
Episodic Kinesigenic Dyskinesia 3	Choreoathetosis, Torticollis, Dystonia	OMIM:620245
Zinc Deficiency, Transient Neonatal	Alopecia	OMIM:608118
Mitochondrial Complex I Deficiency, Nuclear Type 3	Hepatomegaly, Generalized hypotonia, Dystonia	OMIM:618224
Wilson Disease	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice, Incre...	ORPHA:905
Congenital Myopathy 8	Cardiomegaly	OMIM:618654
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures	Lower limb spasticity, Obesity, Hypotonia, Generalized hypotonia, Dystonia	OMIM:616756
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy	Small for gestational age, Hypoglycemia, Elevated circulating aspartate aminotransferase concentr...	OMIM:617093
Mast Cell Sarcoma	Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Weight loss, Lymphadenopathy, Mastocytosis	ORPHA:66661
Timothy Syndrome	Ventricular septal defect, Pneumonia, Bronchitis, Cardiomegaly, Hypothyroidism, Tetralogy of Fall...	OMIM:601005
Encephalocraniocutaneous Lipomatosis	Alopecia, Cryptorchidism, Nevus psiloliparus, Eyelid coloboma, Lipoma, Limbal dermoid, Multiple c...	OMIM:613001
Satoyoshi Syndrome	Alopecia, Alopecia universalis	OMIM:600705
Nicolaides-Baraitser Syndrome	Dry hair, Low anterior hairline, Sparse hair, Sparse medial eyebrow, Absent eyebrow, Cryptorchidi...	OMIM:601358
Pyruvate Carboxylase Deficiency	Athetosis, Hypoglycemia, Hypotonia, Hepatomegaly	OMIM:266150
Camurati-Engelmann Disease	Skeletal muscle atrophy, Hepatomegaly, Facial palsy, Cachexia, Splenomegaly, Abnormal subcutaneou...	ORPHA:1328
Agel Amyloidosis	Bilateral ptosis, Cutis laxa, Keratoconjunctivitis sicca, Blepharochalasis, Nail dystrophy, Spars...	ORPHA:85448
Oculodentodigital Dysplasia, Autosomal Recessive	Telecanthus, Epicanthus, Sparse eyelashes, Long nose, Fine hair, Large earlobe, Low-set ears, Spa...	OMIM:257850
Congenital Factor Xii Deficiency	Penetrating foot ulcers	ORPHA:330
Acrokeratosis Verruciformis Of Hopf	Parakeratosis, Hypergranulosis, Acantholysis, Skin-colored papule, Punctate palmoplantar hyperker...	ORPHA:79151
Autoimmune Polyendocrinopathy Type 1	Hypoparathyroidism, Alopecia, Adrenal hyperplasia, Abnormal fingernail morphology, Hypopigmented ...	ORPHA:3453
Lethal Acantholytic Erosive Disorder	Absent eyebrow, Abnormal pinna morphology, Absent eyelashes, Absent toenail, Absent fingernail, A...	ORPHA:158687
Trichorhinophalangeal Syndrome, Type Iii	Sparse hair, Protruding ear, Sparse lateral eyebrow	OMIM:190351
Odontoonychodermal Dysplasia	Ridged nail, Sparse scalp hair, Dry hair, Short nail, Thin nail, Sparse eyebrow, Erythema, Dry sk...	OMIM:257980
Hyperinsulinemic Hypoglycemia, Familial, 8	Hyperinsulinemia, Hypoglycemia, Hypoglycemic seizures, Increased C-peptide level	OMIM:620211
Double Outlet Left Ventricle	Double outlet left ventricle, Ventricular septal defect, Cardiomegaly, Cryptorchidism, Pulmonary ...	ORPHA:3427
Oculocutaneous Albinism Type 3	White eyelashes, White eyebrow, Blue nevus, Red hair, Generalized hypopigmentation of hair	ORPHA:79433
Combined Immunodeficiency-Enteropathy Spectrum	Omphalocele, Absent eyebrow, Autoimmune hemolytic anemia, Psoriasiform dermatitis, Thickened skin...	ORPHA:436252
Incontinentia Pigmenti	Ridged nail, Alopecia, Scarring, Supernumerary nipple, Erythema, Nail pits, Fine hair, Coarse hai...	OMIM:308300
Developmental And Epileptic Encephalopathy 64	Epicanthus, Highly arched eyebrow, Sparse eyebrow, Low anterior hairline, Long eyelashes, Macroti...	OMIM:618004
Ichthyosis, Spastic Quadriplegia, And Impaired Intellectual Development	Inguinal hernia, Spastic tetraplegia, Hyperkeratosis, Congenital nonbullous ichthyosiform erythro...	OMIM:614457
Cantu Syndrome	Epicanthus, Curly eyelashes, Wide nasal bridge, Umbilical hernia, Long eyelashes, Congenital, gen...	OMIM:239850
Dowling-Degos Disease	Hypopigmented macule, Epidermoid cyst, Hypermelanotic macule, Abnormal fingernail morphology, Pal...	ORPHA:79145
Leukodystrophy, Hypomyelinating, 14	Spasticity, Generalized hypotonia, Dystonia	OMIM:617899
Cataract-Growth Hormone Deficiency-Sensory Neuropathy-Sensorineural Hearing Loss-Skeletal Dysplasia Syndrome	Periarticular subcutaneous nodules, Fasting hypoglycemia, Decreased response to growth hormone st...	ORPHA:436174
Dyskeratosis Congenita, Autosomal Recessive 6	Sparse hair, Alopecia, Nail dystrophy	OMIM:616353
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations	Abnormal auditory evoked potentials, Low posterior hairline, Long eyelashes, Downslanted palpebra...	OMIM:617523
Abnormal Hair, Joint Laxity, And Developmental Delay	Alopecia, Trichorrhexis nodosa, Small nail, Pili torti, Fragile nails, Sparse lateral eyebrow	OMIM:261990
Abcd Syndrome	White eyelashes, White eyebrow, Abnormal auditory evoked potentials, Albinism, Hearing impairment	OMIM:600501
Linear Verrucous Nevus Syndrome	Hyperkeratosis, Sparse scalp hair, Verrucous papule, Reduced bone mineral density	ORPHA:2611
Mitochondrial Complex Ii Deficiency, Nuclear Type 1	Flexion contracture, Ragged-red muscle fibers, Left ventricular noncompaction, Increased intramyo...	OMIM:252011
Intellectual Developmental Disorder With Dysmorphic Facies And Behavioral Abnormalities	Posteriorly rotated ears, Microtia, Long eyelashes, Low-set ears, Downslanted palpebral fissures	OMIM:618089
Osteogenesis Imperfecta, Type Ii	Absent ossification of calvaria, Small for gestational age, Thin skin	OMIM:166210
Classic Glucose Transporter Type 1 Deficiency Syndrome	Abnormal erythrocyte morphology, Choreoathetosis, Hypertonia, Dystonia, Spasticity	ORPHA:71277
Paroxysmal Non-Kinesigenic Dyskinesia	Rigidity, Torticollis, Choreoathetosis, Dystonia	ORPHA:98810
Hypermanganesemia With Dystonia 2	Axial hypotonia, Generalized dystonia, Dystonia, Limb joint contracture, Elevated circulating cre...	OMIM:617013
3-Methylglutaconic Aciduria, Type Viib	Neonatal hypoglycemia, Tremor, Flexion contracture, Neutropenia, Hypotonia, Opisthotonus, Choreoa...	OMIM:616271
Immunodeficiency 107, Susceptibility To Invasive Staphylococcus Aureus Infection	Pyoderma gangrenosum	OMIM:619986
Lymphatic Malformation 4	Hydrocele testis, Hyperkeratosis, Toenail dysplasia, Cellulitis	OMIM:615907
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism	Sparse hair, Dry skin, Polycystic ovaries	OMIM:268020
Papillon-Lefèvre Syndrome	Liver abscess, Abnormal fingernail morphology, Cigarette-paper scars, Hypopigmented skin patches,...	ORPHA:678
Leigh Syndrome	Skeletal muscle atrophy, Alopecia, Dystonia, Multiple joint contractures, Hypoglycemia, Frontal h...	ORPHA:506
Pseudo-Torch Syndrome 1	Elevated hepatic transaminase, Hepatomegaly, Axial hypotonia, Splenomegaly, Jaundice, Hypotonia, ...	OMIM:251290
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type	Hypopigmentation of hair, Generalized dystonia, Hypotonia, Decreased liver function, Generalized ...	ORPHA:70472
Aplasia Cutis-Myopia Syndrome	Aplasia cutis congenita, Skin ulcer	ORPHA:1117
Trichorhinophalangeal Syndrome, Type I	Slow-growing hair, Thin nail, Concave nail, Leukonychia, Fine hair, Protruding ear, Thin eyebrow,...	OMIM:190350
Nphp3-Related Meckel-Like Syndrome	Abnormality of the pancreas, Abnormal biliary tract morphology, Abnormal liver parenchyma morphology	ORPHA:3032
Ane Syndrome	Alopecia, Multiple joint contractures, Lipoatrophy, Anterior pituitary hypoplasia, Decreased resp...	ORPHA:157954
Solitary Fibrous Tumor	Abnormal peritoneum morphology, Hypoglycemia, Reduced C-peptide level, Weight loss, Neoplasm of t...	ORPHA:2126
Psoriasis 14, Pustular	Parakeratosis, Neutrophilia, Psoriasiform dermatitis, Cholangitis, Elevated circulating C-reactiv...	OMIM:614204
Mcleod Syndrome	Hepatomegaly, Elevated circulating creatine kinase concentration, Elevated circulating aspartate ...	OMIM:300842
Acces Syndrome	Sparse scalp hair, Supernumerary nipple, Protruding ear, Low-set ears, Aplasia cutis congenita of...	OMIM:619959
Severe Intellectual Disability And Progressive Spastic Paraplegia	Facial hypotonia, Overweight, Hypotonia, Spastic dysarthria, Dystonia, Spasticity, Progressive sp...	ORPHA:280763
Metabolic Crises, Recurrent, With Variable Encephalomyopathic Features And Neurologic Regression	Elevated circulating creatine kinase concentration, Ragged-red muscle fibers, Rhabdomyolysis, Cho...	OMIM:618416
Adams-Oliver Syndrome 3	Hypoplastic fifth fingernail, Short palpebral fissure, Aplasia cutis congenita	OMIM:614814
Rothmund-Thomson Syndrome	Osteopenia, Aplastic anemia, Reduced bone mineral density, Neutropenia, Sparse hair, Abnormality ...	ORPHA:2909
Autoimmune Lymphoproliferative Syndrome, Type Iii	Erythematous macule, Alopecia	OMIM:615559
Idiopathic Achalasia	Decreased prealbumin level, Weight loss	ORPHA:930
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Nonketotic hypoglycemia, Hepatomegaly, Elevated hepatic transaminase, Hypoglycemia, Elevated circ...	OMIM:608836
Pigmented Nodular Adrenocortical Disease, Primary, 4	Alopecia, Adrenal hyperplasia, Dorsocervical fat pad, Hirsutism	OMIM:615830
Microphthalmia With Limb Anomalies	Sacral dimple, Unilateral cryptorchidism, Posteriorly rotated ears, Abnormal eyelash morphology, ...	OMIM:206920
Carnitine Palmitoyl Transferase 1A Deficiency	Elevated hepatic transaminase, Skeletal muscle atrophy, Hepatomegaly, Hypoglycemia, Hypotonia, He...	ORPHA:156
Cardiofaciocutaneous Syndrome 1	Osteopenia, Absent eyebrow, Numerous nevi, Curly hair, Slow-growing hair, Absent eyelashes, Splen...	OMIM:115150
Trichodermodysplasia-Dental Alterations Syndrome	Sparse scalp hair, Brittle hair, Fine hair, Sparse or absent eyelashes, Adenoma sebaceum, Multipl...	ORPHA:3353
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome	Hypertonia, Cachexia	ORPHA:1389
Intellectual Developmental Disorder With Macrocephaly, Seizures, And Speech Delay	Recurrent hypoglycemia, Generalized hypotonia	OMIM:618158
Menkes Disease	Inguinal hernia, Hypopigmentation of hair, Hypoglycemia, Woolly hair, Thickened skin, Aplasia/Hyp...	ORPHA:565
Multiple Acyl-Coa Dehydrogenase Deficiency	Elevated hepatic transaminase, Skeletal muscle atrophy, Scapular winging, Hepatomegaly, Acute pan...	ORPHA:26791
Adams-Oliver Syndrome 5	Inguinal hernia, Aplasia cutis congenita, Hypoplastic toenails, Hypersplenism, Splenomegaly, Port...	OMIM:616028
Omenn Syndrome	Alopecia, Dry skin, Aplasia/Hypoplasia of the eyebrow	ORPHA:39041
Satoyoshi Syndrome	Abnormal hair morphology, Sparse or absent eyelashes, Hypoplasia of the ovary, Abnormality of the...	ORPHA:3130
Reni Syndrome	Hypoglycemia, Cryptorchidism, Hypoalbuminemia, Generalized hypotonia, Ichthyosis, Lymphopenia	OMIM:617575
Dyskeratosis Congenita, Autosomal Dominant 1	Ridged nail, Alopecia, Aplastic anemia, Thrombocytopenia, Osteoporosis, Nail pits, Hepatic necros...	OMIM:127550
Paroxysmal Nonkinesigenic Dyskinesia 1	Paroxysmal dystonia, Torticollis, Paroxysmal choreoathetosis	OMIM:118800
Leigh Syndrome	Hypotonia, Hepatocellular necrosis, Generalized hypotonia, Dystonia, Spasticity, Failure to thriv...	OMIM:256000
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome	Sacral dimple, Limb joint contracture, Highly arched eyebrow, Cryptorchidism, Aplasia/Hypoplasia ...	ORPHA:505237
Spinocerebellar Ataxia Type 28	Limb dystonia, Kinetic tremor, Rigidity, Head tremor, Dystonia, Spasticity	ORPHA:101109
Dystonia 15, Myoclonic	Writer's cramp, Dystonia	OMIM:607488
Alg3-Cdg	Osteopenia, Lipodystrophy, Spastic tetraparesis, Hypotonia, Macroglossia, Hypertonia, Decreased l...	ORPHA:79321
Griscelli Syndrome	Abnormal eyebrow morphology, Abnormal eyelash morphology, Silver-gray hair, White hair, Hypopigme...	ORPHA:381
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant	Sparse eyelashes, Trichiasis, Sparse eyebrow, Sensorineural hearing impairment, Elbow flexion con...	OMIM:148210
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome	Skeletal muscle atrophy, Foot joint contracture, Cryptorchidism, Dystonia, Infantile muscular hyp...	ORPHA:457205
Dystonia, Dopa-Responsive	Resting tremor, Torticollis, Postural tremor, Writer's cramp, Cogwheel rigidity, Dystonia, Spasti...	OMIM:128230
Idiopathic Pulmonary Hemosiderosis	Hepatomegaly, Nodular pattern on pulmonary HRCT, Cardiomegaly, Diffuse alveolar hemorrhage, Hepat...	ORPHA:99931
Felty Syndrome	Hepatomegaly, Cellulitis, Thrombocytopenia, Subcutaneous nodule, Splenomegaly, Osteolysis, Lympha...	ORPHA:47612
Kabuki Syndrome 2	Epicanthus, Highly arched eyebrow, Hearing impairment, Lower lip pit, Cupped ear, Protruding ear,...	OMIM:300867
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia	Epicanthus, Mixed hearing impairment, Long eyelashes, Low-set ears, Thickened helices, Overfolded...	OMIM:608624
Frontofacionasal Dysplasia	Telecanthus, Blepharophimosis, Preauricular skin tag, Subcutaneous nodule, Upper eyelid coloboma,...	ORPHA:1791
Developmental And Epileptic Encephalopathy 48	Long palpebral fissure, Long eyelashes	OMIM:617276
Leukodystrophy, Hypomyelinating, 20	Torticollis, Spastic tetraplegia, Hypertonia, Dystonia, Hirsutism	OMIM:619071
Oculopharyngodistal Myopathy	Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Abnormality of orbicularis...	ORPHA:98897
Huntington Disease-Like 2	Weight loss, Dystonia	ORPHA:98934
Stiff Skin Syndrome	Aplasia/Hypoplasia of the skin, Lipoatrophy, Thickened skin, Subcutaneous nodule, Type II diabete...	ORPHA:2833
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome	Abnormal eyelash morphology, Wide nasal bridge, Protruding ear	ORPHA:2518
Proximal 16P11.2 Microduplication Syndrome	Sparse eyelashes, Congenital diaphragmatic hernia, Sparse eyebrow, Microtia, Abnormality of the h...	ORPHA:370079
Bainbridge-Ropers Syndrome	Epicanthus, Posteriorly rotated ears, Highly arched eyebrow, Supernumerary nipple, Cryptorchidism...	OMIM:615485
Wiedemann-Steiner Syndrome	Epicanthus, Telecanthus, Thick eyebrow, Decreased response to growth hormone stimulation test, Sa...	ORPHA:319182
Medullary Thyroid Carcinoma	Primary hyperparathyroidism, Weight loss, Lymphadenopathy, Abnormal liver parenchyma morphology, ...	ORPHA:1332
Arthrogryposis, Renal Dysfunction, And Cholestasis 1	Elevated hepatic transaminase, Giant cell hepatitis, Small for gestational age, Hepatic melanin-l...	OMIM:208085
Familial Atrial Myxoma	Pulmonic valve myxoma, Cardiac myxoma, Bacterial endocarditis, Cardiomegaly	ORPHA:615
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis	Parakeratosis, Leukonychia, Hyperkeratosis, Palmoplantar keratoderma, Nail dystrophy, Ichthyosis,...	OMIM:615821
Propionic Acidemia	Hepatomegaly, Hypoglycemia	ORPHA:35
Neurodegeneration With Brain Iron Accumulation 6	Rigidity, Spastic tetraplegia, Distal amyotrophy, Dystonia, Oromandibular dystonia, Spastic parap...	OMIM:615643
Combined Oxidative Phosphorylation Defect Type 13	Hip contracture, Axial hypotonia, Ankle flexion contracture, Choreoathetosis, Lower limb hyperton...	ORPHA:319514
Cockayne Syndrome	Reduced subcutaneous adipose tissue, Skeletal muscle atrophy, Dry hair, Axial hypotonia, Hepatome...	ORPHA:191
Intellectual Developmental Disorder, X-Linked, Syndromic 13	Resting tremor, Axial hypotonia, Facial hypotonia, Tremor, Spastic paraplegia, Flexion contractur...	OMIM:300055
Palmoplantar Keratoderma I, Striate, Focal, Or Diffuse	Hypergranulosis, Yellow nails, Palmoplantar hyperkeratosis, Orthokeratotic hyperkeratosis, Palmop...	OMIM:148700
Mitochondrial Complex Iii Deficiency, Nuclear Type 5	Elevated hepatic transaminase, Small for gestational age, Decreased liver function, Hypoglycemia	OMIM:615160
Androgen Insensitivity Syndrome	Inguinal hernia, Absent facial hair, Elevated circulating luteinizing hormone level, Sparse axill...	OMIM:300068
Pfapa Syndrome	Hepatomegaly, Splenomegaly, Weight loss, Lymphadenopathy	ORPHA:42642
Rett Syndrome	Skeletal muscle atrophy, Spasticity, Cachexia, Dystonia	OMIM:312750
Spinal And Bulbar Muscular Atrophy, X-Linked 1	Testicular atrophy, Decreased fertility	OMIM:313200
Chromosome 17Q23.1-Q23.2 Deletion Syndrome	Epicanthus, Posteriorly rotated ears, Chalazion, Hearing impairment	OMIM:613355
Symptomatic Form Of Hfe-Related Hemochromatosis	Hepatomegaly, Decreased muscle mass, Cholangiocarcinoma, Diabetes mellitus, Portal hypertension, ...	ORPHA:465508
Blepharophimosis With Facial And Genital Anomalies And Impaired Intellectual Development	Telecanthus, Redundant neck skin, Posteriorly rotated ears, Thickened helices, Supernumerary nipp...	OMIM:604314
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome	Cardiomegaly, Abnormal atrioventricular valve morphology, Mitral valve prolapse, Macroorchidism, ...	ORPHA:324410
Parkinson Disease 15, Autosomal Recessive Early-Onset	Lower limb spasticity, Tremor, Rigidity, Scissor gait, Dystonia, Hypomimic face	OMIM:260300
2-Methylbutyryl-Coa Dehydrogenase Deficiency	Generalized amyotrophy, Hypoglycemia, Hypotonia	OMIM:610006
Acyl-Coa Dehydrogenase 9 Deficiency	Nonketotic hypoglycemia, Acute hepatic failure, Elevated hepatic transaminase, Elevated creatine ...	ORPHA:99901
Mitochondrial Trifunctional Protein Deficiency 1	Elevated hepatic transaminase, Small for gestational age, Elevated circulating creatine kinase co...	OMIM:609015
Trisomy 18	Omphalocele, Camptodactyly of finger, Congenital diaphragmatic hernia, Cachexia, Cryptorchidism, ...	ORPHA:3380
Mitochondrial Complex Iv Deficiency, Nuclear Type 20	Synophrys, Long eyelashes	OMIM:619064
Sulfite Oxidase Deficiency, Isolated	Axial hypotonia, Generalized dystonia, Elevated circulating creatine kinase concentration, Fine h...	OMIM:272300
Dyskinesia With Orofacial Involvement, Autosomal Recessive	Tremor, Axial hypotonia, Dystonia	OMIM:619647
Bone Marrow Failure Syndrome 5	Hypogonadism, Testicular atrophy, Pulmonary fibrosis	OMIM:618165
Neuropathy, Hereditary Sensory, Type Iic	Acral ulceration	OMIM:614213
Stag1-Related Intellectual Disability-Facial Dysmorphism-Gastroesophageal Reflux Syndrome	Cryptorchidism, Synophrys, Long eyelashes, Low-set ears, Thin eyebrow	ORPHA:502434
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1	Curly hair, Sparse scalp hair, Epicanthus, Posteriorly rotated ears, Inguinal hernia, Cryptorchid...	OMIM:607721
Silver-Russell Syndrome 1	Small for gestational age, Decreased response to growth hormone stimulation test, Fasting hypogly...	OMIM:180860
Trichohepatoenteric Syndrome 1	Brittle hair, Hypoalbuminemia, Hepatic fibrosis, Sparse hair, Hepatomegaly, Increased mean platel...	OMIM:222470
Microsporidiosis	Myositis, Cholangitis, Cachexia, Abnormality of the spleen, Skin nodule, Abnormality of the parat...	ORPHA:2552
Cholestasis, Progressive Familial Intrahepatic, 5	Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, Elevated circulating...	OMIM:617049
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Mixed hearing impairment, Multiple joint contractures, Posteriorly rotated ears, Atrophic scars, ...	ORPHA:536467
Combined Oxidative Phosphorylation Deficiency 40	Hypoglycemia, Elevated circulating creatine kinase concentration, Decreased liver function, Neona...	OMIM:618835
Lysinuric Protein Intolerance	Skeletal muscle atrophy, Hepatomegaly, Increased circulating ferritin concentration, Thrombocytop...	OMIM:222700
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome	Abnormal pinna morphology, Protruding ear, Downslanted palpebral fissures, Sparse body hair, Ptosis	ORPHA:3068
Combined Oxidative Phosphorylation Deficiency 42	Hypoglycemia, Elevated circulating creatine kinase concentration, Decreased liver function, Neona...	OMIM:618839
Mitochondrial Complex Iii Deficiency, Nuclear Type 1	Elevated hepatic transaminase, Brittle hair, Axial hypotonia, Cholangitis, Hypoglycemia, Microves...	OMIM:124000
Developmental And Epileptic Encephalopathy 105 With Hypopituitarism	Anterior pituitary hypoplasia, Synophrys, Pituitary hypothyroidism, Long eyelashes, Hypertrichosis	OMIM:619983
Wilson Disease	Acute hepatic failure, Decreased circulating ceruloplasmin concentration, Tremor, Hand tremor, Hy...	OMIM:277900
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome	Hepatomegaly, Palmoplantar keratoderma, Weight loss	ORPHA:2198
Silver-Russell Syndrome Due To A Point Mutation	Inguinal hernia, Small for gestational age, Hypoglycemia, Cryptorchidism, Cafe-au-lait spot, Hypo...	ORPHA:397590
Carnitine Palmitoyltransferase I Deficiency	Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ...	OMIM:255120
Aceruloplasminemia	Refractory anemia, Torticollis, Decreased circulating ceruloplasmin concentration, Diabetes melli...	ORPHA:48818
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections	Alopecia, Dry skin	OMIM:618282
Hereditary Methemoglobinemia	Small for gestational age, Spastic tetraplegia, Athetosis, Hypertonia, Limb dystonia, Spasticity,...	ORPHA:621
Hutchinson-Gilford Progeria Syndrome	Alopecia, Absence of subcutaneous fat	OMIM:176670
Hyperphenylalaninemia, Bh4-Deficient, C	Tremor, Hypotonia, Choreoathetosis, Hypertonia, Dystonia	OMIM:261630
Spinocerebellar Ataxia, Autosomal Recessive 29	Lower limb spasticity, Axial hypotonia, Hypotonia, Generalized dystonia	OMIM:619389
Oculodentodigital Dysplasia	Curly hair, Brittle hair, Abnormal fingernail morphology, Camptodactyly of finger, Abnormal denta...	ORPHA:2710
Ring Chromosome 10 Syndrome	Hypotonia, Cachexia	ORPHA:1438
Classic Hodgkin Lymphoma	Hepatomegaly, Splenomegaly, Osteolysis, Weight loss, Lymphadenopathy, Bone marrow hypocellularity	ORPHA:391
Symptomatic Form Of Fragile X Syndrome In Female Carriers	Diabetes mellitus, Hypotonia, Thin skin	ORPHA:449291
Incontinentia Pigmenti	Abnormal toenail morphology, Spina bifida occulta, Abnormality of the nail, Alopecia, Abnormal fi...	ORPHA:464
Autosomal Recessive Multiple Pterygium Syndrome	Multiple pterygia, Abnormal eyelid morphology, Conductive hearing impairment, Pterygium, Aplasia/...	ORPHA:2990
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1	Epicanthus, Inguinal hernia, Excessive wrinkled skin, Thin skin, Molluscoid pseudotumors, Palmopl...	OMIM:225400
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia	Acral ulceration, Skin ulcer	ORPHA:139578
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency	Hepatomegaly, Hypoglycemia, Hypotonia, Spasticity, Anemia	OMIM:246450
Mitochondrial Complex Iii Deficiency, Nuclear Type 4	Ragged-red muscle fibers, Athetosis, Axial hypotonia, Dystonia	OMIM:615159
Kallmann Syndrome With Spastic Paraplegia	Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Cryptorchi...	OMIM:308750
Developmental And Epileptic Encephalopathy 16	Severe muscular hypotonia, Hypotonia, Dystonia	OMIM:615338
Osteogenesis Imperfecta, Type Xx	Posteriorly rotated ears, Highly arched eyebrow, Low-set ears, Sparse hair, Crumpled ear, Sparse ...	OMIM:618644
Wieacker-Wolff Syndrome	Facial palsy, High anterior hairline, Hypotonia, Congenital foot contractures, Distal amyotrophy,...	OMIM:314580
Nager Syndrome	Low-set, posteriorly rotated ears, Sparse lower eyelashes, Hearing impairment, Lower eyelid colob...	ORPHA:245
X-Linked Creatine Transporter Deficiency	Cachexia, Hypotonia, Athetosis, Hypertonia, Dystonia	ORPHA:52503
Epidermolytic Hyperkeratosis 2	Palmoplantar hyperkeratosis, Hyperkeratosis, Cobblestone-like hyperkeratosis, Palmoplantar kerato...	OMIM:620150
Segawa Syndrome, Autosomal Recessive	Tremor, Axial hypotonia, Rigidity, Limb dystonia	OMIM:605407
Rhabdoid Tumor	Subcutaneous nodule, Weight loss, Anemia, Lymphadenopathy, Neoplasm of the liver, Thrombocytopenia	ORPHA:69077
Neurodevelopmental Disorder With Progressive Spasticity And Brain White Matter Abnormalities	Axial dystonia, Failure to thrive in infancy, Spastic paraplegia, Flexion contracture, Long eyela...	OMIM:619026
Familial Infantile Bilateral Striatal Necrosis	Dystonia, Spastic tetraparesis, Rigidity, Cogwheel rigidity, Choreoathetosis, Upper limb muscle w...	ORPHA:225154
Neurodevelopmental Disorder With Hypotonia, Seizures, And Absent Language	Osteopenia, Sparse eyebrow, Hypotonia, Generalized hypotonia, Dystonia, Thick eyebrow	OMIM:617268
Ichthyosis, Congenital, Autosomal Recessive 10	Hypergranulosis, Hyperkeratosis, Orthokeratotic hyperkeratosis, Palmoplantar keratoderma, General...	OMIM:615024
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic	Hepatomegaly, Hypoglycemia, Elevated circulating alanine aminotransferase concentration, Increase...	OMIM:261680
Autosomal Dominant Robinow Syndrome	Naevus flammeus of the eyelid, Alopecia, Femoral hernia, Curly eyelashes, Cryptorchidism, Wide na...	ORPHA:3107
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form	Distal lower limb amyotrophy, Aplasia cutis congenita on trunk or limbs, Alopecia, Scarring, Cran...	ORPHA:79396
Dyskeratosis Congenita, Autosomal Dominant 3	Alopecia, Cryptorchidism, Fine hair, Premature graying of hair, Nail dysplasia, Dry skin, Hearing...	OMIM:613990
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects	Alopecia, Parakeratosis, Epidermal nevus, Flexion contracture, Epiphyseal stippling, Congenital i...	OMIM:308050
Luo-Schoch-Yamamoto Syndrome	Abnormal pinna morphology, Highly arched eyebrow, Almond-shaped palpebral fissure, Ectropion of l...	OMIM:619460
Primary Dystonia, Dyt21 Type	Axial dystonia, Paroxysmal dystonia, Torticollis, Generalized dystonia, Limb dystonia, Focal dyst...	ORPHA:306734
Mitochondrial Trifunctional Protein Deficiency	Hypoparathyroidism, Failure to thrive in infancy, Rhabdomyolysis, Hypotonia, Cholestasis, Skeleta...	ORPHA:746
Cerebrooculofacioskeletal Syndrome 2	Sparse hair, Camptodactyly of finger, Hearing impairment	OMIM:610756
Rajab Interstitial Lung Disease With Brain Calcifications 1	Osteopenia, Reduced bone mineral density, Hypoalbuminemia, Generalized hypotonia, Hepatic steatos...	OMIM:613658
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy	Choreoathetosis, Spasticity, Axial hypotonia, Dystonia	OMIM:614249
Epidermolysis Bullosa Simplex 5C, With Pyloric Atresia	Neonatal death, Aplasia cutis congenita, Flexion contracture	OMIM:612138
Triosephosphate Isomerase Deficiency	Normocytic anemia, Skeletal muscle atrophy, Hemolytic anemia, Macrocytic anemia, Failure to thriv...	OMIM:615512
Cardiomyopathy, Familial Hypertrophic, 4	Ventricular hypertrophy, Hepatomegaly, Cardiomegaly, Pericardial effusion, Muscular ventricular s...	OMIM:115197
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive	Spasticity, Hypotonia, Dystonia	OMIM:617820
Johanson-Blizzard Syndrome	Absent lacrimal punctum, Alopecia, Abnormal hair pattern, Sensorineural hearing impairment, Short...	ORPHA:2315
Mulibrey Nanism	Hepatomegaly, Cardiomegaly, Myocardial fibrosis, Pericardial constriction, Recurrent lower respir...	OMIM:253250
Monosomy 22	Aplasia of the thymus, Thickened skin, Synophrys, Hypochromic microcytic anemia, Hepatosplenomega...	ORPHA:96123
Polyendocrine-Polyneuropathy Syndrome	Hypoglycemia, Elevated hemoglobin A1c, Anterior pituitary hypoplasia, Dystonia, Type I diabetes m...	OMIM:616113
Multiple Endocrine Neoplasia, Type I	Hypoglycemia, Pancreatic islet cell adenoma, Elevated circulating growth hormone concentration, P...	OMIM:131100
Kid Syndrome	Psoriasiform dermatitis, Sparse eyelashes, Sparse eyebrow, Scarring alopecia of scalp, Posterior ...	ORPHA:477
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency	Xanthomatosis, Hypotonia, Hypoglycemia	ORPHA:364
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Elevated hepatic transaminase, Neutrophilia, Liver abscess, Elevated circulating C-reactive prote...	ORPHA:54251
Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia	Aplasia cutis congenita on trunk or limbs, Atrophic scars, Nail dystrophy, Nail dysplasia, Milia,...	OMIM:226730
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige	Psoriasiform dermatitis, Hypergranulosis, Acantholysis, Increased circulating IgE level, Orthoker...	OMIM:615508
Neurodevelopmental Disorder With Hearing Loss And Spasticity	Spastic hemiparesis, Low anterior hairline, Hypotonia, Spastic tetraplegia, Dystonia, Spasticity	OMIM:619616
Fanconi-Bickel Syndrome	Osteopenia, Hepatomegaly, Diabetes mellitus, Impaired glucose tolerance, Elevated circulating asp...	ORPHA:2088
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Nonketotic hypoglycemia, Exercise-induced rhabdomyolysis, Hepatomegaly, Elevated circulating crea...	OMIM:201475
Mitochondrial Complex I Deficiency, Nuclear Type 20	Elevated hepatic transaminase, Hypoglycemia, Microvesicular hepatic steatosis, Hypotonia, General...	OMIM:611126
Mitochondrial Complex Iv Deficiency, Nuclear Type 23	Inguinal hernia, Hypoglycemia, Elbow contracture, Rigidity, Hypotonia, Umbilical hernia, Nemaline...	OMIM:620275
Dilated Cardiomyopathy With Ataxia	Elevated hepatic transaminase, Lower limb spasticity, Bilateral cryptorchidism, Microvesicular he...	ORPHA:66634
Mucopolysaccharidosis, Type Iiib	Hepatomegaly, Cardiomegaly, Splenomegaly, Recurrent upper respiratory tract infections, Asymmetri...	OMIM:252920
Teebi-Shaltout Syndrome	Telecanthus, Slow-growing hair, Highly arched eyebrow, Low anterior hairline, Wide nasal bridge, ...	OMIM:272950
Alg12-Cdg	Elevated hepatic transaminase, Partial absence of specific antibody response to Haemophilus influ...	ORPHA:79324
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency	Axial hypotonia, Small for gestational age, Oculogyric crisis, Tremor, Rigidity, Hypomimic face, ...	ORPHA:70594
Pancreatic And Cerebellar Agenesis	Reduced subcutaneous adipose tissue, Failure to thrive, Diabetes mellitus, Hypoglycemia, Flexion ...	OMIM:609069
Classical-Like Ehlers-Danlos Syndrome Type 2	Ventral hernia, Alopecia, Widened atrophic scar, Inguinal hernia, Sacral dimple, Redundant skin, ...	ORPHA:536532
Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp	Paroxysmal dystonia, Writer's cramp, Hand tremor	OMIM:608105
Waardenburg Syndrome, Type 4C	White eyelashes, White eyebrow, Cryptorchidism, Sensorineural hearing impairment, Hypopigmented s...	OMIM:613266
Basel-Vanagaite-Smirin-Yosef Syndrome	Epicanthus, Inguinal hernia, Uplifted earlobe, Nevus flammeus of the forehead, Low-set ears, Spar...	OMIM:616449
Schwartz-Jampel Syndrome, Type 1	Hip contracture, Inguinal hernia, Shoulder flexion contracture, Generalized hirsutism, Narrow pal...	OMIM:255800
Holocarboxylase Synthetase Deficiency	Alopecia, Keratoconjunctivitis	ORPHA:79242
3-Methylglutaconic Aciduria Type 7	Elevated hepatic transaminase, Hypotonia, Opisthotonus, Choreoathetosis, Hypertonia, Bone marrow ...	ORPHA:445038
Mitochondrial Dna Depletion Syndrome 5 (Encephalomyopathic With Or Without Methylmalonic Aciduria)	Skeletal muscle atrophy, Small for gestational age, Elevated circulating creatine kinase concentr...	OMIM:612073
Atypical Pantothenate Kinase-Associated Neurodegeneration	Tremor, Rigidity, Focal dystonia, Limb dystonia, Oromandibular dystonia, Spasticity	ORPHA:216873
Pleural Mesothelioma	Hepatomegaly, Weight loss, Lymphadenopathy	ORPHA:50251
Leukodystrophy, Hypomyelinating, 21	Cryptorchidism, Athetosis, Failure to thrive, Dystonia	OMIM:619310
Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type	Subungual hyperkeratosis, Scarring alopecia of scalp, Hypoplastic sweat glands, Nail dystrophy, O...	OMIM:617337
Pigmented Nodular Adrenocortical Disease, Primary, 1	Osteopenia, Osteoporosis, Truncal obesity, Thin skin, Striae distensae	OMIM:610489
Chromosome Xq27.3-Q28 Duplication Syndrome	Decreased testicular size, Cryptorchidism, Increased circulating gonadotropin level, Sparse body ...	OMIM:300869
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy	Ankle flexion contracture, Long eyelashes, Bilateral conductive hearing impairment, Low-set ears,...	OMIM:617802
Basilicata-Akhtar Syndrome	Nevus, Generalized hypotonia, Camptodactyly, Progressive spasticity, Preauricular skin tag, Neona...	OMIM:301032
Congenital Tricuspid Valve Dysplasia	Hepatomegaly, Cardiomegaly, Pericardial effusion, Right atrial enlargement, Anomalous pulmonary v...	ORPHA:555874
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6	Skeletal muscle atrophy, Foot dorsiflexor weakness, Hypotonia, Plantar flexion contracture, Arthr...	OMIM:620011
Oculocutaneous Albinism Type 1	Generalized hypopigmentation of hair, White eyelashes, White eyebrow	ORPHA:352731
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities	Medial flaring of the eyebrow, Posteriorly rotated ears, Upslanted palpebral fissure, Distal arth...	OMIM:619833
Congenital Disorder Of Glycosylation, Type If	Wide anterior fontanel, Flexion contracture, Hypotonia, Hyperkeratosis, Hypertonia, Failure to th...	OMIM:609180
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency	Elevated hepatic transaminase, Exercise-induced rhabdomyolysis, Parakeratosis, Intermittent gener...	ORPHA:284426
Goldberg-Shprintzen Syndrome	Telecanthus, Highly arched eyebrow, Synophrys, Wide nasal bridge, Low-set ears, Sparse hair, Down...	OMIM:609460
Neurodevelopmental Disorder With Microcephaly, Seizures, And Brain Atrophy	Flexion contracture, Long eyelashes, Ptosis	OMIM:619076
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 7	Hypotonia, Dystonia	OMIM:620359
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia	Epicanthus, Posteriorly rotated ears, Highly arched eyebrow, Cryptorchidism, Low posterior hairli...	OMIM:613563
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency	Hypoglycemia, Hypotonia, Opisthotonus, Acute hepatic steatosis, Generalized hypotonia, Failure to...	OMIM:210200
Mitochondrial Complex Ii Deficiency, Nuclear Type 4	Axial hypotonia, Flexion contracture, Hypotonia, Generalized hypotonia, Dystonia, Spasticity	OMIM:619224
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects	Laterally extended eyebrow, Thick eyebrow, Hooded eyelid, Thick hair, Highly arched eyebrow, Hear...	OMIM:610759
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome	Abnormal eyebrow morphology, Alopecia, Streak ovary, Sparse facial hair, Sparse eyebrow, Cryptorc...	ORPHA:2232
Mitochondrial Complex Iii Deficiency, Nuclear Type 11	Hypoglycemia, Pancreatitis	OMIM:620137
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Hepatomegaly, Dystonia, Thrombocytopenia, Hypotonia, Choreoathetosis, Neutropenia, Pancreatitis, ...	ORPHA:289916
Fibrodysplasia Ossificans Progressiva	Conductive hearing impairment, Alopecia, Sensorineural hearing impairment	OMIM:135100
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Acute hepatic failure, Elevated hepatic transaminase, Fasting hyperinsulinemia, Hepatic necrosis,...	ORPHA:71212
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Hepatomegaly, Dilated cardiomyopathy, Cardiomegaly	OMIM:600649
Riboflavin Deficiency	Hypoglycemia, Hypotonia	OMIM:615026
16P11.2P12.2 Microduplication Syndrome	Dystonia	ORPHA:261204
Scalp-Ear-Nipple Syndrome	Telecanthus, Palpebral edema, Abnormal fingernail morphology, Underdeveloped antitragus, Abnormal...	ORPHA:2036
Congenital Disorder Of Glycosylation, Type It	Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Elevated circulating creatine kinase c...	OMIM:614921
Meige Disease	Absence of lymph node germinal center, Skin ulcer, Atypical scarring of skin, Lymph node hypoplas...	ORPHA:90186
Beta-Ketothiolase Deficiency	Hepatomegaly, Hypoglycemia, Leukocytosis, Hypotonia, Weight loss, Hyperglycemia, Thrombocytosis, ...	ORPHA:134
Mucoepithelial Dysplasia, Hereditary	Alopecia, Keratoconjunctivitis, Coarse hair, Nail dystrophy, Nail dysplasia, Sparse hair, Chronic...	OMIM:158310
Trisomy 13	Preauricular pit, Abnormal eyelash morphology, Cryptorchidism, Sensorineural hearing impairment, ...	ORPHA:3378
Aggressive Systemic Mastocytosis	Pancytopenia, Portal hypertension, Hypersplenism, Thrombocytopenia, Leukocytosis, Osteoporosis, O...	ORPHA:98850
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency	Skeletal muscle atrophy, Alopecia, Hypoglycemia, Hypotonia, Opisthotonus, Generalized hypotonia, ...	OMIM:210210
Hoyeraal-Hreidarsson Syndrome	Abnormal leukocyte morphology, Sparse scalp hair, Thrombocytopenia, Premature graying of hair, Hy...	ORPHA:3322
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked	Increased circulating interleukin 8 concentration, Failure to thrive in infancy, Corneal scarring...	OMIM:301220
Mogs-Cdg	Decreased circulating IgG level, Hepatomegaly, Alopecia, Thrombocytopenia, Infantile muscular hyp...	ORPHA:79330
Limited Cutaneous Systemic Sclerosis	Joint contracture of the hand, Foot joint contracture, Hypopigmented skin patches, Skin ulcer	ORPHA:220402
Tenorio Syndrome	Osteopenia, Hypoglycemia, Hypotonia, Macroglossia, Hypoinsulinemia, Thick eyebrow, Hypertrichosis	OMIM:616260
Pontocerebellar Hypoplasia, Type 13	Epicanthus, Long eyelashes, Overfolded helix, Low posterior hairline	OMIM:618606
Vascular Ehlers-Danlos Syndrome	Redundant skin, Subcutaneous nodule, Protruding ear, Macule, Alopecia, Abnormal eyelash morpholog...	ORPHA:286
Dystonia 16	Generalized dystonia, Postural tremor, Retrocollis, Limb dystonia, Laryngeal dystonia	OMIM:612067
Acute Myelomonocytic Leukemia	Eosinophilia, Leukocytosis, Weight loss, Anemia, Thrombocytopenia	ORPHA:517
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies	Hepatomegaly, Hypoglycemia, Synophrys, Hypotonia, Obesity, Hepatosplenomegaly, Cholecystitis, Aca...	OMIM:301066
Rapid-Onset Dystonia-Parkinsonism	Resting tremor, Torticollis, Generalized hypotonia, Limb dystonia, Craniofacial dystonia, Hypomim...	ORPHA:71517
Hsd10 Disease, Infantile Type	Hypoglycemia, Spastic tetraparesis, Hypotonia, Spastic diplegia, Choreoathetosis, Dystonia	ORPHA:391428
Combined Oxidative Phosphorylation Deficiency 13	Skeletal muscle atrophy, Axial hypotonia, Severe muscular hypotonia, Choreoathetosis, Dystonia	OMIM:614932
Cantú Syndrome	Epicanthus, Curly eyelashes, Low anterior hairline, Wide nasal bridge, Low posterior hairline, Lo...	ORPHA:1517
Pyridoxine-Dependent Epilepsy	Hypoglycemia	ORPHA:3006
Mitochondrial Complex I Deficiency, Nuclear Type 5	Hepatomegaly, Axial hypotonia, Hypotonia, Generalized hypotonia, Dystonia, Failure to thrive	OMIM:618226
Developmental And Epileptic Encephalopathy 27	Spasticity, Axial hypotonia, Hypotonia, Dystonia	OMIM:616139
Congenital Disorder Of Glycosylation, Type Iia	Posteriorly rotated ears, Sensorineural hearing impairment, Hirsutism, Long eyelashes, Low-set ea...	OMIM:212066
Brachycephaly, Deafness, Cataract, Microstomia, And Impaired Intellectual Development	Posteriorly rotated ears, Cryptorchidism, Shallow orbits, Microtia, Long eyelashes, Low-set ears,...	OMIM:601353
Intellectual Developmental Disorder, Autosomal Dominant 66	Sparse hair, Low-set ears	OMIM:619910
Isobutyryl-Coa Dehydrogenase Deficiency	Hypotonia, Ketotic hypoglycemia	ORPHA:79159
Bone Dysplasia, Lethal Holmgren Type	Hepatomegaly, Hypotonia, Weight loss, Hernia, Failure to thrive, Anemia	ORPHA:1842
Buerger Disease	Skin ulcer	ORPHA:36258
Spastic Paraplegia, Ataxia, And Mental Retardation	Lower limb spasticity, Spastic paraplegia, Dystonia, Lower limb muscle weakness, Spastic gait	OMIM:607565
Congenital Toxoplasmosis	Hepatomegaly, Cardiomegaly	ORPHA:858
Cog8-Cdg	Elevated hepatic transaminase, Skeletal muscle atrophy, Hypoglycemia, Infantile muscular hypotoni...	ORPHA:95428
Benign Recurrent Intrahepatic Cholestasis	Elevated hepatic transaminase, Jaundice, Weight loss, Acholic stools, Cholestatic liver disease, ...	ORPHA:65682
Schimmelpenning-Feuerstein-Mims Syndrome	Linear nevus sebaceous, Alopecia, Nevus sebaceous, Nevus	OMIM:163200
3-Methylglutaconic Aciduria, Type Ix	Long eyelashes	OMIM:617698
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of	Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Hypotonia, Generalized hypotonia, Hepa...	OMIM:201450
Cerebellar, Ocular, Craniofacial, And Genital Syndrome	Laterally extended eyebrow, Posteriorly rotated ears, Synophrys, Low anterior hairline, Protrudin...	OMIM:618479
Gm1 Gangliosidosis Type 1	Exaggerated startle response, Thickened skin, Hirsutism, Hepatosplenomegaly, Macroglossia, Decere...	ORPHA:79255
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1	Skeletal muscle atrophy, Facial palsy, Elevated circulating creatine kinase concentration, Rigidi...	OMIM:258450
Dystonia 12	Tremor, Hypomimic face, Torticollis, Dystonia	OMIM:128235
Intellectual Developmental Disorder, X-Linked, Syndromic 33	Sacral dimple, Thickened helices, Toenail dysplasia, Synophrys, Nasolacrimal duct obstruction, Pr...	OMIM:300966
Congenital Ptosis	Unilateral ptosis, Congenital Horner syndrome, Telecanthus, Epicanthus inversus, Piebaldism, Cong...	ORPHA:91411
White-Kernohan Syndrome	Epicanthus, Telecanthus, Thick eyebrow, Synophrys, Broad medial eyebrow, Short nose, Upslanted pa...	OMIM:619426
Hyperinsulinism-Hyperammonemia Syndrome	Hyperinsulinemic hypoglycemia, Fasting hyperinsulinemia, Reactive hypoglycemia	ORPHA:35878
Infantile Cataract, Skin Abnormalities, Glutamate Excess, And Impaired Intellectual Development	Subcutaneous nodule, Hyperkeratosis, Parakeratosis, Axial hypotonia	OMIM:618339
Proteasome-Associated Autoinflammatory Syndrome 1	Skeletal muscle atrophy, Increased circulating interleukin 6 concentration, Elevated circulating ...	OMIM:256040
Infantile Sialic Acid Storage Disease	Splenomegaly, Hepatomegaly, Cardiomegaly	OMIM:269920
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions	Tremor, Rigidity, Dystonia	ORPHA:401901
Tuberculosis	Weight loss	ORPHA:3389
Isolated Succinate-Coq Reductase Deficiency	Skeletal muscle atrophy, Spastic tetraparesis, Knee flexion contracture, Weight loss, Lower limb ...	ORPHA:3208
Multiple Acyl-Coa Dehydrogenase Deficiency	Hepatomegaly, Hypoglycemia, Wide anterior fontanel, Jaundice, Hypotonia, Glycosuria, Neonatal dea...	OMIM:231680
Progressive Myoclonic Epilepsy With Dystonia	Generalized neonatal hypotonia, Dystonia	ORPHA:352596
Inflammatory Pseudotumor Of The Liver	Diabetes mellitus, Elevated circulating aspartate aminotransferase concentration, Elevated circul...	ORPHA:90003
2P15P16.1 Microdeletion Syndrome	Epicanthus, Telecanthus, Inguinal hernia, Camptodactyly of finger, Supernumerary nipple, Hearing ...	ORPHA:261349
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form	Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ...	ORPHA:228305
Mednik Syndrome	Hyperkeratosis, Intrahepatic cholestasis, Decreased circulating ceruloplasmin concentration, Icht...	ORPHA:171851
Oxoglutarate Dehydrogenase Deficiency	Rigidity, Generalized amyotrophy, Hypotonia, Dystonia	OMIM:203740
Combined Oxidative Phosphorylation Deficiency 12	Hepatomegaly, Axial hypotonia, Elevated circulating aspartate aminotransferase concentration, Spa...	OMIM:614924
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Elevated hepatic transaminase, Skeletal muscle atrophy, Hepatomegaly, Hypoglycemia, Flexion contr...	ORPHA:17
Nijmegen Breakage Syndrome	Abnormal hair quantity, Skeletal muscle atrophy, Hemolytic anemia, Autoimmune hemolytic anemia, R...	ORPHA:647
Late-Onset Isolated Acth Deficiency	Normocytic anemia, Hypoparathyroidism, Macrocytic anemia, Hypoglycemia, Eosinophilia, Pituitary a...	ORPHA:199299
Mirage Syndrome	Hypoglycemia, Cryptorchidism, Thrombocytopenia, Radial club hand, Leukopenia, Decreased body weig...	OMIM:617053
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome	Congenital muscular torticollis, Hypoglycemia, Supernumerary nipple, Wide anterior fontanel, Gene...	ORPHA:457279
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties	Epicanthus, Sparse eyelashes, Sparse eyebrow, Wide nasal bridge, Upslanted palpebral fissure, Lon...	OMIM:620070
H Syndrome	Abnormal eyebrow morphology, Alopecia, Psoriasiform dermatitis, Lipodystrophy, Hearing impairment...	ORPHA:168569
Idiopathic Bronchiectasis	Cachexia	ORPHA:60033
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor	Alopecia	OMIM:600785
Down Syndrome	Abnormality of the lymphatic system, Hypotonia, Obesity, Macroglossia, Type II diabetes mellitus,...	ORPHA:870
Ichthyosis, Congenital, Autosomal Recessive 14	Hyperkeratosis, Orthokeratotic hyperkeratosis, Congenital nonbullous ichthyosiform erythroderma	OMIM:617571
Dyskeratosis Congenita, Digenic	Alopecia, Sparse eyelashes, Bilateral ptosis, Nail dystrophy, Decreased testicular size	OMIM:620040
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Pancytopenia, Cachexia, Abnormality of the spleen, Thrombocytopenia, Spastic paraplegia, Splenome...	ORPHA:2072
Williams-Beuren Region Duplication Syndrome	Decreased response to growth hormone stimulation test, Cryptorchidism, Long eyelashes, Horizontal...	OMIM:609757
Developmental And Epileptic Encephalopathy 44	Axial hypotonia, Athetosis, Dystonia, Spasticity, Failure to thrive	OMIM:617132
Uruguay Faciocardiomusculoskeletal Syndrome	Ventricular hypertrophy, Left atrial enlargement, Cardiomegaly, Cardiomyopathy, Left ventricular ...	OMIM:300280
Developmental And Epileptic Encephalopathy 86	Small for gestational age, Generalized amyotrophy, Generalized hypotonia, Dystonia	OMIM:618910
Infantile Digital Fibromatosis	Hyperkeratosis, Skin nodule, Parakeratosis	ORPHA:199267
Opitz-Kaveggia Syndrome	Skin tags, Epicanthus, Multiple joint contractures, Inguinal hernia, Sacral dimple, Facial wrinkl...	OMIM:305450
Syndromic Recessive X-Linked Ichthyosis	Cryptorchidism, Acute leukemia, Hyperkeratosis, Ichthyosis, Testicular seminoma	ORPHA:281090
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Dominant	Severe muscular hypotonia, Oculogyric crisis, Hypotonia, Dystonia, Spasticity	OMIM:614254
Undifferentiated Pleomorphic Sarcoma	Abnormal peritoneum morphology, Weight loss	ORPHA:2023
Parkinsonism-Dystonia 2, Infantile-Onset	Axial hypotonia, Oculogyric crisis, Tremor, Hypotonia, Dystonia, Hypomimic face	OMIM:618049
Mitochondrial Complex I Deficiency, Nuclear Type 8	Axial dystonia, Pancreatitis, Generalized hypotonia, Dystonia	OMIM:618230
Waardenburg Syndrome, Type 2E	White eyelashes, White eyebrow, Aplasia of the semicircular canal, Sensorineural hearing impairme...	OMIM:611584
Trichotillomania	Alopecia	OMIM:613229
Robinow Syndrome, Autosomal Recessive 2	Ventral hernia, Omphalocele, Posteriorly rotated ears, Wide nasal bridge, Long eyelashes, Low-set...	OMIM:618529
Fixed Subaortic Stenosis	Bicuspid aortic valve, Ventricular septal defect, Cardiomegaly, Abnormal heart morphology, Abnorm...	ORPHA:3092
Primary Dystonia, Dyt6 Type	Limb dystonia, Torticollis, Generalized dystonia, Blepharospasm, Dystonia, Lingual dystonia, Lary...	ORPHA:98806
Isolated Congenital Hypoglossia/Aglossia	Weight loss	ORPHA:141152
Huntington Disease-Like 2	Rigidity, Weight loss, Action tremor, Dystonia	OMIM:606438
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Hypoparathyroidism, Alopecia, Keratoconjunctivitis, Tympanosclerosis, Nail dystrophy, Cholelithia...	OMIM:240300
Recessive X-Linked Ichthyosis	Hyperkeratosis, Cryptorchidism, Ichthyosis	ORPHA:461
Raynaud-Claes Syndrome	Lower limb spasticity, Hypotonia, Generalized hypotonia, Dystonia	OMIM:300114
Mitochondrial Complex Iv Deficiency, Nuclear Type 12	Small for gestational age, Elevated circulating creatine kinase concentration, Hypoglycemia, Spas...	OMIM:619055
Hereditary Sensory And Autonomic Neuropathy Type 1	Penetrating foot ulcers, Skin ulcer, Hyperkeratosis, Distal amyotrophy, Foot dorsiflexor weakness	ORPHA:36386
D-Glyceric Aciduria	Axial hypotonia, Hypoglycemia, Hypotonia, Spastic tetraplegia, Opisthotonus, Neonatal hypotonia, ...	OMIM:220120
Alpha-N-Acetylgalactosaminidase Deficiency	Recurrent pneumonia, Cardiomegaly	ORPHA:3137
Encephalocraniocutaneous Lipomatosis	Alopecia, Abnormal nasolacrimal system morphology, Lipodystrophy, Abnormal eyelid morphology, Abn...	ORPHA:2396
Glycogen Storage Disease Ib	Elevated hepatic transaminase, Hepatomegaly, Pancreatic fibrosis, Hypoglycemia, Hepatocellular ca...	OMIM:232220
Rothmund-Thomson Syndrome Type 1	Calcinosis, Osteopenia, Abnormal trabecular bone morphology, Plantar hyperkeratosis, Aplastic ane...	ORPHA:221008
Osteogenesis Imperfecta, Type Xiii	Dentinogenesis imperfecta, Protruding ear, Long eyelashes, Long palpebral fissure, Umbilical hern...	OMIM:614856
Mosaic Variegated Aneuploidy Syndrome 7 With Inflammation And Tumor Predisposition	Pilomatrixoma, Multinodular goiter, Embryonal rhabdomyosarcoma, Hyperkeratosis, Nevus, Lipoma	OMIM:620189
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome	Eunuchoid habitus, Obesity, Type II diabetes mellitus, Sparse body hair, Decreased testicular size	ORPHA:2234
Hallermann-Streiff Syndrome	Alopecia, Telecanthus, Sparse eyelashes, Abnormality of hair texture, Sparse eyebrow, Cryptorchid...	ORPHA:2108
Dystonia 1, Torsion, Autosomal Dominant	Torticollis, Generalized dystonia, Multiple joint contractures, Writer's cramp, Facial palsy, Tre...	OMIM:128100
Congenital Disorder Of Glycosylation, Type Ig	Failure to thrive, Small for gestational age, Hypoglycemia, Cryptorchidism, Hypotonia, Decreased ...	OMIM:607143
Blepharophimosis, Ptosis, And Epicanthus Inversus	Telecanthus, Highly arched eyebrow, Sparse pubic hair, Increased circulating gonadotropin level, ...	OMIM:110100
Intellectual Developmental Disorder, Autosomal Dominant 6, With Or Without Seizures	Inguinal hernia, Cryptorchidism, Generalized hypotonia, Dystonia, Spasticity	OMIM:613970
Neurodevelopmental Disorder With Regression, Abnormal Movements, Loss Of Speech, And Seizures	Hypotonia, Choreoathetosis, Dystonia, Weakness of facial musculature, Spasticity	OMIM:618088
Combined Oxidative Phosphorylation Deficiency 41	Hypoglycemia, Elevated circulating creatine kinase concentration, Anemia	OMIM:618838
Deafness-Lymphedema-Leukemia Syndrome	Hepatomegaly, Abnormal neutrophil count, Splenomegaly, Leukocytosis, Lymphadenopathy, Acute leuke...	ORPHA:3226
Alternating Hemiplegia Of Childhood 1	Choreoathetosis, Dystonia	OMIM:104290
Hyperphenylalaninemia, Bh4-Deficient, A	Axial hypotonia, Small for gestational age, Tremor, Rigidity, Choreoathetosis, Hypertonia, Dyston...	OMIM:261640
Episodic Kinesigenic Dyskinesia 1	Paroxysmal dystonia, Paroxysmal choreoathetosis	OMIM:128200
Waardenburg Syndrome, Type 1	Telecanthus, White eyelashes, White eyebrow, Congenital sensorineural hearing impairment, Synophr...	OMIM:193500
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Hypospadias, Ventricular septal defect, Cardiomegaly, Micropenis, Hypertrophic cardiomyopathy, Pu...	OMIM:616897
Immunodeficiency 59 And Hypoglycemia	Hepatomegaly, Complete or near-complete absence of specific antibody response to unconjugated pne...	OMIM:233600
Tyrosinemia, Type I	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Hypoglycemia, Elevated circul...	OMIM:276700
Chops Syndrome	Curly hair, Thick hair, Cryptorchidism, Synophrys, Coarse hair, Long eyelashes, Thickened helices...	OMIM:616368
Leukoencephalopathy With Dystonia And Motor Neuropathy	Intention tremor, Torticollis, Head tremor, Dystonia	OMIM:613724
Simpson-Golabi-Behmel Syndrome	Omphalocele, Hepatomegaly, Inguinal hernia, Hypoglycemia, Camptodactyly of finger, Congenital dia...	ORPHA:373
Chronic Mucocutaneous Candidiasis	Abnormal fingernail morphology, Abnormal dental enamel morphology, Broad nail, Skin ulcer, Hepati...	ORPHA:1334
Leber Optic Atrophy And Dystonia	Athetosis, Spasticity, Skeletal muscle atrophy, Dystonia	OMIM:500001
Nestor-Guillermo Progeria Syndrome	Sparse scalp hair, Alopecia, Sparse eyelashes, Lipoatrophy, Sparse eyebrow, Flexion contracture, ...	OMIM:614008
Naxos Disease	Subungual hyperkeratosis, Curly hair, Abnormal morphology of right ventricular trabeculae, Acanth...	OMIM:601214
Chondrodysplasia Punctata 2, X-Linked Dominant	Sparse eyelashes, Abnormal pinna morphology, Sparse eyebrow, Patchy alopecia, Sparse hair, Downsl...	OMIM:302960
Mitochondrial Complex I Deficiency, Nuclear Type 13	Failure to thrive, Spasticity, Generalized dystonia, Hepatomegaly	OMIM:618235
Cimdag Syndrome	Hepatomegaly, Lipodystrophy, Microvesicular hepatic steatosis, Hypotonia, Dystonia, Cholelithiasi...	OMIM:619273
Hyperphenylalaninemia, Mild, Non-Bh4-Deficient	Axial hypotonia, Oculogyric crisis, Hypertonia, Generalized hypotonia, Dystonia, Limb hypertonia	OMIM:617384
Autosomal Recessive Robinow Syndrome	Low-set, posteriorly rotated ears, Alopecia, Epicanthus, Inguinal hernia, Camptodactyly of finger...	ORPHA:1507
Marshall Syndrome	Sparse eyelashes, Sparse eyebrow, Sensorineural hearing impairment, Wide nasal bridge, Sparse hai...	ORPHA:560
Amelo-Onycho-Hypohidrotic Syndrome	Abnormal fingernail morphology, Abnormal dental enamel morphology, Hypoplastic toenails, Fine hai...	ORPHA:1028
Houge-Janssens Syndrome 1	Congenital muscular torticollis, Facial hypotonia, Hypoglycemia, Hypotonia, Generalized hypotonia	OMIM:616355
Eec Syndrome	Aplasia/Hypoplasia of the skin, Slow-growing hair, Abnormal dental enamel morphology, Decreased r...	ORPHA:1896
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skeletal Anomalies, With Or Without Seizures	Preauricular pit, Torticollis, Hypoglycemia, Cryptorchidism, Low anterior hairline, Hypotonia, Ch...	OMIM:620224
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome	Alopecia, Psoriasiform dermatitis, Severe B lymphocytopenia, Alopecia totalis, Decreased response...	ORPHA:293978
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function	Ectopic posterior pituitary, Hypoglycemia, Decreased response to growth hormone stimulation test,...	ORPHA:226307
Leukodystrophy, Hypomyelinating, 16	Hypotonia, Choreoathetosis, Hypertonia, Dystonia, Failure to thrive, Intention tremor	OMIM:617964
Holoprosencephaly	Omphalocele, Diabetes mellitus, Failure to thrive in infancy, Hypoglycemia, Congenital diaphragma...	ORPHA:2162
Weaver Syndrome	Deep-set nails, Epicanthus, Inguinal hernia, Thin nail, Cryptorchidism, Fine hair, Hydrocele test...	OMIM:277590
Giant Cell Arteritis	Ptosis, Alopecia, Skin ulcer, Conductive hearing impairment, Hearing impairment	ORPHA:397
Orofaciodigital Syndrome Type 1	Alopecia, Brittle hair, Epicanthus, Telecanthus, Abnormal dental enamel morphology, Lip pit, Panc...	ORPHA:2750
Cranioectodermal Dysplasia 3	Telecanthus, Short nail, Broad nail, Fine hair, Cutis laxa, Sparse hair, Dry skin	OMIM:614099
Alternating Hemiplegia Of Childhood 2	Choreoathetosis, Dystonia	OMIM:614820
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency	Adrenal hyperplasia, Hypoglycemia	OMIM:201910
Hengel-Maroofian-Schols Syndrome	Foot joint contracture, Synophrys, Hypotonia, Dystonia, Spasticity, Thick eyebrow	OMIM:619641
Alveolar Echinococcosis	Liver abscess, Eosinophilia, Cholangitis, Portal hypertension, Pancreatic cysts, Hepatic cysts, A...	ORPHA:284
Adrenoleukodystrophy	Alopecia, Hearing impairment	OMIM:300100
Menke-Hennekam Syndrome 1	Short ear, Flexion contracture, Protruding ear, Sparse hair, Cryptorchidism, Low-set ears, Umbili...	OMIM:618332
Spinocerebellar Ataxia With Epilepsy	Tremor, Myopathy, Acute hepatic failure, Dystonia	ORPHA:254881
Thiamine Metabolism Dysfunction Syndrome 5 (Episodic Encephalopathy Type)	Lower limb spasticity, Hypotonia, Dystonia, Left ventricular hypertrophy, Spasticity, Intention t...	OMIM:614458
Neutral Lipid Storage Disease With Ichthyosis	Ptosis, Alopecia, Sensorineural hearing impairment, Small earlobe, Ectropion	ORPHA:98907
Epidermolysis Bullosa Simplex With Pyloric Atresia	Aplasia cutis congenita on trunk or limbs, Scarring alopecia of scalp, Skin erosion, Flexion cont...	ORPHA:158684
Lymphatic Malformation 12	Hydrocele testis, Hyperkeratosis, Inguinal hernia, Neonatal death	OMIM:620014
Multiple Mitochondrial Dysfunctions Syndrome 6	Spasticity, Failure to thrive, Hypotonia, Dystonia	OMIM:617954
Fucosidosis	Hepatomegaly, Splenomegaly, Flexion contracture, Vacuolated lymphocytes, Hypotonia, Spastic tetra...	OMIM:230000
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Rigidity, Splenomegaly, Microno...	ORPHA:309854
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome	Lower limb spasticity, Axial hypotonia, Abnormality of the musculature of the lower limbs, Obesit...	ORPHA:464282
Phosphoribosylpyrophosphate Synthetase Superactivity	Epicanthus, Hearing impairment, Cryptorchidism, Sensorineural hearing impairment, Low-set ears, S...	OMIM:300661
Maple Syrup Urine Disease	Hypoglycemia, Hypotonia, Hypertonia, Generalized hypotonia, Pancreatitis	OMIM:248600
Juvenile Polyposis Of Infancy	Refractory anemia, Subcutaneous lipoma, Cachexia, Hypoalbuminemia, Generalized hypotonia, Anemia	ORPHA:79076
Malonyl-Coa Decarboxylase Deficiency	Hypoglycemia, Hypotonia, Generalized hypotonia	OMIM:248360
Paroxysmal Exertion-Induced Dyskinesia	Choreoathetosis, Lower limb spasticity, Torsion dystonia, Dystonia	ORPHA:98811
17Q23.1Q23.2 Microdeletion Syndrome	Epicanthus, Sacral dimple, Highly arched eyebrow, Protruding ear, Congenital contracture, Long ey...	ORPHA:261279
Sheehan Syndrome	Hypoglycemia, Sparse axillary hair, Reduced circulating prolactin concentration, Sparse pubic hai...	ORPHA:91355
3-Hydroxy-3-Methylglutaric Aciduria	Nonketotic hypoglycemia, Hepatomegaly, Acute pancreatitis, Elevated hepatic transaminase, Spastic...	ORPHA:20
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1	Epicanthus, Inguinal hernia, Posteriorly rotated ears, Decreased response to growth hormone stimu...	OMIM:213980
Progressive Supranuclear Palsy-Parkinsonism Syndrome	Tremor, Axial muscle stiffness, Rigidity, Dystonia	ORPHA:240085
Kikuchi-Fujimoto Disease	Erythematous macule, Generalized lymphadenopathy, Elevated circulating C-reactive protein concent...	ORPHA:50918
Parkinson Disease 19A, Juvenile-Onset	Rigidity, Pill-rolling tremor, Hypomimic face, Dystonia, Spasticity, Limb hypertonia	OMIM:615528
Lmna-Related Cardiocutaneous Progeria Syndrome	Absent eyebrow, Lipoatrophy, Absent eyelashes, Premature graying of hair, Sparse hair, Premature ...	ORPHA:363618
Dentatorubral-Pallidoluysian Atrophy	Choreoathetosis, Dystonia	OMIM:125370
Celiac Disease, Susceptibility To, 1	Elevated hepatic transaminase, Alopecia, Macrocytic anemia, Osteoporosis, Rickets, Weight loss, I...	OMIM:212750
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration	Elevated hepatic transaminase, Hypoglycemia, Acute rhabdomyolysis, Elevated circulating creatine ...	OMIM:616878
Oculogastrointestinal Muscular Dystrophy	Skeletal muscle atrophy, Myopathy, Cachexia	ORPHA:1876
Foxg1 Syndrome	Dystonia, Hypotonia, Choreoathetosis, Decreased body weight, Spasticity	ORPHA:561854
Glycogen Storage Disease Ia	Elevated hepatic transaminase, Hepatomegaly, Decreased muscle mass, Hypoglycemia, Osteoporosis, X...	OMIM:232200
Vitamin D-Dependent Rickets, Type 2A	Epicanthus, Wide nasal bridge, Secondary hyperparathyroidism, Enamel hypoplasia, Alopecia univers...	OMIM:277440
Mandibuloacral Dysplasia Progeroid Syndrome	Osteopenia, Hepatomegaly, Elevated hepatic transaminase, Elevated hemoglobin A1c, Sparse eyebrow,...	OMIM:619127
Coach Syndrome 1	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Hypotonia, Hepati...	OMIM:216360
Oculodentodigital Dysplasia	Epicanthus, Dry hair, Slow-growing hair, Abnormal pinna morphology, Blepharophimosis, Conductive ...	OMIM:164200
3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Fulminant hepatic failure, Hypotonia, Hypoglycemic seizures, Hepatic necrosis, Generalized hypoto...	OMIM:231530
Curry-Jones Syndrome	Aplasia/Hypoplasia of the skin, Hypopigmented skin patches, Generalized hirsutism	ORPHA:1553
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome	Decreased retinol-binding protein level, Follicular hyperkeratosis	OMIM:615147
Lacrimoauriculodentodigital Syndrome 3	Absent lacrimal punctum, Epicanthus, Absent eyelashes, Cupped ear, Lacrimal duct aplasia, Microti...	OMIM:620193
Neurodegeneration With Brain Iron Accumulation 7	Lower limb spasticity, Axial hypotonia, Tremor, Hypotonia, Dystonia	OMIM:617916
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb	Sparse eyelashes, Sparse eyebrow, Cafe-au-lait spot, Macroorchidism, Enamel hypoplasia, Alopecia ...	OMIM:618874
Peeling Skin Syndrome 4	Hyperkeratosis, Palmoplantar keratoderma, Nail dystrophy, Ichthyosis, Orthokeratosis	OMIM:607936
Developmental And Epileptic Encephalopathy 25 With Amelogenesis Imperfecta	Axial hypotonia, Choreoathetosis, Amelogenesis imperfecta, Dystonia, Spasticity, Limb hypertonia	OMIM:615905
Ollier Disease	Subcutaneous nodule, Skin ulcer	ORPHA:296
Roifman Syndrome	Long palpebral fissure, Hip contracture, Downslanted palpebral fissures, Prominent eyelashes	OMIM:616651
Truncus Arteriosus	Atrial septal defect, Ventricular septal defect, Anomalous origin of one pulmonary artery from as...	ORPHA:3384
Refractory Celiac Disease	Normocytic anemia, Elevated hepatic transaminase, Macrocytic anemia, Microcytic anemia, Increased...	ORPHA:398063
Autosomal Recessive Spastic Paraplegia Type 53	Failure to thrive, Upper limb hypertonia, Limb dystonia	ORPHA:319199
Combined Oxidative Phosphorylation Defect Type 39	Lower limb spasticity, Cryptorchidism, Leg dystonia, Congenital foot contractures, Infantile axia...	ORPHA:565624
Cohen Syndrome	Thick hair, Abnormal eyelid morphology, Abnormal eyelash morphology, Cryptorchidism, Sensorineura...	ORPHA:193
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Accessory spleen, Lymphopenia, Elevated hepatic transaminase, Severe B lymphocytopenia, Portal hy...	OMIM:620005
Anemia, Congenital Dyserythropoietic, Type Iv	Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti...	OMIM:613673
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2	Sparse hair, Hyperconvex nail, Hearing impairment	OMIM:619721
Progeria-Short Stature-Pigmented Nevi Syndrome	Neoplasm of the pancreas, Alopecia, Multiple joint contractures, Lack of facial subcutaneous fat,...	ORPHA:2959
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome	Elevated hepatic transaminase, Hypoglycemia, Acute rhabdomyolysis, Elevated circulating creatine ...	ORPHA:480864
Convulsions, Familial Infantile, With Paroxysmal Choreoathetosis	Paroxysmal dystonia, Paroxysmal choreoathetosis	OMIM:602066
Ectodermal Dysplasia/Short Stature Syndrome	Hyperkeratosis, Palmoplantar keratoderma, Nail dystrophy, Enamel hypoplasia, Anonychia	OMIM:616029
Caroli Disease	Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Splenomegaly, ...	ORPHA:53035
Beckwith-Wiedemann Syndrome	Congenital diaphragmatic hernia, Large for gestational age, Leiomyosarcoma, Hepatoblastoma, Polyc...	ORPHA:116
Attrv122I Amyloidosis	Cardiomegaly, Cardiac amyloidosis, Aortic valve stenosis, Left ventricular hypertrophy, Restricti...	ORPHA:85451
Microcephaly, Developmental Delay, And Brittle Hair Syndrome	Brittle hair, Small for gestational age, Failure to thrive in infancy, Flexion contracture, Hypot...	OMIM:618891
Nkx6-2-Related Autosomal Recessive Hypomyelinating Leukodystrophy	Head titubation, Generalized hypotonia, Dystonia, Progressive spasticity, Hirsutism	ORPHA:527497
Congenital Disorder Of Glycosylation, Type Ii	Hepatomegaly, Dystonia, Iron deficiency anemia, Generalized hypotonia, Decreased body weight	OMIM:607906
Addison Disease	Normocytic anemia, Hypoparathyroidism, Primary testicular failure, Hypoglycemia, Sparse axillary ...	ORPHA:85138
Autosomal Recessive Dopa-Responsive Dystonia	Generalized dystonia, Postural tremor, Oculogyric crisis, Rigidity, Hypotonia, Focal dystonia, Ge...	ORPHA:101150
Developmental And Epileptic Encephalopathy 92	Spasticity, Dystonia	OMIM:617829
Vulvovaginal Gingival Syndrome	Ridged nail, Skin erosion, Parakeratosis, Abnormality of tumor necrosis factor secretion	ORPHA:83453
Rothmund-Thomson Syndrome Type 2	Calcinosis, Osteopenia, Abnormal trabecular bone morphology, Plantar hyperkeratosis, Aplastic ane...	ORPHA:221016
Spastic Paraplegia 26, Autosomal Recessive	Distal lower limb amyotrophy, Lower limb spasticity, Spastic paraplegia, Upper limb muscle weakne...	OMIM:609195
Orthostatic Hypotension 2	Hypoglycemia, Anemia	OMIM:618182
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Alopecia, Psoriasiform lesion	ORPHA:169154
Cerebral Arteriopathy, Autosomal Recessive, With Subcortical Infarcts And Leukoencephalopathy	Alopecia	OMIM:600142
Cerebellar Ataxia-Areflexia-Pes Cavus-Optic Atrophy-Sensorineural Hearing Loss Syndrome	Dystonia	ORPHA:1171
19P13.13 Microdeletion Syndrome	Epicanthus, Cafe-au-lait spot, Long eyelashes, Low-set ears, Short nose, Macrotia, Downslanted pa...	ORPHA:357001
Erythrokeratodermia Variabilis Et Progressiva 3	Hypergranulosis, Leukonychia, Hyperkeratosis, Palmoplantar keratoderma, Orthokeratosis	OMIM:617525
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease	Alopecia, Striae distensae, Dorsocervical fat pad, Pituitary adenoma, Primary hyperparathyroidism...	ORPHA:189427
Phelan-Mcdermid Syndrome	Epicanthus, Sacral dimple, Palpebral edema, Hearing impairment, Hypoplastic toenails, Wide nasal ...	OMIM:606232
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome	Low-set, posteriorly rotated ears, Pericallosal lipoma, Epicanthus, Sparse eyelashes, Camptodacty...	ORPHA:306542
Pyruvate Dehydrogenase Deficiency	Tremor, Osteolytic defects of the middle phalanx of the 4th toe, Hypotonia, Choreoathetosis, Mult...	ORPHA:765
Developmental And Epileptic Encephalopathy 51	Skeletal muscle atrophy, Supernumerary nipple, Hypotonia, Dystonia, Failure to thrive	OMIM:617339
Mitochondrial Complex Iv Deficiency, Nuclear Type 7	Ventricular hypertrophy, Hypertrophic cardiomyopathy, Cardiomegaly	OMIM:619051
Short Stature, Microcephaly, And Endocrine Dysfunction	Inguinal hernia, Diabetes mellitus, Cryptorchidism, Insulin resistance, Acanthosis nigricans, Tru...	OMIM:616541
Neurodevelopmental Disorder With Hypotonia And Autistic Features With Or Without Hyperkinetic Movements	Axial hypotonia, Dystonia	OMIM:618760
Orofaciodigital Syndrome I	Alopecia, Dry hair, Epicanthus, Telecanthus, Pancreatic cysts, Wide nasal bridge, Ovarian cyst, L...	OMIM:311200
Episodic Ataxia, Type 9	Dystonia	OMIM:618924
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2	Cutis laxa, Atrophic scars, Sparse hair, Joint contracture, Dermal translucency	OMIM:615349
Xp22.3 Microdeletion Syndrome	Sacral dimple, Aplasia/Hypoplasia of the skin, Polycystic ovaries	ORPHA:1643
Basal Ganglia Calcification, Idiopathic, 8, Autosomal Recessive	Generalized dystonia, Rigidity, Hypertonia, Limb dystonia, Hypomimic face	OMIM:618824
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Psoriasiform dermatitis, Patchy alopecia, Scaling skin, Cellulitis, Alopecia universalis	OMIM:606367
Roifman Syndrome	Long palpebral fissure, Hip contracture, Prominent eyelashes, Hyperconvex nail	ORPHA:353298
Acth Deficiency, Isolated	Cholestasis, Adrenocorticotropic hormone deficiency, Fasting hypoglycemia, Jaundice	OMIM:201400
Birk-Barel Syndrome	Reduced subcutaneous adipose tissue, Sacral dimple, Long eyelashes, Highly arched eyebrow	OMIM:612292
Hyperpigmentation With Or Without Hypopigmentation, Familial Progressive	Hypermelanotic macule, Hypopigmented skin patches, Hyperkeratosis, Multiple lentigines, Cafe-au-l...	OMIM:145250
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency	Alopecia, Hearing impairment	ORPHA:412057
Seckel Syndrome	Sparse scalp hair, Craniosynostosis, Abnormal dental enamel morphology, Cachexia	ORPHA:808
Diaphanospondylodysostosis	Delayed vertebral ossification, Inguinal hernia, Absent in utero ossification of vertebral bodies...	OMIM:608022
Pontocerebellar Hypoplasia, Type 2C	Dystonia	OMIM:612390
Spinocerebellar Ataxia 28	Lower limb hypertonia, Ragged-red muscle fibers, Spasticity, Dystonia	OMIM:610246
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia	Osteopenia, Hypoglycemia, Decreased response to growth hormone stimulation test, Delayed epiphyse...	OMIM:616007
Mucolipidosis Ii Alpha/Beta	Osteopenia, Hepatomegaly, Inguinal hernia, Axial hypotonia, Brittle hair, Diastasis recti, Increa...	OMIM:252500
Primary Sclerosing Cholangitis	Osteopenia, Acute hepatic failure, Abnormal eosinophil morphology, Hypoalbuminemia, Generalized a...	ORPHA:171
Spinocerebellar Ataxia 12	Axial dystonia, Facial myokymia, Head tremor, Action tremor	OMIM:604326
Fanconi-Bickel Syndrome	Reduced subcutaneous adipose tissue, Hepatomegaly, Osteomalacia, Elevated circulating aspartate a...	OMIM:227810
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Elevated hepatic transaminase, Exercise-induced rhabdomyolysis, Hepatomegaly, Small for gestation...	ORPHA:26793
Episodic Kinesigenic Dyskinesia 2	Dystonia	OMIM:611031
Intellectual Developmental Disorder, Autosomal Dominant 43	Synophrys, Hypotonia, Dystonia, Umbilical hernia, Failure to thrive, Hirsutism	OMIM:616977
Baker-Gordon Syndrome	Choreoathetosis, Neonatal hypotonia, Dystonia	OMIM:618218
Shigellosis	Failure to thrive in infancy, Hypoglycemia, Leukocytosis, Rhabdomyolysis, Peritonitis, Cholestasi...	ORPHA:810
Leukonychia Totalis	Abnormal fingernail morphology, Abnormal eyelash morphology, Adenoma sebaceum, Abnormal toenail m...	ORPHA:2387
Mucopolysaccharidosis-Plus Syndrome	Epicanthus, Telecanthus, Synophrys, Flexion contracture, Low anterior hairline, Wide nasal bridge...	OMIM:617303
Pyruvate Dehydrogenase E1-Alpha Deficiency	Small for gestational age, Tremor, Hypotonia, Choreoathetosis, Generalized hypotonia, Dystonia	OMIM:312170
Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements	Choreoathetosis, Hypotonia, Dystonia	OMIM:618497
Paroxysmal Kinesigenic Dyskinesia	Athetosis, Writer's cramp, Dystonia	ORPHA:98809
Infantile Dystonia-Parkinsonism	Axial hypotonia, Oculogyric crisis, Hypomimic face, Hypertonia, Dystonia, Limb hypertonia	ORPHA:238455
Spinocerebellar Ataxia Type 2	Kinetic tremor, Postural tremor, Generalized hypotonia, Dystonia	ORPHA:98756
Hajdu-Cheney Syndrome	Telecanthus, Inguinal hernia, Abnormal fingernail morphology, Synophrys, Low anterior hairline, W...	ORPHA:955
Intestinal Dysmotility Syndrome	Failure to thrive, Hypotonia, Weight loss	OMIM:620045
Ataxia-Oculomotor Apraxia Type 4	Progressive distal muscular atrophy, Obesity, Muscular dystrophy, Dystonia, Distal lower limb mus...	ORPHA:459033
Fructose-1,6-Bisphosphatase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Hypotonia, Fasting hypoglycemia, Hepat...	ORPHA:348
Mepan Syndrome	Axial dystonia, Dystonia, Hemidystonia, Hypotonia, Limb dystonia, Spasticity, Failure to thrive, ...	ORPHA:508093
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Elevated hepatic transaminase, Hepatomegaly, Diabetes mellitus, Hypoglycemia, Large for gestation...	OMIM:616026
Microcephaly 26, Primary, Autosomal Dominant	Prominent eyelashes, Wide nasal bridge, Upslanted palpebral fissure, Long palpebral fissure, Shor...	OMIM:619179
Intellectual Developmental Disorder, X-Linked 111	Spasticity, Dystonia	OMIM:301107
Liang-Wang Syndrome	Macroglossia, Synophrys, Axial hypotonia, Dystonia	OMIM:618729
Hypocalcemic Vitamin D-Resistant Rickets	Alopecia, Hyperparathyroidism, Abnormal adipose tissue morphology	ORPHA:93160
Juvenile Huntington Disease	Rigidity, Weight loss, Oral motor hypotonia, Dystonia	ORPHA:248111
Chronic Hiccup	Abnormality of the diaphragm, Weight loss	ORPHA:396
Neurodegeneration And Seizures Due To Copper Transport Defect	Glandular hypospadias, Pneumothorax, Pulmonary hypoplasia, Cardiomegaly	OMIM:620306
Pityriasis Rubra Pilaris	Subungual hyperkeratosis, Parakeratosis, Hypergranulosis, Erythematous plaque, Palmoplantar kerat...	OMIM:173200
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures	Axial hypotonia, Dystonia	OMIM:619150
Lipoyltransferase 1 Deficiency	Elevated hepatic transaminase, Axial hypotonia, Spastic tetraparesis, Hypotonia, Decreased liver ...	OMIM:616299
Juvenile Dermatomyositis	Alopecia, Palpebral edema, Erythema, Skin ulcer, Dry skin	ORPHA:93672
Pyoderma Gangrenosum	Skin vesicle, Atrophic scars, Papule, Skin ulcer	ORPHA:48104
Hypermanganesemia With Dystonia 1	Elevated hepatic transaminase, Hepatomegaly, Tremor, Rigidity, Decreased liver function, Cirrhosi...	OMIM:613280
Hallermann-Streiff Syndrome	Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Cryptorchidism, Fine hair, Dermal atrophy, L...	OMIM:234100
Acute Adrenal Insufficiency	Normocytic anemia, Hypoglycemia, Sparse axillary hair, Hypotonia, Weight loss, Increased circulat...	ORPHA:95409
Neurodegeneration With Brain Iron Accumulation 3	Writer's cramp, Tremor, Rigidity, Choreoathetosis, Blepharospasm, Decreased circulating ferritin ...	OMIM:606159
Osteogenesis Imperfecta, Type I	Otosclerosis, Dentinogenesis imperfecta, Thin skin, Hearing impairment	OMIM:166200
Chromosome 6Q24-Q25 Deletion Syndrome	Medial flaring of the eyebrow, Sparse eyelashes, Hooded eyelid, Cupped ear, Low posterior hairlin...	OMIM:612863
Hyperphenylalaninemia, Bh4-Deficient, B	Severe muscular hypotonia, Tremor, Rigidity, Choreoathetosis, Generalized hypotonia, Dystonia, Li...	OMIM:233910
Pontocerebellar Hypoplasia, Type 9	Axial hypotonia, Facial hypotonia, Macroglossia, Hypertonia, Dystonia, Spasticity	OMIM:615809
Neurodegeneration, Early-Onset, With Choreoathetoid Movements And Microcytic Anemia	Axial hypotonia, Microcytic anemia, Choreoathetosis, Hypertonia, Hypochromic anemia, Dystonia, Sp...	OMIM:618451
Linear Nevus Sebaceus Syndrome	Alopecia, Adenoma sebaceum, Telecanthus, Melanocytic nevus	ORPHA:2612
Mitochondrial Trifunctional Protein Deficiency 2	Increased circulating NT-proBNP concentration, Hypoglycemia, Elevated circulating creatine kinase...	OMIM:620300
Choreoacanthocytosis	Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Acanthocytosis, Limb...	OMIM:200150
Cockayne Syndrome B	Reduced subcutaneous adipose tissue, Hepatomegaly, Dry hair, Small for gestational age, Tremor, A...	OMIM:133540
Isolated Agammaglobulinemia	Skin ulcer, Cellulitis	ORPHA:229717
Dystonia 28	Torticollis, Generalized dystonia, Leg dystonia, Arm dystonia, Oromandibular dystonia	ORPHA:589618
Laron Syndrome	Truncal obesity, Hypoglycemia	ORPHA:633
Sotos Syndrome	Sparse eyebrow, Cryptorchidism, Hypotonia, Increased body weight, Glucose intolerance, Small nail...	OMIM:117550
Leukodystrophy, Hypomyelinating, 2	Axial hypotonia, Dystonia, Facial palsy, Rigidity, Head titubation, Choreoathetosis, Progressive ...	OMIM:608804
Wars2-Related Combined Oxidative Phosphorylation Defect	Neonatal hypoglycemia, Tremor, Thrombocytopenia, Spastic tetraplegia, Athetosis, Generalized amyo...	ORPHA:572798
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)	Elevated hepatic transaminase, Skeletal muscle atrophy, Small for gestational age, Neutropenia, H...	OMIM:615471
Dyskeratosis Congenita, Autosomal Recessive 1	Sparse scalp hair, Sparse eyelashes, Pterygium of nails, Nasolacrimal duct obstruction, Nail dyst...	OMIM:224230
Hermansky-Pudlak Syndrome 10	Hepatomegaly, Axial hypotonia, Dystonia, Albinism, Splenomegaly, Generalized hypotonia, Neutropenia	OMIM:617050
Chime Syndrome	Epicanthus, Hearing impairment, Erythema, Skin ulcer, Fine hair, Upslanted palpebral fissure, Spa...	ORPHA:3474
Dyskinesia With Orofacial Involvement, Autosomal Dominant	Resting tremor, Axial hypotonia, Hypotonia, Choreoathetosis, Facial myokymia, Dystonia, Limb hype...	OMIM:606703
Noonan Syndrome 2	Curly hair, Sparse eyebrow, Cryptorchidism, Low posterior hairline, Hyperkeratosis, Nevus, Arthro...	OMIM:605275
Neurodevelopmental Disorder, Nonprogressive, With Spasticity And Transient Opisthotonus	Axial hypotonia, Generalized dystonia, Spastic tetraparesis, Opisthotonus, Choreoathetosis, Dista...	OMIM:619653
Pruritic Urticarial Papules And Plaques Of Pregnancy	Urticarial plaque, Parakeratosis, Increased body weight, Erythematous plaque, Skin vesicle, Eryth...	ORPHA:64745
Familial Multiple Nevi Flammei	Nevus flammeus, Skin ulcer, Hypermelanotic macule, Papule	ORPHA:624
Cartilage-Hair Hypoplasia	Sparse eyelashes, Sparse facial hair, Sparse eyebrow, Fine hair, Sparse hair, Fair hair	OMIM:250250
Primary Hepatic Neuroendocrine Carcinoma	Elevated hepatic transaminase, Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Chr...	ORPHA:100085
Dystonia 16	Torticollis, Postural tremor, Limb dystonia	ORPHA:210571
Neuraminidase Deficiency	Splenomegaly, Hepatomegaly, Cardiomyopathy, Cardiomegaly	OMIM:256550
Diencephalic-Mesencephalic Junction Dysplasia Syndrome 2	Spastic tetraplegia, Dystonia	OMIM:618646
Vohwinkel Syndrome, Variant Form	Parakeratosis, Hypergranulosis, Honeycomb palmoplantar hyperkeratosis, Hyperkeratosis, Orthokerat...	OMIM:604117
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Abnormal eyelid morphology, Hyperconvex fingernails, Conjunctivitis, Sparse hair, Abnormality of ...	ORPHA:2273
Mucolipidosis Type Ii	Hip contracture, Inguinal hernia, Axial hypotonia, Dry hair, Diastasis recti, Craniosynostosis, S...	ORPHA:576
Dystonia 3, Torsion, X-Linked	Tremor, Torsion dystonia	OMIM:314250
Spastic Paraplegia 80, Autosomal Dominant	Lower limb spasticity, Spastic paraplegia, Upper limb spasticity, Dystonia	OMIM:618418
Mitochondrial Complex I Deficiency, Nuclear Type 1	Skeletal muscle atrophy, Hepatomegaly, Hypoglycemia, Splenomegaly, Ragged-red muscle fibers, Hypo...	OMIM:252010
Infantile Liver Failure Syndrome 2	Elevated hepatic transaminase, Jaundice, Hypoglycemia, Acute hepatic failure	OMIM:616483
Harel-Yoon Syndrome	Axial hypotonia, Hypotonia, Distal amyotrophy, Dystonia, Spasticity	OMIM:617183
Thymic Neuroendocrine Tumor	Osteopenia, Chronic noninfectious lymphadenopathy, Pancreatic islet cell adenoma, Pituitary null ...	ORPHA:97289
Neuropathy, Hereditary Sensory, Type If	Hyperkeratosis, Osteolytic defects of the phalanges of the hand	OMIM:615632
Combined Oxidative Phosphorylation Deficiency 50	Generalized dystonia	OMIM:619025
Restrictive Dermopathy	Telecanthus, Entropion, Multiple joint contractures, Short nail, Camptodactyly of finger, Sparse ...	ORPHA:1662
Coenzyme Q10 Deficiency, Primary, 5	Hypotonia, Hypertonia, Generalized hypotonia, Dystonia, Left ventricular hypertrophy, Decreased l...	OMIM:614654
Pontocerebellar Hypoplasia, Type 10	Highly arched eyebrow, Cryptorchidism, Synophrys, Wide nasal bridge, Long eyelashes, Long palpebr...	OMIM:615803
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly	Epicanthus, Fine hair, Nail dysplasia, Sparse hair, Aplasia/Hypoplasia of the eyebrow	OMIM:614091
Autosomal Recessive Spastic Ataxia With Leukoencephalopathy	Spastic dysarthria, Spasticity, Dystonia	ORPHA:314603
Combined Oxidative Phosphorylation Deficiency 32	Tremor, Hypotonia, Choreoathetosis, Joint contracture, Dystonia, Spasticity	OMIM:617664
Ectodermal Dysplasia And Immunodeficiency 2	Sparse scalp hair, Hepatomegaly, Defective production of NFKB1-dependent cytokines, Splenomegaly,...	OMIM:612132
Coronary Arterial Fistula	Bicuspid aortic valve, Cardiomegaly, Abnormal heart morphology, Right ventricular dilatation, Bac...	ORPHA:2041
Hypercarotenemia And Vitamin A Deficiency, Autosomal Recessive	Follicular hyperkeratosis	OMIM:277350
Costello Syndrome	Deep-set nails, Curly hair, Hypoglycemia, Nevus, Thin nail, Concave nail, Rhabdomyosarcoma, Wide ...	OMIM:218040
Spinocerebellar Ataxia, Autosomal Recessive 17	Synophrys, Hypotonia, Appendicular hypotonia, Dystonia, Thick eyebrow, Intention tremor	OMIM:616127
Myoectodermal Gonadal Dysgenesis Syndrome	Omphalocele, Epicanthus, Posteriorly rotated ears, Elevated circulating luteinizing hormone level...	OMIM:618419
Mohr-Tranebjaerg Syndrome	Tremor, Spasticity, Intrinsic hand muscle atrophy, Dystonia	OMIM:304700
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency	Spasticity, Hypotonia, Generalized hypotonia, Dystonia	OMIM:616277
Aicardi-Goutières Syndrome	Elevated hepatic transaminase, Myositis, Extrapyramidal muscular rigidity, Axial hypotonia, Dysto...	ORPHA:51
Glut1 Deficiency Syndrome 1	Choreoathetosis, Paroxysmal dystonia, Spasticity	OMIM:606777
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome	Telecanthus, Epicanthus, Inguinal hernia, Highly arched eyebrow, Uplifted earlobe, Conductive hea...	OMIM:280000
Spinocerebellar Ataxia, Autosomal Recessive 31	Tremor, Axial hypotonia, Choreoathetosis, Dystonia	OMIM:619422
Mycetoma	Subcutaneous nodule, Osteoporosis, Bone cyst, Abnormality of the lymphatic system, Cobblestone-li...	ORPHA:2583
Aphonia-Deafness-Retinal Dystrophy-Bifid Halluces-Intellectual Disability Syndrome	Low-set, posteriorly rotated ears, Short nail, Bilateral ptosis, Sensorineural hearing impairment...	ORPHA:324540
Tay-Sachs Disease	Skeletal muscle atrophy, Exaggerated startle response, Dystonia, Hip flexor weakness, Increased s...	ORPHA:845
Anaplastic Thyroid Carcinoma	Weight loss, Lymphadenopathy, Abnormal skeletal muscle morphology, Nodular goiter, Goiter	ORPHA:142
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome	Spastic dysarthria, Abnormal mitochondria in muscle tissue, Distal amyotrophy, Dystonia, Spastic ...	ORPHA:313772
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form	Skeletal muscle atrophy, Decreased body weight, Failure to thrive, Skin erosion, Flexion contract...	ORPHA:89842
Porokeratosis 3, Multiple Types	Parakeratosis, Porokeratosis, Nail dystrophy	OMIM:175900
Insensitivity To Pain, Congenital, With Anhidrosis	Sparse scalp hair, Corneal scarring, Acral ulceration, Nail dystrophy, Nail dysplasia	OMIM:256800
Parkinson Disease 2, Autosomal Recessive Juvenile	Tremor, Rigidity, Dystonia	OMIM:600116
Aicardi-Goutieres Syndrome 7	Lower limb spasticity, Hemolytic anemia, Axial hypotonia, Generalized lymphadenopathy, Pancytopen...	OMIM:615846
Localized Scleroderma	Abnormal skin adnexa morphology, Fasciitis, Cutaneous sclerotic plaque, Localized skin lesion, Fl...	ORPHA:90289
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis	Tremor, Postural tremor, Rigidity, Dystonia	ORPHA:314632
Dystonia 7, Torsion	Torticollis, Writer's cramp, Torsion dystonia, Hand tremor, Blepharospasm, Skeletal muscle hypert...	OMIM:602124
Intellectual Developmental Disorder, Autosomal Dominant 1	Highly arched eyebrow, Cupped ear, Low posterior hairline, Protruding ear, Microtia, Long eyelash...	OMIM:156200
3-Methylglutaconic Aciduria, Type I	Spastic tetraplegia, Athetosis, Dystonia, Spasticity, Failure to thrive	OMIM:250950
Cdags Syndrome	Sparse scalp hair, Ptosis, Sparse eyelashes, Sparse eyebrow, Sensorineural hearing impairment, Ec...	OMIM:603116
Budd-Chiari Syndrome	Elevated hepatic transaminase, Hepatomegaly, Acute hepatic failure, Portal hypertension, Splenome...	ORPHA:131
Leukodystrophy, Progressive, Early Childhood-Onset	Appendicular spasticity, Axial hypotonia, Dystonia, Joint contracture, Thick eyebrow	OMIM:617762
Hermansky-Pudlak Syndrome	Hypopigmentation of hair, Abnormal dental enamel morphology, Thickened skin, Melanocytic nevus, W...	ORPHA:79430
Developmental Delay And Seizures With Or Without Movement Abnormalities	Tremor, Rigidity, Generalized hypotonia, Dystonia	OMIM:617836
Familial Dyskinesia And Facial Myokymia	Resting tremor, Axial hypotonia, Dystonia, Facial myokymia, Limb hypertonia	ORPHA:324588
Leukoencephalopathy, Cystic, Without Megalencephaly	Athetosis, Spasticity, Dystonia	OMIM:612951
Aymé-Gripp Syndrome	Sparse scalp hair, Inguinal hernia, Posteriorly rotated ears, Congenital diaphragmatic hernia, Cr...	ORPHA:1272
Niemann-Pick Disease, Type C1	Hepatomegaly, Fatal liver failure in infancy, Bone-marrow foam cells, Splenomegaly, Hypotonia, Pr...	OMIM:257220
Dermatomyositis	Abnormal hair quantity, Aplasia/Hypoplasia of the skin, Abnormal eyelid morphology, Erythema, Ski...	ORPHA:221
Neurodevelopmental Disorder With Spasticity And Poor Growth	Epicanthus, Synophrys, Achilles tendon contracture, Nail pits, Knee flexion contracture, Large ea...	OMIM:618076
Familial Keratoacanthoma	Papule, Subcutaneous nodule, Adenoma sebaceum, Skin ulcer	ORPHA:493
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features	Parakeratosis, Tremor, Spastic paraplegia, Hyperkeratosis, Ichthyosis, Acanthosis nigricans, Spas...	OMIM:618527
Parkinson Disease 6, Autosomal Recessive Early-Onset	Rigidity, Resting tremor, Dystonia	OMIM:605909
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency	Neonatal hypoglycemia, Cryptorchidism, Adrenocorticotropic hormone excess, Increased circulating ...	ORPHA:90791
Acute Radiation Syndrome	Skin ulcer, Hyperkeratosis, Dermal atrophy, Granulocytopenia, Lymphopenia, Thrombocytopenia	ORPHA:454831
Carnitine-Acylcarnitine Translocase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Rhabdomyolysis, Fasting hypoglycemia, Elevated creat...	ORPHA:159
Autosomal Recessive Cutis Laxa Type 2A	Inguinal hernia, Thick hair, Wide anterior fontanel, Hypotonia, Athetosis, Dystonia, Spasticity	ORPHA:357058
Cryoglobulinemic Vasculitis	Keratoconjunctivitis sicca, Petechiae, Skin ulcer, Purpura	ORPHA:91138
Oromandibular Dystonia	Torticollis, Generalized dystonia, Weight loss, Blepharospasm, Limb dystonia, Lingual dystonia, L...	ORPHA:93958
Birk-Landau-Perez Syndrome	Axial hypotonia, Facial hypotonia, Failure to thrive in infancy, Increased circulating creatine k...	OMIM:617595
Cerebellar-Facial-Dental Syndrome	Inguinal hernia, Foot joint contracture, Sparse eyebrow, Cryptorchidism, Wide nasal bridge, Fine ...	ORPHA:444072
Toriello-Lacassie-Droste Syndrome	Epicanthus, Telecanthus, Aplasia/Hypoplasia of the skin, Blepharophimosis, Eyelid coloboma, Abnor...	ORPHA:3339
Aica-Ribosuria Due To Atic Deficiency	Skin dimple, Hypoglycemia, Hypotonia	OMIM:608688
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency	Tremor, Hypotonia, Dystonia	ORPHA:139485
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis	Osteopenia, Diabetes mellitus, Small for gestational age, Hypotonia, Nail dysplasia, Small nail, ...	OMIM:614813
Histidinuria-Renal Tubular Defect Syndrome	Hypoplastic toenails, Hypoglycemia	ORPHA:2158
Pyruvate Dehydrogenase E3-Binding Protein Deficiency	Neonatal hypotonia, Spastic paraplegia, Spastic tetraplegia, Dystonia	OMIM:245349
Glycine Encephalopathy With Normal Serum Glycine	Hip contracture, Flexion contracture, Elbow flexion contracture, Long eyelashes, Low-set ears, Ar...	OMIM:617301
Cowden Syndrome	Macule, Enlarged polycystic ovaries, Subcutaneous nodule, Bone cyst, Hypopigmented skin patches, ...	ORPHA:201
Isaacs Syndrome	Calf muscle hypertrophy, Weight loss	ORPHA:84142
Sarcoidosis	Increased T cell count, Subcutaneous nodule, Leukopenia, Hemolytic anemia, Alopecia, Hepatomegaly...	ORPHA:797
Peripheral Primitive Neuroectodermal Tumor	Neoplasm of the pancreas, Torticollis, Elevated carcinoma antigen 125 level, Elevated circulating...	ORPHA:370348
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency	Elevated hepatic transaminase, Ketotic hypoglycemia, Glycosuria, Postprandial hyperglycemia, Fail...	ORPHA:2089
2,4-Dienoyl-Coa Reductase Deficiency	Hypotonia, Choreoathetosis, Dystonia, Spasticity, Failure to thrive	OMIM:616034
Glucocorticoid Resistance, Generalized	Hypoglycemia, Hirsutism	OMIM:615962
Mitochondrial Myopathy With Lactic Acidosis	Spasticity, Hypotonia, Dystonia	OMIM:251950
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne	Pyoderma gangrenosum, Cellulitis, Elbow flexion contracture, Knee flexion contracture	OMIM:604416
Brain Dopamine-Serotonin Vesicular Transport Disease	Axial hypotonia, Dystonia, Oculogyric crisis, Spastic tetraparesis, Tremor, Hypertonia, Generaliz...	ORPHA:352649
Spastic Ataxia 5, Autosomal Recessive	Distal amyotrophy, Increased intramyocellular lipid droplets, Dystonia, Spastic paraparesis, Spas...	OMIM:614487
Lopes-Maciel-Rodan Syndrome	Axial hypotonia, Tremor, Hypertonia, Dystonia, Spasticity	OMIM:617435
Wolfram Syndrome 1	Diabetes mellitus, Diabetes insipidus, Cardiomyopathy, Hypothyroidism, Testicular atrophy	OMIM:222300
Branchiooculofacial Syndrome	Postauricular pit, Premature graying of hair, Conductive hearing impairment, Sparse hair, Hypopla...	OMIM:113620
Acrofrontofacionasal Dysostosis 1	Mixed hearing impairment, Long eyebrows, Widow's peak, Wide nasal bridge, Long eyelashes, S-shape...	OMIM:201180
Epidermolysis Bullosa Simplex With Circinate Migratory Erythema	Skin vesicle, Parakeratosis, Nail dystrophy, Palmoplantar hyperkeratosis	ORPHA:158681
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement	Cryptorchidism, Dacryocystitis, Fine hair, Low-set ears, Sparse hair, Short nose, Downslanted pal...	ORPHA:251028
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome	Elevated hepatic transaminase, Hepatomegaly, Facial hypotonia, Limb joint contracture, Small for ...	ORPHA:404454
Biotinidase Deficiency	Alopecia, Conjunctivitis, Sensorineural hearing impairment	OMIM:253260
Combined Oxidative Phosphorylation Deficiency 35	Spasticity, Failure to thrive, Generalized hypotonia, Dystonia	OMIM:617873
Punctate Palmoplantar Keratoderma Type 1	Pancreatic adenocarcinoma, Hypergranulosis, Verrucous papule, Palmoplantar hyperkeratosis, Palmop...	ORPHA:79501
Robinow Syndrome, Autosomal Dominant 3	Omphalocele, Epicanthus, Telecanthus, Sacral dimple, Cryptorchidism, Wide nasal bridge, Webbed ne...	OMIM:616894
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Conductive hearing impairment, Severe sensorineural hearing impairment, Sparse hair, Preauricular...	OMIM:620186
Primary Intestinal Lymphangiectasia	Lymphopenia, Peritoneal effusion, Decreased circulating antibody level, Weight loss, Decreased ci...	ORPHA:90362
Polymyositis	Hepatomegaly, Elevated circulating creatine kinase concentration, Abnormal muscle fiber morpholog...	ORPHA:732
Ataxia With Vitamin E Deficiency	Skeletal muscle atrophy, Diabetes mellitus, Tremor, Hypertonia, Dystonia	ORPHA:96
Dicarboxylic Aminoaciduria	Fasting hypoglycemia	OMIM:222730
Pyruvate Dehydrogenase E1-Alpha Deficiency	Flexion contracture, Small for gestational age, Hypotonia, Dystonia	ORPHA:79243
Systemic Sclerosis	Alopecia, Nail bed telangiectasia, Cutaneous sclerotic plaque, Digital pitting scar, Flexion cont...	ORPHA:90291
Beta-Thalassemia	Cholelithiasis, Pallor, Skin ulcer	ORPHA:848
Treacher Collins Syndrome 1	Sparse lower eyelashes, Lacrimal duct stenosis, Cryptorchidism, Conductive hearing impairment, Up...	OMIM:154500
Pelizaeus-Merzbacher Disease	Generalized dystonia, Writer's cramp, Tremor, Head titubation, Spastic paraplegia, Hypotonia, Cho...	OMIM:312080
Mitochondrial Complex Iii Deficiency, Nuclear Type 6	Acute hepatic failure, Elevated hepatic transaminase, Hypoglycemia, Hyperglycemia, Failure to thrive	OMIM:615453
Polyarteritis Nodosa	Erythema, Subcutaneous nodule, Skin ulcer	ORPHA:767
Deafness, Dystonia, And Cerebral Hypomyelination	Failure to thrive, Dystonia	OMIM:300475
Trichohepatoneurodevelopmental Syndrome	Curly hair, Epicanthus, Ectropion, Almond-shaped palpebral fissure, Woolly hair, Synophrys, Simpl...	OMIM:618268
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Osteopenia, Hepatomegaly, Hypoglycemia, Chronic neutropenia, Osteoporosis, Hepatocellular adenoma...	ORPHA:79259
Pyruvate Dehydrogenase E2 Deficiency	Paroxysmal dystonia, Generalized dystonia, Hypotonia, Choreoathetosis, Dystonia, Neonatal hypotonia	OMIM:245348
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome	Axial hypotonia, Head titubation, Increased circulating ferritin concentration, Vestibular arefle...	ORPHA:3240
Peeling Skin Syndrome 5	Hyperkeratosis	OMIM:617115
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities	Limb joint contracture, Rigidity, Hypotonia, Blepharospasm, Athetosis, Dystonia, Spasticity, Fail...	OMIM:617282
Autosomal Recessive Cerebellar Ataxia Due To Cwf19L1 Deficiency	Synophrys, Dystonia, Infantile muscular hypotonia, Intention tremor	ORPHA:453521
Isolated Right Ventricular Hypoplasia	Cardiomegaly, Muscular ventricular septal defect, Atrial septal defect, Patent foramen ovale, Rig...	ORPHA:439
Infantile Convulsions And Choreoathetosis	Choreoathetosis, Athetosis, Dystonia	ORPHA:31709
Ectodermal Dysplasia, Sensorineural Hearing Loss, And Distinctive Facial Features	Inguinal hernia, Entropion, Trichiasis, Sparse eyebrow, Sensorineural hearing impairment, Thin ey...	OMIM:609944
Neurodevelopmental Disorder With Involuntary Movements	Athetosis, Spasticity, Generalized hypotonia, Dystonia	OMIM:617493
Basal Ganglia Calcification, Idiopathic, 1	Tremor, Athetosis, Rigidity, Dystonia	OMIM:213600
Dystonia 13, Torsion, Autosomal Dominant	Torticollis, Writer's cramp, Tremor, Torsion dystonia, Blepharospasm, Limb dystonia, Oromandibula...	OMIM:607671
Congenital Tracheomalacia	Ventricular septal defect, Pneumonia, Cardiomegaly, Pneumothorax, Partial anomalous pulmonary ven...	ORPHA:95430
Mixed Connective Tissue Disease	Keratoconjunctivitis sicca, Alopecia, Purpura	ORPHA:809
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)	Cachexia, Ragged-red muscle fibers, Weight loss, Distal amyotrophy, Slender build	OMIM:603041
Milroy Disease	Hydrocele testis, Hyperkeratosis, Toenail dysplasia, Cellulitis	ORPHA:79452
Beta-Propeller Protein-Associated Neurodegeneration	Tremor, Dystonia, Rigidity, Spastic paraparesis	ORPHA:329284
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia	Elevated circulating creatine kinase concentration, Tremor, Distal amyotrophy, Hypoalbuminemia, D...	OMIM:208920
White-Sutton Syndrome	Facial hypotonia, Congenital diaphragmatic hernia, Hypotonia, Obesity, Hypoglycemic seizures, Gen...	OMIM:616364
Neurodevelopmental Disorder With Dystonia And Seizures	Athetosis, Spastic tetraplegia, Hypotonia, Dystonia	OMIM:619922
Mucolipidosis Iv	Hypotonia, Spastic tetraplegia, Generalized hypotonia, Dystonia	OMIM:252650
Cockayne Syndrome A	Reduced subcutaneous adipose tissue, Hip contracture, Dry hair, Hepatomegaly, Tremor, Cryptorchid...	OMIM:216400
Desmosterolosis	Increased bone mineral density, Aplasia/Hypoplasia of the skin, Rigidity, Splenomegaly, Hypertoni...	ORPHA:35107
Osteogenesis Imperfecta, Type Xviii	Umbilical hernia, Long eyelashes, Wide nasal bridge	OMIM:617952
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1	Hypopituitarism, Distichiasis, Pallor	OMIM:600462
Fryns-Smeets-Thiry Syndrome	Hypotonia, Cachexia	ORPHA:2058
Castleman Disease	Myelofibrosis, Increased circulating interleukin 6 concentration, Generalized lymphadenopathy, El...	ORPHA:160
Aicardi-Goutieres Syndrome 1	Elevated hepatic transaminase, Hepatomegaly, Axial hypotonia, Splenomegaly, Prolonged neonatal ja...	OMIM:225750
Takayasu Arteritis	Subcutaneous nodule, Skin ulcer	ORPHA:3287
Irida Syndrome	Hyperkeratosis, Intrahepatic cholestasis, Ichthyosis	ORPHA:209981
Lethal Congenital Contracture Syndrome 10	Overriding aorta, Ventricular septal defect, Cardiomegaly, Hypoplasia of the thymus, Pulmonary hy...	OMIM:617022
Leukodystrophy, Hypomyelinating, 6	Axial hypotonia, Tremor, Rigidity, Hypotonia, Choreoathetosis, Dystonia, Spasticity	OMIM:612438
Marfan Syndrome	Osteopenia, Skeletal muscle atrophy, Inguinal hernia, Cachexia, Osteoporosis, Hypotonia, Slender ...	ORPHA:558
Gm1-Gangliosidosis, Type Iii	Skeletal muscle atrophy, Dystonia	OMIM:230650
Developmental And Epileptic Encephalopathy 1	Axial hypotonia, Spastic tetraparesis, Choreoathetosis, Hypertonia, Dystonia	OMIM:308350
4H Leukodystrophy	Tremor, Decreased response to growth hormone stimulation test, Dystonia	ORPHA:289494
Neurodegeneration, Childhood-Onset, With Brain Atrophy	Rigidity, Spasticity, Decreased body weight, Dystonia	OMIM:617672
Leukocyte Adhesion Deficiency Type Ii	Palpebral edema, Scarring, Low anterior hairline, Wide nasal bridge, Skin vesicle, Microtia, Long...	ORPHA:99843
Familial Pancreatic Carcinoma	Elevated hepatic transaminase, Pancreatic adenocarcinoma, Diabetes mellitus, Jaundice, Extrahepat...	ORPHA:1333
Mgat2-Cdg	Low-set, posteriorly rotated ears, Posteriorly rotated ears, Abnormal earlobe morphology, Promine...	ORPHA:79329
Charcot-Marie-Tooth Disease, Type 4K	Skeletal muscle atrophy, Dystonia	OMIM:616684
Neurodegeneration Due To 3-Hydroxyisobutyryl-Coa Hydrolase Deficiency	Head titubation, Cryptorchidism, Hypotonia, Dystonia, Failure to thrive	ORPHA:88639
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Alopecia	OMIM:304790
Coffin-Siris Syndrome	Ptosis, Sparse scalp hair, Thick eyebrow, Hearing impairment, Cryptorchidism, Hypoplastic fifth f...	ORPHA:1465
Heterotaxy, Visceral, 1, X-Linked	Cardiomegaly, Dextrotransposition of the great arteries, Atrial septal defect, Atrioventricular c...	OMIM:306955
Continuous Spikes And Waves During Sleep	Dystonia	ORPHA:725
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3	Low anterior hairline, Thickened helices, Wide nasal bridge, Low-set ears, Nevus, Long palpebral ...	OMIM:619950
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Elevated hepatic transaminase, Hypoglycemia, Microvesicular hepatic steatosis, Jaundice, Cholesta...	OMIM:617156
Guanidinoacetate Methyltransferase Deficiency	Athetosis, Hypotonia, Dystonia	ORPHA:382
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency	Cryptorchidism, Failure to thrive, Hypoglycemia	OMIM:614736
Myotonic Dystrophy 1	Hypogonadism, Cholelithiasis, Testicular atrophy	OMIM:160900
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis	Psoriasiform dermatitis, Elevated circulating C-reactive protein concentration, Craniofacial oste...	ORPHA:324964
Atypical Rett Syndrome	Tremor, Hypotonia, Pill-rolling tremor, Abnormal muscle tone, Dystonia, Neonatal hypotonia, Spast...	ORPHA:3095
Neu-Laxova Syndrome	Abnormal nasolacrimal system morphology, Abnormal eyelid morphology, Abnormal eyelash morphology,...	ORPHA:2671
Chondrodysplasia Punctata, Autosomal Dominant	Hip contracture, Hyperkeratosis with erythema, Knee flexion contracture, Epiphyseal stippling, Co...	OMIM:118650
Woodhouse-Sakati Syndrome	Alopecia, Sensorineural hearing impairment, Protruding ear, Fine hair, Sparse hair, Decreased tes...	OMIM:241080
Mitochondrial Complex I Deficiency, Nuclear Type 26	Choreoathetosis, Distal amyotrophy, Dystonia, Limb hypertonia	OMIM:618247
Cartilage-Hair Hypoplasia	Hepatomegaly, Sacral dimple, Abnormally ossified vertebrae, Sparse eyebrow, Abnormality of the pa...	ORPHA:175
Hereditary Amyloidosis With Primary Renal Involvement	Decreased circulating apolipoprotein A-I concentration, Hepatomegaly, Primary testicular failure,...	ORPHA:85450
Spinocerebellar Ataxia 14	Facial myokymia, Focal dystonia	OMIM:605361
Xeroderma Pigmentosum-Cockayne Syndrome Complex	Spasticity, Dermal atrophy, Cachexia	ORPHA:220295
Pemphigus Vulgaris	Atypical scarring of skin, Acantholysis, Weight loss	ORPHA:704
Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration	Lower limb spasticity, Spastic paraplegia, Spastic tetraparesis, Dystonia	OMIM:612319
Developmental And Epileptic Encephalopathy 6B	Choreoathetosis, Axial hypotonia, Hypotonia, Dystonia	OMIM:619317
Ichthyosis Prematurity Syndrome	Alopecia of scalp, Generalized ichthyosis, Follicular hyperkeratosis	OMIM:608649
Absence Of The Pulmonary Artery	Recurrent respiratory infections, Cardiomegaly, Recurrent pneumonia, Bronchiectasis, Abnormal hea...	ORPHA:980
Allergic Bronchopulmonary Aspergillosis	Abnormal eosinophil morphology, Abnormal fingernail morphology, Weight loss	ORPHA:1164
Isolated Complex I Deficiency	Hepatomegaly, Diabetes mellitus, Hypoglycemia, Hypotonia, Failure to thrive, Abnormal mitochondri...	ORPHA:2609
Combined Immunodeficiency Due To Dock8 Deficiency	Skin ulcer	ORPHA:217390
Combined Oxidative Phosphorylation Deficiency 33	Hepatomegaly, Cardiomegaly, Cardiomyopathy, Left ventricular hypertrophy, Hypothyroidism	OMIM:617713
Mullegama-Klein-Martinez Syndrome	Preauricular pit, Curly eyelashes, Congenital diaphragmatic hernia, Sensorineural hearing impairm...	OMIM:301022
Dyskeratosis Congenita, X-Linked	Ridged nail, Split nail, Alopecia, Sparse eyelashes, Cryptorchidism, Pterygium of nails, Prematur...	OMIM:305000
Acute Monoblastic/Monocytic Leukemia	Acute monocytic leukemia, Cervical lymphadenopathy, Leukocytosis, Subcutaneous nodule, Weight los...	ORPHA:514
Autosomal Dominant Hypocalcemia	Alopecia, Dry skin, Abnormal fingernail morphology, Abnormality of the nail	ORPHA:428
Ichthyosis, Congenital, Autosomal Recessive 6	Parakeratosis, Hyperkeratosis, Palmoplantar keratoderma, Generalized ichthyosis, Congenital nonbu...	OMIM:612281
Ichthyosis, Congenital, Autosomal Recessive 5	Parakeratosis, Acanthocytosis, Palmoplantar keratoderma, Congenital nonbullous ichthyosiform eryt...	OMIM:604777
Developmental And Epileptic Encephalopathy 17	Athetosis, Dystonia	OMIM:615473
Blue Diaper Syndrome	Elevated hepatic transaminase, Recurrent hypoglycemia, Increased body weight, Increased proinsuli...	ORPHA:94086
Encephalopathy, Neonatal Severe, With Lactic Acidosis And Brain Abnormalities	Axial hypotonia, Hypotonia, Spastic tetraparesis, Dystonia	OMIM:617668
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type	Cryptorchidism, Flexion contracture, Protruding ear, Upslanted palpebral fissure, Patchy alopecia...	OMIM:300534
Aorta Coarctation	Bicuspid aortic valve, Cardiomegaly, Aortic valve atresia, Perimembranous ventricular septal defe...	ORPHA:1457
Neurodevelopmental Disorder With Eye Movement Abnormalities And Ataxia	Spasticity, Hypotonia, Dystonia	OMIM:620094
Calciphylaxis	Skin ulcer, Secondary hyperparathyroidism, Cellulitis	ORPHA:280062
Neurodevelopmental Disorder With Or Without Early-Onset Generalized Epilepsy	Hypotonia, Dystonia	OMIM:619157
Intellectual Developmental Disorder, Autosomal Dominant 68	Epicanthus, Posteriorly rotated ears, Joint contracture of the 5th finger, Sparse hair, Absent ea...	OMIM:619934
Neuroferritinopathy	Resting tremor, Writer's cramp, Leg dystonia, Focal dystonia, Blepharospasm, Arm dystonia, Dyston...	ORPHA:157846
Mitochondrial Complex Iv Deficiency, Nuclear Type 8	Hemidystonia, Spastic gait, Spastic tetraparesis	OMIM:619052
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency	Axial hypotonia, Tremor, Choreoathetosis, Dystonia, Spasticity	OMIM:612716
Cranioectodermal Dysplasia 2	Unilateral ptosis, Epicanthus, Telecanthus, Sparse eyelashes, Inguinal hernia, Blepharophimosis, ...	OMIM:613610
Leukoencephalopathy, Progressive, With Ovarian Failure	Spasticity, Hand tremor, Dystonia	OMIM:615889
Fructose-1,6-Bisphosphatase Deficiency	Hepatomegaly, Hypoglycemia, Hypotonia	OMIM:229700
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Decreased response to growth hormone stimulation test, Hypoplastic toenails, Synophrys, Conductiv...	ORPHA:444077
Ichthyosis, Annular Epidermolytic, 2	Palmoplantar hyperkeratosis, Palmoplantar keratoderma, Ichthyosis, Orthokeratosis, Skin erosion	OMIM:620148
Cirrhotic Cardiomyopathy	Hepatomegaly, Left atrial enlargement, Cardiomegaly, Right atrial enlargement, Left ventricular h...	ORPHA:57777
Woodhouse-Sakati Syndrome	Alopecia, Streak ovary, Decreased response to growth hormone stimulation test, Protruding ear, Bi...	ORPHA:3464
Holocarboxylase Synthetase Deficiency	Alopecia	OMIM:253270
Free Sialic Acid Storage Disease	Skin ulcer	ORPHA:834
Lichen Planus Pemphigoides	Skin vesicle, Hyperkeratosis, Abnormality of the nail	ORPHA:254478
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Acute myeloid leukemia, Hepatomegaly, Neutrophilia, Eosinophilia, Splenomegaly...	ORPHA:98849
Hawkinsinuria	Sparse hair	OMIM:140350
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech	Curly eyelashes, Flexion contracture, Wide nasal bridge, Upslanted palpebral fissure, Microtia, B...	OMIM:611717
Pituitary Apoplexy	Hypoglycemia, Decreased response to growth hormone stimulation test, Elevated circulating growth ...	ORPHA:95613
Pituitary Stalk Interruption Syndrome	Cryptorchidism, Ectopic posterior pituitary, Failure to thrive, Hypoglycemia	ORPHA:95496
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome	Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Sparse eyebrow, Hirs...	ORPHA:496641
Perlman Syndrome	Hypoglycemia, Congenital diaphragmatic hernia, Large for gestational age, Hypoplasia of the abdom...	OMIM:267000
Hemiparkinsonism-Hemiatrophy Syndrome	Tremor, Generalized hypotonia, Dystonia	ORPHA:306669
Pontocerebellar Hypoplasia Type 2	Paroxysmal dystonia, Choreoathetosis, Viral infection-induced rhabdomyolysis, Lower limb hyperton...	ORPHA:2524
Mitochondrial Complex Iv Deficiency, Nuclear Type 22	Elevated hepatic transaminase, Hypoglycemia, Elevated circulating creatine kinase concentration, ...	OMIM:619355
Infantile Neuronal Ceroid Lipofuscinosis	Tremor, Spasticity, Dystonia	ORPHA:79263
Mitochondrial Complex Iv Deficiency, Nuclear Type 5	Inguinal hernia, Small for gestational age, Hypoglycemia, Highly arched eyebrow, Increased hepato...	OMIM:220111
Amyloidosis, Hereditary, Transthyretin-Related	Cardiomyopathy, Impotence, Cardiomegaly, Pulmonary edema	OMIM:105210
Bilateral Generalized Polymicrogyria	Axial hypotonia, Oculogyric crisis, Spastic tetraplegia, Dystonia, Spasticity	ORPHA:208447
Spastic Ataxia 8, Autosomal Recessive, With Hypomyelinating Leukodystrophy	Torticollis, Head titubation, Hypotonia, Limb dystonia, Spasticity	OMIM:617560
Ring Chromosome 13 Syndrome	Epicanthus, Alopecia, Hypoplasia of the gallbladder, Posteriorly rotated ears, Wide nasal bridge,...	ORPHA:96176
Alstrom Syndrome	Progressive sensorineural hearing impairment, Alopecia, Multinodular goiter, Decreased response t...	OMIM:203800
Ichthyosis, Congenital, Autosomal Recessive 8	Orthokeratosis, Hyperkeratosis, Hypergranulosis, Ichthyosis	OMIM:613943
Congenital Disorder Of Glycosylation, Type Iib	Blepharophimosis, Sensorineural hearing impairment, Long eyelashes, Short palpebral fissure	OMIM:606056
Autosomal Recessive Spastic Paraplegia Type 26	Lower limb spasticity, Skeletal muscle atrophy, Dystonia	ORPHA:101006
Nephroblastoma	Neoplasm of the liver, Weight loss, Lymphadenopathy	ORPHA:654
Developmental And Epileptic Encephalopathy 67	Athetosis, Dystonia	OMIM:618141
Mitochondrial Complex Iv Deficiency, Nuclear Type 2	Hepatomegaly, Hypoplastic toenails, Hypotonia, Myopathy, Limb dystonia, Increased variability in ...	OMIM:604377
Autosomal Recessive Spastic Paraplegia Type 77	Paroxysmal dystonia, Lower limb spasticity, Axial hypotonia, Progressive spastic paraplegia, Bila...	ORPHA:466722
Refsum Disease, Classic	Cardiomyopathy, Cardiomegaly	OMIM:266500
Somatostatinoma	Neoplasm of the pancreas, Hepatomegaly, Diabetes mellitus, Elevated circulating growth hormone co...	ORPHA:97283
Gaucher Disease, Type Iiic	Hepatomegaly, Mitral valve calcification, Cardiomegaly, Splenomegaly, Aortic valve calcification,...	OMIM:231005
Spinocerebellar Ataxia Type 1	Skeletal muscle atrophy, Postural tremor, Abnormality of masticatory muscle, Generalized hypotoni...	ORPHA:98755
Primary Dystonia, Dyt2 Type	Torticollis, Generalized dystonia, Tremor, Torsion dystonia, Blepharospasm, Limb dystonia	ORPHA:99657
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome	Multiple cafe-au-lait spots, Skeletal muscle atrophy, Cachexia, Melanocytic nevus	ORPHA:1969
Leukodystrophy, Hypomyelinating, 15	Athetosis, Dystonia, Spasticity, Failure to thrive, Intention tremor	OMIM:617951
Psoriasis 2	Hyperkeratosis, Parakeratosis, Psoriasiform dermatitis	OMIM:602723
Hypermobile Ehlers-Danlos Syndrome	Epicanthus, Inguinal hernia, Genital hernia, Cystocele, Subcutaneous nodule, Atypical scarring of...	ORPHA:285
Drug Reaction With Eosinophilia And Systemic Symptoms	Macule, Acute hepatic failure, Elevated hepatic transaminase, Eosinophilia, Hepatitis, Weight los...	ORPHA:139402
Jacobsen Syndrome	Epicanthus, Telecanthus, Abnormal eyelash morphology, Cryptorchidism, Flexion contracture, Nasola...	OMIM:147791
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature	Distichiasis	OMIM:126320
Lymphedema-Distichiasis Syndrome	Ptosis, Conjunctivitis, Webbed neck, Distichiasis, Ectropion	ORPHA:33001
Relapsing Polychondritis	Macule, Alopecia, Chondritis of pinna, Sensorineural hearing impairment, Erythema, Conjunctivitis...	ORPHA:728
Revesz Syndrome	Nail pits, Fine hair, Nail dystrophy, Sparse hair, Ridged fingernail	OMIM:268130
Histiocytosis-Lymphadenopathy Plus Syndrome	Hepatomegaly, Atrial septal defect, Hypergonadotropic hypogonadism, Decreased response to growth ...	OMIM:602782
3-Methylglutaconic Aciduria, Type Viii	Tremor, Jaundice, Neutropenia, Hypotonia, Hypertonia, Generalized hypotonia, Dystonia, Neonatal d...	OMIM:617248
Hajdu-Cheney Syndrome	Epicanthus, Telecanthus, Thick eyebrow, Short nail, Inguinal hernia, Cryptorchidism, Synophrys, L...	OMIM:102500
Neurodevelopmental Disorder With Hypotonia, Craniofacial Abnormalities, And Seizures	Small for gestational age, Hypoglycemia, Hypotonia, Macroglossia, Umbilical hernia	OMIM:614501
Oculocutaneous Albinism Type 2	Hypopigmentation of hair, White eyelashes, White eyebrow, White hair, Hyperpigmented nevi	ORPHA:79432
Adrenocortical Carcinoma	Diabetes mellitus, Adrenocorticotropic hormone deficiency, Increased body weight, Weight loss, St...	ORPHA:1501
Marshall-Smith Syndrome	Omphalocele, Brittle hair, Highly arched eyebrow, Hearing impairment, Bilateral cryptorchidism, C...	OMIM:602535
Xeroderma Pigmentosum, Complementation Group A	Entropion, Hypermelanotic macule, Sensorineural hearing impairment, Conjunctivitis, Dermal atroph...	OMIM:278700
Noonan Syndrome 10	Curly hair, Sparse eyebrow, Cryptorchidism, Hyperkeratosis, Webbed neck, Left ventricular hypertr...	OMIM:616564
Dopamine Beta-Hydroxylase Deficiency	Hypoglycemia, Insulin resistance, Hyperinsulinemia, Hypotonia, Anemia	ORPHA:230
Deeah Syndrome	Decreased hemoglobin concentration, Hepatomegaly, Decreased response to growth hormone stimulatio...	OMIM:619004
Ifap Syndrome 1, With Or Without Bresheck Syndrome	Omphalocele, Absent eyebrow, Alopecia, Sparse scalp hair, Subungual hyperkeratosis, Inguinal hern...	OMIM:308205
Klatskin Tumor	Hepatomegaly, Cholangiocarcinoma, Jaundice, Extrahepatic cholestasis, Weight loss, Lymphadenopathy	ORPHA:99978
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Hemolytic anemia, Reticulocytosis, Axial hypotonia, Failure to thrive, Hepatomegaly, Anisocytosis...	OMIM:618278
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities	Cryptorchidism, Spasticity, Dystonia	OMIM:618917
Fusariosis	Fasciitis, Paronychia, Subcutaneous nodule, Skin ulcer, Panniculitis, Cellulitis, Skin detachment...	ORPHA:228119
Koolen-De Vries Syndrome Due To A Point Mutation	Alopecia, Epicanthus, Numerous nevi, Decreased response to growth hormone stimulation test, Testi...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Alopecia, Epicanthus, Numerous nevi, Decreased response to growth hormone stimulation test, Testi...	ORPHA:363958
Biotinidase Deficiency	Alopecia, Sensorineural hearing impairment, Conjunctivitis, Hearing impairment	ORPHA:79241
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency	Adrenal hyperplasia, Hypoglycemia, Jaundice, Macroorchidism, Failure to thrive	ORPHA:90790
Generalized Pseudohypoaldosteronism Type 1	Failure to thrive in infancy, Recurrent tonsillitis, Weight loss, Increased circulating renin lev...	ORPHA:171876
Spinocerebellar Ataxia Type 3	Skeletal muscle atrophy, Dystonia	ORPHA:98757
Pyruvate Carboxylase Deficiency	Hepatomegaly, Hypoglycemia, Tremor, Hypotonia, Generalized hypotonia, Dystonia, Hyperglycemia, Fa...	ORPHA:3008
Spinocerebellar Ataxia Type 11	Dystonia	ORPHA:98767
Combined Oxidative Phosphorylation Deficiency 27	Severe muscular hypotonia, Microvesicular hepatic steatosis, Hypotonia, Opisthotonus, Dystonia, F...	OMIM:616672
Mohr-Tranebjaerg Syndrome	Generalized dystonia, Tremor, Focal dystonia, Agammaglobulinemia, Dystonia, Oromandibular dystonia	ORPHA:52368
Glycerol Kinase Deficiency	Small for gestational age, Hypoglycemia, Chronic pancreatitis, Cryptorchidism, Osteoporosis, Myop...	OMIM:307030
Erythrokeratodermia Variabilis Et Progressiva 6	Erythematous plaque, Parakeratosis	OMIM:618531
Lymphedema-Distichiasis Syndrome	Ptosis, Yellow nails, Webbed neck, Conjunctivitis, Cellulitis, Distichiasis, Ectropion	OMIM:153400
Combined Oxidative Phosphorylation Deficiency 39	Flexion contracture, Spasticity, Congenital contracture, Dystonia, Type I diabetes mellitus, Arth...	OMIM:618397
Vipoma	Neoplasm of the pancreas, Hepatomegaly, Diabetes mellitus, Elevated circulating growth hormone co...	ORPHA:97282
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder	Spasticity, Dystonia, Infantile muscular hypotonia, Limb hypertonia	ORPHA:500180
Peeling Skin With Leukonychia, Acral Punctate Keratoses, Cheilitis, And Knuckle Pads	Acantholysis, Punctate palmoplantar hyperkeratosis, Leukonychia, Hyperkeratosis, Onycholysis, Fol...	OMIM:616295
Immunodeficiency 31C	Impaired lymphocyte transformation with phytohemagglutinin, Skeletal muscle atrophy, Autoimmune h...	OMIM:614162
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3	Sparse scalp hair, Absence of Stensen duct, Decreased response to growth hormone stimulation test...	OMIM:604292
Carnitine Palmitoyltransferase Ii Deficiency	Hepatomegaly, Elevated circulating creatine kinase concentration, Rhabdomyolysis, Hepatic calcifi...	ORPHA:157
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency	Choreoathetosis, Progressive spastic quadriplegia, Dystonia, Neonatal hypotonia, Failure to thriv...	ORPHA:431361
Niemann-Pick Disease, Type C2	Hepatomegaly, Bone-marrow foam cells, Splenomegaly, Jaundice, Hypotonia, Prolonged neonatal jaund...	OMIM:607625
Thymic Carcinoma	Neoplasm of the thymus, Mediastinal lymphadenopathy, Weight loss	ORPHA:99868
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency	Head titubation, Failure to thrive, Hypotonia, Dystonia	OMIM:250620
Eosinophilic Gastroenteritis	Eosinophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, Weight loss, H...	ORPHA:2070
Mosaic Trisomy 9	Camptodactyly of finger, Asplenia, Cryptorchidism, Abnormal liver lobulation, Small nail, Webbed ...	ORPHA:99776
Bullous Pemphigoid	Macule, Diabetes mellitus, Psoriasiform dermatitis, Weight loss	ORPHA:703
Renpenning Syndrome 1	Epicanthus, Brittle hair, Telecanthus, Hearing impairment, Cupped ear, Wide nasal bridge, Protrud...	OMIM:309500
Cerebrooculonasal Syndrome	Epicanthus, Sparse eyelashes, Posteriorly rotated ears, Sparse eyebrow, Low-set ears, Conductive ...	OMIM:605627
Intellectual Developmental Disorder, Autosomal Dominant 56	Lower limb spasticity, Hypotonia, Dystonia, Spasticity, Hypomimic face	OMIM:617854
Plaa-Associated Neurodevelopmental Disorder	Exaggerated startle response, Rigidity, Hypotonia, Progressive spastic quadriplegia, Contractures...	ORPHA:521426
Adult-Onset Cervical Dystonia, Dyt23 Type	Axial dystonia, Torticollis, Writer's cramp, Neck muscle hypertrophy, Limb tremor, Focal dystonia...	ORPHA:420492
Huntington Disease	Rigidity, Weight loss, Decreased body mass index, Dystonia	ORPHA:399
Acquired Purpura Fulminans	Macule, Erythematous macule, Pyoderma gangrenosum, Macular purpura	ORPHA:49566
Intellectual Developmental Disorder, Autosomal Dominant 45	Slender build, Hypotonia, Neonatal hypoglycemia	OMIM:617600
Aarskog-Scott Syndrome	Elevated circulating luteinizing hormone level, Bilateral cryptorchidism, Cryptorchidism, Elevate...	OMIM:305400
Lynch Syndrome	Neoplasm of the pancreas, Pancreatic adenocarcinoma, Pituitary adenoma, Flexion contracture, Hypo...	ORPHA:144
Cranioectodermal Dysplasia 1	Epicanthus, Telecanthus, Slow-growing hair, Short nail, Thin nail, Inguinal hernia, Wide nasal br...	OMIM:218330
Pachyonychia Congenita 1	Follicular hyperkeratosis, Nail dystrophy, Onychogryposis, Palmoplantar hyperkeratosis	OMIM:167200
Pituitary Hormone Deficiency, Combined, 2	Neonatal hypoglycemia, Hypoglycemic seizures, Panhypopituitarism, Reduced circulating prolactin c...	OMIM:262600
Omenn Syndrome	Alopecia, Hypoplasia of the thymus	OMIM:603554
Leukodystrophy, Hypomyelinating, 25	Hypotonia, Dystonia	OMIM:620243
Omphalocele Syndrome, Shprintzen-Goldberg Type	Omphalocele, Telecanthus, Abnormal eyelash morphology, Webbed neck, Downslanted palpebral fissure...	ORPHA:3164
Kindler Epidermolysis Bullosa	Aplasia/Hypoplasia of the skin, Camptodactyly of finger, Abnormal dental enamel morphology, Flexi...	ORPHA:2908
Spinocerebellar Ataxia 17	Rigidity, Dystonia, Intention tremor	OMIM:607136
Bare Lymphocyte Syndrome, Type I	Skin ulcer	OMIM:604571
Huntington Disease-Like 3	Spasticity, Flexion contracture, Dystonia	OMIM:604802
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type)	Axial hypotonia, Facial palsy, Rigidity, Truncal titubation, Opisthotonus, Cogwheel rigidity, Hyp...	OMIM:607483
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome	Limb dystonia, Highly arched eyebrow, Thrombocytopenia, Sacral hypertrichosis, Infantile muscular...	ORPHA:457351
Progressive Supranuclear Palsy-Corticobasal Syndrome	Tremor, Rigidity, Progressive extrapyramidal muscular rigidity, Focal dystonia	ORPHA:240103
Huntington Disease-Like 3	Spasticity, Extrapyramidal muscular rigidity, Flexion contracture, Dystonia	ORPHA:157946
Dystonia 9	Choreoathetosis, Spastic paraplegia, Dystonia	OMIM:601042
Complete Atrioventricular Septal Defect	Hepatomegaly, Cardiomegaly, Complete atrioventricular canal defect, Recurrent pneumonia, Primum a...	ORPHA:1329
Idiopathic Chronic Eosinophilic Pneumonia	Elevated circulating C-reactive protein concentration, Leukocytosis, Increased circulating IgE le...	ORPHA:2902
Zollinger-Ellison Syndrome	Hyperparathyroidism, Pituitary null cell adenoma, Elevated circulating growth hormone concentrati...	ORPHA:913
Japanese Encephalitis	Skeletal muscle atrophy, Neutrophilia, Facial palsy, Tremor, Elbow flexion contracture, Cogwheel ...	ORPHA:79139
Focal Myositis	Myositis, Elevated circulating creatine kinase concentration, Weight loss	ORPHA:48918
Dystonia 34, Myoclonic	Torticollis, Writer's cramp, Hand tremor, Head tremor, Dystonia	OMIM:619724
Chilton-Okur-Chung Neurodevelopmental Syndrome	Hooded eyelid, Anterior pituitary hypoplasia, Uplifted earlobe, Synophrys, Low anterior hairline,...	OMIM:619841
Testicular Agenesis	Abnormal vas deferens morphology, Urethrovaginal fistula, Absent external genitalia, Increased ci...	ORPHA:325124
Graves Disease, Susceptibility To, 1	Weight loss, Onycholysis, Goiter	OMIM:275000
Coffin-Siris Syndrome 4	Sparse scalp hair, Ptosis, Hearing impairment, Wide nasal bridge, Long eyelashes, Thick eyebrow, ...	OMIM:614609
Pediatric Systemic Lupus Erythematosus	Alopecia	ORPHA:93552
Palmoplantar Carcinoma, Multiple Self-Healing	Parakeratosis, Palmoplantar keratoderma, Nail dystrophy, Follicular hyperkeratosis	OMIM:615225
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset	Hepatomegaly, Cardiomegaly, Respiratory tract infection, Left ventricular hypertrophy, Hypertroph...	ORPHA:308552
Reynolds Syndrome	Keratoconjunctivitis sicca, Skin ulcer	ORPHA:779
Pantothenate Kinase-Associated Neurodegeneration	Toe extensor amyotrophy, Osteopenia, Dystonia, Acanthocytosis, Rigidity, Leg dystonia, Choreoathe...	ORPHA:157850
Isolated Atp Synthase Deficiency	Hepatomegaly, Spastic paraplegia, Hypotonia, Dystonia	ORPHA:254913
Phakomatosis Pigmentokeratotica	Cryptorchidism, Melanocytic nevus, Linear nevus sebaceous, Patchy alopecia, Pheochromocytoma, Blu...	ORPHA:2874
Developmental And Epileptic Encephalopathy 89	Omphalocele, Axial hypotonia, Highly arched eyebrow, Sparse eyebrow, Flexion contracture, Hyperto...	OMIM:619124
Folinic Acid-Responsive Seizures	Hypertonia, Spastic tetraparesis, Dystonia	ORPHA:79097
Mitochondrial Complex Iii Deficiency, Nuclear Type 2	Resting tremor, Skeletal muscle atrophy, Tremor, Dystonia, Spastic paraparesis	OMIM:615157
Ichthyosis, Congenital, Autosomal Recessive 9	Orthokeratosis, Hyperkeratosis, Congenital nonbullous ichthyosiform erythroderma, Hypergranulosis	OMIM:615023
Cornelia De Lange Syndrome 1	Inguinal hernia, Curly eyelashes, Highly arched eyebrow, Abnormal incisura morphology, Cryptorchi...	OMIM:122470
Ichthyosis, Congenital, Autosomal Recessive 3	Hyperkeratosis, Palmoplantar keratoderma, Congenital nonbullous ichthyosiform erythroderma, Ichth...	OMIM:606545
Nabais Sa-De Vries Syndrome, Type 2	Neonatal hypotonia, Failure to thrive in infancy, Sparse eyebrow, Dystonia	OMIM:618829
Arterial Calcification, Generalized, Of Infancy, 2	Right atrial enlargement, Cardiomegaly	OMIM:614473
Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, And Sensorineural Hearing Loss	Episodic generalized hypotonia, Arm dystonia, Hypotonia, Dystonia	OMIM:601338
Coffin-Siris Syndrome 12	Synophrys, Low anterior hairline, Protruding ear, Simple ear, Highly arched eyebrow, Cryptorchidi...	OMIM:619325
Tropical Endomyocardial Fibrosis	Hepatomegaly, Increased circulating interleukin 6 concentration, Eosinophilia, Cachexia, Splenome...	ORPHA:75565
Paroxysmal Dystonic Choreathetosis With Episodic Ataxia And Spasticity	Choreoathetosis, Spastic paraplegia, Dystonia	ORPHA:53583
Immunodeficiency 7	Patchy alopecia	OMIM:615387
Familial Colorectal Cancer Type X	Neoplasm of the pancreas, Pancreatic adenocarcinoma, Pituitary adenoma, Flexion contracture, Hypo...	ORPHA:440437
Glutaryl-Coa Dehydrogenase Deficiency	Dystonia, Severe muscular hypotonia, Tremor, Rigidity, Athetosis, Fasting hypoglycemia, Limb dyst...	ORPHA:25
Kabuki Syndrome 1	Preauricular pit, Posteriorly rotated ears, Highly arched eyebrow, Hearing impairment, Sparse eye...	OMIM:147920
Hypoadrenocorticism, Familial	Hypoglycemia	OMIM:240200
Harlequin Ichthyosis	Hyperkeratosis, Congenital ichthyosiform erythroderma, Ichthyosis	ORPHA:457
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures	Epicanthus, Sacral dimple, Redundant neck skin, Short nose, Pseudohypoparathyroidism, Wide nasal ...	OMIM:617157
Normosmic Congenital Hypogonadotropic Hypogonadism	Decreased testicular size, Eunuchoid habitus, Osteopenia, Cryptorchidism, Osteoporosis, Breast hy...	ORPHA:432
Liver Disease, Severe Congenital	Dry hair, Biliary hyperplasia, Leukopenia, Lymphocytosis, Elevated hepatic iron concentration, Pa...	OMIM:619991
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome	Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Erythema, Fine hair, Onycholysis, Nail dystr...	OMIM:614748
Sickle Cell Disease	Hepatomegaly, Cardiomegaly, Splenomegaly, Cholelithiasis, Priapism	OMIM:603903
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7	Decreased muscle mass, Small for gestational age, Shoulder dimple, Decreased response to growth h...	ORPHA:96182
Congenital Isolated Acth Deficiency	Neonatal hypoglycemia, Hepatitis, Hypoglycemic seizures, Prolonged neonatal jaundice	ORPHA:199296
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Hepatomegaly, Inguinal hernia, Severe B lymphocytopenia, Failure to thrive, Parakeratosis, Biliar...	ORPHA:83617
Filippi Syndrome	Supernumerary nipple, Cryptorchidism, Hypotonia, Aplastic/hypoplastic toenail, Small nail, Limb d...	ORPHA:3255
Infantile Neuroaxonal Dystrophy	Axial hypotonia, Spastic tetraparesis, Flexion contracture, Progressive spasticity, Dystonia, Spa...	ORPHA:35069
Grfoma	Neoplasm of the pancreas, Hepatomegaly, Elevated circulating growth hormone concentration, Neopla...	ORPHA:97261
Cerebellar Atrophy, Visual Impairment, And Psychomotor Retardation	Axial hypotonia, Low anterior hairline, Generalized hypotonia, Dystonia, Limb hypertonia	OMIM:616875
Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement	Torticollis, Upper limb postural tremor, Hand tremor, Blepharospasm, Limb dystonia, Oromandibular...	ORPHA:420485
Pituitary Hormone Deficiency, Combined, 6	Ectopic posterior pituitary, Posterior pituitary hypoplasia, Hypoglycemia, Neonatal hypoglycemia	OMIM:613986
Microphthalmia With Linear Skin Defects Syndrome	Sacral dimple, Aplasia/Hypoplasia of the skin, Abnormal nasolacrimal system morphology, Abnormal ...	ORPHA:2556
Sandhoff Disease	Hepatosplenomegaly, Hepatomegaly, Impotence, Cardiomegaly	OMIM:268800
Isolated Permanent Neonatal Diabetes Mellitus	Failure to thrive, Neonatal insulin-dependent diabetes mellitus, Hypotonia, Weight loss, Lower-li...	ORPHA:99885
Ppoma	Neoplasm of the pancreas, Hepatomegaly, Elevated circulating growth hormone concentration, Intrah...	ORPHA:97278
Thymoma	Myositis, Aplastic anemia, Pure red cell aplasia, Imbalanced hemoglobin synthesis, Decreased circ...	ORPHA:99867
Proximal 16P11.2 Microdeletion Syndrome	Congenital diaphragmatic hernia, Craniosynostosis, Obesity, Choreoathetosis, Dystonia, Failure to...	ORPHA:261197
Lymphoid Interstitial Pneumonia	Hepatomegaly, Mediastinal lymphadenopathy, Weight loss, Abnormality of connective tissue, Failure...	ORPHA:79128
Xeroderma Pigmentosum Variant	Dry skin, Dermal atrophy	ORPHA:90342
Osteootohepatoenteric Syndrome	Microvesicular hepatic steatosis, Cholestasis, Weight loss, Reduced bone mineral density, Portal ...	OMIM:619377
Kaya-Barakat-Masson Syndrome	Axial hypotonia, Spastic tetraplegia, Generalized hypotonia, Limb dystonia, Spasticity	OMIM:619125
Mitochondrial Complex Ii Deficiency, Nuclear Type 3	Hepatomegaly, Hypotonia, Left ventricular noncompaction, Neonatal death, Dystonia, Left ventricul...	OMIM:619167
Partington Syndrome	Macroorchidism, Lower limb spasticity, Limb dystonia	ORPHA:94083
Chronic Beryllium Disease	Mediastinal lymphadenopathy, Abnormal proportion of CD4-positive T cells, Weight loss	ORPHA:133
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency	Alopecia, Testicular adrenal rest tumor, Hirsutism, Polycystic ovaries	ORPHA:90795
Hemihyperplasia-Multiple Lipomatosis Syndrome	Lipoatrophy, Abnormality of the lymphatic system, Hyperparakeratosis, Hydrocele testis, Multiple ...	ORPHA:276280
Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter	Spasticity, Facial hypotonia, Hypotonia, Dystonia	OMIM:617807
Developmental And Epileptic Encephalopathy 49	Macrotia, Long eyelashes, Thick eyebrow	OMIM:617281
Non-Acquired Panhypopituitarism	Osteopenia, Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypoglycemia, Anterior...	ORPHA:90695
Mitochondrial Complex Iii Deficiency, Nuclear Type 10	Cholelithiasis, Alopecia totalis	OMIM:618775
Isolated Congenital Alacrima	Lacrimal gland hypoplasia, Conjunctivitis, Lacrimal punctal atresia, Distichiasis, Ptosis	ORPHA:91416
Ectodermal Dysplasia And Immunodeficiency 1	Sparse hair, Aplasia of the eccrine sweat glands	OMIM:300291
Glucagonoma	Neoplasm of the pancreas, Hepatomegaly, Diabetes mellitus, Elevated circulating growth hormone co...	ORPHA:97280
Glycogen Storage Disease Of Heart, Lethal Congenital	Cardiomegaly, Pericardial effusion, Increased myocardial glycogen content, Biventricular hypertro...	OMIM:261740
Developmental And Epileptic Encephalopathy 84	Axial hypotonia, Synophrys, Opisthotonus, Generalized hypotonia, Dystonia, Spasticity	OMIM:618792
Erythrokeratodermia Variabilis Et Progressiva 1	Generalized hyperkeratosis, Patchy palmoplantar hyperkeratosis, Hypergranulosis	OMIM:133200
7Q11.23 Microduplication Syndrome	Low-set, posteriorly rotated ears, Inguinal hernia, Sacral dimple, Congenital diaphragmatic herni...	ORPHA:96121
Neuroocular Syndrome	Sacral dimple, Brittle hair, Highly arched eyebrow, Lagophthalmos, Unilateral deafness, Synophrys...	OMIM:619539
Kufor-Rakeb Syndrome	Torticollis, Tremor, Rigidity, Spastic paraplegia, Leg muscle stiffness, Hypertonia, Dystonia, Sp...	OMIM:606693
Adult Polyglucosan Body Disease	Skin ulcer	ORPHA:206583
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2	Osteopenia, Skeletal muscle atrophy, Inguinal hernia, Hypotonia, Myopathy, Atrophic scars, Type 1...	OMIM:614557
Thyrotoxic Periodic Paralysis, Susceptibility To, 1	Weight loss, Rhabdomyolysis, Goiter	OMIM:188580
Beck-Fahrner Syndrome	Ventricular septal defect, Cardiomegaly	OMIM:618798
Loeys-Dietz Syndrome	Camptodactyly of finger, Craniosynostosis, Atypical scarring of skin, Thin skin, Striae distensae	ORPHA:60030
Dyskeratosis Congenita, Autosomal Recessive 2	Testicular atrophy	OMIM:613987
Sympathetic Ophthalmia	Alopecia, Poliosis, Erythema, Tinnitus, Hearing impairment	ORPHA:79098
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Epicanthus, Telecanthus, Thick hair, Flexion contracture, Long eyelashes, Conjunctivitis, Hernia,...	ORPHA:505248
Paternal Uniparental Disomy Of Chromosome 6	Hepatomegaly, Neonatal insulin-dependent diabetes mellitus, Ventricular septal defect, Cardiomega...	ORPHA:96191
Polycythemia Vera	Myelofibrosis, Hepatomegaly, Portal hypertension, Portal vein thrombosis, Splenomegaly, Weight lo...	ORPHA:729
Trichorhinophalangeal Syndrome, Type Ii	Sparse scalp hair, Inguinal hernia, Hearing impairment, Bilateral cryptorchidism, Redundant skin ...	OMIM:150230
Citrullinemia, Type Ii, Adult-Onset	Portal inflammation, Elevated circulating alanine aminotransferase concentration, Ballooning hepa...	OMIM:603471
Ogden Syndrome	Redundant neck skin, Redundant skin, Abnormal eyelid morphology, Protruding ear, Sparse eyebrow, ...	OMIM:300855
Familial Glucocorticoid Deficiency	Ketotic hypoglycemia, Cryptorchidism, Testicular adrenal rest tumor, Hypoglycemic seizures, Weigh...	ORPHA:361
Orthostatic Hypotension 1	Weakness of facial musculature, Neonatal hypoglycemia, Hypotonia, Reduced circulating prolactin c...	OMIM:223360
Familial Benign Chronic Pemphigus	Skin vesicle, Skin erosion, Hyperkeratosis, Acantholysis	ORPHA:2841
Amyotrophic Dystonic Paraplegia	Skeletal muscle atrophy, Spastic paraplegia, Dystonia	OMIM:105300
Autoimmune Polyendocrine Syndrome, Type Ii	Alopecia, Keratoconjunctivitis	OMIM:269200
Wrinkly Skin Syndrome	Epicanthus, Inguinal hernia, Short nail, Redundant skin, Cryptorchidism, Neonatal wrinkled skin o...	OMIM:278250
Spinocerebellar Ataxia Type 17	Torticollis, Writer's cramp, Rigidity, Blepharospasm, Dystonia, Spasticity	ORPHA:98759
Papa Syndrome	Skin ulcer	ORPHA:69126
Intellectual Developmental Disorder, Fra12A Type	Hyperkeratosis	OMIM:136630
Al Amyloidosis	Hepatomegaly, Increased circulating NT-proBNP concentration, Howell-Jolly bodies, Weight loss, Ma...	ORPHA:85443
Cryptogenic Organizing Pneumonia	Leukocytosis, Neutrophilia, Elevated circulating C-reactive protein concentration, Weight loss	ORPHA:1302
Q Fever	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Hepatitis, Lymphadenopathy, Anemia, He...	ORPHA:781
Igg4-Related Aortitis	Increased circulating IgG4 level, Elevated circulating C-reactive protein concentration, Increase...	ORPHA:449400
Khan-Khan-Katsanis Syndrome	Sacral dimple, Trichiasis, Highly arched eyebrow, Epiblepharon, Sensorineural hearing impairment,...	OMIM:618460
Oculocutaneous Albinism Type 1A	Hyperkeratosis, Thickened skin, Hypopigmentation of hair, Albinism	ORPHA:79431
Primary Dystonia, Dyt4 Type	Eunuchoid habitus, Torticollis, Generalized dystonia, Upper limb postural tremor, Blepharospasm, ...	ORPHA:98805
Arthrogryposis Multiplex Congenita 5	Normocytic anemia, Inguinal hernia, Acanthocytosis, Flexion contracture, Elbow flexion contractur...	OMIM:618947
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Cardiomegaly	OMIM:613320
Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease	Follicular hyperkeratosis	OMIM:613736
Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia	Axial hypotonia, Advanced ossification of carpal bones, Limb dystonia	OMIM:620269
Craniolenticulosutural Dysplasia	Sparse hair, Coarse hair, Brittle hair	ORPHA:50814
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18	Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ...	OMIM:615356
Kabuki Syndrome	Ptosis, Highly arched eyebrow, Congenital diaphragmatic hernia, Lip pit, Cryptorchidism, Sensorin...	ORPHA:2322
Craniofaciofrontodigital Syndrome	Bicuspid aortic valve, Ventricular septal defect, Abnormal heart valve morphology, Cardiomegaly, ...	ORPHA:363705
Brucellosis	Hepatomegaly, Failure to thrive, Liver abscess, Small for gestational age, Elevated circulating C...	ORPHA:1304
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism	Tremor, Spasticity, Postural tremor, Dystonia	OMIM:607694
Methionine Adenosyltransferase I/Iii Deficiency	Dystonia	OMIM:250850
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Alopecia, Hypoplasia of eyelid, Flexion contracture, Hypoplasia of the ovary, Short nose, Decreas...	OMIM:619321
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency	Oculogyric crisis, Rigidity, Hypotonia, Opisthotonus, Choreoathetosis, Hypertonia, Dystonia	ORPHA:13
Ctcf-Related Neurodevelopmental Disorder	Low-set, posteriorly rotated ears, Epicanthus, Inguinal hernia, Sacral dimple, Highly arched eyeb...	ORPHA:363611
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly	Small for gestational age, Cryptorchidism, Hypotonia, Spastic tetraplegia, Opisthotonus, Hyperton...	OMIM:619847
Familial Aortic Dissection	Cardiomegaly	ORPHA:229
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Hypoglycemia, Megaloblastic anemia, Jaundice, Hypotonia, Neutropenia, Failure to thrive, Thromboc...	ORPHA:79282
Craniolenticulosutural Dysplasia	Brittle hair, Cryptorchidism, Wide nasal bridge, Coarse hair, Sparse hair	OMIM:607812
Glycogen Storage Disease Ic	Hepatomegaly, Hypoglycemia, Cyclic neutropenia, Chronic pancreatitis, Xanthelasma, Xanthomatosis,...	OMIM:232240
Tremor-Ataxia-Central Hypomyelination Syndrome	Postural tremor, Spastic dysarthria, Dystonia, Spasticity, Intention tremor	ORPHA:447896
Rars-Related Autosomal Recessive Hypomyelinating Leukodystrophy	Lower limb spasticity, Lower limb hypertonia, Dystonia, Infantile axial hypotonia, Intention tremor	ORPHA:438114
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia	Athetosis, Dystonia	OMIM:300857
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Hepatomegaly, Elevated circulating creatine kinase concentration, Hepatic calcification, Generali...	ORPHA:228308
Slc39A8-Cdg	Osteopenia, Severe muscular hypotonia, Failure to thrive in infancy, Craniosynostosis, Elbow flex...	ORPHA:468699
Stickler Syndrome	Skeletal muscle atrophy, Abnormal dental enamel morphology, Cachexia, Hypotonia, Reduced bone min...	ORPHA:828
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Hip contracture, Sparse scalp hair, Sparse eyelashes, Shoulder flexion contracture, Sparse eyebro...	OMIM:210710
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Decreased response to growth hormone stimulation test, Synophrys, Flexion contracture, Knee flexi...	OMIM:619503
Halperin-Birk Syndrome	Inguinal hernia, Congenital diaphragmatic hernia, Flexion contracture, Long eyelashes, Umbilical ...	OMIM:618651
Pulmonary Non-Tuberculous Mycobacterial Infection	Weight loss, Lymphadenopathy	ORPHA:411703
Monosomy 22Q13.3	Epicanthus, Sacral dimple, Palpebral edema, Hearing impairment, Hypoplastic toenails, Wide nasal ...	ORPHA:48652
Porokeratosis 7, Multiple Types	Parakeratosis, Porokeratosis	OMIM:614714
Porokeratosis 1, Multiple Types	Parakeratosis, Porokeratosis	OMIM:175800
Dystonia 26, Myoclonic	Blepharospasm, Torticollis, Laryngeal dystonia, Dystonia	OMIM:616398
Acrocardiofacial Syndrome	Camptodactyly of finger, Cryptorchidism, Wide nasal bridge, Long eyelashes, Low-set ears	ORPHA:2008
Subacute Cutaneous Lupus Erythematosus	Hyperkeratosis, Annular cutaneous lesion, Dermal atrophy	ORPHA:163525
Degcags Syndrome	Synophrys, Low anterior hairline, Premature graying of hair, Pallor, Hiatus hernia, Abnormal eyel...	OMIM:619488
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease	Absent brainstem auditory responses, White eyelashes, White eyebrow, Cryptorchidism, Sensorineura...	OMIM:609136
Frontofacionasal Dysplasia	Frontal cutaneous lipoma, Telecanthus, Ankyloblepharon, Eyelid coloboma, S-shaped palpebral fissu...	OMIM:229400
Pontocerebellar Hypoplasia, Type 17	Paroxysmal dystonia, Axial hypotonia, Low anterior hairline, Spastic tetraplegia, Limb hypertonia	OMIM:619909
Livedoid Vasculopathy	Skin ulcer, Atrophic scars, Macular purpura, Ecchymosis, Erythematous papule	ORPHA:542643
Danon Disease	Myocardial necrosis, Cardiomegaly, Dilated cardiomyopathy, Myocardial fibrosis, Hypertrophic card...	OMIM:300257
Gabriele-De Vries Syndrome	Facial hypotonia, Tremor, Sparse eyebrow, Cryptorchidism, Hypotonia, Distal arthrogryposis, Front...	OMIM:617557
Neuropathy, Hereditary Sensory And Autonomic, Type Ic	Skin ulcer	OMIM:613640
Marburg Hemorrhagic Fever	Elevated hepatic transaminase, Reticulocytosis, Lymphopenia, Hypoglycemia, Elevated circulating c...	ORPHA:99826
Imerslund-Gräsbeck Syndrome	Reticulocytosis, Macrocytic anemia, Pancytopenia, Megaloblastic anemia, Hypotonia, Anisopoikilocy...	ORPHA:35858
Glucocorticoid Deficiency 1	Recurrent hypoglycemia, Failure to thrive	OMIM:202200
Galloway-Mowat Syndrome 1	Axial hypotonia, Small for gestational age, Hiatus hernia, Hypotonia, Spastic tetraplegia, Hypoal...	OMIM:251300
Leukoencephalopathy With Calcifications And Cysts	Tremor, Spasticity, Dystonia	ORPHA:542310
Multiple Myeloma	Osteopenia, Increased circulating IgA level, Splenomegaly, Lymphadenopathy, Decreased circulating...	ORPHA:29073
Lymphatic Filariasis	Orchitis, Lymphadenitis, Abnormality of the lymphatic system, Hypereosinophilia, Vaginal hydrocel...	ORPHA:2035
Simple Cryoglobulinemia	Viral hepatitis, Monoclonal elevation of circulating IgA, Localized skin lesion, Paraproteinemia,...	ORPHA:91139
Autosomal Recessive Spastic Paraplegia Type 78	Skeletal muscle atrophy, Dystonia, Progressive spastic quadriplegia, Facial myokymia, Progressive...	ORPHA:513436
Hypoprebetalipoproteinemia, Acanthocytosis, Retinitis Pigmentosa, And Pallidal Degeneration	Acanthocytosis, Spasticity, Dystonia	OMIM:607236
Neurodegeneration With Brain Iron Accumulation 4	Scapular winging, Generalized dystonia, Elevated circulating creatine kinase concentration, Tremo...	OMIM:614298
Dominant Beta-Thalassemia	Hypoparathyroidism, Skin ulcer, Upslanted palpebral fissure, Pallor, Hypopituitarism	ORPHA:231226
Rett Syndrome	Skeletal muscle atrophy, Cholecystitis, Dystonia, Failure to thrive, Infantile muscular hypotonia	ORPHA:778
Choreoacanthocytosis	Resting tremor, Muscle fiber atrophy, Hepatomegaly, Elevated circulating creatine kinase concentr...	ORPHA:2388
Generalized Glucocorticoid Resistance Syndrome	Frontal balding, Adrenal hyperplasia, Hypoglycemia, Hirsutism	ORPHA:786
Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive	Dystonia	OMIM:618317
Atypical Juvenile Parkinsonism	Resting tremor, Dystonia, Rigidity, Leg muscle stiffness, Hypomimic face	ORPHA:391411
Beckwith-Wiedemann Syndrome	Hepatomegaly, Adrenocortical cytomegaly, Overgrowth of external genitalia, Cardiomegaly, Cryptorc...	OMIM:130650
Ectodermal Dysplasia-Skin Fragility Syndrome	Scarring, Scaling skin, Nail dystrophy, Sparse hair, Alopecia universalis	ORPHA:158668
Thyrotoxic Periodic Paralysis, Susceptibility To, 2	Tremor, Weight loss, Goiter	OMIM:613239
Combined Oxidative Phosphorylation Deficiency 57	Neonatal death, Small for gestational age, Hypotonia, Dystonia	OMIM:620167
Pontocerebellar Hypoplasia, Type 2B	Axial hypotonia, Hypotonia, Opisthotonus, Dystonia, Spasticity, Limb hypertonia	OMIM:612389
Infantile Systemic Hyalinosis	Subcutaneous nodule, Camptodactyly of finger, Skin ulcer, Polycystic ovaries	ORPHA:2176
Neuroendocrine Tumor Of The Colon	Elevated hepatic transaminase, Hepatomegaly, Chronic noninfectious lymphadenopathy, Weight loss	ORPHA:100080
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome	Broad eyebrow, Sparse eyebrow, Cryptorchidism, Synophrys, Low anterior hairline, Keratoconjunctiv...	ORPHA:495875
Tyrosinemia Type 2	Tremor, Hyperkeratosis, Palmoplantar keratoderma, Abnormality of the nail	ORPHA:28378
Oculoectodermal Syndrome	Epicanthus, Epidermal nevus, Supernumerary nipple, Preauricular skin tag, Wide nasal bridge, Pine...	OMIM:600268
Ataxia-Telangiectasia-Like Disorder 1	Lower limb spasticity, Hypotonia, Choreoathetosis, Distal amyotrophy, Dystonia	OMIM:604391
Chronic Graft Versus Host Disease	Alopecia, Fasciitis, Flexion contracture, Erythema, Intermittent generalized erythematous papular...	ORPHA:99921
Autosomal Dominant Dopa-Responsive Dystonia	Torticollis, Generalized dystonia, Postural tremor, Progressive flexion contractures, Rigidity, F...	ORPHA:98808
Pelizaeus-Merzbacher Disease, Classic Form	Axial hypotonia, Spastic tetraparesis, Hypotonia, Titubation, Athetosis, Head tremor, Dystonia, S...	ORPHA:280219
Adams-Oliver Syndrome 1	Aplasia cutis congenita on trunk or limbs, Alopecia, Supernumerary nipple, Aplasia cutis congenit...	OMIM:100300
Neuropathy, Hereditary Sensory And Autonomic, Type Iib	Acral ulceration	OMIM:613115
Squamous Cell Carcinoma Of The Anal Canal	Skin ulcer	ORPHA:424019
Robinow Syndrome, Autosomal Recessive 1	Inguinal hernia, Nevus flammeus, Posteriorly rotated ears, Cryptorchidism, Wide nasal bridge, Umb...	OMIM:268310
De Sanctis-Cacchione Syndrome	Parakeratosis, Hypermelanotic macule, Bilateral cryptorchidism, Scissor gait, Choreoathetosis, Hy...	OMIM:278800
Autosomal Dominant Spastic Paraplegia Type 9B	Postural tremor, Elbow flexion contracture, Hypotonia, Focal dystonia, Spastic dysarthria, Spasti...	ORPHA:447757
Familial Paroxysmal Ataxia	Torticollis, Dystonia	ORPHA:97
Pseudo-Torch Syndrome 3	Cardiomegaly	OMIM:618886
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal	Orthokeratotic hyperkeratosis, Palmoplantar keratoderma, Nail dystrophy, Small nail, Decreased te...	OMIM:610644
Acute Promyelocytic Leukemia	Pancytopenia, Thrombocytopenia, Leukocytosis, Lymphadenopathy, Weight loss, Leukopenia, Neutropen...	ORPHA:520
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7	Rigidity, Dystonia	OMIM:600795
Wrinkly Skin Syndrome	Epicanthus, Inguinal hernia, Lipodystrophy, Cryptorchidism, Excessive skin wrinkling on dorsum of...	ORPHA:2834
Neuropathy, Hereditary Sensory And Autonomic, Type Iia	Paronychia, Acral ulceration	OMIM:201300
Proprotein Convertase 1/3 Deficiency	Hypoinsulinemia, Obesity, Reactive hypoglycemia	OMIM:600955
Developmental And Epileptic Encephalopathy 95	Cryptorchidism, Hepatomegaly, Cardiomegaly	OMIM:618143
Spinocerebellar Ataxia With Axonal Neuropathy Type 2	Postural tremor, Elevated circulating creatine kinase concentration, Elevated circulating alpha-f...	ORPHA:64753
Rasmussen Subacute Encephalitis	Decreased circulating total IgA, Hemidystonia	ORPHA:1929
Spinocerebellar Ataxia 34	Spasticity, Epidermal hyperkeratosis, Intention tremor	OMIM:133190
Amoebiasis Due To Entamoeba Histolytica	Elevated hepatic transaminase, Liver abscess, Leukocytosis, Weight loss, Hypoalbuminemia, Anemia	ORPHA:67
Cystinosis, Nephropathic	Skeletal muscle atrophy, Hypopigmentation of hair, Hepatomegaly, Failure to thrive in infancy, Di...	OMIM:219800
Pontocerebellar Hypoplasia, Type 2A	Congenital contracture, Dystonia, Opisthotonus	OMIM:277470
Neutrophilic Dermatosis, Acute Febrile	Erythema, Panniculitis, Pyoderma gangrenosum	OMIM:608068
Neuropathy, Hereditary Sensory And Autonomic, Type Ia	Sensorineural hearing impairment, Acral ulceration	OMIM:162400
Tropical Pancreatitis	Pancreatic adenocarcinoma, Maternal diabetes, Jaundice, Insulin-dependent but ketosis-resistant d...	ORPHA:103918
Treacher-Collins Syndrome	Abnormal dental enamel morphology, Absent eyelashes, Cryptorchidism, Abnormal hair morphology, Lo...	ORPHA:861
Intellectual Developmental Disorder, Autosomal Dominant 54	Lower limb spasticity, Axial hypotonia, Small for gestational age, Thin nail, Hypotonia, Neutrope...	OMIM:617799
Bronchial Neuroendocrine Tumor	Hepatomegaly, Chronic noninfectious lymphadenopathy, Elevated circulating growth hormone concentr...	ORPHA:97287
Severe Generalized Junctional Epidermolysis Bullosa	Alopecia, Skin erosion, Paronychia, Skin plaque, Nail dystrophy, Aplasia cutis congenita, Enamel ...	ORPHA:79404
Glycogen Storage Disease Ii	Hepatomegaly, Recurrent respiratory infections, Cardiomegaly, Splenomegaly, Pleural effusion	OMIM:232300
Attenuated Chédiak-Higashi Syndrome	Skin ulcer	ORPHA:352723
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome	High anterior hairline, Hypotonia, Hyperkeratosis, Generalized hypotonia, Spasticity	OMIM:615510
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2	Pancytopenia, Axial hypotonia, Generalized dystonia, Spastic tetraplegia, Dystonia, Left ventricu...	OMIM:618321
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Pyoderma gangrenosum	OMIM:150550
Toxic Epidermal Necrolysis	Macule, Entropion, Erythema, Skin ulcer, Conjunctivitis	ORPHA:537
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia	Highly arched eyebrow, Cryptorchidism, Long eyelashes, Short nose, Short palpebral fissure	OMIM:619005
Ataxia-Telangiectasia-Like Disorder	Dystonia, Generalized hypotonia, Intention tremor	ORPHA:251347
Short Tarsus With Absence Of Lower Eyelashes	Absent lower eyelashes, Hypoplasia of the lower eyelids	OMIM:600269
Rubinstein-Taybi Syndrome 1	Bilateral cryptorchidism, Flexion contracture, Low anterior hairline, Frontal hirsutism, Simple e...	OMIM:180849
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Epicanthus, Long eyelashes	OMIM:618476
Turner Syndrome Due To Structural X Chromosome Anomalies	Alopecia, Epicanthus, Abnormal fingernail morphology, Hearing impairment, Numerous congenital mel...	ORPHA:99413
Mosaic Monosomy X	Alopecia, Epicanthus, Abnormal fingernail morphology, Hearing impairment, Numerous congenital mel...	ORPHA:99228
Monosomy X	Alopecia, Epicanthus, Abnormal fingernail morphology, Hearing impairment, Numerous congenital mel...	ORPHA:99226
Turner Syndrome	Alopecia, Epicanthus, Abnormal fingernail morphology, Hearing impairment, Numerous congenital mel...	ORPHA:881
Palmoplantar Keratoderma, Punctate Type Ia	Orthokeratosis, Punctate palmoplantar hyperkeratosis, Hypergranulosis	OMIM:148600
Metachromatic Leukodystrophy, Adult Form	Neoplasm of the gallbladder, Progressive spastic quadriplegia, Decerebrate rigidity, Generalized ...	ORPHA:309271
Gallbladder Neuroendocrine Tumor	Chronic noninfectious lymphadenopathy, Biliary tract neoplasm, Extrahepatic cholestasis, Intermit...	ORPHA:100086
Robinow Syndrome, Autosomal Dominant 1	Epicanthus, Inguinal hernia, Posteriorly rotated ears, Nevus flammeus, Sacral dimple, Cryptorchid...	OMIM:180700
Chromosome 18P Deletion Syndrome	Small for gestational age, Cryptorchidism, Hypotonia, Dystonia, Decreased testicular size, Hypomi...	OMIM:146390
Classic Pantothenate Kinase-Associated Neurodegeneration	Weight loss, Spasticity, Generalized dystonia, Opisthotonus	ORPHA:216866
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency	Elevated circulating luteinizing hormone level, Cryptorchidism, Osteoporosis, Adrenocorticotropic...	ORPHA:168558
Oculocerebrorenal Syndrome Of Lowe	Low-set, posteriorly rotated ears, Sparse scalp hair, Hyperparathyroidism, Inguinal hernia, Abnor...	ORPHA:534
Niemann-Pick Disease Type C	Axial dystonia, Lower limb spasticity, Hepatomegaly, Dystonia, Bone-marrow foam cells, Tremor, Sp...	ORPHA:646
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset	Tremor, Dystonia	OMIM:617145
Perry Syndrome	Tremor, Weight loss, Rigidity, Dystonia	OMIM:168605
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis	Flexion contracture, Hepatosplenomegaly, Lymphadenopathy, Enthesitis, Weight loss, Anemia	ORPHA:85408
Leukodystrophy, Hypomyelinating, 9	Lower limb spasticity, Dystonia, Axial hypotonia, Intention tremor	OMIM:616140
Ménétrier Disease	Hypoproteinemia, Hypoalbuminemia, Hypochromic microcytic anemia, Weight loss	ORPHA:2494
Classic Progressive Supranuclear Palsy Syndrome	Axial dystonia, Tremor, Blepharospasm, Dystonia, Progressive extrapyramidal muscular rigidity, Ax...	ORPHA:240071
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency	Elevated circulating luteinizing hormone level, Cryptorchidism, Osteoporosis, Adrenocorticotropic...	ORPHA:289548
Stevens-Johnson Syndrome	Macule, Acute hepatic failure, Elevated hepatic transaminase, Abnormality of neutrophils, Acantho...	ORPHA:36426
Colchicine Poisoning	Alopecia	ORPHA:31824
Combined Pituitary Hormone Deficiencies, Genetic Forms	Osteopenia, Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypoglycemia, Anterior...	ORPHA:95494
Reactive Arthritis	Weight loss, Enthesitis, Hyperkeratosis, Dystrophic fingernails, Abnormality of the nail	ORPHA:29207
Dystonia-Deafness Syndrome 1	Leg dystonia, Generalized dystonia, Small for gestational age, Oculogyric crisis	OMIM:607371
Pgm3-Cdg	Mild neurosensory hearing impairment, Sensorineural hearing impairment, Skin ulcer, Narrow palpeb...	ORPHA:443811
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis	Skeletal muscle atrophy, Scapular winging, Centrally nucleated skeletal muscle fibers, Ragged-red...	OMIM:607459
Aromatic L-Amino Acid Decarboxylase Deficiency	Torticollis, Axial hypotonia, Exaggerated startle response, Oculogyric crisis, Limb tremor, Chore...	OMIM:608643
Beta-Thalassemia Intermedia	Hypoparathyroidism, Cholelithiasis, Pallor, Skin ulcer	ORPHA:231222
Pemphigus Erythematosus	Focal dermal aplasia/hypoplasia, Acantholysis, Localized skin lesion, Hypopigmented skin patches,...	ORPHA:79480
Neuroendocrine Tumor Of The Rectum	Elevated hepatic transaminase, Hepatomegaly, Chronic noninfectious lymphadenopathy, Weight loss	ORPHA:100081
Neuroendocrine Tumor Of Anal Canal	Elevated hepatic transaminase, Hepatomegaly, Chronic noninfectious lymphadenopathy, Weight loss	ORPHA:100082
Parathyroid Carcinoma	Pancreatic adenocarcinoma, Testicular neoplasm, Primary hyperparathyroidism, Osteoporosis, Abnorm...	ORPHA:143
Brain-Lung-Thyroid Syndrome	Thyroid dysgenesis, Hypoparathyroidism, Dystonia, Choreoathetosis, Webbed neck, Failure to thrive...	ORPHA:209905
Fbln1-Related Developmental Delay-Central Nervous System Anomaly-Syndactyly Syndrome	Cryptorchidism, Spastic tetraparesis, Dystonia	ORPHA:404451
Monocarboxylate Transporter 1 Deficiency	Ketotic hypoglycemia	OMIM:616095
Myhre Syndrome	Blepharophimosis, Cryptorchidism, Fine hair, Narrow palpebral fissure, Microtia, Low-set ears, Ca...	OMIM:139210
Coffin-Siris Syndrome 1	Dry hair, Congenital diaphragmatic hernia, Cryptorchidism, Low-set ears, Umbilical hernia, Hypert...	OMIM:135900
Dysosteosclerosis	Craniofacial hyperostosis, Increased bone mineral density, Aplasia/Hypoplasia of the skin, Abnorm...	ORPHA:1782
Xeroderma Pigmentosum, Variant Type	Entropion, Conjunctivitis, Dermal atrophy, Ectropion	OMIM:278750
Beta-Thalassemia Major	Hypoparathyroidism, Skin ulcer, Upslanted palpebral fissure, Pallor, Hypopituitarism	ORPHA:231214
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome	Osteopenia, Scapular winging, Abnormality of hair texture, Thickened skin, Synophrys, Hypoplastic...	ORPHA:73223
Ataxia-Oculomotor Apraxia 4	Hypoalbuminemia, Obesity, Elevated circulating alpha-fetoprotein concentration, Dystonia	OMIM:616267
Junctional Epidermolysis Bullosa With Pyloric Atresia	Nail dystrophy, Aplasia cutis congenita, Pterygium, Enamel hypoplasia, Ectropion	ORPHA:79403
Combined Oxidative Phosphorylation Deficiency 3	Hepatomegaly, Elevated circulating creatine kinase concentration, Tremor, Rhabdomyolysis, Hypoton...	OMIM:610505
Dihydropyrimidine Dehydrogenase Deficiency	Short nail, Large earlobe, Long eyelashes, Palpebral thickening, Downslanted palpebral fissures	ORPHA:1675
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome	Preauricular pit, Craniosynostosis, Cryptorchidism, Dystonia, Neonatal hypotonia	ORPHA:457193
Huntington Disease-Like 1	Generalized hypotonia, Weight loss	ORPHA:157941
Machado-Joseph Disease	Rigidity, Spasticity, Distal amyotrophy, Dystonia	OMIM:109150
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome	Cachexia	ORPHA:3217
Xeroderma Pigmentosum, Complementation Group E	Entropion, Conjunctivitis, Dermal atrophy, Ectropion	OMIM:278740
Pancreatoblastoma	Elevated maternal serum alpha-fetoprotein, Jaundice, Weight loss, Abnormal lymph node morphology,...	ORPHA:677
Eosinophilic Granulomatosis With Polyangiitis	Myositis, Eosinophilia, Subcutaneous nodule, Hypopigmented skin patches, Weight loss, Papule	ORPHA:183
Focal Dermal Hypoplasia	Ridged nail, Brittle hair, Congenital diaphragmatic hernia, Absent fingernail, Sparse hair, Focal...	OMIM:305600
Autosomal Dominant Severe Congenital Neutropenia	Pyoderma gangrenosum, Cellulitis	ORPHA:486
Friedreich Ataxia	Hand muscle atrophy, Diabetes mellitus, Dystonia, Spasticity, Impaired visually enhanced vestibul...	ORPHA:95
Cadds	Elevated hepatic transaminase, Cholangitis, Cholestasis, Dystonia	ORPHA:369942
Microscopic Polyangiitis	Erythema, Subcutaneous nodule, Skin ulcer	ORPHA:727
Metachromatic Leukodystrophy	Hypotonia, Spastic tetraplegia, Gallbladder dysfunction, Cholecystitis, Generalized hypotonia, Dy...	OMIM:250100
Mitochondrial Membrane Protein-Associated Neurodegeneration	Rigidity, Hand tremor, Dystonia, Spastic paraparesis, Spasticity	ORPHA:289560
Histiocytoid Cardiomyopathy	Hepatomegaly, Failure to thrive, Hypoglycemia, Polycystic ovaries	ORPHA:137675
Charcot-Marie-Tooth Disease Type 4B2	Sensorineural hearing impairment, Penetrating foot ulcers, Ptosis	ORPHA:99956
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy	Cardiomyopathy, Cardiomegaly	OMIM:619259
Multiple Endocrine Neoplasia Type 1	Pituitary corticotropic cell adenoma, Pituitary gonadotropic cell adenoma, Reduced bone mineral d...	ORPHA:652
Diffuse Cutaneous Systemic Sclerosis	Flexion contracture, Skin ulcer	ORPHA:220393
X-Linked Dystonia-Parkinsonism	Resting tremor, Torsion dystonia, Hand tremor, Focal dystonia, Blepharospasm, Limb dystonia, Prog...	ORPHA:53351
Neurodegeneration, Childhood-Onset, With Ataxia, Tremor, Optic Atrophy, And Cognitive Decline	Prolonged neonatal jaundice, Dystonia	OMIM:618868
Sporadic Infantile Bilateral Striatal Necrosis	Resting tremor, Dystonia, Infantile axial hypotonia, Titubation, Infantile muscular hypotonia, Pr...	ORPHA:225147
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction	Decreased response to growth hormone stimulation test, Gonadotropin deficiency, Hypotonia, Choreo...	OMIM:610978
Xeroderma Pigmentosum, Complementation Group D	Entropion, Sensorineural hearing impairment, Keratoconjunctivitis sicca, Conjunctivitis, Dermal a...	OMIM:278730
Idiopathic Camptocormia	Myositis, Elevated circulating creatine kinase concentration, Fatty replacement of skeletal muscl...	ORPHA:1320
Congenital Total Pulmonary Venous Return Anomaly	Recurrent respiratory infections, Hepatomegaly, Atrial situs ambiguous, Ventricular septal defect...	ORPHA:99125
Corticobasal Syndrome	Tremor, Dystonia, Progressive extrapyramidal muscular rigidity, Limb dystonia	ORPHA:454887
Chronic Granulomatous Disease	Macule, Hypermelanotic macule, Skin ulcer	ORPHA:379
Parkinson Disease 14, Autosomal Recessive	Axial dystonia, Resting tremor, Elevated circulating creatine kinase concentration, Upper limb po...	OMIM:612953
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome	Progressive flexion contractures, Abnormal location of the eyebrow, Widow's peak, Dermoid cyst, C...	ORPHA:522077
White Sponge Nevus 2	Hyperparakeratosis	OMIM:615785
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment	Bicuspid aortic valve, Ventricular septal defect, Partial atrioventricular canal defect, Cardiome...	OMIM:620066
Dystonia 2, Torsion, Autosomal Recessive	Tremor, Torticollis, Blepharospasm, Torsion dystonia	OMIM:224500
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome	Tremor, Rigidity, Head titubation, Hypotonia, Choreoathetosis, Hypertonia, Dystonia, Spasticity	OMIM:618877
Hypercalcemia, Infantile, 1	Failure to thrive, Hypotonia, Weight loss	OMIM:143880
Familial Idiopathic Dilatation Of The Right Atrium	Hepatomegaly, Cardiomegaly, Right atrial enlargement, Pleural effusion, Atrial septal dilatation,...	ORPHA:1677
Autoimmune Polyendocrinopathy Type 3	Anterior pituitary dysgenesis, Alopecia, Autoimmune hypoparathyroidism, Keratoconjunctivitis sicca	ORPHA:227982
Cornelia De Lange Syndrome	Low-set, posteriorly rotated ears, Curly eyelashes, Highly arched eyebrow, Congenital diaphragmat...	ORPHA:199
Perry Syndrome	Tremor, Weight loss	ORPHA:178509
Fructose Intolerance, Hereditary	Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Jaundice, Cirrhosis, Glycosuria, Failu...	OMIM:229600
Parkinsonism-Dystonia 3, Childhood-Onset	Tremor, Hypertonia, Action tremor, Dystonia	OMIM:619738
Autoimmune Polyendocrinopathy Type 4	Keratoconjunctivitis sicca, Alopecia, Anterior pituitary dysgenesis	ORPHA:227990
Neurocardiofaciodigital Syndrome	Sparse hair, Narrow palpebral fissure, Sparse eyebrow, Hearing impairment	OMIM:619869
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Cardiomegaly, Cryptorch...	OMIM:300967
Tylosis With Esophageal Cancer	Diffuse palmoplantar hyperkeratosis, Parakeratosis, Follicular hyperkeratosis	OMIM:148500
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Hyperkeratosis	ORPHA:163966
Lenz-Majewski Hyperostotic Dwarfism	Inguinal hernia, Aplasia/Hypoplasia of the skin, Abnormal nasolacrimal system morphology, Femoral...	ORPHA:2658
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism	Rigidity, Resting tremor, Postural tremor, Dystonia	OMIM:619911
Neuroblastoma, Susceptibility To, 1	Skin nodule, Failure to thrive, Anemia, Weight loss	OMIM:256700
Behcet Syndrome	Erythema, Patchy alopecia	OMIM:109650
Loeffler Endocarditis	Left ventricular hypertrophy, Eosinophilia, Weight loss	ORPHA:75566
Diffuse Alveolar Hemorrhage	Thrombocytopenia, Leukocytosis, Anemia, Weight loss	ORPHA:90060
Gabriele-De Vries Syndrome	Distal lower limb amyotrophy, Facial hypotonia, Decreased response to growth hormone stimulation ...	ORPHA:506358
8P23.1 Microdeletion Syndrome	Cryptorchidism, Obesity, Congenital diaphragmatic hernia, Weight loss	ORPHA:251071
Sweet Syndrome	Skin nodule, Pyoderma gangrenosum, Erythematous plaque, Panniculitis, Skin vesicle, Erythematous ...	ORPHA:3243
Hereditary Spherocytosis	Cholelithiasis, Pallor, Skin ulcer	ORPHA:822
Immunodeficiency 82 With Systemic Inflammation	Decreased proportion of naive T cells, Osteomalacia, Elevated circulating C-reactive protein conc...	OMIM:619381
Marbach-Schaaf Neurodevelopmental Syndrome	Torticollis, Hemidystonia, Tremor, Obesity, Neonatal hypotonia	OMIM:619680
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1	Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Primary amenorrhea, Secondary am...	OMIM:157640
Gastrointestinal Defects And Immunodeficiency Syndrome 2	Head titubation, Knee flexion contracture, Dystonia, Lymphopenia, Intention tremor	OMIM:619708
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To	Jaundice, Hypoglycemia	OMIM:615751
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation	Torticollis, Spastic tetraplegia, Spastic diplegia, Congenital fibrosis of extraocular muscles, D...	ORPHA:300570
Machado-Joseph Disease Type 1	Distal lower limb amyotrophy, Skeletal muscle atrophy, Spasticity, Dystonia	ORPHA:276238
Machado-Joseph Disease Type 2	Distal lower limb amyotrophy, Skeletal muscle atrophy, Spasticity, Dystonia	ORPHA:276241
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities	Small for gestational age, Cryptorchidism, Hypotonia, Spastic tetraplegia, Hypertonia, Dystonia, ...	OMIM:620024
Cerebral Creatine Deficiency Syndrome 1	Axial hypotonia, Hypotonia, Hypertonia, Dystonia, Neonatal hypotonia, Spasticity, Failure to thrive	OMIM:300352
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome	Epicanthus, Long eyelashes, Cryptophthalmos	OMIM:615877
Central Diabetes Insipidus	Failure to thrive, Weight loss	ORPHA:178029
Methylmalonic Aciduria And Homocystinuria, Cbld Type	Megaloblastic anemia, Hypotonia, Increased mean corpuscular volume, Generalized hypotonia, Dystonia	OMIM:277410
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Synophrys, Hypertonia, Decreased body weight, Hepatic steatosis, Intention tremor, Overweight, Ob...	OMIM:619475
Systemic Capillary Leak Syndrome	Leukocytosis, Pancreatitis, Weight loss	ORPHA:188
Singleton-Merten Syndrome 2	Osteopenia, Hyperkeratosis, Osteolytic defects of the phalanges of the hand	OMIM:616298
Glucocorticoid Deficiency 2	Recurrent hypoglycemia	OMIM:607398
Bloom Syndrome	Sparse eyelashes, Adipose tissue loss, Paronychia, Patchy alopecia, Cafe-au-lait spot	ORPHA:125
Metachromatic Leukodystrophy, Juvenile Form	Decerebrate rigidity, Generalized hypotonia, Dystonia, Cholecystitis, Spasticity, Intention tremor	ORPHA:309263
Metachromatic Leukodystrophy	Dystonia, Tremor, Neoplasm of the gallbladder, Abnormal gallbladder morphology, Hemobilia, Decere...	ORPHA:512
Non-Functioning Paraganglioma	Tremor, Weight loss	ORPHA:94080
Smith-Lemli-Opitz Syndrome	Low-set, posteriorly rotated ears, Hypopigmentation of hair, Epicanthus, Abnormal dental enamel m...	ORPHA:818
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism	Tremor, Spasticity, Dystonia, Intention tremor	OMIM:614381
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum	Symblepharon, Trichiasis, Skin ulcer, Atypical scarring of skin, Keratoconjunctivitis sicca, Conj...	ORPHA:95455
Congenital Enterocyte Heparan Sulfate Deficiency	Abnormal circulating protein concentration, Hypoalbuminemia, Weight loss	ORPHA:103910
Neurodegeneration With Brain Iron Accumulation 5	Tremor, Dystonia, Rigidity, Spastic paraparesis	OMIM:300894
Acrofacial Dysostosis 1, Nager Type	Sparse lower eyelashes, Posteriorly rotated ears, Congenital diaphragmatic hernia, Lower eyelid c...	OMIM:154400
Pneumocystosis	Weight loss, Increased circulating antibody level, Abnormal neutrophil count	ORPHA:723
Mitochondrial Dna-Associated Leigh Syndrome	Hepatomegaly, Hepatic failure, Ragged-red muscle fibers, Hypertonia, Dystonia, Spasticity, Failur...	ORPHA:255210
Thyrotoxic Periodic Paralysis	Abnormal muscle fiber morphology, Tremor, Rhabdomyolysis, Obesity, Weight loss, Increased intramy...	ORPHA:79102
Cerebrotendinous Xanthomatosis	Osteopenia, Resting tremor, Tendon xanthomatosis, Osteoporosis, Distal amyotrophy, Prolonged neon...	ORPHA:909
Arterial Calcification, Generalized, Of Infancy, 1	Dilated cardiomyopathy, Cardiomegaly	OMIM:208000
Xeroderma Pigmentosum, Complementation Group C	Entropion, Conjunctivitis, Dermal atrophy, Ectropion	OMIM:278720
Oculopharyngodistal Myopathy 1	Autophagic vacuoles, Facial palsy, Elevated circulating creatine kinase concentration, Tremor, We...	OMIM:164310
Igg4-Related Dacryoadenitis And Sialadenitis	Myositis, Increased circulating IgG4 level, Increased circulating IgA level, Retroperitoneal fibr...	ORPHA:79078
Developmental And Epileptic Encephalopathy 29	Axial hypotonia, Blepharospasm, Limb dystonia, Spasticity, Failure to thrive	OMIM:616339
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Atrial septal defect, Bicuspid aortic valve, Cardiomegaly, Mitral valve prolapse, Left ventricula...	OMIM:245600
Posttransplant Acute Limbic Encephalitis	Dystonia	ORPHA:163921
Primrose Syndrome	Skeletal muscle atrophy, Bilateral cryptorchidism, Synophrys, Flexion contracture, Knee flexion c...	OMIM:259050
Machado-Joseph Disease Type 3	Distal lower limb amyotrophy, Skeletal muscle atrophy, Spasticity, Dystonia	ORPHA:276244
Norrie Disease	Diabetes mellitus, Cachexia, Cryptorchidism, Hypotonia, Hypertonia, Failure to thrive	ORPHA:649
Mucopolysaccharidosis Type 3	Recurrent sinopulmonary infections, Hepatomegaly, Cardiomegaly, Respiratory tract infection, Sple...	ORPHA:581
Lesch-Nyhan Syndrome	Megaloblastic anemia, Hypotonia, Opisthotonus, Choreoathetosis, Dystonia, Spasticity, Testicular ...	OMIM:300322
Neuroendocrine Tumor Of Stomach	Elevated hepatic transaminase, Hepatomegaly, Chronic noninfectious lymphadenopathy, Weight loss, ...	ORPHA:100075
Congenital Fiber-Type Disproportion Myopathy	Hip contracture, Failure to thrive, Ankle flexion contracture, Hypoplasia of the musculature, Fle...	ORPHA:2020
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2	Elevated circulating creatine kinase concentration, Elevated circulating alpha-fetoprotein concen...	OMIM:606002
Pallister-Killian Syndrome	Congenital diaphragmatic hernia, Flexion contracture, Camptodactyly of 2nd-5th fingers, Sparse ha...	OMIM:601803
Roberts Syndrome	Progressive flexion contractures, External ear malformation, Cryptorchidism, Knee flexion contrac...	ORPHA:3103
Familial Thrombocytosis	Acute myeloid leukemia, Splenomegaly, Chronic myelogenous leukemia, Weight loss, Thrombocytosis	ORPHA:71493
Rheumatoid Arthritis	Digital flexor tenosynovitis, Elevated circulating C-reactive protein concentration, Weight loss	OMIM:180300
Hereditary Central Diabetes Insipidus	Weight loss	ORPHA:30925
Gm2-Gangliosidosis, Ab Variant	Exaggerated startle response, Axial hypotonia, Spastic tetraparesis, Hypotonia, Hypertonia, Gener...	OMIM:272750
Granulomatosis With Polyangiitis	Conjunctivitis, Skin ulcer	OMIM:608710
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4A	Generalized dystonia, Spastic tetraparesis, Dystonia, Failure to thrive, Anemia	OMIM:620358
Pmm2-Cdg	Osteopenia, Elevated hepatic transaminase, Multiple joint contractures, Axial hypotonia, Lipodyst...	ORPHA:79318
Fabry Disease	Subcutaneous nodule, Reduced bone mineral density, Hyperkeratosis, Left ventricular hypertrophy, ...	ORPHA:324
Peritoneal Cystic Mesothelioma	Peritonitis, Weight loss	ORPHA:168816
Metachromatic Leukodystrophy, Late Infantile Form	Dystonia, Cholecystitis, Decerebrate rigidity, Generalized hypotonia, Spasticity	ORPHA:309256
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities	Resting tremor, Dystonia, Cogwheel rigidity, Intention tremor	OMIM:619725
Manganese Poisoning	Dystonia, Hypertonia, Postural tremor, Cogwheel rigidity	ORPHA:306682
Malignant Peritoneal Mesothelioma	Peritonitis, Weight loss	ORPHA:168811
Amoebiasis Due To Free-Living Amoebae	Conjunctival hyperemia, Subcutaneous nodule, Skin ulcer, Papule	ORPHA:68
Spinocerebellar Ataxia 21	Dystonia, Postural tremor, Cogwheel rigidity, Intention tremor	OMIM:607454
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2	Right ventricular hypertrophy, Cardiomegaly	ORPHA:268
Cerebral Visual Impairment	Neonatal hypoglycemia	ORPHA:447788
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome	Facial hypotonia, Neonatal hypoglycemia, Large for gestational age, Sparse eyebrow, Hypotonia, Sl...	ORPHA:457359
Pyomyositis	Myositis, Leukocytosis, Subcutaneous nodule, Weight loss, Testicular teratoma	ORPHA:764
Alternating Hemiplegia Of Childhood	Facial hypotonia, Tremor, Rigidity, Hypotonia, Choreoathetosis, Thin eyebrow, Dystonia, Failure t...	ORPHA:2131
Neuroleptic Malignant Syndrome	Elevated hepatic transaminase, Extrapyramidal muscular rigidity, Elevated circulating creatine ki...	ORPHA:94093
Peeling Skin Syndrome 6	Orthokeratosis, Parakeratosis	OMIM:618084
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities	Short ear, Palpebral edema, Posteriorly rotated ears, Hiatus hernia, Protruding ear, Long eyelash...	OMIM:614756
Secondary Short Bowel Syndrome	Failure to thrive, Cholestasis, Weight loss	ORPHA:95427
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome	Hiatus hernia, Cryptorchidism, Hypotonia, Reduced bone mineral density, Nail dysplasia, Sparse ha...	OMIM:616682
Fraser Syndrome 1	Absent eyebrow, Abnormal pinna morphology, Absent eyelashes, Cryptorchidism, Cupped ear, Extensio...	OMIM:219000
Hirschsprung Disease	Failure to thrive in infancy, Weight loss	ORPHA:388
Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects	Osteopenia, Highly arched eyebrow, Cryptorchidism, Hypotonia, Dystonia, Failure to thrive	OMIM:620083
Tsh-Secreting Pituitary Adenoma	Abnormal hair quantity, Enlarged pituitary gland, Osteopenia, Elevated circulating growth hormone...	ORPHA:91347
Wild Type Attr Amyloidosis	Hepatomegaly, Weight loss	ORPHA:330001
Malakoplakia	Orchitis, Subcutaneous nodule, Skin ulcer, Papule	ORPHA:556
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form	Osteopenia, Foot joint contracture, Flexion contracture, Osteoporosis, Iron deficiency anemia, At...	ORPHA:79408
Familial Hyperthyroidism Due To Mutations In Tsh Receptor	Small for gestational age, Hand tremor, Weight loss, Thyroid hyperplasia, Goiter	ORPHA:424
Acute Liver Failure	Elevated hepatic transaminase, Hypoglycemia, Jaundice, Hepatitis, Hepatic necrosis, Hepatocellula...	ORPHA:90062
Legius Syndrome	Acute monocytic leukemia, Hypotonia, Ovarian neoplasm, Multiple lipomas, Xanthelasma, Dystonia, M...	ORPHA:137605
Catastrophic Antiphospholipid Syndrome	Skin ulcer	ORPHA:464343
Sarcoidosis, Susceptibility To, 1	Hepatomegaly, Pancytopenia, Generalized lymphadenopathy, Mediastinal lymphadenopathy, Splenomegal...	OMIM:181000
Immunoglobulin A Vasculitis	Macule, Orchitis, Erythema, Skin ulcer, Purpura	ORPHA:761
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome	Abnormal thymus morphology, Cardiomegaly	ORPHA:2463
Pachyonychia Congenita 3	Plantar hyperkeratosis, Onychogryposis of toenails, Palmoplantar keratoderma, Nail dystrophy, Fol...	OMIM:615726
Gm2 Gangliosidosis, Ab Variant	Infantile axial hypotonia, Progressive spastic quadriplegia, Exaggerated startle response, Dystonia	ORPHA:309246
6Q Terminal Deletion Syndrome	Highly arched eyebrow, Low anterior hairline, Obesity, Hyperkeratosis, Infantile muscular hypoton...	ORPHA:75857
Seborrhea-Like Dermatitis With Psoriasiform Elements	Hyperkeratosis	OMIM:610227
Igg4-Related Kidney Disease	Eosinophilia, Increased circulating IgG4 level, Elevated circulating C-reactive protein concentra...	ORPHA:449395
Wiskott-Aldrich Syndrome	Skin ulcer, Hypoplasia of the thymus, Conjunctivitis, Blepharitis, Petechiae, Purpura	ORPHA:906
Osteosarcoma	Osteolysis, Weight loss	ORPHA:668
Atypical Progressive Supranuclear Palsy Syndrome	Extrapyramidal muscular rigidity, Tremor, Rigidity, Focal dystonia, Blepharospasm, Tremor by anat...	ORPHA:99750
Gerstmann-Straussler Disease	Tremor, Rigidity, Weight loss, Spasticity, Lower limb muscle weakness	OMIM:137440
Hereditary Fructose Intolerance	Hepatomegaly, Jaundice, Chronic hepatic failure, Reactive hypoglycemia	ORPHA:469
Hereditary Late-Onset Parkinson Disease	Resting tremor, Rigidity, Weight loss, Dystonia, Hypomimic face	ORPHA:411602
Cholera	Hypoglycemia	ORPHA:173
Floating-Harbor Syndrome	Inguinal hernia, Posteriorly rotated ears, Cryptorchidism, Low posterior hairline, Long eyelashes...	OMIM:136140
Multiple System Atrophy	Axial dystonia, Resting tremor, Postural tremor, Rigidity	ORPHA:102
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
Malignant Atrophic Papulosis	Peritonitis, Dermal atrophy, Papule, Weight loss	ORPHA:679
Glycogen Storage Disease Due To Acid Maltase Deficiency	Hepatomegaly, Cardiomegaly, Respiratory tract infection, Atelectasis, Left ventricular hypertroph...	ORPHA:365
Arboleda-Tham Syndrome	Axial hypotonia, Highly arched eyebrow, Craniosynostosis, Bilateral cryptorchidism, Hypotonia, Up...	OMIM:616268
Liposarcoma	Subcutaneous nodule, Weight loss	ORPHA:69078
Multiple System Atrophy, Parkinsonian Type	Axial dystonia, Resting tremor, Postural tremor, Rigidity	ORPHA:98933
Familial Thoracic Aortic Aneurysm And Aortic Dissection	Pneumothorax, Bicuspid aortic valve, Cardiomegaly	ORPHA:91387
Leber Optic Atrophy	Myopathy, Postural tremor, Dystonia	OMIM:535000
Episodic Ataxia, Type 2	Dystonia	OMIM:108500
Riddle Syndrome	Generalized lymphadenopathy, Elevated circulating alpha-fetoprotein concentration, Weight loss, D...	ORPHA:420741
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Spasticity	Appendicular spasticity, Axial hypotonia, Dystonia	OMIM:617669
8Q24.3 Microdeletion Syndrome	Skin tags, Ectopic posterior pituitary, Epicanthus, Posteriorly rotated ears, Inguinal hernia, Hi...	ORPHA:508488
Bohring-Opitz Syndrome	Recurrent respiratory infections, Cardiomegaly, Abnormal cardiac septum morphology, Cholelithiasi...	ORPHA:97297
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation	Facial hypotonia, Exaggerated startle response, Severe muscular hypotonia, Dystonia	ORPHA:438216
Progressive Supranuclear Palsy	Tremor, Rigidity, Blepharospasm, Dystonia	ORPHA:683
Kindler Syndrome	Ridged nail, Symblepharon, Spotty hypopigmentation, Dermal atrophy, Diffuse skin atrophy	OMIM:173650
Adult-Onset Dystonia-Parkinsonism	Tremor, Rigidity, Focal dystonia, Abnormal circulating creatine kinase concentration, Dystonia, S...	ORPHA:199351
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Urticarial plaque, Panniculitis, Skin ulcer, Purpura	OMIM:615688
Rat-Bite Fever	Parotitis, Lymphadenitis, Tendonitis, Weight loss, Pancreatitis, Anemia	ORPHA:31205
Roberts-Sc Phocomelia Syndrome	Posteriorly rotated ears, Abnormal pinna morphology, Ankle flexion contracture, Cryptorchidism, E...	OMIM:268300
Congenital Tufting Enteropathy	Cholestatic liver disease, Failure to thrive, Weight loss	ORPHA:92050
Viss Syndrome	Sparse scalp hair, Alopecia, Ptosis, Posteriorly rotated ears, Inguinal hernia, Cupped ear, Cutis...	OMIM:619472
Postencephalitic Parkinsonism	Resting tremor, Oculogyric crisis, Rigidity, Cogwheel rigidity, Tremor by anatomical site	ORPHA:97349
Spinocerebellar Ataxia Type 6	Blepharospasm, Intention tremor, Dystonia	ORPHA:98758
Linear Skin Defects With Multiple Congenital Anomalies 3	Axial hypotonia, Thyroid C cell hyperplasia, Asymmetric, linear skin defects, Hypotonia, Failure ...	OMIM:300952
Spastic Ataxia 3, Autosomal Recessive	Spasticity, Dystonia	OMIM:611390
Developmental And Epileptic Encephalopathy 38	Dystonia, Axial hypotonia, Limb hypertonia	OMIM:617020
Inflammatory Bowel Disease (Crohn Disease) 1	Weight loss	OMIM:266600
Multiple System Atrophy, Cerebellar Type	Axial dystonia, Resting tremor, Postural tremor, Rigidity	ORPHA:227510
Ileal Neuroendocrine Tumor	Elevated hepatic transaminase, Extrahepatic cholestasis, Weight loss, Lymphadenopathy, Iron defic...	ORPHA:100078
Developmental Malformations-Deafness-Dystonia Syndrome	Macroglossia, Generalized dystonia	ORPHA:79107
Steinert Myotonic Dystrophy	Alopecia, Decreased response to growth hormone stimulation test, Bilateral ptosis, Early balding,...	ORPHA:273
Behçet Disease	Myositis, Orchitis, Splenomegaly, Subcutaneous nodule, Lymphadenopathy, Weight loss, Pancreatitis...	ORPHA:117
Primary Fanconi Renotubular Syndrome	Hypoglycemia, Osteomalacia, Weight loss, Glycosuria, Hypophosphatemic rickets	ORPHA:3337
Erdheim-Chester Disease	Increased bone mineral density, Retroperitoneal fibrosis, Osteolysis, Weight loss, Xanthelasma, A...	ORPHA:35687
Nocardiosis	Liver abscess, Lymphadenitis, Peritonitis, Subcutaneous nodule, Weight loss, Cellulitis	ORPHA:31204
Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome	Spasticity, Axial hypotonia, Dystonia	ORPHA:500144
Ramon Syndrome	Hyperkeratosis, Decreased body weight, Hypertrichosis	OMIM:266270
Neurodegeneration With Brain Iron Accumulation 1	Decreased muscle mass, Acanthocytosis, Tremor, Rigidity, Blepharospasm, Choreoathetosis, Myopathy...	OMIM:234200
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Epicanthus, Highly arched eyebrow, Frontal balding, Synophrys, Sensorineural hearing impairment, ...	OMIM:612474
Postinfectious Vasculitis	Abnormal circulating protein concentration, Viral hepatitis, Elevated circulating C-reactive prot...	ORPHA:48435
Parkinsonian-Pyramidal Syndrome	Rigidity, Dystonia, Intention tremor, Spasticity, Hypomimic face	ORPHA:171695
Familial Gestational Hyperthyroidism	Goiter, Weight loss, Hand tremor, Thyroid hyperplasia	ORPHA:99819
Sporadic Pheochromocytoma/Secreting Paraganglioma	Tremor, Extraadrenal pheochromocytoma, Weight loss, Adrenal pheochromocytoma	ORPHA:276621
Fanconi Anemia	Pyridoxine-responsive sideroblastic anemia, Cryptorchidism, Hypopigmented skin patches, Weight lo...	ORPHA:84
Systemic Lupus Erythematosus	Alopecia	ORPHA:536
Parkes Weber Syndrome	Scaling skin, Erythematous plaque, Capillary malformation, Skin ulcer	ORPHA:90307
Split Cord Malformation	Tufted hairs, Penetrating foot ulcers, Skin dimple, Lipoma, Hypertrichosis	ORPHA:573278
African Trypanosomiasis	Erythematous macule, Alopecia, Hepatomegaly, Tremor, Splenomegaly, Jaundice, Lymphadenopathy, Cho...	ORPHA:3385
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Frontal balding, Neonatal hypoglycemia, Testicular adrenal rest tumor, Weight loss, Failure to th...	ORPHA:90794
Kcnq2-Related Epileptic Encephalopathy	Hypotonia, Dystonia	ORPHA:439218
Young-Onset Parkinson Disease	Tremor, Spasticity, Rigidity, Dystonia	ORPHA:2828
Neurooculorenal Syndrome	Cryptorchidism, Ectopic posterior pituitary, Highly arched eyebrow, Recurrent hypoglycemia	OMIM:620305
Igg4-Related Retroperitoneal Fibrosis	Normocytic anemia, Psoriasiform dermatitis, Elevated circulating C-reactive protein concentration...	ORPHA:49041
Primary Sjögren Syndrome	Skin ulcer, Keratoconjunctivitis sicca, Dry skin, Lichenoid skin lesion, Parotitis, Purpura	ORPHA:289390
Caribbean Parkinsonism	Rigidity, EMG: myopathic abnormalities, Action tremor, Dystonia	ORPHA:97355
Yunis-Varon Syndrome	Sparse scalp hair, Redundant neck skin, Sparse eyelashes, Abnormal pinna morphology, Hearing impa...	ORPHA:3472
Intellectual Developmental Disorder, Autosomal Dominant 42	Limb dystonia, Hypotonia, Dystonia, Infantile axial hypotonia, Failure to thrive, Lower limb musc...	OMIM:616973
X-Linked Intellectual Disability, Snyder Type	Cryptorchidism, Hypospadias, Abnormality of the Leydig cells, Testicular atrophy	ORPHA:3063
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis	Small for gestational age, Hypoglycemia, Craniosynostosis, Cryptorchidism, Polycystic ovaries, Ov...	OMIM:201750
Pancreatic Triacylglycerol Lipase Deficiency	Osteomalacia, Osteoporosis, Rickets, Weight loss, Iron deficiency anemia, Exocrine pancreatic ins...	ORPHA:309031
Early Infantile Epileptic Encephalopathy	Tremor, Choreoathetosis, Absent thumbnail, Dystonia, Umbilical hernia, Spasticity, Failure to thr...	ORPHA:1934
Spinocerebellar Ataxia Type 8	Spastic dysarthria, Spasticity, Rigidity, Dystonia	ORPHA:98760
Dystonia-Aphonia Syndrome	Oromandibular dystonia, Macroglossia, Generalized dystonia	ORPHA:412217
Sotos Syndrome	Hip contracture, Inguinal hernia, Ankle flexion contracture, Craniosynostosis, Tremor, Sparse ant...	ORPHA:821
Malt Lymphoma	Mediastinal lymphadenopathy, Weight loss, Anemia, Lymphadenopathy	ORPHA:52417
Blau Syndrome	Flexion contracture of toe, Camptodactyly of finger, Skin ulcer, Intermittent generalized erythem...	OMIM:186580
Blau Syndrome	Camptodactyly of finger, Erythema, Skin ulcer, Abnormal salivary gland morphology, Dry skin, Papule	ORPHA:90340
Inflammatory Bowel Disease 11	Weight loss	OMIM:191390
Rett Syndrome, Congenital Variant	Athetosis, Generalized hypotonia, Dystonia, Neonatal hypotonia, Spasticity	OMIM:613454
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2	Increased circulating interleukin 6 concentration, Elevated circulating C-reactive protein concen...	OMIM:301074
Granulomatosis With Polyangiitis	Elevated circulating C-reactive protein concentration, Skin ulcer, Weight loss, Granulomatosis, P...	ORPHA:900
Ataxia With Vitamin E Deficiency	Xanthelasma, Tendon xanthomatosis, Dystonia	OMIM:277460
Cutis Marmorata Telangiectatica Congenita	Aplasia/Hypoplasia of the skin, Blue nevus, Multiple cafe-au-lait spots, Skin erosion, Purpura	ORPHA:1556
Pyruvate Dehydrogenase E2 Deficiency	Paroxysmal dystonia, Hypertonia, Frog-leg posture, Arm dystonia	ORPHA:79244
Neuropathy, Hereditary Sensory And Autonomic, Type V	Acral ulceration	OMIM:608654
Parkinson Disease, Late-Onset	Tremor, Resting tremor, Rigidity, Dystonia	OMIM:168600
Alpha-N-Acetylgalactosaminidase Deficiency Type 2	Cardiomegaly	ORPHA:79280
Neuropathy, Hereditary Sensory, With Spastic Paraplegia, Autosomal Recessive	Acral ulceration	OMIM:256840
Abetalipoproteinemia	Hepatomegaly, Hypothyroidism, Cardiomegaly	ORPHA:14
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome	Weight loss	ORPHA:79127
Hereditary Pheochromocytoma-Paraganglioma	Tremor, Extraadrenal pheochromocytoma, Weight loss, Adrenal pheochromocytoma	ORPHA:29072
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Osteopenia, Exaggerated startle response, Cryptorchidism, Abnormality of the anterior pituitary, ...	ORPHA:438213
Plague	Localized skin lesion, Skin ulcer, Conjunctival hyperemia, Dry skin, Hearing impairment	ORPHA:707
Cap Polyposis	Weight loss	ORPHA:160148
Mercury Poisoning	Tremor, Dystonia	ORPHA:330021
Leukocyte Adhesion Deficiency, Type I	Skin ulcer	OMIM:116920
Williams Syndrome	Hypoplasia of penis, Bicuspid aortic valve, Cardiomegaly, Atrial septal defect, Hypothyroidism, O...	ORPHA:904
Combined Oxidative Phosphorylation Deficiency 29	Spasticity, Generalized hypotonia, Dystonia	OMIM:616811
Yao Syndrome	Weight loss	OMIM:617321
Pulmonary Alveolar Microlithiasis	Hepatomegaly, Weight loss, Stippled calcification in carpal bones, Increased circulating surfacta...	ORPHA:60025
Yunis-Varon Syndrome	Sparse scalp hair, Epicanthus, Absent nipple, Sparse eyelashes, Redundant neck skin, Sparse eyebr...	OMIM:216340
Fatty Acid Hydroxylase-Associated Neurodegeneration	Progressive spastic quadriplegia, Progressive spastic paraparesis, Generalized dystonia, Progress...	ORPHA:329308
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Highly arched eyebrow, Trichiasis, Cryptorchidism, Pilomatrixoma, Sensorineural hearing impairmen...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Highly arched eyebrow, Trichiasis, Cryptorchidism, Pilomatrixoma, Sensorineural hearing impairmen...	ORPHA:353277
Parkinson Disease 23, Autosomal Recessive Early-Onset	Rigidity, Resting tremor, Spasticity, Limb dystonia	OMIM:616840
Alzheimer Disease 3	Spastic tetraparesis, Dystonia	OMIM:607822
Semilobar Holoprosencephaly	Limb dystonia, Decreased response to growth hormone stimulation test, Flexion contracture, Infant...	ORPHA:220386
Alobar Holoprosencephaly	Limb dystonia, Decreased response to growth hormone stimulation test, Flexion contracture, Infant...	ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly	Limb dystonia, Decreased response to growth hormone stimulation test, Flexion contracture, Infant...	ORPHA:93926
Lobar Holoprosencephaly	Limb dystonia, Decreased response to growth hormone stimulation test, Flexion contracture, Infant...	ORPHA:93924
Neurodegeneration With Brain Iron Accumulation 2B	Dystonia, Hypertonia, Spasticity, Intention tremor	OMIM:610217
Autoimmune Pulmonary Alveolar Proteinosis	Abnormal circulating protein concentration, Intraalveolar phospholipid accumulation, Weight loss	ORPHA:747
Parkinson Disease 1, Autosomal Dominant	Rigidity, Resting tremor, Dystonia	OMIM:168601
Autosomal Recessive Spastic Paraplegia Type 35	Lower limb spasticity, Generalized dystonia, Spastic tetraparesis, Spastic paraplegia, Lower limb...	ORPHA:171629
Neurodevelopmental Disorder With Poor Language And Loss Of Hand Skills	Dystonia	OMIM:617903
Nmda Receptor Encephalitis	Ovarian teratoma, Oculogyric crisis, Rigidity, Neoplasm of the thymus, Testicular teratoma, Opist...	ORPHA:217253
Fatal Familial Insomnia	Weight loss	OMIM:600072
Parkinson Disease 20, Early-Onset	Tremor, Rigidity, Leg muscle stiffness, Dystonia	OMIM:615530
Glucose-Galactose Malabsorption	Failure to thrive, Weight loss	ORPHA:35710
Renal Agenesis, Bilateral	Nonketotic hypoglycemia	ORPHA:1848
Autosomal Recessive Cutis Laxa Type 1	Wide anterior fontanel, Inguinal hernia, Hernia, Dystonia	ORPHA:90349
Renal Nutcracker Syndrome	Anemia, Weight loss	ORPHA:71273
Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency	Axial hypotonia, Oculogyric crisis, Maturity-onset diabetes of the young, Tremor, Hypertonia	ORPHA:1578
Beta-Ureidopropionase Deficiency	Neonatal hypotonia, Hypotonia, Dystonia	OMIM:613161
Leukocyte Adhesion Deficiency	Nail dystrophy, Pyoderma gangrenosum, Conjunctivitis, Nasolacrimal sac granuloma	ORPHA:2968
Tubulointerstitial Nephritis And Uveitis Syndrome	Normocytic anemia, Elevated circulating C-reactive protein concentration, Weight loss, Increased ...	ORPHA:91500
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy	Paroxysmal dystonia	ORPHA:98784
Kufor-Rakeb Syndrome	Oculogyric crisis, Rigidity, Blepharospasm, Hypertonia, Leg muscle stiffness, Lingual dystonia, H...	ORPHA:306674
Singleton-Merten Syndrome 1	Recurrent respiratory infections, Mitral valve calcification, Cardiomegaly, Aortic valve calcific...	OMIM:182250
Parkinson Disease 4, Autosomal Dominant	Weight loss	OMIM:605543
Baller-Gerold Syndrome	Epicanthus, Mixed hearing impairment, Posteriorly rotated ears, Erythema, Dermal atrophy, Low-set...	OMIM:218600
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency	Dystonia	ORPHA:79233
Glossopharyngeal Neuralgia	Weight loss	ORPHA:221098
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies	Limb dystonia, Hemolytic anemia, Elevated circulating creatine kinase concentration, Dystonia, Sp...	OMIM:175780
Adenocarcinoma Of The Anal Canal	Skin ulcer	ORPHA:424016
Mitochondrial Complex I Deficiency, Nuclear Type 2	Hypotonia, Dystonia	OMIM:618222
X-Linked Alport Syndrome-Diffuse Leiomyomatosis	Failure to thrive, Weight loss	ORPHA:1018
Acquired Central Diabetes Insipidus	Weight loss	ORPHA:95626
Supranuclear Palsy, Progressive, 1	Axial dystonia, Tremor, Rigidity, Retrocollis, Limb dystonia	OMIM:601104
Kanzaki Disease	Hyperkeratosis	OMIM:609242
Holoprosencephaly 1	Hypoglycemia, Generalized hypotonia	OMIM:236100
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Few cafe-au-lait spots, Umbilical hernia, Hypotonia, Dystonia	OMIM:620330
Supranuclear Palsy, Progressive, 2	Axial dystonia, Rigidity, Postural tremor, Retrocollis	OMIM:609454
Generalized Arterial Calcification Of Infancy	Ventricular hypertrophy, Adrenal calcification, Cardiomegaly, Pericardial effusion, Myocardial ca...	ORPHA:51608
Carney-Stratakis Syndrome	Weight loss	ORPHA:97286
Goodpasture Syndrome	Anemia, Weight loss	OMIM:233450

Histopathology

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

There is no histopathology data for Twist2

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 Twist2.

No publications found that use IMPC mice or data for Twist2.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele	Allele Type	Produced
Twist2^{tm1(KOMP)Vlcg}	Reporter-tagged deletion allele (with selection cassette)	Mice, ES Cells
Twist2^{tm1.1(KOMP)Vlcg}	Reporter-tagged deletion allele (post Cre, with no selection cassette)	Mice, Tissue
Twist2^{tm415683(Ifitm2_intron_L1L2_GT0_LF2A_LacZ_BetactP_neo)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors

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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