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Gene: Edaradd MGI:1931001

Gene Summary

Name:

EDAR associated via death domain

Synonyms:

5830469M23Rik, EDAR (ectodysplasin-A receptor)-associated death domain, 1810032E07Rik

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	System	Allele	Zyg	Sex	Life Stage	P Value
preweaning lethality, incomplete penetrance		Edaradd^em1(IMPC)Bay	HOM		Early adult	0.00

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lacZ Expression

Expression data not available

Associated Images

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

Eye Morphology

VIP of left fundus

17 Images

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Eye Morphology

VIP of right eye

17 Images

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Eye Morphology

VIP of left eye

17 Images

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Eye Morphology

VIP of right fundus

17 Images

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Human diseases caused by Edaradd 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 Edaradd (5 diseases)
Human diseases predicted to be associated with Edaradd (2014 diseases)

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

Disease	Matching phenotypes	Source
Autosomal Dominant Hypohidrotic Ectodermal Dysplasia	Abnormal dental morphology, Abnormal fingernail morphology, Premature loss of primary teeth, Abno...	ORPHA:1810
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia	Alopecia, Abnormal dental morphology, Abnormal fingernail morphology, Premature loss of primary t...	ORPHA:248
Oligodontia	Orofacial cleft, Oligodontia, Agenesis of mandibular premolar, Widely spaced teeth, Microdontia, ...	ORPHA:99798
Ectodermal Dysplasia 11B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive	Absent eyebrow, Sparse scalp hair, Absent nipple, Sparse eyelashes, Conical tooth, Absent eyelash...	OMIM:614941
Ectodermal Dysplasia 11A, Hypohidrotic/Hair/Tooth Type, Autosomal Dominant	Brittle hair, Absent nipple, Oligodontia, Everted lower lip vermilion, Hypodontia, Sparse hair, D...	OMIM:614940

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

Disease	Matching phenotypes	Source
Pili Gemini	Abnormal hairshaft morphology, Hair shafts flattened at irregular intervals and twisted through 1...	ORPHA:79492
Ringed Hair	Abnormal hair morphology	OMIM:180600
Hairy Nose Tip	Abnormal hair morphology	OMIM:139630
Discoid Fibromas, Familial Multiple	Abnormal hair morphology	OMIM:190340
Hypotrichosis 15	Sparse scalp hair	OMIM:620177
Hypotrichosis 9	Sparse scalp hair, Sparse body hair	OMIM:614237
Hypotrichosis 2	Sparse scalp hair	OMIM:146520
Hypotrichosis 1	Sparse eyelashes, Sparse axillary hair, Sparse pubic hair, Sparse eyebrow, Abnormality of the nai...	OMIM:605389
Alopecia, Congenital	Sparse hair, Alopecia	OMIM:300042
Alopecia-Intellectual Disability Syndrome 3	Alopecia universalis	OMIM:613930
Alopecia-Intellectual Disability Syndrome 2	Alopecia universalis	OMIM:610422
Alopecia Areata 2	Alopecia of scalp, Patchy alopecia, Alopecia totalis, Alopecia universalis	OMIM:610753
Alopecia Totalis	Alopecia, Alopecia of scalp	ORPHA:700
Alopecia, Familial Focal	Patchy alopecia	OMIM:104110
Alopecia, Androgenetic, 1	Alopecia	OMIM:109200
Alopecia-Intellectual Disability Syndrome 1	Alopecia, Alopecia universalis	OMIM:203650
Hypotrichosis Simplex	Sparse scalp hair, Alopecia, Sparse eyelashes, Sparse eyebrow, Sparse hair, Sparse body hair	ORPHA:55654
Hypertrichosis Lanuginosa Congenita	Congenital, generalized hypertrichosis, Double eyebrow	OMIM:145700
Hypertrichosis, Anterior Cervical	Anterior cervical hypertrichosis	OMIM:600457
Hypertrichosis Universalis Congenita, Ambras Type	Congenital, generalized hypertrichosis	OMIM:145701
Ringed Hair Disease	Abnormal hair pattern, Fine hair	ORPHA:169
Pili Bifurcati	Abnormal hair morphology, Abnormality of hair texture	ORPHA:720
Hypotrichosis 11	Sparse or absent eyelashes, Alopecia universalis, Absent axillary hair, Sparse hair, Aplasia/Hypo...	OMIM:615059
Intermediate Generalized Junctional Epidermolysis Bullosa	Oral mucosal blisters, Scarring alopecia of scalp, Abnormality of skin pigmentation, Growth delay...	ORPHA:79402
Hypotrichosis 4	Sparse scalp hair, Alopecia, Sparse eyelashes, Sparse eyebrow, Uncombable hair, Sparse body hair	OMIM:146550
Hypotrichosis 10	Sparse eyebrow, Sparse eyelashes, Sparse body hair	OMIM:614238
Dermoodontodysplasia	Mandibular prognathia, Sparse scalp hair, Abnormal eyelid morphology, Melanocytic nevus, Tooth ag...	ORPHA:1660
Alopecia Universalis Congenita	Absent eyebrow, Absent eyelashes, Absent pubic hair, Absent axillary hair, Alopecia universalis	OMIM:203655
Null Syndrome	Ataxia, Abnormal cerebellum morphology, Inability to walk, Optic atrophy, CNS hypomyelination, Di...	ORPHA:280234
Alopecia Universalis	Absent eyelashes, Absent eyebrow, Patchy alopecia, Alopecia universalis	ORPHA:701
Atrichia With Papular Lesions	Sparse hair	OMIM:209500
Odonto-Onycho Dysplasia-Alopecia Syndrome	Alopecia, Abnormal dental morphology, Abnormal fingernail morphology, Sparse eyebrow, Hypoplastic...	ORPHA:2722
Spinocerebellar Ataxia Type 43	Peripheral axonal neuropathy, Decreased number of large peripheral myelinated nerve fibers, Unste...	ORPHA:497764
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 4	Cerebellar atrophy, Corpus callosum atrophy, Inability to walk, Truncal ataxia, Cerebral cortical...	OMIM:615268
Paternal 20Q13.2Q13.3 Microdeletion Syndrome	Respiratory distress, Failure to thrive, Lipoatrophy, Micrognathia, Skin dimple, Thin vermilion b...	ORPHA:261304
Spinocerebellar Ataxia 41	Cerebellar atrophy, Ataxia, Unsteady gait, Gait ataxia, Cerebellar vermis atrophy	OMIM:616410
Alopecia-Contractures-Dwarfism Mental Retardation Syndrome	Generalized hypoplasia of dental enamel, Alopecia, Telecanthus, Severe short stature, Carious tee...	OMIM:203550
Alopecia Areata 1	Trachyonychia, Alopecia totalis, Nail pits, Patchy alopecia, Alopecia universalis	OMIM:104000
Trichodysplasia-Amelogenesis Imperfecta Syndrome	Amelogenesis imperfecta, Alopecia of scalp, Trichodysplasia	ORPHA:79129
Anonychia-Microcephaly Syndrome	Carious teeth, Abnormality of the dentition, Anonychia, Aplastic/hypoplastic toenail	ORPHA:1094
Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy	Neonatal respiratory distress, Short stature, Increased connective tissue, Carious teeth, Scarrin...	OMIM:226670
Witkop Syndrome	Ridged nail, Concave nail, Nail pits, Fine hair, Small nail, Sparse hair	OMIM:189500
19Q13.11 Microdeletion Syndrome	Microcornea, Sparse hair, Cryptorchidism, Sparse or absent eyelashes, Aplasia cutis congenita, Re...	ORPHA:217346
Ichthyosis-Hypotrichosis Syndrome	Sparse hair	ORPHA:91132
Ramos-Arroyo Syndrome	Respiratory distress, Sparse scalp hair, Severe short stature, Shoulder dimple, Carious teeth, Da...	ORPHA:1051
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant	Sparse eyelashes, Trichiasis, Sparse eyebrow, Keratitis, Sensorineural hearing impairment, Elbow ...	OMIM:148210
Rapp-Hodgkin Syndrome	Conical tooth, Hypoplasia of the maxilla, Sparse hair, Microdontia, Bifid uvula, Short stature, C...	OMIM:129400
Ectodermal Dysplasia 6, Hair/Nail Type	Sparse hair, Alopecia, Thin toenail, Dystrophic toenail	OMIM:614928
Hypertrichosis, Congenital Generalized	Congenital, generalized hypertrichosis, Hirsutism	OMIM:307150
Woolly Hair, Autosomal Recessive 3	Sparse scalp hair, Curly hair, Sparse eyelashes, Fine hair, Sparse hair, Trichorrhexis nodosa	OMIM:616760
Intellectual Developmental Disorder, X-Linked 97	Synophrys, Macrotia	OMIM:300803
Rothmund-Thomson Syndrome, Type 1	Absent eyebrow, Premature ovarian insufficiency, Short stature, Thin nail, Conical tooth, Absent ...	OMIM:618625
Autosomal Dominant Hypohidrotic Ectodermal Dysplasia	Abnormal dental morphology, Abnormal fingernail morphology, Premature loss of primary teeth, Abno...	ORPHA:1810
Perifolliculitis Capitis Abscedens Et Suffodiens, Familial	Alopecia, Alopecia of scalp	OMIM:260910
Congenital Heart Defects And Ectodermal Dysplasia	Medial flaring of the eyebrow, Sparse scalp hair, Premature loss of primary teeth, Widely spaced ...	OMIM:617364
Self-Improving Dystrophic Epidermolysis Bullosa	Oral mucosal blisters, Carious teeth, Skin erosion, Abnormality of the subungual region, Abnormal...	ORPHA:79411
Spinocerebellar Ataxia Type 5	Cerebellar atrophy, Gait disturbance	ORPHA:98766
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome	Sparse scalp hair, Epicanthus, Telecanthus, Sparse eyelashes, Lipodystrophy, Short stature, Spars...	ORPHA:75496
Agel Amyloidosis	Tongue atrophy, Cataract, Facial palsy, Bilateral ptosis, Cutis laxa, Keratoconjunctivitis sicca,...	ORPHA:85448
Cerebral Palsy, Ataxic, Autosomal Recessive	Cerebellar atrophy, Broad-based gait, Dysdiadochokinesis	OMIM:605388
Neurodegeneration, Childhood-Onset, With Brain Atrophy	Cerebellar atrophy, Ataxia, Inability to walk, Cerebral atrophy, Axonal loss, Cerebral cortical a...	OMIM:617672
Regional Odontodysplasia	Dental enamel pits, Abnormality of dental color, Gingivitis, Eruption failure, Abnormal dental pu...	ORPHA:83450
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia	Mandibular prognathia, Sparse scalp hair, Alopecia, Delayed eruption of teeth, Abnormal fingernai...	ORPHA:2325
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant	Alopecia, Cataract, Sparse eyelashes, Sparse eyebrow, Scarring alopecia of scalp, Carious teeth, ...	OMIM:612843
Leukomelanoderma, Infantilism, Mental Retardation, Hypodontia, Hypotrichosis	Sparse hair, Growth delay, Hypodontia	OMIM:246500
Spinocerebellar Ataxia 45	Cerebellar atrophy, Limb ataxia, Gait ataxia	OMIM:617769
Dermoodontodysplasia	Hypodontia, Nail dysplasia, Thin skin, Dry skin, Trichodysplasia	OMIM:125640
Pseudoprogeria Syndrome	Absent eyebrow, Alopecia, Short stature, Absent eyelashes, Sparse eyebrow, Growth delay, Thin ski...	ORPHA:2985
Graham Little-Piccardi-Lassueur Syndrome	Sparse pubic hair, Sparse scalp hair, Alopecia, Sparse axillary hair	ORPHA:505
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1	Cerebellar atrophy, Decreased number of peripheral myelinated nerve fibers, Peripheral axonal neu...	OMIM:607250
Filippi Syndrome	Postnatal growth retardation, Cryptorchidism, Optic atrophy, Intrauterine growth retardation, Ser...	OMIM:272440
Ectodermal Dysplasia 9, Hair/Nail Type	Concave nail, Absent eyelashes, Atrichia, Nail dystrophy, Nail dysplasia, Sparse hair, Absent hair	OMIM:614931
Erythrokeratodermia Variabilis	Macule, Alopecia, Cataract, Short stature, Hypermelanotic macule, Corneal opacity, Abnormal hair ...	ORPHA:317
Ectodermal Dysplasia-Syndactyly Syndrome 1	Sparse scalp hair, Alopecia, Sparse eyelashes, Absent facial hair, Conical tooth, Hypoplastic toe...	OMIM:613573
Acrogeria	Aplasia/Hypoplasia of the skin, Lipoatrophy, Short stature, Micrognathia, Skin ulcer, Fine hair, ...	ORPHA:2500
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome	Sparse scalp hair, Abnormality of the dentition, Abnormal eyelash morphology, Gingivitis, Melanoc...	ORPHA:1008
Junctional Epidermolysis Bullosa Inversa	Oral mucosal blisters, Carious teeth, Localized skin lesion, Growth delay, Atrophic scars, Palmop...	ORPHA:79405
Epidermolysis Bullosa, Junctional 1A, Intermediate	Plantar hyperkeratosis, Camptodactyly of finger, Oral mucosal blisters, Carious teeth, Patchy alo...	OMIM:226650
Goldberg-Shprintzen Syndrome	Telecanthus, Highly arched eyebrow, Hypoplasia of the maxilla, Synophrys, Corneal erosion, Oligod...	OMIM:609460
Hypohidrotic Ectodermal Dysplasia	Abnormal hair quantity, Sinusitis, Slow-growing hair, Abnormal dental morphology, Abnormality of ...	ORPHA:238468
Charcot-Marie-Tooth Disease, Demyelinating, Type 4F	Decreased number of peripheral myelinated nerve fibers, Broad-based gait, Decreased number of lar...	OMIM:614895
Rubinstein-Taybi Syndrome 2	Epicanthus, Thick eyebrow, Posteriorly rotated ears, Short stature, Highly arched eyebrow, Microg...	OMIM:613684
Bartsocas-Papas Syndrome 1	Skin tags, Cicatricial lagophthalmos, Bilateral cryptorchidism, Hypoplasia of the maxilla, Microg...	OMIM:263650
Leprosy	Urticarial plaque, Abnormality of the spleen, Abnormality of the seventh cranial nerve, Verrucous...	ORPHA:548
Charcot-Marie-Tooth Disease, Dominant Intermediate A	Peripheral axonal neuropathy, Steppage gait, Onion bulb formation, Peripheral demyelination, Axon...	OMIM:620378
Late-Onset Junctional Epidermolysis Bullosa	Oral mucosal blisters, Carious teeth, Localized skin lesion, Growth delay, Atrophic scars, Palmop...	ORPHA:79406
Neurodevelopmental Disorder With Cerebellar Atrophy And Motor Dysfunction	Cerebellar atrophy, Inability to walk, Ataxia	OMIM:619333
Otoonychoperoneal Syndrome	Posteriorly rotated ears, Abnormality of the ear, Low-set ears, Prominent superior crus of antihe...	OMIM:259780
Spinocerebellar Ataxia, Autosomal Recessive 24	Cerebellar atrophy, Spastic gait, Limb ataxia, Gait ataxia	OMIM:617133
Bone Marrow Failure Syndrome 3	Aplastic anemia, Micrognathia, Pancreatic steatosis, Oral ulcer, Downturned corners of mouth, Her...	OMIM:617052
Charcot-Marie-Tooth Disease, Axonal, Type 2Gg	Segmental peripheral demyelination/remyelination, Steppage gait, Difficulty walking, Onion bulb f...	OMIM:606483
Peroxisome Biogenesis Disorder 8B	Cerebellar atrophy, Ataxia, Corpus callosum atrophy, Unsteady gait, Optic atrophy, Dysmetria, Gai...	OMIM:614877
Blepharophimosis-Impaired Intellectual Development Syndrome	Synophrys, Flexion contracture, Low anterior hairline, Short philtrum, Widely spaced teeth, Micro...	OMIM:619293
Cervical Hypertrichosis With Underlying Kyphoscoliosis	Anterior cervical hypertrichosis, Sacral hypertrichosis, Lumbar hypertrichosis, Thoracic hypertri...	OMIM:117850
Charcot-Marie-Tooth Disease, Demyelinating, Type 1I	Cerebellar atrophy, Delayed CNS myelination, Ataxia, Chiari type I malformation, Spastic gait, De...	OMIM:619742
Alopecia-Intellectual Disability-Hypergonadotropic Hypogonadism Syndrome	Alopecia totalis	ORPHA:1014
Trichodentoosseous Syndrome	Abnormal hair morphology, Taurodontia, Widely spaced teeth, Microdontia, Fragile nails	OMIM:190320
Recon Progeroid Syndrome	Smooth philtrum, Attached earlobe, Prominence of the premaxilla, Dental crowding, Short stature, ...	OMIM:620370
Localized Dystrophic Epidermolysis Bullosa, Pretibial Form	Abnormal fingernail morphology, Oral mucosal blisters, Carious teeth, Skin erosion, Localized ski...	ORPHA:79410
Spinocerebellar Ataxia Type 25	Decreased number of large peripheral myelinated nerve fibers, Abnormal cerebellar cortex morpholo...	ORPHA:101111
Ectodermal Dysplasia, Trichoodontoonychial Type	Abnormal dental morphology, Lipoatrophy, Irregular hyperpigmentation of back, Abnormal eyelash mo...	ORPHA:1818
Localized Junctional Epidermolysis Bullosa	Dental enamel pits, Abnormality of dental color, Limb joint contracture, Sparse axillary hair, Sp...	ORPHA:251393
Ectodermal Dysplasia-Syndactyly Syndrome 2	Thin upper lip vermilion, Palmoplantar keratoderma, Follicular hyperkeratosis, Sparse hair, Ename...	OMIM:613576
Gómez-López-Hernández Syndrome	Telecanthus, Short stature, Corneal opacity, Thin vermilion border, Low-set ears, Alopecia of sca...	ORPHA:1532
Dentin Dysplasia, Type I	Pulp obliteration, Periapical bone loss, Oligodontia, Taurodontia, Short dental root, Microdontia...	OMIM:125400
Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, And Facial Dysmorphism	Thin upper lip vermilion, Short stature, Interphalangeal joint contracture of finger, Widow's pea...	OMIM:606242
Uncombable Hair Syndrome	Abnormal hair morphology, White hair, Coarse hair, Patchy alopecia, Trichodysplasia, Woolly hair	ORPHA:1410
Braddock-Carey Syndrome 1	Curly hair, Telecanthus, Posteriorly rotated ears, Pierre-Robin sequence, Cleft palate, Growth de...	OMIM:619980
Anonychia With Flexural Pigmentation	Hypermelanotic macule, Abnormal hair morphology, Carious teeth, Axillary and groin hyperpigmentat...	ORPHA:69125
Macdermot-Winter Syndrome	Posteriorly rotated ears, Highly arched eyebrow, Low anterior hairline, Frontal upsweep of hair, ...	OMIM:247990
Xeroderma Pigmentosum	Conjunctival telangiectasia, Ankyloblepharon, Pterygium, Macule, Alopecia, Short stature, Hyperme...	ORPHA:910
Amelogenesis Imperfecta, Type Ij	Carious teeth, Widely spaced teeth, Increased overbite, Enamel hypoplasia, Amelogenesis imperfecta	OMIM:617297
Spinocerebellar Ataxia 30	Cerebellar atrophy, Ataxia	OMIM:613371
Spinocerebellar Ataxia 31	Cerebellar atrophy, Ataxia, Limb ataxia, Gait ataxia	OMIM:117210
Deaf Blind Hypopigmentation Syndrome, Yemenite Type	Delayed eruption of teeth, Hypopigmentation of hair, Abnormal size of the palpebral fissures, Mac...	ORPHA:3214
Hepatoerythropoietic Porphyria	Hemolytic anemia, Erythrodontia, Scarring, Scarring alopecia of scalp, Erythroid hyperplasia, Los...	ORPHA:95159
Insensitivity To Pain, Congenital, With Anhidrosis	Sparse scalp hair, Keratitis, Corneal scarring, Acral ulceration, Nail dysplasia, Nail dystrophy,...	OMIM:256800
Oculodentodigital Dysplasia, Autosomal Recessive	Dental crowding, Micrognathia, Hypoplasia of the maxilla, Microcornea, Persistent pupillary membr...	OMIM:257850
Charcot-Marie-Tooth Disease, Dominant Intermediate B	Peripheral axonal degeneration, Decreased number of peripheral myelinated nerve fibers, Segmental...	OMIM:606482
Ichthyosis, Congenital, Autosomal Recessive 11	Curly hair, Brittle hair, Sparse eyelashes, Corneal opacity, Curly eyelashes, Sparse eyebrow, Hyp...	OMIM:602400
Focal Facial Dermal Dysplasia Type I	Absent eyelashes, Spotty hyperpigmentation, Low anterior hairline, Spotty hypopigmentation, Downt...	ORPHA:79133
Cranioectodermal Dysplasia	Epicanthus, Abnormal fingernail morphology, Abnormal dental enamel morphology, Rhizomelia, Abnorm...	ORPHA:1515
Hidrotic Ectodermal Dysplasia, Christianson-Fourie Type	Sparse scalp hair, Absent eyebrow, Sparse eyelashes, Sparse axillary hair, Abnormal hair morpholo...	ORPHA:1808
Bazex-Dupré-Christol Syndrome	Sparse scalp hair, Sparse eyebrow, Sparse or absent eyelashes, Coarse hair, Hypoplasia of the ear...	ORPHA:113
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10	Cerebellar dysplasia	OMIM:615041
Prolidase Deficiency	Abnormality of retinal pigmentation, Aplasia/Hypoplasia of the skin, Abnormal fingernail morpholo...	ORPHA:742
Winchester Syndrome	Subcutaneous nodule, Corneal opacity, Gingival overgrowth, Hirsutism	OMIM:277950
Hypotrichosis, Congenital, With Juvenile Macular Dystrophy	Sparse hair, Reduced terminal:vellus ratio, Pili torti	OMIM:601553
Trichothiodystrophy 4, Nonphotosensitive	Epicanthus, Brittle hair, Sparse eyelashes, Abnormality of hair texture, Concave nail, Macrotia, ...	OMIM:234050
Amelogenesis Imperfecta	Abnormality of dental color, Hypomature dental enamel, Enamel hypomineralization, Hypoplasia of t...	ORPHA:88661
Naegeli-Franceschetti-Jadassohn Syndrome	Reticulated skin pigmentation, Palmoplantar hyperkeratosis, Premature loss of teeth, Hypopigmenta...	ORPHA:69087
Kaufman Oculocerebrofacial Syndrome	Micrognathia, Microcornea, High palate, Sparse hair, Neonatal respiratory distress, Short stature...	OMIM:244450
Epidermolysis Bullosa, Junctional 4, Intermediate	Dental enamel pits, Carious teeth, Scarring alopecia of scalp, Nail dystrophy, Dystrophic fingern...	OMIM:619787
Pili Torti-Developmental Delay-Neurological Abnormalities Syndrome	Abnormality of hair texture, Growth delay, Sparse or absent eyelashes, Pili torti, Aplasia/Hypopl...	ORPHA:2891
Charcot-Marie-Tooth Disease, Type 4A	Peripheral axonal degeneration, Decreased number of peripheral myelinated nerve fibers, Hypertrop...	OMIM:214400
De Barsy Syndrome	High palate, Sparse hair, Emphysema, Short stature, Cryptorchidism, Bilateral sensorineural heari...	ORPHA:2962
Ring Chromosome 6 Syndrome	Macrotia, Respiratory insufficiency, Low posterior hairline	ORPHA:1448
Zimmermann-Laband Syndrome	Micrognathia, Large fleshy ears, High palate, Absent fingernail, Bifid uvula, Supernumerary tooth...	ORPHA:3473
17Q11.2 Microduplication Syndrome	Sparse eyelashes, Abnormal dental enamel morphology, Short stature, Sparse eyebrow, Thin vermilio...	ORPHA:139474
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome	Alopecia, Severe short stature, Abnormal dental morphology, Camptodactyly of finger, Hyperpigment...	ORPHA:2251
Mitochondrial Dna Depletion Syndrome 16B (Neuroophthalmic Type)	Cerebellar atrophy, Peripheral axonal neuropathy, Premature ovarian insufficiency, Ataxia, Optic ...	OMIM:619425
Cutis Laxa, Autosomal Recessive, Type Iiib	Inguinal hernia, Cataract, Posteriorly rotated ears, Cryptorchidism, Prominent ear helix, Flexion...	OMIM:614438
Ablepharon Macrostomia Syndrome	Redundant skin, Hypoplasia of the maxilla, Abnormality of skin pigmentation, Sparse hair, Microdo...	ORPHA:920
Hutchinson-Gilford Progeria Syndrome	Dental crowding, Short lingual frenulum, Micrognathia, High palate, Shallow orbits, Conductive he...	ORPHA:740
Cockayne Syndrome	Dry hair, Congenital contracture, Lentiglobus, Abnormal dental morphology, Cerebral dysmyelinatio...	ORPHA:191
Oliver-Mcfarlane Syndrome	Alopecia, Peripheral axonal neuropathy, Small for gestational age, Decreased response to growth h...	OMIM:275400
Cutis Laxa, Autosomal Recessive, Type Iiia	Inguinal hernia, Failure to thrive, Short stature, Cataract, Cryptorchidism, Cutis laxa, Corneal ...	OMIM:219150
Congenital Erythropoietic Porphyria	Anisocytosis, Scarring alopecia of scalp, Leukopenia, Erythroid hyperplasia, Hypopigmentation of ...	ORPHA:79277
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome	Epicanthus, Inguinal hernia, Abnormal dental enamel morphology, Supernumerary nipple, Abnormal ey...	ORPHA:1812
Deafness-Enamel Hypoplasia-Nail Defects Syndrome	Abnormal hair quantity, Abnormal eyebrow morphology, Abnormality of nail color, Abnormal nasolacr...	ORPHA:3220
Trichodysplasia-Xeroderma Syndrome	Sparse scalp hair, Alopecia, Brittle hair, Sparse eyebrow, Sparse body hair, Coarse hair, Trichod...	ORPHA:3361
Pili Torti	Abnormal eyebrow morphology, Alopecia, Brittle hair, Abnormal dental enamel morphology, Abnormali...	ORPHA:2889
Recessive Dystrophic Epidermolysis Bullosa Inversa	Oral mucosal blisters, Carious teeth, Localized skin lesion, Corneal erosion, Growth delay, Atrop...	ORPHA:79409
Intellectual Developmental Disorder, Autosomal Dominant 21	Epicanthus, Sacral dimple, Posteriorly rotated ears, Short stature, Cryptorchidism, Cleft palate,...	OMIM:615502
Epidermolysis Bullosa, Junctional 1B, Severe	Carious teeth, Congenital localized absence of skin, Atrophic scars, Nail dystrophy, Nail dysplas...	OMIM:226700
Cockayne Syndrome Type 3	Optic disc pallor, Dry hair, Peripheral axonal neuropathy, Mild postnatal growth retardation, Cat...	ORPHA:90324
Hidrotic Ectodermal Dysplasia	Slow-growing nails, Palmoplantar hyperkeratosis, Absent pubic hair, Sparse hair, Hyperkeratotic p...	ORPHA:189
Epidermolysis Bullosa Dystrophica, Autosomal Recessive	Alopecia, Cataract, Oral mucosal blisters, Flexion contracture, Corneal scarring, Growth delay, A...	OMIM:226600
Acrofacial Dysostosis, Palagonia Type	Aplasia/Hypoplasia of the skin, Sparse eyelashes, Posteriorly rotated ears, Short stature, Abnorm...	ORPHA:1787
Adult Syndrome	Sparse scalp hair, Premature loss of permanent teeth, Absent nipple, Fair hair, Freckling, Sparse...	OMIM:103285
Amelogenesis Imperfecta, Hypomaturation Type, Iia3	Enamel hypomineralization, Hypomature dental enamel, Amelogenesis imperfecta	OMIM:613211
Marie Unna Hereditary Hypotrichosis	Sparse scalp hair, Alopecia, Sparse or absent eyelashes, Coarse hair, Aplasia/Hypoplasia of the e...	ORPHA:444
Trichothiodystrophy	Ridged nail, Brittle hair, Multiple joint contractures, High, narrow palate, Protruding ear, Micr...	ORPHA:33364
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2	Deep philtrum, Webbed neck, Coarse hair, High palate, Widely spaced teeth, Sparse hair, Thickened...	OMIM:617506
Tooth Agenesis, Selective, 8	Selective tooth agenesis, Sparse eyebrow, Sparse hair, Microdontia, Dry skin	OMIM:617073
Lymphedema-Distichiasis Syndrome	Ptosis, Micrognathia, Yellow nails, Cleft upper lip, Cleft palate, Webbed neck, Corneal ulceratio...	OMIM:153400
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome	Micrognathia, Severe demyelination of the white matter, Synophrys, Low anterior hairline, Downtur...	ORPHA:391408
Oculocerebral Hypopigmentation Syndrome, Cross Type	Hypopigmentation of hair, Inguinal hernia, Iris hypopigmentation, Short stature, Corneal opacity,...	ORPHA:2719
Hypohidrosis-Enamel Hypoplasia-Palmoplantar Keratoderma-Intellectual Disability Syndrome	Carious teeth, Delayed early-childhood social milestone development, Palmoplantar hyperkeratosis,...	ORPHA:363523
Costello Syndrome	Redundant skin, Hypoplastic toenails, Low-set, posteriorly rotated ears, Deep-set nails, Keratoco...	ORPHA:3071
Scarf Syndrome	Low-set, posteriorly rotated ears, Epicanthus, Inguinal hernia, Cryptorchidism, Low posterior hai...	ORPHA:3134
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked	Respiratory distress, Brittle hair, Abnormal oral mucosa morphology, Conical tooth, Hypoplasia of...	OMIM:305100
Syndromic X-Linked Intellectual Disability 7	Abnormal dental morphology, Short stature, Cryptorchidism, Obesity, Hypogonadism, Tooth malpositi...	ORPHA:85274
Hypodontia-Dysplasia Of Nails Syndrome	Delayed eruption of teeth, Abnormal fingernail morphology, Abnormal dental morphology, Abnormalit...	ORPHA:2228
Charcot-Marie-Tooth Disease, Axonal, Type 2A1	Decreased number of peripheral myelinated nerve fibers, Peripheral axonal neuropathy, Facial pals...	OMIM:118210
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form	Smooth tongue, Hypopigmentation of the skin, Alopecia, Aplasia cutis congenita on trunk or limbs,...	ORPHA:79396
Liang-Wang Syndrome	Thin upper lip vermilion, Diastema, Synophrys, Gingival overgrowth, Downturned corners of mouth, ...	OMIM:618729
Chromosome 19Q13.11 Deletion Syndrome, Distal	Micrognathia, Short philtrum, Sparse hair, Aplasia cutis congenita of scalp, Short stature, Spars...	OMIM:613026
Monilethrix	Abnormal eyebrow morphology, Brittle hair, Slow-growing hair, Cataract, Abnormality of the dentit...	ORPHA:573
Glass Syndrome	Dental crowding, Apnea, Micrognathia, Conical tooth, Oligodontia, High palate, Sparse hair, Short...	OMIM:612313
11P15.4 Microduplication Syndrome	Synophrys, Macrotia, Posteriorly rotated ears, Highly arched eyebrow	ORPHA:300305
Charcot-Marie-Tooth Disease, Recessive Intermediate D	Steppage gait, Onion bulb formation	OMIM:616039
Charcot-Marie-Tooth Disease, Demyelinating, Type 1B	Decreased number of peripheral myelinated nerve fibers, Steppage gait, Myelin outfoldings, Onion ...	OMIM:118200
Ramon Syndrome	Delayed eruption of teeth, Abnormality of retinal pigmentation, Abnormal dental enamel morphology...	ORPHA:3019
Neurodevelopmental Disorder With Variable Motor And Language Impairment	Mandibular prognathia, Epicanthus, Delayed CNS myelination, Posteriorly rotated ears, Protruding ...	OMIM:617804
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation	Fragile nails, Abnormality of the dentition, Hearing impairment, Fine hair	ORPHA:500166
Adult Syndrome	Sparse scalp hair, Alopecia, Absent nipple, Abnormal dental morphology, Abnormality of the dentit...	ORPHA:978
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome	Alopecia, Small for gestational age, Decreased response to growth hormone stimulation test, Abnor...	ORPHA:3363
Clouston Syndrome	Alopecia, Brittle hair, Sparse eyelashes, Alopecia totalis, Slow-growing hair, Abnormality of the...	OMIM:129500
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia	Alopecia, Abnormal dental morphology, Abnormal fingernail morphology, Premature loss of primary t...	ORPHA:248
Premature Aging Syndrome, Penttinen Type	Micrognathia, Hypoplasia of the maxilla, Palmoplantar hyperkeratosis, Shallow orbits, Sparse hair...	OMIM:601812
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome	Preauricular pit, Epicanthus, Alopecia, Short stature, Accessory oral frenulum, Hyperpigmented pa...	ORPHA:88630
Short Syndrome	Abnormal pupil morphology, Hypoplasia of the iris, Sparse hair, Microdontia, Megalocornea, Abnorm...	ORPHA:3163
Lowry-Maclean Syndrome	Inguinal hernia, Corneal opacity, Delayed eruption of primary teeth, Micrognathia, Bilateral cryp...	ORPHA:2409
Lower Limb Malformation-Hypospadias Syndrome	Low-set, posteriorly rotated ears, Macrotia, Respiratory insufficiency	ORPHA:2487
Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy	Alopecia, Onychogryposis of toenails, Alopecia of scalp, Sparse body hair, Dystrophic toenail	OMIM:617294
Autosomal Dominant Deafness-Onychodystrophy Syndrome	Abnormality of the dentition, Hypoplastic toenails, Absent thumbnail, Oligodontia, Absent toenail...	ORPHA:79499
Amelogenesis Imperfecta, Hypomaturation Type, Iia5	Carious teeth, Amelogenesis imperfecta, Nail dysplasia, Yellow-brown discoloration of the teeth	OMIM:615887
Mandibuloacral Dysplasia	Loss of subcutaneous adipose tissue in limbs, Alopecia, Dental crowding, Lipoatrophy, Increased s...	ORPHA:2457
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb	Thin upper lip vermilion, Failure to thrive, Sparse eyelashes, Short stature, Sparse eyebrow, Bil...	OMIM:618874
Uncombable Hair Syndrome 2	Uncombable hair, Juvenile cataract, Pili canaliculi	OMIM:617251
Dyskeratosis Congenita	Abnormality of neutrophils, Hypoplasia of the maxilla, White hair, Premature graying of hair, Per...	ORPHA:1775
Intellectual Disability, Birk-Barel Type	Sacral dimple, Tented upper lip vermilion, Foot joint contracture, Highly arched eyebrow, Microgn...	ORPHA:166108
Oculoskeletodental Syndrome	Epicanthus, Short stature, Abnormality of the dentition, Conductive hearing impairment, Sensorine...	ORPHA:557003
Charcot-Marie-Tooth Disease, Demyelinating, Type 1F	Decreased number of peripheral myelinated nerve fibers, Segmental peripheral demyelination/remyel...	OMIM:607734
Ceroid Lipofuscinosis, Neuronal, 8	Cerebellar atrophy, Ataxia, Increased neuronal autofluorescent lipopigment, Cerebral atrophy, Los...	OMIM:600143
Brittle Cornea Syndrome 1	Keratoconus, Epicanthus, Atypical scarring of skin, Keratoglobus, Abnormal cornea morphology, Mol...	OMIM:229200
Hamamy Syndrome	Micrognathia, Microcytic anemia, High palate, Sparse hair, Abnormal number of hair whorls, Hypopa...	OMIM:611174
Mandibuloacral Dysplasia With Type A Lipodystrophy	Abnormal eyebrow morphology, Alopecia, Cataract, Short stature, Abnormality of the dentition, Abs...	ORPHA:90153
Tietz Syndrome	Hypopigmentation of hair, White eyebrow, Abnormality of skin pigmentation, Abnormal anterior cham...	ORPHA:42665
Eec Syndrome	Decreased response to growth hormone stimulation test, Orofacial cleft, Coarse hair, Hypoplasia o...	ORPHA:1896
Osteopenia And Sparse Hair	Sparse hair	OMIM:259690
Ectodermal Dysplasia 4, Hair/Nail Type	Absent eyebrow, Alopecia, Brittle hair, Absent eyelashes, Onycholysis, Nail dystrophy, Sparse bod...	OMIM:602032
Distal Duplication 6P	Abnormal hair quantity, Sacral dimple, Cataract, Short stature, Micrognathia, Abnormal eyelash mo...	ORPHA:1745
Cutaneous Telangiectasia And Cancer Syndrome, Familial	Ridged nail, Alopecia, Yellow nails, Carious teeth, Conical incisor, Onycholysis, Nail dystrophy,...	OMIM:614564
Angioma Serpiginosum, X-Linked	Sparse hair, Nail dystrophy, Fine hair	OMIM:300652
Acute Inflammatory Demyelinating Polyradiculoneuropathy	Acute demyelinating polyneuropathy, Unsteady gait, Onion bulb formation, Gait ataxia	ORPHA:98916
Hypertrichosis Lanuginosa Congenita	Delayed eruption of teeth, Abnormality of the dentition, Gingival overgrowth, Abnormality of skin...	ORPHA:2222
Roussy-Levy Hereditary Areflexic Dystasia	Decreased number of peripheral myelinated nerve fibers, Onion bulb formation, Segmental periphera...	OMIM:180800
Progeroid Syndrome, Petty Type	Mandibular prognathia, Brittle hair, Redundant skin, Sparse hair, Abnormality of the nail, Genera...	ORPHA:2963
Developmental And Epileptic Encephalopathy 66	Thin upper lip vermilion, Cryptorchidism, Synophrys, Downturned corners of mouth, Wide mouth, Ast...	OMIM:618067
Noonan Syndrome 5	Mandibular prognathia, Curly hair, Epicanthus, Short stature, Nevus, Large for gestational age, S...	OMIM:611553
Chronic Inflammatory Demyelinating Polyneuropathy	Segmental peripheral demyelination/remyelination, Unsteady gait, Falls, Difficulty walking, Perip...	ORPHA:2932
Crandall Syndrome	Alopecia, Brittle hair, Fine hair, Hypogonadism, Sparse body hair, Abnormal testis morphology, Pi...	ORPHA:202
Leopard Syndrome 2	Mandibular prognathia, Curly hair, Epicanthus, Short stature, Thick lower lip vermilion, Dry skin...	OMIM:611554
Charcot-Marie-Tooth Disease, Dominant Intermediate F	Steppage gait, Onion bulb formation, Peripheral demyelination, Axonal regeneration	OMIM:615185
Trichothiodystrophy 3, Photosensitive	Natal tooth, Delayed CNS myelination, Brittle hair, Short stature, Cataract, Hearing impairment, ...	OMIM:616395
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome	Brittle hair, Sparse eyelashes, Abnormality of the philtrum, Abnormality of hair texture, Sparse ...	OMIM:225060
Hypotrichosis 7	Sparse scalp hair, Brittle hair, Sparse eyelashes, Sparse axillary hair, Abnormal sweat gland mor...	OMIM:604379
Oculodentodigital Dysplasia	Dry hair, Selective tooth agenesis, Microcornea, High palate, Joint contracture of the 5th finger...	OMIM:164200
Charcot-Marie-Tooth Disease, Demyelinating, Type 1A	Decreased number of peripheral myelinated nerve fibers, Onion bulb formation, Segmental periphera...	OMIM:118220
Hypotrichosis 8	Ridged nail, Sparse scalp hair, Dry hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow,...	OMIM:278150
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome	Underdeveloped superior crus of antihelix, Micrognathia, Microcytic anemia, Protruding ear, Abnor...	ORPHA:293967
Hypertrophic Neuropathy Of Dejerine-Sottas	Decreased number of peripheral myelinated nerve fibers, Onion bulb formation, Broad-based gait, S...	OMIM:145900
Hidrotic Ectodermal Dysplasia, Halal Type	Sparse scalp hair, Absent eyebrow, Abnormal fingernail morphology, Supernumerary nipple, Absent e...	ORPHA:1809
Lacrimoauriculodentodigital Syndrome	Micrognathia, Orofacial cleft, Conductive hearing impairment, Microdontia, Abnormal salivary glan...	ORPHA:2363
Ectodermal Dysplasia 10A, Hypohidrotic/Hair/Nail Type, Autosomal Dominant	Ridged nail, Sparse eyelashes, Slow-growing hair, Sparse eyebrow, Fine hair, Hypodontia, Sparse h...	OMIM:129490
Otodental Syndrome	Delayed eruption of teeth, High-frequency sensorineural hearing impairment, Cataract, Abnormal de...	ORPHA:2791
Short Syndrome	Micrognathia, Downturned corners of mouth, Megalocornea, Absence of subcutaneous fat, Ovarian cys...	OMIM:269880
Rothmund-Thomson Syndrome, Type 2	Mandibular prognathia, Micrognathia, Premature graying of hair, Microcornea, High palate, Sparse ...	OMIM:268400
Hereditary Acrokeratotic Poikiloderma	Gingivitis, Palmoplantar hyperkeratosis, Dystrophic fingernails, Papule, Short stature, Open bite...	ORPHA:2907
Trichothiodystrophy 9, Nonphotosensitive	Epicanthus, Sparse eyebrow, High, narrow palate, Dental malocclusion, Nail dystrophy, Sparse hair...	OMIM:619692
Charcot-Marie-Tooth Disease, Axonal, Type 2I	Decreased number of peripheral myelinated nerve fibers, Steppage gait, Axonal degeneration/regene...	OMIM:607677
Cockayne Syndrome A	Mandibular prognathia, Dry hair, Abnormal peripheral myelination, Abnormality of skin pigmentatio...	OMIM:216400
Amelogenesis Imperfecta, Hypomaturation Type, Iia1	Carious teeth, Enamel hypomineralization, Anterior open-bite malocclusion, Yellow-brown discolora...	OMIM:204700
Pili Torti-Onychodysplasia Syndrome	Absent eyebrow, Alopecia, Brittle hair, Abnormal pinna morphology, Absent eyelashes, Cleft lip, C...	ORPHA:2890
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities	Failure to thrive, Delayed CNS myelination, Short stature, Highly arched eyebrow, Abnormality of ...	OMIM:615802
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Tented upper lip vermilion, Synophrys, Oligodontia, Prominence of the zygomatic bone, Small earlo...	ORPHA:364577
Spastic Paraplegia With Neuropathy And Poikiloderma	Absent eyebrow, Demyelinating sensory neuropathy, Absent eyelashes, Demyelinating motor neuropath...	OMIM:182815
Uncombable Hair Syndrome 3	Uncombable hair, Curly hair, Brittle hair, Pili canaliculi	OMIM:617252
Tangier Disease	Peripheral axonal neuropathy, Cicatricial ectropion, Splenomegaly, Facial diplegia, Nail dystroph...	OMIM:205400
Cockayne Syndrome Type 2	Mandibular prognathia, Scarring, Delayed eruption of primary teeth, Hearing impairment, Hypermela...	ORPHA:90322
Charcot-Marie-Tooth Disease, Axonal, Type 2H	Decreased number of peripheral myelinated nerve fibers, Steppage gait, Axonal regeneration	OMIM:607731
Spinocerebellar Ataxia 11	Cerebellar atrophy, Limb ataxia, Gait ataxia, Progressive cerebellar ataxia, Gait imbalance, Trun...	OMIM:604432
Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant	Ataxia, Symmetric peripheral demyelination, Corpus callosum atrophy, Abnormal cerebellum morpholo...	OMIM:169500
Autosomal Recessive Generalized Epidermolysis Bullosa Simplex	Ridged nail, Aplasia cutis congenita on trunk or limbs, Abnormal fingernail morphology, Hyperpigm...	ORPHA:89838
Intellectual Developmental Disorder, X-Linked 45	Macrotia, Protruding ear	OMIM:300498
Scarf Syndrome	Epicanthus, Inguinal hernia, Posteriorly rotated ears, Cryptorchidism, Low anterior hairline, Low...	OMIM:312830
Tricho-Retino-Dento-Digital Syndrome	Abnormality of retinal pigmentation, Abnormality of the dentition, Supernumerary tooth, Oligodont...	ORPHA:1264
Familial Partial Lipodystrophy, Dunnigan Type	Loss of subcutaneous adipose tissue in limbs, Aplasia/Hypoplasia of the skin, Lipodystrophy, Lipo...	ORPHA:2348
Aredyld Syndrome	Mandibular prognathia, Smooth philtrum, Craniofacial hyperostosis, Low-set, posteriorly rotated e...	ORPHA:1133
Tooth Agenesis, Selective, 4	Sparse scalp hair, Sparse eyebrow, Abnormality of primary teeth, Agenesis of permanent teeth, Too...	OMIM:150400
Acrokeratoderma, Hereditary Papulotranslucent	Skin plaque, Papule, Fine hair	OMIM:101840
Microcephalic Primordial Dwarfism, Toriello Type	Severe short stature, Cataract, Downturned corners of mouth, Neutropenia, Intrauterine growth ret...	ORPHA:2643
Brachycephaly, Trichomegaly, And Developmental Delay	Epicanthus, Brittle hair, Short stature, Highly arched eyebrow, Synophrys, Supernumerary tooth, S...	OMIM:617412
Ectodermal Dysplasia-Blindness Syndrome	Cataract, Abnormal fingernail morphology, Short stature, Corneal dystrophy, Abnormality of the de...	ORPHA:1806
Oligodontia	Orofacial cleft, Oligodontia, Agenesis of mandibular premolar, Widely spaced teeth, Microdontia, ...	ORPHA:99798
Focal Dermal Hypoplasia	Congenital diaphragmatic hernia, Subcutaneous nodule, Abnormality of skin pigmentation, Hypoplasi...	ORPHA:2092
Odontoonychodermal Dysplasia	Ridged nail, Dry hair, Palmoplantar hyperkeratosis, Conical incisor, Widely spaced primary teeth,...	OMIM:257980
Specific Granule Deficiency 2	Absent neutrophil specific granules, Abnormal pinna morphology, Posteriorly rotated ears, Conical...	OMIM:617475
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome	Micrognathia, Synophrys, Palmoplantar hyperkeratosis, Protruding ear, Sparse hair, Dystrophic fin...	ORPHA:3253
Congenital Cataracts, Facial Dysmorphism, And Neuropathy	Peripheral axonal degeneration, Hypogonadotropic hypogonadism, Hypergonadotropic hypogonadism, Sh...	OMIM:604168
Charcot-Marie-Tooth Disease, Demyelinating, Type 1C	Onion bulb formation, Ataxia, Segmental peripheral demyelination/remyelination, Gait ataxia, Hype...	OMIM:601098
Tooth Agenesis, Selective, 3	Oligodontia of primary teeth, Agenesis of permanent molar, Abnormal fingernail morphology, Abnorm...	OMIM:604625
Rothmund-Thomson Syndrome	Aplastic anemia, Selective tooth agenesis, Neutropenia, Sparse hair, Microdontia, Juvenile catara...	ORPHA:2909
Charcot-Marie-Tooth Disease, Type 4H	Decreased number of peripheral myelinated nerve fibers, Waddling gait, Unsteady gait, Peripheral ...	OMIM:609311
Charcot-Marie-Tooth Disease, X-Linked Recessive, 5	Optic atrophy, Onion bulb formation, Gait disturbance, Segmental peripheral demyelination/remyeli...	OMIM:311070
Weaver Syndrome	Low-set, posteriorly rotated ears, Deep-set nails, Inguinal hernia, Abnormal fingernail morpholog...	ORPHA:3447
Hypotrichosis-Lymphedema-Telangiectasia Syndrome	Sparse scalp hair, Alopecia, Absent eyebrow, Palpebral edema, Abnormal sweat gland morphology, Ab...	OMIM:607823
Trichodental Dysplasia	Brittle hair, Slow-growing hair, Odontodysplasia, Conical tooth, Fine hair, Hypodontia, Sparse hair	OMIM:601453
Trisomy 4P	Smooth philtrum, Low-set, posteriorly rotated ears, Short stature, Camptodactyly of finger, Abnor...	ORPHA:1738
Conductive Deafness-Ptosis-Skeletal Anomalies Syndrome	Epicanthus, Abnormal dental enamel morphology, Conductive hearing impairment, Fine hair, Aplasia/...	ORPHA:3236
Mulibrey Nanism	Dental crowding, Short stature, Corneal dystrophy, Absent frontal sinuses, Hypoplastic frontal si...	OMIM:253250
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 2	Sparse scalp hair, Short stature, Hydrocele testis, Notched primary central incisor, Low-set ears...	OMIM:620062
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies	Cataract, Conical tooth, Persistence of primary teeth, Scarring alopecia of scalp, Dental maloccl...	OMIM:618727
Griscelli Syndrome, Type 1	Accumulation of melanosomes in melanocytes, White eyelashes, White eyebrow, Silver-gray hair, Lar...	OMIM:214450
Otoonychoperoneal Syndrome	Underfolded helix, Aplasia/Hypoplasia of the earlobes, Abnormal antihelix morphology, Abnormal he...	ORPHA:2793
Amelogenesis Imperfecta, Type Ia	Dental enamel pits, Taurodontia, Generalized microdontia, Enamel hypoplasia, Amelogenesis imperfecta	OMIM:104530
Monilethrix	Alopecia, Brittle hair, Abnormality of hair texture, Nail dystrophy, Nail dysplasia, Sparse hair	OMIM:158000
48,Xxyy Syndrome	Delayed eruption of teeth, Broad jaw, Epicanthus, Inguinal hernia, Hypergonadotropic hypogonadism...	ORPHA:10
Amelogenesis Imperfecta, Type Iiib	Enamel hypomineralization, Amelogenesis imperfecta	OMIM:617607
Schopf-Schulz-Passarge Syndrome	Ridged nail, Narrow nail, Thin nail, Poroma, Multiple eyelid margin cysts, Hyperkeratosis, Palmop...	OMIM:224750
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2	Epicanthus, Small for gestational age, Short stature, Micrognathia, Cryptorchidism, Sensorineural...	OMIM:616817
Tricho-Dento-Osseous Syndrome	Abnormal hair quantity, Dental enamel pits, Periapical tooth abscess, Enamel hypomineralization, ...	ORPHA:3352
Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia	Aplasia cutis congenita on trunk or limbs, Oral mucosal blisters, Atrophic scars, Nail dystrophy,...	OMIM:226730
Hypotrichosis Simplex Of The Scalp	Abnormal eyebrow morphology, Sparse scalp hair, Parakeratosis, Absent facial hair, Allergic rhini...	ORPHA:90368
Woolly Hair	Hypopigmentation of hair, Brittle hair, Slow-growing hair, Cataract, Abnormality of hair texture,...	ORPHA:170
Hall-Riggs Syndrome	Epicanthus, Thick lower lip vermilion, Microdontia of primary teeth, Hypoplasia of the primary te...	OMIM:234250
Amelogenesis Imperfecta, Hypomaturation Type, Iia6	Anterior open-bite malocclusion, Enamel hypomineralization, Amelogenesis imperfecta	OMIM:617217
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Hypoparathyroidism, Alopecia, Premature ovarian insufficiency, Female hypogonadism, Cataract, Asp...	OMIM:240300
Johnson Neuroectodermal Syndrome	Absent eyebrow, Alopecia, Severe short stature, Facial palsy, Absent eyelashes, Carious teeth, Co...	ORPHA:2316
Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness	Peripheral axonal degeneration, Unsteady gait, Impaired tandem gait, Axonal loss, Clusters of axo...	ORPHA:101097
Epidermolysis Bullosa Simplex With Mottled Pigmentation	Alopecia, Plantar hyperkeratosis, Hypermelanotic macule, Mixed hypo- and hyperpigmentation of the...	ORPHA:79397
Focal Facial Dermal Dysplasia Type Iii	Epicanthus, Aplasia/Hypoplasia of the skin, Sparse lower eyelashes, Redundant skin, Abnormal hair...	ORPHA:1807
Griscelli Syndrome, Type 3	Silver-gray hair, Large clumps of pigment irregularly distributed along hair shaft, White eyelashes	OMIM:609227
48,Xyyy Syndrome	Epicanthus, Asthma, Thick lower lip vermilion, Irregularly spaced teeth, Azoospermia, High palate...	ORPHA:99329
Trichothiodystrophy 1, Photosensitive	Brittle hair, Flexion contracture, Protruding ear, Microcornea, Sparse hair, Tiger tail banding, ...	OMIM:601675
Subacute Inflammatory Demyelinating Polyneuropathy	Symmetric peripheral demyelination, Demyelinating motor neuropathy, Choreoathetosis, Axonal loss,...	ORPHA:206594
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1	Absence of Stensen duct, Decreased response to growth hormone stimulation test, Selective tooth a...	OMIM:129900
Orofacial Cleft 15	Agenesis of lateral incisor, Bilateral cleft palate, Epicanthus, Sparse eyelashes, Bilateral clef...	OMIM:616788
Xq27.3Q28 Duplication Syndrome	Short stature, Cryptorchidism, Truncal obesity, Thin vermilion border, Hypogonadism, Sparse body ...	ORPHA:261483
Dentin Dysplasia, Type Ii	Dentinogenesis imperfecta limited to primary teeth, Pulp calcification, Thistle tube shaped pulp	OMIM:125420
Ectodermal Dysplasia/Short Stature Syndrome	Delayed eruption of teeth, Short stature, Sensorineural hearing impairment, Asthma, Hyperkeratosi...	OMIM:616029
Neurodevelopmental Disorder With Speech Delay And Variable Ocular Anomalies	Mandibular prognathia, Thin upper lip vermilion, Epicanthus, Short stature, Hearing impairment, S...	OMIM:619989
Oculodentodigital Dysplasia	Mandibular prognathia, Brittle hair, Micrognathia, Microcornea, Conductive hearing impairment, Sp...	ORPHA:2710
Cerebellar Ataxia-Ectodermal Dysplasia Syndrome	Inguinal hernia, Cryptorchidism, Fine hair, Hypodontia, Sparse hair, Microdontia	ORPHA:1174
Stuve-Wiedemann Syndrome 1	Apnea, Micrognathia, Knee flexion contracture, Blotching pigmentation of the skin, Smooth tongue,...	OMIM:601559
2Q32Q33 Microdeletion Syndrome	Dental crowding, Short stature, Micrognathia, Cleft palate, Fine hair, Growth delay, Oligodontia,...	ORPHA:251019
Gordon Holmes Syndrome	Cerebellar atrophy, Hypogonadotropic hypogonadism, Ataxia, Primary amenorrhea, Cerebral atrophy, ...	OMIM:212840
Leopard Syndrome 3	Few cafe-au-lait spots, Curly hair, Numerous nevi, Posteriorly rotated ears, Short stature, Epide...	OMIM:613707
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3	Delayed eruption of teeth, Short stature, Camptodactyly of finger, Moderately short stature, Ciga...	OMIM:612350
Mitochondrial Dna Depletion Syndrome 7 (Hepatocerebral Type)	Cerebellar atrophy, Ataxia, Hypergonadotropic hypogonadism, Decreased number of large peripheral ...	OMIM:271245
Flynn-Aird Syndrome	Alopecia, Cataract, Carious teeth, Hyperkeratosis, Dermal atrophy, Progressive sensorineural hear...	OMIM:136300
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Alopecia, Parakeratosis, Sparse eyelashes, Thick hair, Sparse eyebrow, Splenomegaly, Orthokeratos...	OMIM:607626
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1	Cerebellar atrophy, Peripheral axonal degeneration, Decreased number of peripheral myelinated ner...	OMIM:302800
Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome	Thin upper lip vermilion, Epicanthus, Optic nerve hypoplasia, Hyperopic astigmatism, Micrognathia...	ORPHA:363686
Charcot-Marie-Tooth Disease, Type 4K	Axonal loss, Ataxia, Peripheral demyelination, Difficulty walking	OMIM:616684
Charcot-Marie-Tooth Disease, Demyelinating, Type 1G	Steppage gait, Onion bulb formation, Peripheral demyelination, Difficulty walking	OMIM:618279
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2	Brittle hair, Dental crowding, Postnatal growth retardation, Tracheobronchomalacia, Pierre-Robin ...	OMIM:619184
Spinocerebellar Ataxia 18	Cerebellar atrophy, Dysmetria, Dysdiadochokinesis, Progressive gait ataxia, Sensory axonal neurop...	OMIM:607458
Tetraamelia With Ectodermal Dysplasia And Lacrimal Duct Abnormalities	Preauricular pit, Absent lacrimal punctum, Sacral dimple, Hypoplastic lacrimal duct, Cryptorchidi...	OMIM:273390
Cerebellofaciodental Syndrome	Cataract, Short stature, Sparse eyebrow, Cryptorchidism, Preauricular skin tag, Dental malocclusi...	OMIM:616202
Hypotrichosis 13	Sparse hair, Woolly hair, Sparse eyelashes, Abnormal sweat gland morphology	OMIM:615896
Congenital Heart Defects And Skeletal Malformations Syndrome	Medial flaring of the eyebrow, Dental crowding, Short stature, Congenital diaphragmatic hernia, R...	OMIM:617602
Cardiocranial Syndrome, Pfeiffer Type	Low-set, posteriorly rotated ears, Contracture of the proximal interphalangeal joint of the 2nd f...	ORPHA:2872
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome	Alopecia, Cataract, Corneal opacity, Hypopigmentation of hair, Aplasia/Hypoplasia of the iris, Pe...	ORPHA:1067
Dentinogenesis Imperfecta, Shields Type Iii	Dental enamel pits, Odontodysplasia, Periapical bone loss, Anterior open-bite malocclusion, Denti...	OMIM:125500
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis	Mandibular prognathia, Microretrognathia, Inguinal hernia, Hip contracture, Short stature, Hearin...	OMIM:618363
Charcot-Marie-Tooth Disease, Recessive Intermediate A	Decreased number of large peripheral myelinated nerve fibers, Steppage gait, Onion bulb formation...	OMIM:608340
Microcephalic Primordial Dwarfism, Montreal Type	Abnormal hair quantity, Low-set, posteriorly rotated ears, Severe short stature, Lipoatrophy, Mic...	ORPHA:2617
Autosomal Spastic Paraplegia Type 58	Cerebellar atrophy, Spastic ataxia, Unsteady gait, Dysmetria, Gait ataxia, Cerebral atrophy, Tip-...	ORPHA:397946
Hair Defect With Photosensitivity And Mental Retardation	Brittle hair, Sparse eyelashes, Sparse eyebrow, Coarse hair, Sparse hair	OMIM:234030
Cerebellar-Facial-Dental Syndrome	Inguinal hernia, Severe short stature, Foot joint contracture, Infancy onset short-trunk short st...	ORPHA:444072
Amelo-Onycho-Hypohidrotic Syndrome	Delayed eruption of teeth, Abnormality of dental color, Abnormal dental morphology, Abnormal dent...	ORPHA:1028
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome	Hypopigmentation of hair, Short stature, Albinism, Pallor, Hypopigmentation of the skin	ORPHA:2786
Pfeiffer-Palm-Teller Syndrome	Epicanthus, Abnormal pinna morphology, Short stature, Blepharophimosis, Enamel hypoplasia	ORPHA:2871
Cerebroretinal Microangiopathy With Calcifications And Cysts 1	Dermal translucency, Short stature, Postnatal growth retardation, Thrombocytopenia, Optic atrophy...	OMIM:612199
Arthrogryposis And Ectodermal Dysplasia	Absent eyebrow, Entropion, Short stature, Abnormal dental enamel morphology, Trichiasis, Cleft up...	OMIM:601701
Otodental Dysplasia	Delayed eruption of teeth, Agenesis of premolar, Sensorineural hearing impairment, Tooth ankylosi...	OMIM:166750
Trichothiodystrophy 8, Nonphotosensitive	Thin upper lip vermilion, Delayed CNS myelination, Sparse eyebrow, Protruding ear, Cutis laxa, Lo...	OMIM:619691
Gand Syndrome	Thin upper lip vermilion, Blepharophimosis, Wide mouth, Narrow palpebral fissure, Short philtrum,...	OMIM:615074
Spinocerebellar Ataxia, Autosomal Recessive 16	Cerebellar atrophy, Unsteady gait, Limb ataxia, Hypogonadism, Cerebellar hypoplasia, Truncal ataxia	OMIM:615768
Nicolaides-Baraitser Syndrome	Smooth philtrum, Alopecia, Severe short stature, Curly eyelashes, Highly arched eyebrow, Abnormal...	ORPHA:3051
Koolen-De Vries Syndrome	High, narrow palate, Protruding ear, Microdontia, Short stature, Abnormal dental enamel morpholog...	ORPHA:96169
Tonne-Kalscheuer Syndrome	Short stature, Congenital diaphragmatic hernia, Micrognathia, Shyness, Cryptorchidism, Velopharyn...	OMIM:300978
Charcot-Marie-Tooth Disease, Type 4C	Peripheral axonal degeneration, Greater auricular nerve thickening, Facial palsy, Decreased numbe...	OMIM:601596
Noonan Syndrome 4	Curly hair, Epicanthus, Posteriorly rotated ears, Short stature, Large for gestational age, Spars...	OMIM:610733
Arthrochalasia Ehlers-Danlos Syndrome	Epicanthus, Inguinal hernia, Femoral hernia, Abnormality of subcutaneous fat tissue, Scarring, Mi...	ORPHA:1899
Mandibulofacial Dysostosis With Macroblepharon And Macrostomia	Smooth philtrum, Posteriorly rotated ears, Corneal opacity, Micrognathia, Keratitis, Synophrys, W...	OMIM:602562
Neurodegeneration With Brain Iron Accumulation 8	Cerebellar atrophy, Ataxia, Unsteady gait, Dysmetria, Loss of ambulation	OMIM:617917
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome	Sparse scalp hair, Sparse eyelashes, Abnormal dental enamel morphology, Sparse eyebrow, Scarring ...	ORPHA:59303
Eem Syndrome	Sparse scalp hair, Absent eyebrow, Abnormality of retinal pigmentation, Abnormal dental morpholog...	ORPHA:1897
Spinocerebellar Ataxia 46	Cerebellar atrophy, Limb ataxia, Dysmetria, Gait ataxia, Sensory axonal neuropathy	OMIM:617770
Hall-Riggs Syndrome	Delayed eruption of teeth, Epicanthus, Slow-growing hair, Thick hair, Abnormal dental enamel morp...	ORPHA:2107
Amelogenesis Imperfecta, Type Iiia	Anterior open-bite malocclusion, Dental malocclusion, Amelogenesis imperfecta	OMIM:130900
Leukomelanoderma-Infantilism-Intellectual Disability-Hypodontia-Hypotrichosis Syndrome	Delayed eruption of teeth, Abnormal eyebrow morphology, Short stature, Decreased fertility, Palmo...	ORPHA:1816
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum	Micrognathia, Narrow mouth, Synophrys, Macrotia, Obesity, Narrow palate, Fine hair, Upslanted pal...	OMIM:620250
Acrodermatitis Enteropathica	Glossitis, Abnormal eyebrow morphology, Alopecia, Ridged nail, Short stature, Abnormal eyelid mor...	ORPHA:37
Sjogren-Larsson Syndrome	Short stature, Opacification of the corneal epithelium, Flexion contracture, Astigmatism, CNS dem...	OMIM:270200
Rothmund-Thomson Syndrome Type 1	Aplastic anemia, Facial erythema, Neutropenia, Sparse hair, Microdontia, Juvenile cataract, Hypop...	ORPHA:221008
Incontinentia Pigmenti	Ridged nail, Conical tooth, Abnormality of skin pigmentation, Coarse hair, Oligodontia, Pallor, S...	OMIM:308300
Aredyld	Mandibular prognathia, Generalized hypotrichosis	OMIM:207780
Woolly Hair Nevus	Curly hair, Patchy hypopigmentation of hair, Fine hair, Persistent pupillary membrane, Woolly sca...	ORPHA:79414
Uncombable Hair Syndrome 1	Uncombable hair, Dry hair, Pili canaliculi	OMIM:191480
Congenital Heart Defect-Round Face-Developmental Delay Syndrome	Hypopigmentation of hair, Generalized hyperpigmentation, Short stature, Narrow mouth, Abnormal or...	ORPHA:1355
Cohen Syndrome	Bone spicule pigmentation of the retina, Small for gestational age, Decreased response to growth ...	OMIM:216550
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11	Dyspnea, Woolly hair, Palmoplantar keratoderma	OMIM:610476
Trichorhinophalangeal Syndrome Type 2	Low-set, posteriorly rotated ears, Sparse scalp hair, Thick eyebrow, Thin upper lip vermilion, Sh...	ORPHA:502
Cockayne Syndrome B	Mandibular prognathia, Dry hair, Abnormal peripheral myelination, Abnormality of skin pigmentatio...	OMIM:133540
Hypogonadotropic Hypogonadism 7 With Or Without Anosmia	Hypogonadotropic hypogonadism, Sparse axillary hair, Sparse pubic hair, Cryptorchidism, Primary a...	OMIM:146110
Amelogenesis Imperfecta, Type Ic	Enamel hypomineralization, Anterior open-bite malocclusion, Taurodontia, Yellow-brown discolorati...	OMIM:204650
Vitamin D-Dependent Rickets, Type 2A	Delayed eruption of teeth, Epicanthus, Carious teeth, Growth delay, Secondary hyperparathyroidism...	OMIM:277440
Charcot-Marie-Tooth Disease, Type 4B2	Decreased number of peripheral myelinated nerve fibers, Segmental peripheral demyelination/remyel...	OMIM:604563
Spastic Ataxia, Charlevoix-Saguenay Type	Progressive truncal ataxia, Spastic ataxia, Ataxia, Decreased number of large peripheral myelinat...	OMIM:270550
Zellweger-Like Syndrome Without Peroxisomal Anomalies	Epicanthus, Alopecia, Brittle hair, Short stature, Upslanted palpebral fissure, High palate, Intr...	ORPHA:50812
Cutis Laxa, Autosomal Recessive, Type Iia	Inguinal hernia, Brittle hair, Lipodystrophy, Redundant skin, Abnormality of hair texture, Cariou...	OMIM:219200
11Q22.2Q22.3 Microdeletion Syndrome	Thin upper lip vermilion, Epicanthus, Posteriorly rotated ears, Hyperpigmentation of the skin, Mi...	ORPHA:444002
Congenital Ichthyosiform Erythroderma	Alopecia, Ectropion, Short stature, Keratitis, Corneal erosion, Palmoplantar keratoderma, Failure...	ORPHA:79394
Oculocerebrocutaneous Syndrome	Skin tags, Alopecia, Aplasia/Hypoplasia of the skin, Abnormal fingernail morphology, Corneal opac...	ORPHA:1647
Cardiofaciocutaneous Syndrome 2	Curly hair, Absent eyebrow, Peripheral axonal neuropathy, Posteriorly rotated ears, Fine hair, Hi...	OMIM:615278
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1	Pappenheimer bodies, Sideroblastic anemia, Micrognathia, Microcytic anemia, Growth delay, Pigment...	OMIM:600462
Fanconi Anemia, Complementation Group S	Epicanthus, Macrodontia, Short stature, Blepharophimosis, Low anterior hairline, Dental malocclus...	OMIM:617883
Abruzzo-Erickson Syndrome	Macrotia, Hearing impairment, Protruding ear	OMIM:302905
Epidermolysis Bullosa Simplex With Muscular Dystrophy	Alopecia, Aplasia/Hypoplasia of the skin, Hypoplastic fingernail, Abnormal dental enamel morpholo...	ORPHA:257
Amelogenesis Imperfecta, Type Ih	Dental enamel pits, Anterior open-bite malocclusion, Yellow-brown discoloration of the teeth, Ena...	OMIM:616221
Charcot-Marie-Tooth Disease, Axonal, Type 2J	Steppage gait, Peripheral demyelination, Axonal degeneration/regeneration	OMIM:607736
Hypotrichosis 12	Sparse scalp hair, Dry hair, Slow-growing hair, Sparse axillary hair, Abnormal sweat gland morpho...	OMIM:615885
Smith-Magenis Syndrome	Mandibular prognathia, Tented upper lip vermilion, Failure to thrive in infancy, Short stature, D...	ORPHA:819
Hemifacial Atrophy, Progressive	Delayed eruption of teeth, Tongue atrophy, Poliosis, Dental malocclusion, Horner syndrome, Patchy...	OMIM:141300
Kid Syndrome	Angular cheilitis, Scarring alopecia of scalp, Posterior blepharitis, Prelingual sensorineural he...	ORPHA:477
Hallermann-Streiff Syndrome	Selective tooth agenesis, Micrognathia, High, narrow palate, High palate, Sparse hair, Iris colob...	OMIM:234100
Alopecia-Intellectual Disability Syndrome	Sparse scalp hair, Alopecia, Macrotia, Sparse body hair, Aplasia/Hypoplasia of the eyebrow, Heari...	ORPHA:2850
Spastic Ataxia 5, Autosomal Recessive	Cerebellar atrophy, Spastic ataxia, Ataxia, Dysmetria, Dysdiadochokinesis, Onion bulb formation	OMIM:614487
Helsmoortel-Van Der Aa Syndrome	Decreased response to growth hormone stimulation test, High, narrow palate, Ectropion of lower ey...	OMIM:615873
Charcot-Marie-Tooth Disease Type 4G	Peripheral axonal neuropathy, Gait imbalance, Difficulty walking, Loss of ambulation, Peripheral ...	ORPHA:99953
Focal Facial Dermal Dysplasia 3, Setleis Type	Epicanthus, Low anterior hairline, Absent lower eyelashes, Sparse hair, Distichiasis, Thick upper...	OMIM:227260
Lenz-Majewski Hyperostotic Dwarfism	Mandibular prognathia, Anterior pituitary hypoplasia, Micrognathia, Knee flexion contracture, Spa...	OMIM:151050
Cockayne Syndrome Type 1	Mandibular prognathia, Absent brainstem auditory responses, Widely spaced primary teeth, Conjunct...	ORPHA:90321
Spinocerebellar Ataxia, Autosomal Recessive 22	Cerebellar atrophy, Ataxia, Unsteady gait, Dysmetria, Truncal ataxia	OMIM:616948
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome	Mandibular prognathia, Slow-growing hair, Short stature, Micrognathia, Abnormal hair morphology, ...	ORPHA:3082
Spinocerebellar Ataxia 23	Cerebellar atrophy, Limb ataxia, Dysmetria, Gait ataxia, CNS demyelination, Neuronal loss in cent...	OMIM:610245
Trichorhinophalangeal Syndrome, Type Iii	Thin upper lip vermilion, Dental crowding, Short stature, Supernumerary tooth, Protruding ear, Lo...	OMIM:190351
Silver-Russell Syndrome Due To 7P11.2P13 Microduplication	Thin upper lip vermilion, Small for gestational age, Short stature, Postnatal growth retardation,...	ORPHA:231137
Metachromatic Leukodystrophy Due To Saposin B Deficiency	Loss of ambulation, CNS demyelination, Peripheral demyelination, Gait ataxia	OMIM:249900
Snijders Blok-Campeau Syndrome	Epicanthus, Inguinal hernia, Taurodontia, High palate, Widely spaced teeth, Low-set ears, Astigma...	OMIM:618205
Sjögren-Larsson Syndrome	Abnormality of retinal pigmentation, Generalized hyperpigmentation, Short stature, Abnormal denta...	ORPHA:816
Charcot-Marie-Tooth Disease, Axonal, Type 2B1	Decreased number of peripheral myelinated nerve fibers, Steppage gait, Peripheral axonal atrophy,...	OMIM:605588
Carabelli Anomaly Of Maxillary Molar Teeth	Shovel-shaped maxillary central incisors, Abnormality of molar, Abnormality of the dentition	OMIM:114700
Tetrasomy 12P	Delayed eruption of teeth, Thin upper lip vermilion, Telecanthus, Short stature, Cachexia, Sparse...	ORPHA:884
Dental Ankylosis	Mandibular prognathia, Tooth agenesis, Abnormal dental enamel morphology	ORPHA:1077
Adult-onset autosomal dominant leukodystrophy (ADLD)	Peripheral demyelination, Leukodystrophy	DECIPHER:59
Vulto-Van Silfhout-De Vries Syndrome	Mandibular prognathia, Epicanthus, Tented upper lip vermilion, Sacral dimple, Widow's peak, Thick...	OMIM:615828
Marshall-Smith Syndrome	Failure to thrive, Protruding tongue, Optic atrophy, Gingival overgrowth, Thin skin, Conductive h...	ORPHA:561
Slowed Nerve Conduction Velocity, Autosomal Dominant	Onion bulb formation, Peripheral demyelination	OMIM:608236
Craniolenticulosutural Dysplasia	Delayed eruption of teeth, Brittle hair, Hyperpigmentation of the skin, Short stature, Hypoplasia...	ORPHA:50814
Porphyria, Congenital Erythropoietic	Absent eyebrow, Alopecia, Erythrodontia, Short stature, Hemolytic anemia, Thrombocytopenia, Splen...	OMIM:263700
Wiedemann-Rautenstrauch Syndrome	Micrognathia, Sudanophilic leukodystrophy, Flexion contracture, Downturned corners of mouth, Hypo...	OMIM:264090
Woolly Hair, Hypotrichosis, Everted Lower Lip, And Outstanding Ears	Sparse hair, Woolly hair	OMIM:278200
Adult Krabbe Disease	Broad-based gait, Abnormal medulla oblongata morphology, Ataxia, Abnormal pons morphology, Gait d...	ORPHA:206448
Sabinas Brittle Hair Syndrome	Dry hair, Brittle hair, Nail dystrophy, Nail dysplasia, Sparse hair	OMIM:211390
Ohdo Syndrome	Epicanthus, Short stature, Hearing impairment, Micrognathia, Sparse eyebrow, Cryptorchidism, Hypo...	OMIM:249620
Blepharocheilodontic Syndrome 1	Lagophthalmos, Conical tooth, Cleft upper lip, Ectropion of lower eyelids, Euryblepharon, Hypodon...	OMIM:119580
Spinocerebellar Ataxia 32	Cerebellar atrophy, Ataxia, Azoospermia, Infertility, Testicular atrophy	OMIM:613909
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome	Low-set, posteriorly rotated ears, Alopecia, Severe short stature, Abnormal dental enamel morphol...	ORPHA:1005
Trichorhinophalangeal Syndrome Type 1	Sparse eyelashes, Camptodactyly of finger, Short stature, Micrognathia, Sparse eyebrow, Abnormali...	ORPHA:77258
Noonan Syndrome 6	Curly hair, Epicanthus, Juvenile myelomonocytic leukemia, Short stature, Long eyebrows, Cryptorch...	OMIM:613224
Celiac Disease, Susceptibility To, 1	Alopecia, Macrocytic anemia, Short stature, Postnatal growth retardation, Weight loss, Iron defic...	OMIM:212750
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2K	Gait disturbance, Peripheral demyelination	ORPHA:99944
Mandibuloacral Dysplasia With Type B Lipodystrophy	Alopecia, Short stature, Micrognathia, Abnormal hair morphology, Abnormality of the dentition, Ge...	ORPHA:90154
Bilateral Frontoparietal Polymicrogyria	Cerebellar vermis hypoplasia, Cerebral dysmyelination, Hypoplasia of the pons, Abnormal cerebellu...	ORPHA:101070
Methionine Adenosyltransferase I/Iii Deficiency	CNS demyelination, Peripheral demyelination	OMIM:250850
Rothmund-Thomson Syndrome Type 2	Aplastic anemia, Facial erythema, High palate, Neutropenia, Sparse hair, Microdontia, Juvenile ca...	ORPHA:221016
Seckel Syndrome 5	Short stature, Selective tooth agenesis, Micrognathia, Cryptorchidism, Cleft palate, Oligodontia,...	OMIM:613823
Acrootoocular Syndrome	Decreased response to growth hormone stimulation test, Micrognathia, High, narrow palate, Conduct...	ORPHA:2980
Cranioectodermal Dysplasia 4	Epicanthus, Short stature, Recurrent pneumonia, Onychogryposis, Decreased nasal nitric oxide, Pro...	OMIM:614378
Palmoplantar Keratoderma And Woolly Hair	Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Leukonychia, Woolly hair, Sparse body hair	OMIM:616099
Waardenburg Syndrome, Type 2F	Telecanthus, Hypermelanotic macule, Congenital sensorineural hearing impairment, Sensorineural he...	OMIM:619947
Temtamy Syndrome	Dental crowding, Highly arched eyebrow, Micrognathia, Lens luxation, Ectopia lentis, Hypoplasia o...	OMIM:218340
Neurodevelopmental Disorder With Spasticity, Seizures, And Brain Abnormalities	Mandibular prognathia, Tented upper lip vermilion, Posteriorly rotated ears, Flexion contracture,...	OMIM:620001
Rhizomelic Chondrodysplasia Punctata	Alopecia, Epicanthus, Short stature, Rhizomelia, Cataract, Abnormality of the dentition, Growth d...	ORPHA:177
Orofaciodigital Syndrome I	Dry hair, Lobulated tongue, High palate, Sparse hair, Microretrognathia, Alopecia, Short stature,...	OMIM:311200
Intellectual Developmental Disorder, Autosomal Recessive 5	Smooth philtrum, Telecanthus, Small for gestational age, Short stature, Blepharophimosis, Postnat...	OMIM:611091
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Aplasia/Hypopl...	ORPHA:280365
Amelogenesis Imperfecta, Hypomaturation Type, Iia2	Anterior open-bite malocclusion, Hypomature enamel, Amelogenesis imperfecta, Yellow-brown discolo...	OMIM:612529
Giant Axonal Neuropathy 2, Autosomal Dominant	Peripheral axonal neuropathy, Steppage gait, Onion bulb formation	OMIM:610100
Autosomal Recessive Cerebellar Ataxia-Psychomotor Delay Syndrome	Cerebellar atrophy, Ataxia, Unsteady gait, Limb ataxia, Gait disturbance, Truncal ataxia	ORPHA:284271
Amelogenesis Imperfecta, Type Iiic	Anterior open-bite malocclusion, Hypocalcification of dental enamel, Yellow-brown discoloration o...	OMIM:618386
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii	Sparse scalp hair, Postnatal growth retardation, Disproportionate short stature, Upslanted palpeb...	OMIM:210720
X-Linked Dominant Chondrodysplasia Punctata	Cataract, Sparse eyelashes, Abnormal pinna morphology, Abnormal hair pattern, Short stature, Spar...	ORPHA:35173
Cardiofaciocutaneous Syndrome	Brittle hair, Redundant skin, Webbed neck, High palate, Thickened helices, Sparse hair, Dystrophi...	ORPHA:1340
Acrofacial Dysostosis, Catania Type	Microretrognathia, Low-set, posteriorly rotated ears, Inguinal hernia, Preauricular pit, Short st...	ORPHA:1786
Leukoencephalopathy-Palmoplantar Keratoderma Syndrome	Decreased number of peripheral myelinated nerve fibers, Unsteady gait, Tip-toe gait	ORPHA:2386
Hereditary Bullous Dystrophy, Macular Type	Alopecia, Cataract, Congenital abnormal hair pattern, Short stature, Pneumonia, Corneal opacity, ...	ORPHA:1867
Heimler Syndrome 1	Retinal pigment epithelial mottling, Sensorineural hearing impairment, Leukonychia, Beau's lines,...	OMIM:234580
Cardiac-Valvular Ehlers-Danlos Syndrome	Inguinal hernia, Dental crowding, Short stature, Dyspnea, Severe conductive hearing impairment, M...	ORPHA:230851
Charcot-Marie-Tooth Disease, Dominant Intermediate D	Axonal degeneration/regeneration, Segmental peripheral demyelination/remyelination	OMIM:607791
Spondylodysplastic Ehlers-Danlos Syndrome	Abnormality of the temporomandibular joint, Multiple joint contractures, Numerous nevi, Micrognat...	ORPHA:536471
Noonan Syndrome 8	Curly hair, Epicanthus, Short stature, Large for gestational age, Cryptorchidism, Hyperkeratosis,...	OMIM:615355
Hypotrichosis 14	Sparse pubic hair, Short eyelashes, Absent axillary hair, Sparse hair, Sparse body hair	OMIM:618275
Spinocerebellar Ataxia 49	Cerebellar atrophy, Ataxia, Unsteady gait, Dysmetria, Dysdiadochokinesis, Loss of ambulation, Sen...	OMIM:619806
Lelis Syndrome	Mandibular prognathia, Yellow nails, Carious teeth, Perioral hyperpigmentation, Absent lower eyel...	ORPHA:140936
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly	Curly hair, Epicanthus, Tented upper lip vermilion, Thin upper lip vermilion, Delayed CNS myelina...	OMIM:620075
Den Hoed-De Boer-Voisin Syndrome	Smooth philtrum, Delayed eruption of teeth, Posteriorly rotated ears, Carious teeth, Overweight, ...	OMIM:619229
Squalene Synthase Deficiency	Epicanthus, Posteriorly rotated ears, Failure to thrive in infancy, Optic nerve hypoplasia, Micro...	OMIM:618156
Intellectual Developmental Disorder, X-Linked 9	Macrotia	OMIM:309549
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	Redundant neck skin, Leukopenia, Short stature, Cryptorchidism, Astigmatism, Low-set ears, Small ...	OMIM:301056
Oculomaxillofacial Dysostosis	Median cleft lip, Short stature, Camptodactyly of finger, Corneal opacity, Abnormal eyelid morpho...	ORPHA:1794
Cardiofaciocutaneous Syndrome 4	Absent eyebrow, Curly hair, Epicanthus, Sparse eyelashes, Decreased response to growth hormone st...	OMIM:615280
Charcot-Marie-Tooth Disease, Type 4J	Axonal loss, Onion bulb formation, Peripheral hypomyelination, Gait disturbance	OMIM:611228
Spinocerebellar Ataxia Type 32	Cerebellar atrophy, Male infertility, Progressive cerebellar ataxia, Azoospermia, Testicular atrophy	ORPHA:276183
Noonan Syndrome-Like Disorder With Loose Anagen Hair	Low-set, posteriorly rotated ears, Sparse scalp hair, Epicanthus, Abnormal fingernail morphology,...	ORPHA:2701
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies	Thin upper lip vermilion, Delayed CNS myelination, Posteriorly rotated ears, Short stature, Corne...	OMIM:617763
Macrosomia-Microphthalmia-Cleft Palate Syndrome	Corneal opacity, Large for gestational age, Respiratory insufficiency, Microcornea, Median cleft ...	ORPHA:2432
Borjeson-Forssman-Lehmann Syndrome	Cataract, Short stature, Hearing impairment, Blepharophimosis, Cryptorchidism, Camptodactyly of t...	ORPHA:127
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia	Cerebellar atrophy, Peripheral axonal degeneration, Ataxia, Decreased number of large peripheral ...	OMIM:208920
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A	Decreased number of peripheral myelinated nerve fibers, Optic atrophy, Steppage gait, Peripheral ...	OMIM:609260
X-Linked Hypohidrotic Ectodermal Dysplasia	Delayed eruption of teeth, Everted upper lip vermilion, Everted lower lip vermilion, Sparse hair,...	ORPHA:181
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly	Micrognathia, Widely spaced teeth, High palate, Microdontia, Bifid uvula, Short stature, Rhizomel...	OMIM:266920
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease	Absent brainstem auditory responses, White eyelashes, White eyebrow, Myelin outfoldings, Cerebral...	OMIM:609136
Cronkhite-Canada Syndrome	Alopecia, Generalized hyperpigmentation, Abnormal fingernail morphology, Cataract, Cachexia, Hypo...	ORPHA:2930
Albinism, Oculocutaneous, Type Iii	Red hair, Partial albinism, Albinism	OMIM:203290
Intellectual Developmental Disorder, Autosomal Recessive 39	Anteverted ears, Synophrys, Macrotia	OMIM:615541
Spinocerebellar Ataxia 25	Cerebellar atrophy, Decreased number of peripheral myelinated nerve fibers, Ataxia	OMIM:608703
Amelogenesis Imperfecta, Hypomaturation Type, Iia4	Enamel hypoplasia, Enamel hypomineralization, Amelogenesis imperfecta	OMIM:614832
Dental Anomalies And Short Stature	Mandibular prognathia, Short stature, Hypoplasia of the maxilla, Amelogenesis imperfecta, Oligodo...	OMIM:601216
Moynahan Syndrome	Alopecia, Short stature, Cachexia, Sensorineural hearing impairment, Hyperkeratosis, Hypogonadism...	ORPHA:2574
Chudley-Mccullough Syndrome	Cerebellar hypoplasia, Cerebellar dysplasia	OMIM:604213
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B	Optic disc pallor, Peripheral axonal neuropathy, Decreased number of large peripheral myelinated ...	OMIM:617087
Craniofrontonasal Dysplasia	Camptodactyly of finger, Congenital diaphragmatic hernia, Abnormality of hair texture, Abnormalit...	ORPHA:1520
48,Xxxy Syndrome	Mandibular prognathia, Delayed eruption of teeth, Epicanthus, Inguinal hernia, Abnormal dental en...	ORPHA:96263
Bartsocas-Papas Syndrome	Median cleft lip, Corneal opacity, Alopecia totalis, Micrognathia, Hypoplastic toenails, Ankylobl...	ORPHA:1234
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome	Micrognathia, Conical tooth, Ankyloblepharon, Protruding ear, Hyperconvex fingernails, Coarse hai...	ORPHA:1071
Trichodermodysplasia-Dental Alterations Syndrome	Delayed eruption of teeth, Sparse scalp hair, Brittle hair, Abnormal dental morphology, Supernume...	ORPHA:3353
Pycnodysostosis	Ridged nail, Obtuse angle of mandible, Decreased response to growth hormone stimulation test, Mic...	ORPHA:763
Odontotrichoungual-Digital-Palmar Syndrome	Mandibular prognathia, Natal tooth, Abnormality of hair texture, Dental malocclusion, Thick vermi...	OMIM:601957
Forsythe-Wakeling Syndrome	Macrotia, Low-set ears	OMIM:613606
Alopecia Antibody Deficiency	Abnormality of dental color, Short stature, Abnormal eyelash morphology, Conductive hearing impai...	ORPHA:1006
Lacrimoauriculodentodigital Syndrome 3	Absent lacrimal punctum, Epicanthus, Absent eyelashes, Carious teeth, Cupped ear, Lacrimal duct a...	OMIM:620193
46,Xy Gonadal Dysgenesis With Minifascicular Neuropathy	Decreased number of peripheral myelinated nerve fibers, Hypergonadotropic hypogonadism, Primary a...	OMIM:607080
Neuropathy, Congenital Hypomyelinating, 2	Decreased number of peripheral myelinated nerve fibers, Facial diplegia, Onion bulb formation, In...	OMIM:618184
Atypical Werner Syndrome	Micrognathia, Abnormal hair whorl, Premature graying of hair, Fragile nails, Alopecia, Aplasia/Hy...	ORPHA:79474
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1	Caudate atrophy, Cerebral atrophy, Axonal loss, Gait disturbance, Abnormal upper motor neuron mor...	OMIM:221770
Pparg-Related Familial Partial Lipodystrophy	Loss of subcutaneous adipose tissue in limbs, Aplasia/Hypoplasia of the skin, Lipoatrophy, Dysmen...	ORPHA:79083
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder	Redundant neck skin, Short lingual frenulum, Downturned corners of mouth, Short philtrum, Microdo...	OMIM:617360
Meier-Gorlin Syndrome 1	Respiratory distress, Micrognathia, Hypoplasia of the maxilla, Flexion contracture, High palate, ...	OMIM:224690
Localized Dystrophic Epidermolysis Bullosa, Acral Form	Recurrent loss of toenails and fingernails, Erythema, Palmoplantar hyperkeratosis, Erythematous p...	ORPHA:158673
Seckel Syndrome 1	Pancytopenia, Dental crowding, Selective tooth agenesis, Abnormal pinna morphology, Micrognathia,...	OMIM:210600
Amelogenesis Imperfecta, Type If	Dental enamel pits, Abnormality of dental color, Enamel hypoplasia, Amelogenesis imperfecta	OMIM:616270
Leukodystrophy, Hypomyelinating, 5	Abnormal cerebellum morphology, CNS hypomyelination, Leukodystrophy, Loss of ambulation, Onion bu...	OMIM:610532
Temtamy Preaxial Brachydactyly Syndrome	Highly arched eyebrow, Diastema, Synophrys, Deep philtrum, Talon cusp, Optic atrophy, Cleft palat...	OMIM:605282
Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome	Curly hair, Short stature, Curly eyelashes, Cryptorchidism, Multiple rows of eyelashes, Narrow ph...	ORPHA:163654
Nasopalpebral Lipoma-Coloboma Syndrome	Lipomas of eyelids, Telecanthus, Cataract, Corneal opacity, Abnormal eyelash morphology, Sparse e...	ORPHA:2399
49,Xxxxy Syndrome	Mandibular prognathia, Delayed eruption of teeth, Epicanthus, Short stature, Abnormal dental enam...	ORPHA:96264
Heyn-Sproul-Jackson Syndrome	Epicanthus, Severe short stature, Decreased body weight, Sparse hair, Intrauterine growth retarda...	OMIM:618724
Hallermann-Streiff Syndrome	Micrognathia, High, narrow palate, Glossoptosis, Sparse hair, Alopecia, Sparse eyebrow, Cryptorch...	ORPHA:2108
Ectodermal Dysplasia-Sensorineural Deafness Syndrome	Brittle hair, Short stature, Camptodactyly of finger, Carious teeth, Sensorineural hearing impair...	ORPHA:1883
Trichorhinophalangeal Syndrome, Type I	Micrognathia, Deep philtrum, Protruding ear, Sparse hair, Microdontia, Short stature, Thin nail, ...	OMIM:190350
Congenital Disorder Of Glycosylation, Type Iil	Epicanthus, Pancytopenia, Splenomegaly, Optic atrophy, Retrognathia, Dry skin, Growth delay, Hype...	OMIM:614576
Oculocerebrorenal Syndrome Of Lowe	Mandibular prognathia, Hyperparathyroidism, Dental crowding, Micrognathia, Deep philtrum, Abnorma...	ORPHA:534
Cornelia De Lange Syndrome 5	Micrognathia, Synophrys, Low anterior hairline, Downturned corners of mouth, High palate, Widely ...	OMIM:300882
Woolly Hair, Autosomal Dominant	Abnormal eyebrow morphology, Dry hair, Slow-growing hair, Abnormal eyelash morphology, Coarse hai...	OMIM:194300
Hermansky-Pudlak Syndrome	Hypopigmentation of hair, Menometrorrhagia, Partial albinism, Abnormal dental enamel morphology, ...	ORPHA:79430
Agenesis Of The Corpus Callosum With Peripheral Neuropathy	Peripheral axonal neuropathy, Demyelinating peripheral neuropathy, Hypoplasia of the maxilla, Fle...	OMIM:218000
Progressive Hemifacial Atrophy	Aplasia/Hypoplasia of the skin, Micrognathia, Abnormal mandible morphology, Irregular hyperpigmen...	ORPHA:1214
Osteopenia-Intellectual Disability-Sparse Hair Syndrome	Mandibular prognathia, Sparse scalp hair, High-frequency sensorineural hearing impairment, Postna...	ORPHA:2324
Momo Syndrome	Delayed eruption of teeth, Epicanthus, Underfolded helix, Hyperconvex nail, Thick lower lip vermi...	OMIM:157980
Spastic Paraplegia 55, Autosomal Recessive	Peripheral axonal neuropathy, Optic atrophy, Steppage gait, Difficulty walking, Onion bulb formation	OMIM:615035
Waardenburg Syndrome Type 1	Mandibular prognathia, Hypopigmentation of hair, Telecanthus, White eyelashes, White eyebrow, Ten...	ORPHA:894
Congenital Disorder Of Deglycosylation 1	Respiratory distress, Delayed CNS myelination, Corneal opacity, Delayed myelination, Low-set ears...	OMIM:615273
Incontinentia Pigmenti	Orofacial cleft, Abnormality of skin pigmentation, Abnormal toenail morphology, Abnormality of th...	ORPHA:464
Odontomicronychial Dysplasia	Thin nail, Short nail, Abnormality of the dentition, Carious teeth, Premature loss of primary tee...	ORPHA:1811
Trichothiodystrophy 2, Photosensitive	Coarse hair, Tiger tail banding, Short stature, Agenesis of maxillary lateral incisor	OMIM:616390
Chime Syndrome	Epicanthus, Abnormal dental morphology, Corneal opacity, Hearing impairment, Abnormality of the d...	ORPHA:3474
Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive	Onion bulb formation, Peripheral hypomyelination, Abnormal cranial nerve morphology	OMIM:605253
Trichothiodystrophy 5, Nonphotosensitive	Mandibular prognathia, Brittle hair, Slow-growing hair, Optic nerve hypoplasia, Short stature, Sp...	OMIM:300953
Lamellar Ichthyosis	Short stature, Abnormality of the dentition, Lack of skin elasticity, Hyperkeratosis, Everted low...	ORPHA:313
Dentinogenesis Imperfecta	Generalized hypoplasia of dental enamel, Odontodysplasia, Selective tooth agenesis, Pulp oblitera...	ORPHA:49042
Paraparetic Variant Of Guillain-Barré Syndrome	Peripheral axonal neuropathy, Peripheral demyelination	ORPHA:231445
Ectodermal Dysplasia 13, Hair/Tooth Type	Brittle hair, Sparse eyelashes, Low anterior hairline, Oligodontia, Thick vermilion border, Thin ...	OMIM:617392
Sulfite Oxidase Deficiency, Isolated	Delayed eruption of teeth, Ectopia lentis, Macrotia, Fine hair	OMIM:272300
Pili Torti, Early-Onset	Dry hair, Brittle hair, Enamel hypoplasia, Coarse hair, Hair shafts flattened at irregular interv...	OMIM:261900
Amoebiasis Due To Free-Living Amoebae	Abnormality of taste sensation, Sinusitis, Facial palsy, Pneumonia, Subcutaneous nodule, Skin ulc...	ORPHA:68
Rodrigues Blindness	Short stature, Sclerocornea, Nasal flaring, Protruding ear, Fine hair, Microcornea, Sparse hair, ...	OMIM:268320
Rubinstein-Taybi Syndrome 1	Respiratory distress, Dental crowding, Micrognathia, Bilateral cryptorchidism, High, narrow palat...	OMIM:180849
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities	Abnormality of skin pigmentation, Cataract, Infertility, Hearing impairment	OMIM:300719
Legius Syndrome	Epicanthus, Inguinal freckling, Posteriorly rotated ears, Micrognathia, High, narrow palate, Axil...	OMIM:611431
Cardiofaciocutaneous Syndrome 1	Numerous nevi, Micrognathia, Deep philtrum, High palate, Sparse hair, Absent eyebrow, Short statu...	OMIM:115150
Hereditary Sensory And Autonomic Neuropathy Type 4	Fasciitis, Alveolar ridge overgrowth, Corneal scarring, Atypical scarring of skin, Aplasia of the...	ORPHA:642
Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome	Sparse scalp hair, Alopecia, Short stature, Sparse eyebrow, Fine hair, Melanocytic nevus, Ciliary...	ORPHA:1882
Autosomal Recessive Cutis Laxa Type 2, Classic Type	Redundant neck skin, Redundant skin, Coarse hair, High palate, Sparse hair, Emphysema, Short stat...	ORPHA:357074
Mucous Membrane Pemphigoid	Atypical scarring of skin, Corneal opacity, Gingivitis, Oral mucosal blisters	ORPHA:46486
Pseudopseudohypoparathyroidism	Delayed eruption of teeth, Cataract, Short stature, Pseudohypoparathyroidism, Obesity, Enamel hyp...	OMIM:612463
Schimke Immuno-Osseous Dysplasia	Lymphopenia, Small for gestational age, Hypermelanotic macule, Short stature, Corneal opacity, Th...	ORPHA:1830
Neuropathy, Hereditary Sensory And Autonomic, Type Iii	Decreased number of large peripheral myelinated nerve fibers, Hypogeusia, Growth delay, Decreased...	OMIM:223900
Trichothiodystrophy 6, Nonphotosensitive	Brittle hair, Small for gestational age, Slow-growing hair, Short stature, Microcornea, Mild intr...	OMIM:616943
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome	Alopecia, Telecanthus, Conical tooth, Abnormality of the dentition, Cryptorchidism, Fine hair, Up...	ORPHA:228390
Intellectual Disability, Wolff Type	Macrotia, Hypoplastic superior helix, Abnormality of the nail, Low posterior hairline	ORPHA:3080
Momo Syndrome	Delayed eruption of teeth, Thick upper lip vermilion, Epicanthus, Underfolded helix, Hyperconvex ...	ORPHA:2563
Amelogenesis Imperfecta, Type Ie	Anterior open-bite malocclusion, Enamel hypoplasia, Abnormal dentin morphology, Amelogenesis impe...	OMIM:301200
Chromosome 5P13 Duplication Syndrome	Epicanthus, Posteriorly rotated ears, Small for gestational age, Blepharophimosis, Low posterior ...	OMIM:613174
Hypotrichosis 6	Brittle hair, Sparse eyelashes, Sparse eyebrow, Sparse hair, Pili torti	OMIM:607903
Schöpf-Schulz-Passarge Syndrome	Alopecia, Premature loss of primary teeth, Ovarian neoplasm, Palmoplantar keratoderma, Hypodontia...	ORPHA:50944
Amelogenesis Imperfecta, Type Iv	Amelogenesis imperfecta, Enamel hypoplasia, Taurodontia, Yellow-brown discoloration of the teeth	OMIM:104510
Neuropathy, Hereditary Motor And Sensory, Russe Type	Decreased number of large peripheral myelinated nerve fibers, Difficulty walking, Peripheral hypo...	OMIM:605285
Koolen-De Vries Syndrome	Anteverted ears, High palate, Widely spaced teeth, Iris hypopigmentation, Short stature, Cleft up...	OMIM:610443
Cerebrooculofacioskeletal Syndrome 1	Micrognathia, Flexion contracture, Knee flexion contracture, Cryptorchidism, CNS demyelination, J...	OMIM:214150
Mandibuloacral Dysplasia With Type B Lipodystrophy	Loss of subcutaneous adipose tissue in limbs, Alopecia, Brittle hair, Dental crowding, Decreased ...	OMIM:608612
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate	Selective tooth agenesis, Conical tooth, Hypoplasia of the maxilla, Ankyloblepharon, Conjunctivit...	OMIM:106260
Intellectual Developmental Disorder, Autosomal Dominant 65	Tented upper lip vermilion, Posteriorly rotated ears, Micrognathia, Synophrys, Low posterior hair...	OMIM:619320
X-Linked Intellectual Disability, Porteous Type	Macrotia, Cupped ear, Frontal balding	ORPHA:93945
Bloom Syndrome	Small for gestational age, Elevated hemoglobin A1c, Decreased fertility in females, Postnatal gro...	OMIM:210900
Acquired Hypertrichosis Lanuginosa	Abnormal eyebrow morphology, Hypopigmentation of hair, Abnormal eyelid morphology, Fine hair, Ova...	ORPHA:2221
Intellectual Developmental Disorder, X-Linked 101	Macrotia	OMIM:300928
Clark-Baraitser syndrome	Exaggerated median tongue furrow, Thick lower lip vermilion, Obesity, Prominent median palatal ra...	OMIM:300602
Axin2-Related Attenuated Familial Adenomatous Polyposis	Sparse hair, Abnormal odontoid tissue morphology	ORPHA:401911
Florid Cemento-Osseous Dysplasia	Jaw swelling, Mandibular osteomyelitis, Supernumerary tooth, Dental malocclusion, Oral ulcer, Abn...	ORPHA:83451
Peroxisomal Fatty Acyl-Coa Reductase 1 Disorder	Macrotia, Highly arched eyebrow	OMIM:616154
Dubowitz Syndrome	Abnormality of neutrophils, Micrognathia, Hypoplastic toenails, Low anterior hairline, Protruding...	ORPHA:235
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13	Mandibular prognathia, Hypopigmentation of hair, Obesity, Wide mouth, Inappropriate laughter, Hyp...	ORPHA:411515
Hypotrichosis 5	Alopecia, Sparse eyelashes, Abnormal sweat gland morphology, Absent pubic hair, Thin eyebrow, Abs...	OMIM:612841
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome	Low-set, posteriorly rotated ears, Abnormality of retinal pigmentation, Epicanthus, Carious teeth...	ORPHA:1390
Charcot-Marie-Tooth Disease, Axonal, Type 2L	Decreased number of large peripheral myelinated nerve fibers, Peripheral axonal neuropathy	OMIM:608673
Juvenile Hyaline Fibromatosis	Aplasia/Hypoplasia of the skin, Progressive flexion contractures, Abnormal hair morphology, Subcu...	ORPHA:2028
Waardenburg Syndrome Type 2	Telecanthus, Hypopigmentation of hair, Hearing impairment, Sensorineural hearing impairment, Hypo...	ORPHA:895
Spinocerebellar Ataxia, Autosomal Recessive 14	Cerebellar atrophy, Unsteady gait, Dysmetria, Gait ataxia, Dysdiadochokinesis	OMIM:615386
Microcephaly 17, Primary, Autosomal Recessive	Macrotia, Low anterior hairline	OMIM:617090
Gorlin-Chaudhry-Moss Syndrome	Short stature, Sclerocornea, Abnormal eyelid morphology, Hypoplasia of the maxilla, Abnormality o...	ORPHA:2095
Slc39A13-Related Spondylodysplastic Ehlers-Danlos Syndrome	Moderately short stature, Flexion contracture, Thin skin, Failure to thrive, Downslanted palpebra...	ORPHA:157965
Blepharo-Cheilo-Odontic Syndrome	Abnormal hair quantity, Epidermoid cyst, Abnormal eyelid morphology, Carious teeth, Conical tooth...	ORPHA:1997
Ablepharon-Macrostomia Syndrome	Redundant skin, Sparse hair, Cryptophthalmos, Absent eyebrow, Microtia, third degree, Hypoplasia ...	OMIM:200110
Griscelli Syndrome, Type 2	Accumulation of melanosomes in melanocytes, Silver-gray hair, Hepatosplenomegaly, Hemophagocytosi...	OMIM:607624
Intellectual Disability And Myopathy Syndrome	Thin upper lip vermilion, Achilles tendon contracture, Dental malocclusion, Spotty hypopigmentati...	OMIM:619719
Giant Axonal Neuropathy 1, Autosomal Recessive	Decreased number of peripheral myelinated nerve fibers, Facial palsy, Abnormal cerebellum morphol...	OMIM:256850
Cenani-Lenz Syndactyly Syndrome	Premature loss of permanent teeth, Micrognathia, Hypodontia, Malar flattening, Enamel hypoplasia,...	OMIM:212780
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency	Hypopigmentation of hair, Partial albinism, Short stature, Neutropenia	ORPHA:90023
Atkin-Flaitz Syndrome	Short stature, Abnormality of the dentition, Obesity, Thick vermilion border, Everted lower lip v...	ORPHA:1193
Acrofacial Dysostosis Syndrome Of Rodriguez	Deep-set nails, Posteriorly rotated ears, Short stature, Micrognathia, High palate, Short philtru...	OMIM:201170
Chromosome 3Q29 Deletion Syndrome	Macrotia, Posteriorly rotated ears, Low-set ears	OMIM:609425
Noonan Syndrome 7	Curly hair, Epicanthus, Numerous nevi, Short stature, Large for gestational age, Low posterior ha...	OMIM:613706
Krabbe Disease	Diffuse cerebral atrophy, Optic atrophy, Neurodegeneration, CNS demyelination, Peripheral demyeli...	OMIM:245200
Bohring-Opitz Syndrome	Micrognathia, Flexion contracture, Low anterior hairline, Neonatal respiratory distress, Short st...	OMIM:605039
Palmoplantar Keratoderma And Congenital Alopecia 1	Alopecia, Brittle hair, Plantar hyperkeratosis, Epidermal hyperkeratosis, Sparse eyebrow, Leukony...	OMIM:104100
Fetal Hydantoin Syndrome	Low-set, posteriorly rotated ears, Epicanthus, Hypoplastic fingernail, Abnormal pinna morphology,...	ORPHA:1912
Neuropathy, Hereditary Sensory, X-Linked	Decreased number of peripheral myelinated nerve fibers	OMIM:310470
Piebald Trait-Neurologic Defects Syndrome	Macule, Abnormal eyebrow morphology, Hypopigmentation of hair, Abnormal eyelash morphology, Senso...	ORPHA:2885
Treacher-Collins Syndrome	Micrognathia, Hypoplasia of the maxilla, Low anterior hairline, Glossoptosis, Eyelid coloboma, Hy...	ORPHA:861
Fatty Acyl-Coa Reductase 1 Deficiency	Macrotia, Highly arched eyebrow	ORPHA:438178
Raine Syndrome	Mandibular prognathia, Micrognathia, Protruding ear, High palate, Neonatal death, Microdontia, Sh...	OMIM:259775
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1	Large for gestational age, High palate, Sparse hair, Short stature, Cryptorchidism, Loose anagen ...	OMIM:607721
Ectodermal Dysplasia 10B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive	Everted upper lip vermilion, Sparse eyelashes, Conical tooth, Sparse eyebrow, Oligodontia, Thick ...	OMIM:224900
Multiple Sulfatase Deficiency	Cerebellar atrophy, Ataxia, Cerebral atrophy, CNS demyelination, Peripheral demyelination	OMIM:272200
Spondyloepiphyseal Dysplasia, Kondo-Fu Type	Macrotia, Posteriorly rotated ears	OMIM:618392
Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive	Peripheral axonal degeneration, Decreased number of peripheral myelinated nerve fibers, Onion bul...	OMIM:607706
Mcdonough Syndrome	Mandibular prognathia, Low-set, posteriorly rotated ears, Short stature, Cachexia, Micrognathia, ...	ORPHA:2471
Craniolenticulosutural Dysplasia	Delayed eruption of teeth, Thin upper lip vermilion, Brittle hair, Short stature, Carious teeth, ...	OMIM:607812
Wiedemann-Rautenstrauch Syndrome	Decreased response to growth hormone stimulation test, Synophrys, Downturned corners of mouth, Sh...	ORPHA:3455
Charcot-Marie-Tooth Disease Type 2B1	Decreased number of peripheral myelinated nerve fibers, Decreased number of large peripheral myel...	ORPHA:98856
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Epicanthus, Tented upper lip vermilion, Delayed CNS myelination, Cataract, Retinal pigment epithe...	OMIM:614105
Silver-Russell Syndrome 2	Short stature, Micrognathia, Downturned corners of mouth, Thin skin, Intrauterine growth retardation	OMIM:618905
Charcot-Marie-Tooth Disease, Axonal, Type 2E	Facial palsy, Increased connective tissue, Flexion contracture, High palate, Onion bulb formation...	OMIM:607684
Galloway-Mowat Syndrome 8	Enamel hypoplasia, Delayed CNS myelination, Hearing impairment	OMIM:618349
Xp22.13P22.2 Duplication Syndrome	Mandibular prognathia, Macroorchidism, Short stature, Congenital diaphragmatic hernia, Polycystic...	ORPHA:284180
Schimmelpenning-Feuerstein-Mims Syndrome	Alopecia, Abnormality of dental color, Short stature, Nevus sebaceous, Corneal opacity, Linear ne...	OMIM:163200
Intellectual Disability, Buenos-Aires Type	Mandibular prognathia, Abnormal dental morphology, Abnormal fingernail morphology, Short stature,...	ORPHA:3079
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)	Decreased number of peripheral myelinated nerve fibers, Respiratory distress, Short stature, Corn...	OMIM:256810
Autosomal Recessive Cutis Laxa Type 2A	Inguinal hernia, Corneal opacity, Thick hair, Postnatal growth retardation, Excessive wrinkled sk...	ORPHA:357058
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques	Alopecia, Abnormal fingernail morphology, Abnormal oral mucosa morphology, Abnormality of the den...	ORPHA:659
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia	Deep philtrum, Sparse hair, Long philtrum, Juvenile myelomonocytic leukemia, Short stature, Highl...	OMIM:613563
Cerebrooculofacioskeletal Syndrome 2	Cataract, Small for gestational age, Camptodactyly of finger, Micrognathia, Developmental catarac...	OMIM:610756
Even-Plus Syndrome	Severe short stature, Highly arched eyebrow, Synophrys, Microtia, High palate, Hypodontia, Sparse...	OMIM:616854
Ogden Syndrome	Microretrognathia, Everted upper lip vermilion, Inguinal hernia, Postnatal growth retardation, Cr...	ORPHA:276432
Neuropathy, Hereditary Motor And Sensory, Okinawa Type	Decreased number of peripheral myelinated nerve fibers, Hyperlipidemia, Axonal degeneration, Dege...	OMIM:604484
Scalp-Ear-Nipple Syndrome	Mandibular prognathia, Underdeveloped antitragus, Anteverted ears, Protruding ear, Anisocoria, Mu...	OMIM:181270
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Smooth philtrum, Delayed eruption of teeth, Epicanthus, Mild postnatal growth retardation, Crypto...	OMIM:235510
Lichen Planopilaris	Alopecia, Abnormal fingernail morphology, Hypopigmented skin patches, Skin ulcer, Hyperkeratosis,...	ORPHA:525
Multiple Sulfatase Deficiency	Abnormality of retinal pigmentation, Thick eyebrow, Cataract, Short stature, Corneal opacity, Spl...	ORPHA:585
Coenzyme Q10 Deficiency, Primary, 8	Respiratory distress, Small for gestational age, Postnatal growth retardation, Flexion contractur...	OMIM:616733
Warburg-Cinotti Syndrome	Dental crowding, High palate, Conductive hearing impairment, Wrist flexion contracture, Symblepha...	OMIM:618175
Cornelia De Lange Syndrome 2	Smooth philtrum, Thin upper lip vermilion, Thick eyebrow, Short stature, Highly arched eyebrow, M...	OMIM:300590
Xfe Progeroid Syndrome	Premature ovarian insufficiency, Severe short stature, Cachexia, Absence of subcutaneous fat, Opt...	OMIM:610965
Restrictive Dermopathy 1	Micrognathia, Flexion contracture, Scaling skin, Neonatal death, Intrauterine growth retardation,...	OMIM:275210
X-Linked Intellectual Disability Due To Gria3 Mutations	Mandibular prognathia, Slender build, Short stature, Uplifted earlobe, Cryptorchidism, Narrow pal...	ORPHA:364028
Neuromyelitis Optica Spectrum Disorder	Neuronal loss in central nervous system, Peripheral demyelination	ORPHA:71211
Linear Skin Defects With Multiple Congenital Anomalies 2	Optic disc pallor, Posteriorly rotated ears, Short stature, Congenital diaphragmatic hernia, High...	OMIM:300887
Robin Sequence With Distinctive Facial Appearance And Brachydactyly	Tented upper lip vermilion, Micrognathia, Synophrys, Oligodontia, High palate, Exaggerated median...	OMIM:608670
Auriculoosteodysplasia	Attached earlobe, Macrotia, Aplasia/Hypoplasia of the earlobes	ORPHA:114
Hypotrichosis-Intellectual Disability, Lopes Type	Sparse hair, Advanced eruption of teeth	ORPHA:2266
Spinocerebellar Ataxia, Autosomal Recessive 11	Cerebellar atrophy, Ataxia, Limb ataxia, Gait disturbance, Truncal ataxia, Cerebellar vermis atrophy	OMIM:614229
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
Smith-Kingsmore Syndrome	Curly hair, Thin upper lip vermilion, Rhizomelia, Large for gestational age, Cryptorchidism, Thro...	OMIM:616638
Hypotrichosis And Recurrent Skin Vesicles	Sparse scalp hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow, Leukonychia, Sparse ha...	OMIM:613102
Cohen Syndrome	Abnormal eyelid morphology, Micrognathia, Hypoplasia of the maxilla, High, narrow palate, Low ant...	ORPHA:193
Flynn-Aird Syndrome	Alopecia, Cataract, Cachexia, Carious teeth, Skin ulcer, Dermal atrophy, Progressive sensorineura...	ORPHA:2047
Schimke Immunoosseous Dysplasia	Macule, Pancytopenia, Small for gestational age, Hypermelanotic macule, Bilateral cryptorchidism,...	OMIM:242900
Noonan Syndrome 10	Curly hair, Epicanthus, Short stature, Prominent corneal nerve fibers, Sparse eyebrow, Cryptorchi...	OMIM:616564
Lipodystrophy Due To Peptidic Growth Factors Deficiency	Reduced subcutaneous adipose tissue, Aplasia/Hypoplasia of the skin, Lipodystrophy, Lipoatrophy, ...	ORPHA:1979
Global Developmental Delay, Progressive Ataxia, And Elevated Glutamine	Cerebellar atrophy, Progressive cerebellar ataxia	OMIM:618412
Hemoglobin D Disease	Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Abnormal hemoglob...	ORPHA:90039
Spinocerebellar Ataxia, Autosomal Recessive 18	Cerebellar atrophy, Optic disc pallor, Ataxia, Dysmetria, Gait ataxia, Dysdiadochokinesis, Trunca...	OMIM:616204
Autosomal Recessive Spastic Paraplegia Type 35	Cerebellar atrophy, Corpus callosum atrophy, Optic atrophy, Dysmetria, Pontocerebellar atrophy, D...	ORPHA:171629
Macs Syndrome	Irregular dentition, Redundant skin, Micrognathia, High palate, Sparse hair, Decreased body weigh...	OMIM:613075
Hypotrichosis With Juvenile Macular Degeneration	Sparse scalp hair, Brittle hair, Short stature, Melanocytic nevus, Fine hair, Hyperkeratosis, Fre...	ORPHA:1573
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Mandibular prognathia, Dental crowding, Decreased response to growth hormone stimulation test, Ap...	OMIM:619503
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii	Sensorineural hearing impairment, Aplasia/Hypoplasia of the earlobes, Disproportionate short stat...	ORPHA:2637
Camptodactyly Syndrome, Guadalajara Type 1	Mandibular prognathia, Attached earlobe, Synophrys, Downturned corners of mouth, Microcornea, Hig...	ORPHA:1327
Arterial Tortuosity Syndrome	Keratoconus, Inguinal hernia, Congenital diaphragmatic hernia, Micrognathia, Hiatus hernia, Flexi...	OMIM:208050
Temtamy Preaxial Brachydactyly Syndrome	Abnormal spaced incisors, Short stature, Micrognathia, Hypoplasia of the maxilla, Abnormality of ...	ORPHA:363417
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency	Delayed eruption of teeth, Failure to thrive, Small for gestational age, Short stature, Micrognat...	ORPHA:73272
Intellectual Developmental Disorder, Autosomal Dominant 34	Curly hair, Epicanthus, Bilateral ptosis, Synophrys, Upslanted palpebral fissure, Coarse hair, Wi...	OMIM:616351
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development	Mandibular prognathia, Thin upper lip vermilion, Epicanthus, Cataract, Corneal opacity, Deep phil...	OMIM:152950
Severe Intellectual Disability-Progressive Postnatal Microcephaly-Midline Stereotypic Hand Movements Syndrome	Macrotia	ORPHA:397933
Charcot-Marie-Tooth Disease, Type 4B3	Gait disturbance, Brain atrophy, Loss of ambulation, Myelin outfoldings, Onion bulb formation	OMIM:615284
Basel-Vanagaite-Smirin-Yosef Syndrome	Epicanthus, Tented upper lip vermilion, Inguinal hernia, Cataract, Uplifted earlobe, Nevus flamme...	OMIM:616449
Congenital Disorder Of Glycosylation, Type Iik	Posteriorly rotated ears, Short stature, Growth delay, Low-set ears, Malar flattening, Failure to...	OMIM:614727
Noonan Syndrome 14	Curly hair, Epicanthus, Lymphopenia, Lacrimal duct stenosis, Posteriorly rotated ears, Short stat...	OMIM:619745
Hereditary Mucoepithelial Dysplasia	Alopecia, Cataract, Corneal dystrophy, Gingival overgrowth, Furrowed tongue, Fine hair, Hyperkera...	ORPHA:1839
Poikiloderma With Neutropenia	Micrognathia, Leukopenia, Conjunctivitis, Neutropenia, Short stature, Sparse eyebrow, Retrognathi...	OMIM:604173
Diamond-Blackfan Anemia	Pure red cell aplasia, Micrognathia, Low anterior hairline, Reticulocytopenia, Leukopenia, High p...	ORPHA:124
Gapo Syndrome	Epidermoid cyst, Redundant skin, Micrognathia, High, narrow palate, Protruding ear, Eruption fail...	OMIM:230740
Shigellosis	Failure to thrive in infancy, Pneumonia, Leukocytosis, Conjunctivitis, Microangiopathic hemolytic...	ORPHA:810
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome	Epicanthus, Abnormality of hair texture, Micrognathia, Synophrys, Abnormality of dermal melanosom...	ORPHA:73223
Pituitary Adenoma 4, Acth-Secreting	Striae distensae, Pituitary adenoma, Obesity, Facial erythema, Abdominal obesity, Thin skin, Olig...	OMIM:219090
Epidermolysis Bullosa, Junctional 2C, Laryngoonychocutaneous	Symblepharon, Recurrent loss of toenails and fingernails, Skin ulcer, Nail dystrophy, Enamel hypo...	OMIM:245660
Abetalipoproteinemia	Abnormality of retinal pigmentation, Reticulocytosis, Acanthocytosis, Keratoconjunctivitis sicca,...	ORPHA:14
Cranioectodermal Dysplasia 3	Telecanthus, Short stature, Short nail, Rhizomelia, Micrognathia, Broad nail, Fine hair, Hypoplas...	OMIM:614099
Pachyonychia Congenita 2	Sparse scalp hair, Dry hair, Natal tooth, Epidermoid cyst, Angular cheilitis, Subungual hyperkera...	OMIM:167210
Cleft Palate-Large Ears-Small Head Syndrome	Hypoplastic toenails, Macrotia, Protruding ear	ORPHA:2013
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skin Abnormalities	Elbow hypertrichosis, Epicanthus, Thin upper lip vermilion, Carious teeth, Prominent antitragus, ...	OMIM:620191
Congenital Disorder Of Glycosylation, Type Iia	Mandibular prognathia, Sparse hair, Short stature, Diastema, Gingival overgrowth, Low-set ears, R...	OMIM:212066
Hydrocephalus-Obesity-Hypogonadism Syndrome	Sparse facial hair, Absent facial hair, Hypergonadotropic hypogonadism, Short stature, High, narr...	ORPHA:2183
Down Syndrome	Epicanthus, Cataract, Protruding tongue, Abnormality of the dentition, Conductive hearing impairm...	ORPHA:870
Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, And Other Abnormalities	Abnormal pinna morphology, Abnormality of the dentition, Cleft upper lip, Nasolacrimal duct obstr...	OMIM:273400
Ruijs-Aalfs Syndrome	Cataract, Lipodystrophy, Short stature, Micrognathia, Posterior subcapsular cataract, Elbow flexi...	OMIM:616200
Microsporidiosis	Sinusitis, Pneumonia, Cachexia, Keratitis, Abnormality of the spleen, Skin nodule, Abnormality of...	ORPHA:2552
Larsen-Like Osseous Dysplasia-Short Stature Syndrome	Low-set, posteriorly rotated ears, Short stature, Corneal opacity, Thin vermilion border, Narrow ...	ORPHA:2370
Orofaciodigital Syndrome Type 2	Apnea, Micrognathia, Tachypnea, Protruding ear, High palate, Conductive hearing impairment, Short...	ORPHA:2751
Osteogenesis Imperfecta Congenita, Microcephaly, And Cataracts	Disproportionate short-limb short stature, Stillbirth, Thin skin, Developmental cataract	OMIM:259410
Charcot-Marie-Tooth Disease, Axonal, Type 2B	Decreased number of peripheral myelinated nerve fibers, Peripheral axonal atrophy, Axonal degener...	OMIM:600882
Autosomal Recessive Palmoplantar Keratoderma And Congenital Alopecia	Aplasia/Hypoplasia of the skin, Cataract, Alopecia totalis, Subcutaneous nodule, Lack of skin ela...	ORPHA:1366
Olmsted Syndrome 1	Subungual hyperkeratosis, Parakeratosis, Corneal opacity, Flexion contracture, Periorificial hype...	OMIM:614594
Nephrogenic Diabetes Insipidus-Intracranial Calcification-Short Stature-Facial Dysmorphism Syndrome	Short stature, Micrognathia, Carious teeth, Supernumerary tooth, Abnormal antihelix morphology, H...	ORPHA:3145
Tooth Agenesis, Selective, 9	Microdontia, Taurodontia, Selective tooth agenesis	OMIM:617275
Warburg Micro Syndrome 1	Facial hypertrichosis, Macrotia, Low-set ears, Hypertrichosis	OMIM:600118
Vascular Ehlers-Danlos Syndrome	Redundant skin, High, narrow palate, Abnormality of the gingiva, Subcutaneous nodule, Abnormal pu...	ORPHA:286
Osteogenesis Imperfecta, Type Xiii	Short stature, Dentinogenesis imperfecta, Protruding ear, Thin vermilion border, Long eyelashes, ...	OMIM:614856
Bazex-Dupre-Christol Syndrome	Hyperpigmentation of the skin, Furrowed tongue, Coarse hair, Milia, Nevus, Sparse hair, Trichoepi...	OMIM:301845
Neuropathy, Hereditary, With Liability To Pressure Palsies	Segmental peripheral demyelination/remyelination	OMIM:162500
Adams-Oliver Syndrome 2	Alopecia, Micrognathia, Low anterior hairline, Optic atrophy, Protruding ear, Developmental catar...	OMIM:614219
Naxos Disease	Sparse scalp hair, Curly hair, Cleft upper lip, Abnormality of hair texture, Palmoplantar keratod...	ORPHA:34217
Myopathy, Mitochondrial, And Ataxia	Mandibular prognathia, Short stature, Thick hair, Micrognathia, Primary amenorrhea, Growth delay,...	OMIM:617675
Cushing Disease	Adrenal hyperplasia, Pituitary corticotropic cell adenoma, Increased body weight, Ecchymosis, Int...	ORPHA:96253
Jaberi-Elahi Syndrome	Brittle hair, Sparse eyelashes, Cataract, Sparse eyebrow, Optic atrophy, Fine hair, Protruding ea...	OMIM:617988
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome	Alopecia, Brittle hair, Abnormal pinna morphology, Short stature, Abnormality of the anterior pit...	ORPHA:75389
Alpha-Mannosidosis	Mandibular prognathia, Craniofacial hyperostosis, Inguinal hernia, Cataract, Corneal opacity, Ope...	ORPHA:61
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome	Reduced subcutaneous adipose tissue, Alopecia, Limb joint contracture, Hypogonadotropic hypogonad...	OMIM:612079
Fried Syndrome	Macrotia, Hearing impairment	ORPHA:85335
Ctcf-Related Neurodevelopmental Disorder	Synophrys, Microcornea, Short philtrum, Joint contracture of the 5th finger, Microdontia, Low-set...	ORPHA:363611
Shaheen Syndrome	Carious teeth, Enamel hypoplasia, Palmoplantar hyperkeratosis	OMIM:615328
Intellectual Developmental Disorder, X-Linked 93	Macrotia, Cupped ear	OMIM:300659
Hypotonia, Ataxia, Developmental Delay, And Tooth Enamel Defect Syndrome	Enamel hypoplasia, Retrognathia, High palate	OMIM:617915
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma	Alopecia, Sparse eyelashes, Acantholysis, Sparse eyebrow, Palmoplantar hyperkeratosis, Tooth agen...	OMIM:605676
Oligodontia-Colorectal Cancer Syndrome	Sparse scalp hair, Absent eyebrow, Sparse axillary hair, Oligodontia, Short eyelashes, Sparse bod...	OMIM:608615
Kohlschutter-Tonz Syndrome	Enamel hypoplasia, Amelogenesis imperfecta	OMIM:226750
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones	Failure to thrive, Sparse facial hair, Small for gestational age, Sparse axillary hair, Short sta...	OMIM:608154
Neurotrophic Keratopathy	Abnormal fifth cranial nerve morphology, Corneal scarring, Corneal stromal edema, Astigmatism, Re...	ORPHA:137596
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2	Respiratory distress, Sideroblastic anemia, Respiratory insufficiency due to muscle weakness, Gro...	OMIM:613561
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal	Peripheral axonal neuropathy, Brittle hair, Micrognathia, Sparse eyebrow, Developmental cataract,...	OMIM:618810
Intellectual Developmental Disorder, Autosomal Recessive 48	Macrotia	OMIM:616269
Wiedemann-Steiner Syndrome	Elbow hypertrichosis, Micrognathia, Synophrys, High palate, Generalized hirsutism, Brow ptosis, E...	OMIM:605130
Ackerman Syndrome	Taurodontia, Broad philtrum	OMIM:200970
Atelis Syndrome 1	Cataract, Carious teeth, Thrombocytopenia, Bronchiectasis, Dry skin, Leukopenia, Microtia, High p...	OMIM:620184
Amelogenesis Imperfecta, Type Ik	Enamel hypoplasia, Amelogenesis imperfecta	OMIM:620104
Neuroectodermal Melanolysosomal Disease	Hypopigmentation of hair, Generalized hyperpigmentation, Optic atrophy, Premature graying of hair...	ORPHA:33445
Diamond-Blackfan Anemia 21	Unilateral ptosis, Short stature, Nevus, Micrognathia, Erythroid hypoplasia, Synophrys, Widow's p...	OMIM:620072
Tooth Agenesis, Selective, 7	Taurodontia, Agenesis of permanent teeth	OMIM:616724
Barber-Say Syndrome	Delayed eruption of teeth, Ablepharon, Telecanthus, Aplasia/Hypoplasia of the skin, Abnormal pinn...	ORPHA:1231
Seckel Syndrome	Sparse scalp hair, Short stature, Abnormal dental enamel morphology, Cachexia, Micrognathia, Abno...	ORPHA:808
Ectodermal Dysplasia 7, Hair/Nail Type	Sparse scalp hair, Alopecia, Brittle hair, Sparse eyelashes, Abnormal sweat gland morphology, Spa...	OMIM:614929
Autosomal Recessive Multiple Pterygium Syndrome	Multiple pterygia, Abnormal eyelid morphology, Micrognathia, Orofacial cleft, Webbed neck, High p...	ORPHA:2990
Severe Generalized Junctional Epidermolysis Bullosa	Respiratory distress, Abnormal oral mucosa morphology, Paronychia, Abnormality of the nail, Alope...	ORPHA:79404
Noonan Syndrome 9	Curly hair, Short stature, Prominent corneal nerve fibers, Sparse eyebrow, Cryptorchidism, Webbed...	OMIM:616559
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome	Curly hair, Large for gestational age, Cryptorchidism, Asthma, Hypopigmented skin patches, Wide m...	ORPHA:457485
Monosomy 18P	Epicanthus, Alopecia, Short stature, Micrognathia, Carious teeth, Cleft palate, Low posterior hai...	ORPHA:1598
Hurler-Scheie Syndrome	Short stature, Corneal opacity, Splenomegaly, Sensorineural hearing impairment, Rhinitis, Hernia,...	ORPHA:93476
White-Sutton Syndrome	Mandibular prognathia, Congenital diaphragmatic hernia, Micrognathia, Downturned corners of mouth...	OMIM:616364
Andersen Cardiodysrhythmic Periodic Paralysis	Preauricular pit, Thin upper lip vermilion, Dental crowding, Short mandibular rami, Short stature...	OMIM:170390
Autosomal Dominant Robinow Syndrome	Micrognathia, High, narrow palate, Abnormality of the gingiva, Naevus flammeus of the eyelid, Dow...	ORPHA:3107
Ellis Van Creveld Syndrome	Abnormal hair quantity, Delayed eruption of teeth, Abnormal fingernail morphology, Abnormal oral ...	ORPHA:289
Nicolaides-Baraitser Syndrome	Dry hair, Short lingual frenulum, High, narrow palate, Low anterior hairline, Widely spaced teeth...	OMIM:601358
Cranioectodermal Dysplasia 1	Epicanthus, Telecanthus, Slow-growing hair, Short nail, Inguinal hernia, Thin nail, Rhizomelia, H...	OMIM:218330
Schwartz-Jampel Syndrome	Apnea, Micrognathia, Low anterior hairline, Microcornea, High palate, Decreased body weight, Wris...	ORPHA:800
2P15P16.1 Microdeletion Syndrome	Protruding ear, High palate, Facial palsy, Sparse eyebrow, Low-set ears, Narrow mouth, Retrognath...	ORPHA:261349
Pierpont Syndrome	Posteriorly rotated ears, Uplifted earlobe, High anterior hairline, Macrotia, Hearing impairment	ORPHA:487825
Prader-Willi Syndrome Due To Imprinting Mutation	Hypopigmentation of hair, Hypogonadotropic hypogonadism, Short stature, Obesity, Hypopigmentation...	ORPHA:177910
Herpes Simplex Virus Stromal Keratitis	Keratitis, Deep anterior chamber, Herpetiform corneal ulceration, Corneal stromal edema, Corneal ...	ORPHA:137599
Kyphoscoliotic Ehlers-Danlos Syndrome	Epicanthus, Inguinal hernia, Short stature, Micrognathia, Synophrys, Sensorineural hearing impair...	ORPHA:536545
Chromosome 3Pter-P25 Deletion Syndrome	Micrognathia, Synophrys, Downturned corners of mouth, High palate, Preauricular pit, Short statur...	OMIM:613792
Waardenburg Syndrome, Type 3	Mandibular prognathia, Telecanthus, Partial albinism, Camptodactyly of finger, Synophrys, Sensori...	OMIM:148820
Microcephaly-Brachydactyly-Kyphoscoliosis Syndrome	Macrotia, Low-set ears	ORPHA:3433
Charcot-Marie-Tooth Disease, Recessive Intermediate C	Decreased number of large peripheral myelinated nerve fibers, Steppage gait	OMIM:615376
Frontonasal Dysplasia 2	Telecanthus, Sparse eyelashes, Alopecia totalis, Blepharophimosis, Bilateral cryptorchidism, Spar...	OMIM:613451
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism	Thin upper lip vermilion, Tented upper lip vermilion, Highly arched eyebrow, Cryptorchidism, Low ...	OMIM:619244
Ulerythema Ophryogenesis	Dry skin, Erythematous papule, Facial erythema, Dermal atrophy, Follicular hyperkeratosis, Hyperk...	ORPHA:3406
W Syndrome	Telecanthus, Submucous cleft hard palate, Agenesis of maxillary central incisor, Abnormality of t...	ORPHA:2804
Choroidal Atrophy-Alopecia Syndrome	Abnormality of retinal pigmentation, Abnormal fingernail morphology, Supernumerary nipple, Bifid ...	ORPHA:1433
Dyskeratosis Congenita, Autosomal Recessive 6	Alopecia, Carious teeth, Abnormality of skin pigmentation, Nail dystrophy, Sparse hair, Intrauter...	OMIM:616353
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability	Cataract, Corneal opacity, Sensorineural hearing impairment, Optic atrophy, Bilateral cleft lip a...	ORPHA:1473
Joubert Syndrome 37	Posteriorly rotated ears, Short stature, Cryptorchidism, Obesity, High palate, Low-set ears, Spar...	OMIM:619185
Harel-Yoon Syndrome	Mandibular prognathia, Peripheral axonal neuropathy, Corneal opacity, Micrognathia, Optic atrophy...	OMIM:617183
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Respiratory distress, Multiple joint contractures, Micrognathia, Microcornea, High palate, Microd...	ORPHA:536467
Acute Myelomonocytic Leukemia	Eosinophilia, Dyspnea, Abnormality of the gingiva, Leukocytosis, Thrombocytopenia, Weight loss, P...	ORPHA:517
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Abnormal eyelid morphology, Hyperconvex fingernails, Conjunctivitis, Sparse hair, Abnormality of ...	ORPHA:2273
Noonan Syndrome 2	Curly hair, Epicanthus, Posteriorly rotated ears, Short stature, Micrognathia, Sparse eyebrow, Cr...	OMIM:605275
Bone Fragility With Contractures, Arterial Rupture, And Deafness	Contracture of the proximal interphalangeal joint of the 2nd finger, Cataract, Abnormality of the...	OMIM:612394
Mosaic Variegated Aneuploidy Syndrome 2	Epicanthus, Epidermoid cyst, Decreased response to growth hormone stimulation test, Small for ges...	OMIM:614114
Focal Dermal Hypoplasia	Ridged nail, Linear hyperpigmentation, Brittle hair, Congenital diaphragmatic hernia, Oligodontia...	OMIM:305600
Usher Syndrome Type 1	Cataract, Abnormal dental enamel morphology, Sensorineural hearing impairment, Abnormal cochlea m...	ORPHA:231169
Chromosome 6Pter-P24 Deletion Syndrome	Skin tags, Tented upper lip vermilion, Dental crowding, High palate, Ocular anterior segment dysg...	OMIM:612582
15Q13.3 Microdeletion Syndrome	Macrotia, Protruding ear	ORPHA:199318
Mucoepithelial Dysplasia, Hereditary	Alopecia, Cataract, Pneumonia, Eosinophilia, Rhinorrhea, Erythematous oral mucosa, Recurrent pneu...	OMIM:158310
Dilution, Pigmentary	Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation	OMIM:126070
Cardiofaciocutaneous Syndrome 3	Curly hair, Short stature, Wide mouth, Hyperkeratosis, Webbed neck, Failure to thrive	OMIM:615279
Spinocerebellar Ataxia 26	Cerebellar atrophy, Truncal ataxia, Limb ataxia, Gait ataxia	OMIM:609306
Congenital Disorder Of Glycosylation, Type Iy	Respiratory distress, Macrotia	OMIM:300934
Dermatitis, Atopic	Keratoconus, Cataract, Allergic rhinitis, Asthma, Facial erythema, Conjunctivitis, Pallor, Dry skin	OMIM:603165
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form	Failure to thrive, Nevus, Carious teeth, Skin erosion, Corneal erosion, Flexion contracture, Dela...	ORPHA:89842
Tooth Agenesis, Selective, X-Linked, 1	Agenesis of lateral incisor, Aplasia of the maxilla, Selective tooth agenesis, Agenesis of premol...	OMIM:313500
Albinism, Oculocutaneous, Type Ib	Hypopigmentation of hair, Hypopigmentation of the skin, Albinism	OMIM:606952
Rubinstein-Taybi Syndrome	Epicanthus, Telecanthus, Failure to thrive in infancy, Short stature, Highly arched eyebrow, Micr...	ORPHA:783
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome	Mandibular prognathia, Epicanthus, Vaginal hernia, Macrodontia, Abnormal dental enamel morphology...	ORPHA:2916
Amelogenesis Imperfecta, Hypoplastic/Hypomaturation, X-Linked 2	Amelogenesis imperfecta	OMIM:301201
Amelogenesis Imperfecta, Type Ib	Amelogenesis imperfecta	OMIM:104500
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits	Mandibular prognathia, Anteverted ears, Upslanted palpebral fissure, Narrow palpebral fissure, Sp...	OMIM:618087
Anauxetic Dysplasia 2	Short stature, Flexion contracture, Macroglossia, Hypodontia, Small nail, Nail dysplasia, Sparse ...	OMIM:617396
Moebius Syndrome	Epicanthus, Hypogonadotropic hypogonadism, Aplasia/Hypoplasia of the tongue, Hearing impairment, ...	ORPHA:570
Albinism, Oculocutaneous, Type Iv	Hypopigmentation of hair, Blue irides, Albinism	OMIM:606574
Gomez-Lopez-Hernandez Syndrome	Alopecia, Posteriorly rotated ears, Decreased response to growth hormone stimulation test, Short ...	OMIM:601853
Codas Syndrome	Delayed eruption of teeth, Epicanthus, Cataract, Abnormal dental morphology, Abnormal dental enam...	ORPHA:1458
East Syndrome	Cerebellar atrophy, Peripheral axonal neuropathy, Ataxia, Inability to walk, Hyperaldosteronism, ...	ORPHA:199343
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly	Epicanthus, Short stature, Postnatal growth retardation, Hyposegmentation of neutrophil nuclei, O...	OMIM:614800
Incisors, Shovel-Shaped	Shovel-shaped maxillary central incisors	OMIM:147400
Lipodystrophy, Familial Partial, Type 7	Lack of facial subcutaneous fat, Sparse hair, Decreased adipose tissue around neck, Absence of su...	OMIM:606721
Ectodermal Dysplasia With Natal Teeth, Turnpenny Type	Sparse scalp hair, Natal tooth, Sparse eyelashes, Short stature, Hypoplastic pilosebaceous units,...	OMIM:601345
Piebaldism	Macule, Hypopigmentation of hair, White eyelashes, White eyebrow, Synophrys, Piebaldism, Hypopigm...	ORPHA:2884
Bathing Suit Ichthyosis	Eclabion, Alopecia, Multiple joint contractures, Parakeratosis, Palmoplantar hyperkeratosis, Palm...	ORPHA:100976
Microcephaly With Chemotactic Defect And Transient Hypogammaglobulinemia	Macrotia, Protruding ear	OMIM:251240
Elsahy-Waters Syndrome	Mandibular prognathia, Bilateral cryptorchidism, Hypoplasia of the maxilla, Synophrys, High palat...	OMIM:211380
Microphthalmia With Linear Skin Defects Syndrome	Respiratory distress, Congenital diaphragmatic hernia, Micrognathia, Abnormal eyelid morphology, ...	ORPHA:2556
Björnstad Syndrome	Alopecia, Brittle hair	ORPHA:123
Juvenile Sialidosis Type 2	Inguinal hernia, Cataract, Corneal opacity, Protruding tongue, Optic atrophy, Gingival overgrowth...	ORPHA:93399
Ifap Syndrome 2	Cataract, Angular cheilitis, Keratitis, Posterior blepharitis, Keratoconjunctivitis sicca, Nail d...	OMIM:619016
Trisomy 20P	Micrognathia, Low anterior hairline, Protruding ear, Downturned corners of mouth, Coarse hair, Sh...	ORPHA:261318
Chops Syndrome	Curly hair, Chronic lung disease, Cataract, Short stature, Thick hair, Tracheomalacia, Cryptorchi...	OMIM:616368
Rapadilino Syndrome	Sparse scalp hair, Sparse eyelashes, Short stature, Sparse eyebrow, High, narrow palate, Cleft pa...	OMIM:266280
Arboleda-Tham Syndrome	Mandibular prognathia, Respiratory distress, Bilateral cryptorchidism, Anteverted ears, Downturne...	OMIM:616268
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency	Aplasia/Hypoplasia of the skin, Pulmonary embolism, Skin ulcer, Abnormality of skin pigmentation,...	ORPHA:743
3-Methylglutaconic Aciduria, Type Iv	Cryptorchidism, Cerebellar dysplasia	OMIM:250951
Mucopolysaccharidosis, Type Vii	Epicanthus, Severe short stature, Short stature, Corneal opacity, Postnatal growth retardation, S...	OMIM:253220
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities	Cerebellar vermis hypoplasia, Cerebellar hypoplasia, Cerebellar dysplasia	OMIM:616531
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	High, narrow palate, Synophrys, Protruding ear, Abnormality of skin pigmentation, Short philtrum,...	OMIM:619475
Hypertrichosis, Congenital Anterior Cervical, With Peripheral Sensory And Motor Neuropathy	Anterior cervical hypertrichosis	OMIM:239840
Developmental And Epileptic Encephalopathy 100	Delayed CNS myelination, Tented upper lip vermilion, Micrognathia, Protruding tongue, Synophrys, ...	OMIM:619777
Carvajal Syndrome	Woolly hair, Patchy palmoplantar hyperkeratosis	ORPHA:65282
Pseudohypoparathyroidism, Type Ic	Delayed eruption of teeth, Cataract, Short stature, Pseudohypoparathyroidism, Obesity, Hypogonadi...	OMIM:612462
Mucolipidosis Type Iii	Craniofacial hyperostosis, Inguinal hernia, Short stature, Corneal opacity, Cleft palate	ORPHA:577
Waardenburg Syndrome, Type 4A	White eyelashes, White eyebrow, Sensorineural hearing impairment, Blue irides, Hypopigmented skin...	OMIM:277580
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Splenomegaly, Leukocytosis, Growth delay, Nail dystrophy, Thin skin, Failure to thrive, Anemia, P...	OMIM:615895
Corneal Dystrophy-Perceptive Deafness Syndrome	Sensorineural hearing impairment, Corneal opacity, Corneal dystrophy	ORPHA:1490
Non-Functioning Pituitary Adenoma	Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio...	ORPHA:91349
Degcags Syndrome	Micrognathia, Synophrys, Low anterior hairline, Premature graying of hair, Abnormality of skin pi...	OMIM:619488
3Mc Syndrome 3	Sacral dimple, Abnormal pinna morphology, Short stature, Highly arched eyebrow, Cleft upper lip, ...	OMIM:248340
Mandibuloacral Dysplasia With Type A Lipodystrophy	Loss of subcutaneous adipose tissue in limbs, Sparse scalp hair, Alopecia, Reduced subcutaneous a...	OMIM:248370
Dominant Beta-Thalassemia	Extramedullary hematopoiesis, Anisocytosis, Malar prominence, Pallor, Hyperplasia of the maxilla,...	ORPHA:231226
Hurler Syndrome	Inguinal hernia, Short stature, Corneal opacity, Bilateral ptosis, Splenomegaly, Flexion contract...	OMIM:607014
Corneal Dystrophy, Epithelial Basement Membrane	Map-dot-fingerprint corneal dystrophy, Corneal dystrophy, Recurrent corneal erosions	OMIM:121820
Geroderma Osteodysplastica	Mandibular prognathia, Severe short stature, Redundant skin, Growth delay, Microcornea, Thin skin...	ORPHA:2078
Chung-Jansen Syndrome	Large earlobe, Synophrys, Macrotia, Thick eyebrow	OMIM:617991
Spinocerebellar Ataxia-Dysmorphism Syndrome	Low-set, posteriorly rotated ears, Epicanthus, Short stature, Optic atrophy, Downturned corners o...	ORPHA:1185
Autosomal Recessive Robinow Syndrome	Tented upper lip vermilion, Micrognathia, Orofacial cleft, Downturned corners of mouth, Short phi...	ORPHA:1507
Glycosylphosphatidylinositol Biosynthesis Defect 25	Delayed CNS myelination, Short stature, Ankle flexion contracture, Coarse hair, Sparse hair	OMIM:619985
Congenital Insensitivity To Pain With Severe Intellectual Disability	Delayed CNS myelination, Small for gestational age, Micrognathia, Keratitis, Corneal erosion, Sho...	ORPHA:453510
Pseudohypoparathyroidism, Type Ia	Delayed eruption of teeth, Cataract, Short stature, Pseudohypoparathyroidism, Obesity, Hypogonadi...	OMIM:103580
Chromosome 16Q22 Deletion Syndrome	Epicanthus, Posteriorly rotated ears, Small for gestational age, Highly arched eyebrow, Micrognat...	OMIM:614541
Congenital Disorder Of Glycosylation, Type Iq	Cataract, Microcytic anemia, Optic atrophy, Dry skin, Cutis laxa, Abnormality of skin pigmentatio...	OMIM:612379
Onychotrichodysplasia And Neutropenia	Curly hair, Chronic irritative conjunctivitis, Chronic neutropenia, Curly eyelashes, Concave nail...	OMIM:258360
Hurler-Scheie Syndrome	Inguinal hernia, Short stature, Camptodactyly of finger, Corneal opacity, Micrognathia, Contractu...	OMIM:607015
Yemenite Deaf-Blind Hypopigmentation Syndrome	Patchy hypo- and hyperpigmentation, Microcornea, Numerous pigmented freckles, White forelock, Sev...	OMIM:601706
Acrodysostosis 2 With Or Without Hormone Resistance	Mandibular prognathia, Cryptorchidism, Blue irides, Obesity, Red hair, Malar flattening, Fair hai...	OMIM:614613
Ichthyosis, Congenital, Autosomal Recessive 1	Alopecia, Parakeratosis, Flexion contracture, Palmoplantar hyperkeratosis, Everted lower lip verm...	OMIM:242300
Severe Hereditary Thrombophilia Due To Congenital Protein C Deficiency	Aplasia/Hypoplasia of the skin, Pulmonary embolism, Abnormality of skin pigmentation, Thin skin, ...	ORPHA:745
Dyskeratosis Congenita, Autosomal Dominant 3	Alopecia, Pancytopenia, Short stature, Aplastic anemia, Reticulated skin pigmentation, Cryptorchi...	OMIM:613990
Branchio-Oculo-Facial Syndrome	Deep philtrum, Orofacial cleft, Postauricular pit, Premature graying of hair, Microcornea, High p...	ORPHA:1297
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome	Mandibular prognathia, Peripheral axonal neuropathy, Cataract, Corneal opacity, Optic nerve hypop...	ORPHA:496790
Bilateral Striopallidodentate Calcinosis	Intrauterine growth retardation, Corneal opacity, Thrombocytopenia	ORPHA:1980
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome	Delayed CNS myelination, Synophrys, Gingival overgrowth, Fine hair, Growth delay, Long philtrum, ...	OMIM:619428
Congenital Sialidosis Type 2	Inguinal hernia, Cataract, Corneal opacity, Protruding tongue, Optic atrophy, Gingival overgrowth...	ORPHA:93400
Heimler Syndrome 2	Dental crowding, Sensorineural hearing impairment, Leukonychia, Beau's lines, Amelogenesis imperf...	OMIM:616617
Dermatosparaxis Ehlers-Danlos Syndrome	Epicanthus, Inguinal hernia, Abnormality of subcutaneous fat tissue, Femoral hernia, Scarring, Mi...	ORPHA:1901
Arterial Tortuosity Syndrome	Respiratory distress, Keratoconus, Inguinal hernia, Femoral hernia, Redundant skin, Hiatus hernia...	ORPHA:3342
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia	Hypogonadotropic hypogonadism, Diastema, Cryptorchidism, Supernumerary tooth, Agenesis of molar, ...	OMIM:619718
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma	Premature graying of hair, Presenile cataracts, Thin skin	OMIM:112250
Nablus Mask-Like Facial Syndrome	Hypoplasia of the maxilla, Low anterior hairline, High palate, Sparse hair, Small earlobe, Highly...	OMIM:608156
Nail-Patella Syndrome	Contracture of the distal interphalangeal joint of the fingers, Achilles tendon contracture, Flex...	ORPHA:2614
Chromosome Xq27.3-Q28 Duplication Syndrome	Small for gestational age, Short stature, Cryptorchidism, Increased circulating gonadotropin leve...	OMIM:300869
Ehlers-Danlos Syndrome, Periodontal Type, 1	Alveolar bone loss around teeth, Inguinal hernia, Hiatus hernia, Pretibial hyperpigmentation, Atr...	OMIM:130080
Dyskeratosis Congenita, Autosomal Dominant 1	Ridged nail, Alopecia, Aplastic anemia, Carious teeth, Dyspnea, Thrombocytopenia, Nail pits, Reti...	OMIM:127550
Abetalipoproteinemia	CNS demyelination, Ataxia, Peripheral demyelination	OMIM:200100
Oculocutaneous Albinism, Type Viii	Iris transillumination defect, Hypopigmentation of hair, Hypopigmentation of the skin	OMIM:619165
Werner Syndrome	Abnormal hair whorl, Premature graying of hair, Aplasia/Hypoplasia of the skin, Short stature, La...	ORPHA:902
Chilton-Okur-Chung Neurodevelopmental Syndrome	Mandibular prognathia, Septo-optic dysplasia, Hooded eyelid, Anterior pituitary hypoplasia, Uplif...	OMIM:619841
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement	Dental crowding, Micrognathia, High palate, Short philtrum, Sparse hair, Microdontia, Abnormality...	ORPHA:251028
Oculocerebrocutaneous Syndrome	Alopecia, Focal dermal aplasia/hypoplasia, Cryptorchidism, Orbital cyst, Cleft palate, Eyelid col...	OMIM:164180
Barber-Say Syndrome	Mandibular prognathia, Redundant skin, Micrognathia, Hypoplasia of the maxilla, Low anterior hair...	OMIM:209885
Failure Of Tooth Eruption, Primary	Failure of eruption of permanent teeth, Hypodontia, Persistence of primary teeth	OMIM:125350
Nance-Horan Syndrome	Diastema, Developmental cataract, Microcornea, Screwdriver-shaped incisors, Mulberry molar, Poste...	OMIM:302350
Beta-Thalassemia Major	Extramedullary hematopoiesis, Malar prominence, Pallor, Hyperplasia of the maxilla, Hypoparathyro...	ORPHA:231214
Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome	Abnormal hair morphology, Supernumerary tooth, Thin vermilion border, Thick vermilion border, Ell...	ORPHA:86818
Stimmler Syndrome	Microdontia, Intrauterine growth retardation, Short stature, Abnormal dental enamel morphology	ORPHA:3199
Charcot-Marie-Tooth Disease, Type 4B1	Myelin outfoldings, Irregular myelin loops, Facial palsy	OMIM:601382
Zellweger Syndrome	Epicanthus, Posterior embryotoxon, Short stature, Corneal opacity, Cataract, Micrognathia, Extern...	ORPHA:912
Al Kaissi Syndrome	Thin upper lip vermilion, Epicanthus, Telecanthus, Macrodontia, Posteriorly rotated ears, Abnorma...	OMIM:617694
Orofaciodigital Syndrome Type 1	Brittle hair, Micrognathia, Lobulated tongue, Coarse hair, High palate, Sparse hair, Alopecia, Ab...	ORPHA:2750
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form	Erosion of oral mucosa, Foot joint contracture, Oral mucosal blisters, Carious teeth, Corneal ero...	ORPHA:79408
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1	Cerebellar vermis hypoplasia, Facial palsy, Inability to walk, Cerebellar hypoplasia, Cerebellar ...	OMIM:613155
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type	Curly hair, Epicanthus, Short stature, Micrognathia, Almond-shaped palpebral fissure, Wide mouth,...	OMIM:300986
Charcot-Marie-Tooth Disease, Type 4D	Segmental peripheral demyelination/remyelination, Unsteady gait, Axonal loss, Gait disturbance, O...	OMIM:601455
Junctional Epidermolysis Bullosa With Pyloric Atresia	Oral mucosal blisters, Nail dystrophy, Aplasia cutis congenita, Pterygium, Enamel hypoplasia, Ect...	ORPHA:79403
Amoebic Keratitis	Iris atrophy, Cataract, Abnormal corneal epithelium morphology, Abnormal anterior chamber morphol...	ORPHA:67043
Charlie M Syndrome	Abnormal toenail morphology, Macrotia, Abnormal fingernail morphology	ORPHA:1406
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis	Parakeratosis, Erythema, Leukonychia, Tooth agenesis, Hyperkeratosis, Palmoplantar keratoderma, N...	OMIM:615821
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome	Craniofacial hyperostosis, Abnormal pinna morphology, Facial palsy, Hypogonadotropic hypogonadism...	ORPHA:3068
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies	Macrotia, Frontal upsweep of hair, Apnea	OMIM:619797
Gm1 Gangliosidosis	Mandibular prognathia, Inguinal hernia, Failure to thrive, Short stature, Camptodactyly of finger...	ORPHA:354
Spinocerebellar Ataxia 4	Cerebellar atrophy, Progressive cerebellar ataxia, Limb dysmetria	OMIM:600223
Neuropathy, Hereditary Sensory And Autonomic, Type Viii	Sensorineural hearing impairment, Corneal ulceration, Corneal scarring	OMIM:616488
Corneal Dystrophy, Lattice Type I	Lattice corneal dystrophy, Recurrent corneal erosions	OMIM:122200
Kindler Epidermolysis Bullosa	Aplasia/Hypoplasia of the skin, Corneal opacity, Abnormal dental enamel morphology, Premature los...	ORPHA:2908
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation	Respiratory distress, Thin upper lip vermilion, Epicanthus, Telecanthus, Tented upper lip vermili...	ORPHA:438216
Deafness With Labyrinthine Aplasia, Microtia, And Microdontia	Skin tags, Conical tooth, Micrognathia, Synophrys, Supernumerary tooth, Sensorineural hearing imp...	ORPHA:90024
Ectodermal Dysplasia 15, Hypohidrotic/Hair Type	Sparse scalp hair, Sparse eyelashes, Slow-growing hair, Sparse hair, Sparse body hair	OMIM:618535
Marshall Syndrome	Cataract, Sparse eyelashes, Short stature, Micrognathia, Hypoplasia of the maxilla, Sparse eyebro...	ORPHA:560
Hawkinsinuria	Sparse hair, Failure to thrive, Fine hair	ORPHA:2118
Cenani-Lenz Syndrome	Ptosis, Cataract, Abnormal dental enamel morphology, Hearing impairment, High, narrow palate, Pro...	ORPHA:3258
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1	Keratoconus, Inguinal hernia, Epicanthus, Dental crowding, Recurrent pneumonia, Respiratory insuf...	OMIM:225400
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism	Hypergonadotropic hypogonadism, Short stature, Secondary amenorrhea, Polycystic ovaries, Pigmenta...	OMIM:268020
Griscelli Syndrome Type 3	Hypopigmentation of hair, Partial albinism, Iris hypopigmentation	ORPHA:79478
Allan-Herndon-Dudley Syndrome	Prominent antihelix, Macrotia, Stahl ear, Underfolded superior helices	OMIM:300523
Galactosialidosis	Corneal opacity, Hearing impairment	ORPHA:351
Otofaciocervical Syndrome	Protruding ear, Abnormal antihelix morphology, Atresia of the external auditory canal, Conductive...	ORPHA:2792
Pachyonychia Congenita	Respiratory distress, Natal tooth, Alopecia, Epidermoid cyst, Angular cheilitis, Paronychia, Onyc...	ORPHA:2309
Terminal Osseous Dysplasia	Epicanthus, Telecanthus, Multiple joint contractures, Camptodactyly of finger, Accessory oral fre...	OMIM:300244
Infantile Sialic Acid Storage Disease	Epicanthus, Failure to thrive, Splenomegaly, Vacuolated lymphocytes, Gingival overgrowth, High pa...	OMIM:269920
Dentin Dysplasia	Abnormal dental morphology, Abnormal dental enamel morphology	ORPHA:1653
Ataxia-Telangiectasia	Lymphopenia, Hypopigmentation of hair, Aplasia/Hypoplasia of the skin, Failure to thrive, Short s...	ORPHA:100
Peho Syndrome	Cerebellar atrophy, Neuronal loss in central nervous system, Optic atrophy, Peripheral dysmyelina...	OMIM:260565
Posterior Column Ataxia With Retinitis Pigmentosa	Broad-based gait, Optic atrophy, Peripheral demyelination, Ataxia	OMIM:609033
Myasthenic Syndrome, Congenital, 1B, Fast-Channel	Respiratory insufficiency due to muscle weakness, Macrotia	OMIM:608930
Leishmaniasis	Pancytopenia, Abnormal macrophage morphology, Abnormal oral mucosa morphology, Thrombocytopenia, ...	ORPHA:507
Familial Cervical Artery Dissection	Facial palsy, Abnormality of connective tissue, Thin skin, Striae distensae	ORPHA:36382
Prolactinoma	Pallor, Male hypogonadism, Hypogonadotropic hypogonadism, Decreased fertility in males, Delayed p...	ORPHA:2965
S-Adenosylhomocysteine Hydrolase Deficiency	Abnormality of the dentition, Abnormality of hair texture, Delayed myelination, CNS hypomyelinati...	ORPHA:88618
Warburg Micro Syndrome 3	Cataract, Micrognathia, Postnatal growth retardation, Flexion contracture, Low anterior hairline,...	OMIM:614222
Hoyeraal-Hreidarsson Syndrome	Abnormal leukocyte morphology, Sparse scalp hair, Generalized hyperpigmentation, Short stature, T...	ORPHA:3322
Spinocerebellar Degeneration-Corneal Dystrophy Syndrome	Corneal opacity, Corneal dystrophy	ORPHA:3177
Desbuquois Syndrome	Low-set, posteriorly rotated ears, Severe short stature, Camptodactyly of finger, Abnormal eyelas...	ORPHA:1425
Baraitser-Winter Syndrome 1	Thin upper lip vermilion, Epicanthus, Failure to thrive, Short stature, Highly arched eyebrow, Cl...	OMIM:243310
Hypopigmentation, Organomegaly, And Delayed Myelination And Development	Epicanthus, Hypopigmentation of hair, Delayed CNS myelination, Short stature, Splenomegaly, Growt...	OMIM:618541
Mucopolysaccharidosis-Plus Syndrome	Respiratory distress, Epicanthus, Telecanthus, Delayed CNS myelination, Thrombocytopenia, Synophr...	OMIM:617303
Obesity Due To Prohormone Convertase I Deficiency	Hypopigmentation of the skin, Decreased response to growth hormone stimulation test, Increased ad...	ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency	Hypopigmentation of the skin, Decreased response to growth hormone stimulation test, Increased ad...	ORPHA:71526
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects	Smooth philtrum, Thin upper lip vermilion, Stapes ankylosis, Short stature, Highly arched eyebrow...	OMIM:614701
Intellectual Disability-Obesity-Brain Malformations-Facial Dysmorphism Syndrome	Large fleshy ears, Synophrys, Abnormal pinna morphology, Horizontal eyebrow	ORPHA:352530
Ectodermal Dysplasia 11B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive	Absent eyebrow, Sparse scalp hair, Absent nipple, Sparse eyelashes, Conical tooth, Absent eyelash...	OMIM:614941
Bartsocas-Papas Syndrome 2	Corneal opacity, Accessory oral frenulum, Micrognathia, Antecubital pterygium, Ankyloblepharon, B...	OMIM:619339
Taurodontism	Taurodontia	OMIM:272700
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Persistence of hemoglobin F, Splenomegaly, Pallor, Anemia	ORPHA:46532
X-Linked Ehlers-Danlos Syndrome	Inguinal hernia, Short stature, Thin skin, Hernia, Umbilical hernia	ORPHA:75497
Anemia, Congenital Dyserythropoietic, Type Ib	Reticulocytosis, Short stature, Anemia of inadequate production, Anisocytosis, Splenomegaly, Grow...	OMIM:615631
Bainbridge-Ropers Syndrome	Dental crowding, Micrognathia, Synophrys, Contracture of the proximal interphalangeal joint of th...	OMIM:615485
Vogt-Koyanagi-Harada Disease	Abnormal eyebrow morphology, Sparse scalp hair, Cataract, Short stature, Poliosis, Abnormal eyela...	ORPHA:3437
Autosomal Recessive Spastic Paraplegia Type 39	Cerebellar atrophy, Atrophy of the spinal cord, Motor axonal neuropathy, Gait ataxia	ORPHA:139480
Mucopolysaccharidosis Type 1	Inguinal hernia, Sinusitis, Short stature, Apnea, Corneal opacity, Splenomegaly, Sensorineural he...	ORPHA:579
Corneal Dystrophy, Posterior Polymorphous, 2	Corneal opacity, Corneal dystrophy	OMIM:609140
Hennekam Syndrome	Delayed eruption of teeth, Lymphopenia, Epicanthus, Abnormal dental morphology, Abnormal oral muc...	ORPHA:2136
Pde4D Haploinsufficiency Syndrome	Mandibular prognathia, Thin upper lip vermilion, Posteriorly rotated ears, Abnormal dental enamel...	ORPHA:439822
Microcephaly-Capillary Malformation Syndrome	Small for gestational age, Short stature, Hearing impairment, Hypoplasia of the maxilla, Abnormal...	OMIM:614261
Brittle Cornea Syndrome	Corneal dystrophy, Abnormality of the dentition, Sensorineural hearing impairment, Corneal erosio...	ORPHA:90354
Corneal Dystrophy, Lattice Type Iiia	Corneal erosion, Lattice corneal dystrophy	OMIM:608471
Waardenburg Syndrome	Abnormal eyebrow morphology, Hypopigmentation of hair, Telecanthus, Hearing impairment, Synophrys...	ORPHA:3440
Trichohepatoneurodevelopmental Syndrome	Dental crowding, Synophrys, Downturned corners of mouth, Coarse hair, High palate, Widely spaced ...	OMIM:618268
Weaver Syndrome	Mandibular prognathia, Deep-set nails, Epicanthus, Inguinal hernia, Delayed CNS myelination, Thin...	OMIM:277590
Ehlers-Danlos Syndrome, Dermatosparaxis Type	Redundant skin, Micrognathia, Short stature, Gingival overgrowth, Gingival hyperkeratosis, Thick ...	OMIM:225410
X-Linked Agammaglobulinemia	Alopecia, Sinusitis, Short stature, Thrombocytopenia, Sensorineural hearing impairment, Recurrent...	ORPHA:47
8Q21.11 Microdeletion Syndrome	Epicanthus, Cataract, Exaggerated cupid's bow, Camptodactyly of finger, Hearing impairment, Micro...	ORPHA:284160
Rafiq Syndrome	Highly arched eyebrow, Long eyebrows, Sparse eyebrow, Low-set ears, Macrotia, Broad eyebrow, Spar...	OMIM:614202
Peters-Plus Syndrome	Short lingual frenulum, Bilobate gallbladder, Micrognathia, Hypoplasia of the maxilla, Peters ano...	OMIM:261540
Lateral Meningocele Syndrome	Telecanthus, Inguinal hernia, Dental crowding, Posteriorly rotated ears, Short stature, Micrognat...	OMIM:130720
Lessel-Kubisch Syndrome	Short stature, Sparse pubic hair, Premature graying of hair, Hypogonadism, Narrow mouth	OMIM:618681
Chronic Mucocutaneous Candidiasis	Dyspareunia, Abnormal fingernail morphology, Abnormal dental enamel morphology, Erythema, Cheilit...	ORPHA:1334
Renpenning Syndrome	Abnormal hairshaft morphology, Alopecia, Sensorineural hearing impairment, Thin eyebrow, Round ea...	ORPHA:3242
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3	Mandibular prognathia, High, narrow palate, Deep philtrum, Low anterior hairline, Downturned corn...	OMIM:619950
Prader-Willi Syndrome Due To Translocation	Respiratory distress, Decreased response to growth hormone stimulation test, Anterior pituitary h...	ORPHA:177907
Wieacker-Wolff Syndrome	U-Shaped upper lip vermilion, Neonatal respiratory distress, Short stature, Facial palsy, Apnea, ...	OMIM:314580
Osteogenesis Imperfecta, Type Xx	Mandibular prognathia, Tented upper lip vermilion, Posteriorly rotated ears, Highly arched eyebro...	OMIM:618644
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Dental crowding, Micrognathia, High palate, Conductive hearing impairment, Aspiration, Short stat...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Dental crowding, Micrognathia, High palate, Conductive hearing impairment, Aspiration, Short stat...	ORPHA:353277
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Abnormal fingernail morphology, Thromboc...	ORPHA:75564
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome	Dilated fourth ventricle, Cerebellar dysplasia, Ataxia, Elongated superior cerebellar peduncle, I...	ORPHA:370022
Neurodevelopmental Disorder With Hypotonia, Seizures, And Absent Language	Sparse eyebrow, Macrotia, Thick eyebrow	OMIM:617268
Retinitis Pigmentosa With Or Without Skeletal Anomalies	Sparse eyelashes, Short stature, Micrognathia, Sparse eyebrow, Cafe-au-lait spot, Thick vermilion...	OMIM:250410
Kabuki Syndrome 2	Micrognathia, Protruding ear, High palate, Short stature, Highly arched eyebrow, Low-set ears, Lo...	OMIM:300867
Atopic Keratoconjunctivitis	Corneal opacity, Abnormal eyelid morphology, Keratitis, Loss of eyelashes, Keratoconjunctivitis s...	ORPHA:163934
Macrocephaly/Autism Syndrome	Epicanthus, Large for gestational age, Splenomegaly, Obesity, Cutis laxa, Hydrocele testis, Coars...	OMIM:605309
Intellectual Disability-Muscle Weakness-Short Stature-Facial Dysmorphism Syndrome	Short stature, Highly arched eyebrow, Carious teeth, Thick lower lip vermilion, Narrow palate, Na...	ORPHA:457365
Chand Syndrome	Curly hair, Cleft palate, Ankyloblepharon, Agenesis of permanent teeth, Dry skin, Abnormal oral f...	ORPHA:1401
Fused Mandibular Incisors	Advanced eruption of teeth, Abnormality of the dentition	ORPHA:2287
Dermotrichic Syndrome	Macrotia, Nail dystrophy, Hyperconvex toenail	ORPHA:99688
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly	Epicanthus, Short lingual frenulum, Short stature, Short uvula, Cleft palate, Fine hair, Agenesis...	OMIM:614091
Progeria-Short Stature-Pigmented Nevi Syndrome	Multiple joint contractures, Selective tooth agenesis, Lack of facial subcutaneous fat, Micrognat...	ORPHA:2959
Waardenburg Syndrome, Type 2B	Premature graying of hair, Sensorineural hearing impairment, White forelock, Heterochromia iridis	OMIM:600193
Naegeli-Franceschetti-Jadassohn Syndrome	Carious teeth, Premature loss of teeth, Fragile nails	OMIM:161000
Opitz-Kaveggia Syndrome	Skin tags, Multiple joint contractures, Dental crowding, Micrognathia, Sparse hair, Simple ear, S...	OMIM:305450
Netherton Syndrome	Sparse scalp hair, Sparse eyelashes, Short stature, Sparse eyebrow, Abnormal hair morphology, Ast...	ORPHA:634
Epidermolysis Bullosa With Congenital Localized Absence Of Skin And Deformity Of Nails	Nail dystrophy, Congenital localized absence of skin, Oral mucosal blisters	OMIM:132000
Corneal Dystrophy, Endothelial, X-Linked	Corneal opacity, Corneal dystrophy, Band keratopathy	OMIM:300779
Lethal Congenital Contracture Syndrome 8	Facial diplegia, Peripheral hypomyelination	OMIM:616287
Chondrodysplasia Punctata 2, X-Linked Dominant	Cataract, Sparse eyelashes, Abnormal pinna morphology, Rhizomelia, Sparse eyebrow, Postnatal grow...	OMIM:302960
Angelman Syndrome Due To A Point Mutation	Mandibular prognathia, Hypopigmentation of hair, Protruding tongue, Obesity, Wide mouth, Widely s...	ORPHA:411511
Cleidocranial Dysplasia	Mandibular prognathia, Delayed eruption of teeth, Sinusitis, Short stature, Abnormal dental ename...	ORPHA:1452
Multicentric Osteolysis, Nodulosis, And Arthropathy	Delayed eruption of teeth, Hip contracture, Peripheral opacification of the cornea, Short stature...	OMIM:259600
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type	Hearing impairment, Postnatal growth retardation, Cryptorchidism, Neonatal asphyxia, Cleft palate...	ORPHA:2728
Cednik Syndrome	Sensorineural hearing impairment, Macrotia	ORPHA:66631
Wagro Syndrome	Mandibular prognathia, Cataract, Dental crowding, Corneal opacity, Micrognathia, Obesity, Impaire...	OMIM:612469
Pseudohypoparathyroidism Type 1C	Delayed eruption of teeth, Cataract, Osteoma cutis, Decreased response to growth hormone stimulat...	ORPHA:79444
Qazi-Markouizos Syndrome	Cryptorchidism, High, narrow palate, Hypoplasia of teeth, Small nail, Open mouth, Broad philtrum	ORPHA:3010
Trichohepatoenteric Syndrome 1	Brittle hair, Sparse hair, Intrauterine growth retardation, Bifid uvula, Short stature, Increased...	OMIM:222470
Phip-Related Behavioral Problems-Intellectual Disability-Obesity-Dysmorphic Features Syndrome	Recurrent otitis media, Synophrys, Macrotia	ORPHA:589905
Marshall Syndrome	Epicanthus, Cataract, Short stature, Malar flattening, Micrognathia, Absent frontal sinuses, Lens...	OMIM:154780
Waardenburg Syndrome, Type 4B	White eyelashes, White eyebrow, Sensorineural hearing impairment, Blue irides, Hypopigmented skin...	OMIM:613265
Hajdu-Cheney Syndrome	Micrognathia, Absent frontal sinuses, Synophrys, Low anterior hairline, Downturned corners of mou...	ORPHA:955
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form	Inguinal hernia, Short stature, Abnormality of hair texture, Megaloblastic anemia, Delayed myelin...	ORPHA:79351
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion	Mandibular prognathia, Hypopigmentation of hair, Protruding tongue, Delayed myelination, Obesity,...	ORPHA:98794
Hermansky-Pudlak Syndrome 3	Spontaneous, recurrent epistaxis, Hypopigmentation of hair, Albinism, Gingival bleeding, Hypopigm...	OMIM:614072
Noonan Syndrome 1	Amegakaryocytic thrombocytopenia, Micrognathia, High, narrow palate, High palate, Male infertilit...	OMIM:163950
Cushing Syndrome Due To Ectopic Acth Secretion	Adrenal hyperplasia, Pancreatoblastoma, Pituitary corticotropic cell adenoma, Pancreatic endocrin...	ORPHA:99889
Malocclusion Due To Protuberant Upper Front Teeth	Dental malocclusion	OMIM:154300
3M Syndrome	Delayed eruption of teeth, Short stature, Abnormal dental enamel morphology, Decreased fertility,...	ORPHA:2616
Ectodermal Dysplasia/Skin Fragility Syndrome	Absent eyebrow, Absent eyelashes, Palmoplantar hyperkeratosis, Nail dystrophy, Scaling skin, Spar...	OMIM:604536
Giant Axonal Neuropathy	Facial palsy, Abnormal pituitary gland morphology, CNS hypomyelination, Diffuse axonal swelling, ...	ORPHA:643
Chromosome 8Q21.11 Deletion Syndrome	Epicanthus, Cataract, Exaggerated cupid's bow, Sclerocornea, Micrognathia, Cryptorchidism, Sensor...	OMIM:614230
Darier Disease	Macule, Acrokeratosis, Hypermelanotic macule, Abnormal hair morphology, Plantar pits, Abnormality...	ORPHA:218
Charcot-Marie-Tooth Disease, Dominant Intermediate E	Axonal loss, Steppage gait, Onion bulb formation	OMIM:614455
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome	Uplifted earlobe, Large for gestational age, Palmoplantar hyperkeratosis, Short philtrum, Widely ...	OMIM:280000
Dystrophic Epidermolysis Bullosa Pruriginosa	Scarring, Subcutaneous nodule, Hyperkeratosis, Atrophic scars, Nail dystrophy, Dermal atrophy, Ab...	ORPHA:89843
Waardenburg-Shah Syndrome	Abnormal eyebrow morphology, Hypopigmentation of hair, Telecanthus, White eyelashes, White eyebro...	ORPHA:897
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency	Inguinal hernia, Brittle hair, Dental crowding, Ectopia lentis, High palate, Lens subluxation, Fa...	OMIM:236200
Bjornstad Syndrome	Alopecia, Brittle hair, Dry hair, Coarse hair, Hair shafts flattened at irregular intervals and t...	OMIM:262000
Smith-Lemli-Opitz Syndrome	Congenital diaphragmatic hernia, Micrognathia, Sclerocornea, Advanced eruption of teeth, Iris col...	ORPHA:818
Albinism, Oculocutaneous, Type Ii	Hypopigmentation of hair, Freckles in sun-exposed areas, Albinism, Blue irides, Red hair, Hypopig...	OMIM:203200
Waardenburg Syndrome, Type 2A	White eyelashes, White eyebrow, Partial albinism, Albinism, Synophrys, Sensorineural hearing impa...	OMIM:193510
Dermatoleukodystrophy	Macrotia	OMIM:221790
Bosma Arhinia Microphthalmia Syndrome	Inguinal hernia, Paranasal sinus hypoplasia, Abnormal pinna morphology, Hypogonadotropic hypogona...	OMIM:603457
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Severe B lymphocytopenia, Micrognathia, Cough, Sparse hair, Microdontia, Intrauterine growth reta...	OMIM:620005
Rere-Related Neurodevelopmental Syndrome	Low-set, posteriorly rotated ears, Epicanthus, Hearing impairment, Micrognathia, Postnatal growth...	ORPHA:494344
Papillon-Lefèvre Syndrome	Severe periodontitis, Abnormal fingernail morphology, Premature loss of primary teeth, Abnormalit...	ORPHA:678
Autosomal Recessive Myogenic Arthrogryposis Multiplex Congenita	Macrotia	ORPHA:319332
Autosomal Recessive Faciodigitogenital Syndrome	Dry hair, Hypopigmentation of hair, Telecanthus, Posteriorly rotated ears, Short stature, Microgn...	ORPHA:1974
Nance-Horan Syndrome	Mandibular prognathia, Cataract, Abnormality of the dentition, Supernumerary tooth, Protruding ea...	ORPHA:627
Spastic Paraplegia 39, Autosomal Recessive	Cerebellar atrophy, Atrophy of the spinal cord, Ataxia, Gait disturbance	OMIM:612020
Dermatoosteolysis, Kirghizian Type	Aplasia/Hypoplasia of the skin, Abnormality of the dentition, Keratitis, Skin ulcer, Oligodontia,...	ORPHA:1657
Muenke Syndrome	Hypopigmentation of hair, Hypermelanotic macule, High, narrow palate, Sensorineural hearing impai...	ORPHA:53271
X-Linked Intellectual Disability, Golabi-Ito-Hall Type	Epicanthus, Brittle hair, Dry hair, Short stature, Cupped ear, Protruding ear, Upslanted palpebra...	ORPHA:93947
Lymphedema-Distichiasis Syndrome	Ptosis, Cataract, Cleft upper lip, Corneal erosion, Cleft palate, Conjunctivitis, Webbed neck, Di...	ORPHA:33001
Steroid Dehydrogenase Deficiency-Dental Anomalies Syndrome	Supernumerary tooth, Abnormal dental enamel morphology, Enamel hypoplasia	ORPHA:3196
Distal Deletion 10P	Low-set, posteriorly rotated ears, Abnormal fingernail morphology, Hypoplastic toenails, Hearing ...	ORPHA:1580
Olmsted Syndrome 2	Parakeratosis, Perioral hyperkeratosis, Cheilitis, Palmoplantar hyperkeratosis, Hyperkeratosis, P...	OMIM:619208
Acrocallosal Syndrome	Mandibular prognathia, Downturned corners of mouth, High palate, Short philtrum, Prominent palati...	OMIM:200990
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome	Streak ovary, Abnormal peripheral myelination, Testicular dysgenesis, Primary amenorrhea, Steppag...	ORPHA:168563
Distal Duplication 18Q	Low-set, posteriorly rotated ears, Abnormal dental morphology, Camptodactyly of finger, Abnormal ...	ORPHA:1716
Pseudohypoparathyroidism Type 1A	Delayed eruption of teeth, Cataract, Osteoma cutis, Decreased response to growth hormone stimulat...	ORPHA:79443
Epidermolysis Bullosa, Lethal Acantholytic	Natal tooth, Alopecia totalis, Aplasia cutis congenita, Acantholysis, Absent fingernail, Neonatal...	OMIM:609638
Spastic Paraplegia 11, Autosomal Recessive	Decreased number of peripheral myelinated nerve fibers, Ataxia, Degeneration of the lateral corti...	OMIM:604360
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive	Keratoconus, Alopecia, Short stature, Sensorineural hearing impairment, Palmoplantar keratoderma,...	OMIM:242150
Cleft Lip/Palate	Agenesis of lateral incisor, Bilateral cleft palate, Hypoplasia of the maxilla, Conductive hearin...	ORPHA:199306
Exostoses-Anetodermia-Brachydactyly Type E Syndrome	Macule, Aplasia/Hypoplasia of the skin, Dermal atrophy	ORPHA:1962
Amaurosis-Hypertrichosis Syndrome	Abnormal eyelash morphology, Synophrys, Optic atrophy, Coarse hair, Thick eyebrow	ORPHA:1021
Ritscher-Schinzel Syndrome 4	Curly hair, Short stature, Cryptorchidism, Narrow palate, Wide mouth, High palate, Short philtrum...	OMIM:619435
Distal Deletion 12Q	Micrognathia, High, narrow palate, Short stature, Supernumerary tooth, Obesity, Microtia, Low-set...	ORPHA:96149
Cerebrofaciothoracic Dysplasia	Low-set, posteriorly rotated ears, Epicanthus, Short stature, Abnormal hair pattern, Cleft upper ...	ORPHA:1394
Codas Syndrome	Delayed eruption of teeth, Omphalocele, Cataract, Short stature, Cryptorchidism, Sensorineural he...	OMIM:600373
Scalp-Ear-Nipple Syndrome	Delayed eruption of teeth, Telecanthus, Cataract, Palpebral edema, Abnormal fingernail morphology...	ORPHA:2036
Mucopolysaccharidosis, Type Iiic	Hearing impairment, Splenomegaly, Synophrys, Coarse hair, Everted lower lip vermilion, Hernia, Hi...	OMIM:252930
Prader-Willi Syndrome	Decreased response to growth hormone stimulation test, Downturned corners of mouth, Hypopigmentat...	OMIM:176270
Pallister-Killian Syndrome	Tented upper lip vermilion, Congenital diaphragmatic hernia, Micrognathia, Flexion contracture, H...	OMIM:601803
Acrofacial Dysostosis, Catania Type	Preauricular pit, Short stature, Carious teeth, Cryptorchidism, Widow's peak, Intrauterine growth...	OMIM:101805
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency	Conical tooth, Increased T cell count, Growth delay, Nail dystrophy, Recurrent sinusitis, Increas...	ORPHA:98813
Prolidase Deficiency	Petechiae, Micrognathia, Thrombocytopenia, Asthma, Recurrent pneumonia, Splenomegaly, Skin ulcer,...	OMIM:170100
Dermoids Of Cornea	Corneal opacity	OMIM:304730
Chand Syndrome	Curly hair, Commissural lip pit, Nail dysplasia, Ankyloblepharon	OMIM:214350
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Micrognathia, Downturned corners of mouth, Conductive hearing impairment, Severe sensorineural he...	OMIM:620186
Fg Syndrome 3	Cryptorchidism, Sensorineural hearing impairment, Fine hair, Frontal upsweep of hair, Sparse hair...	OMIM:300406
Absence Of Fingerprints-Congenital Milia Syndrome	Milia, Camptodactyly of finger, Thin skin	ORPHA:1658
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Cataract, Low anterior hairline, Respiratory insufficiency, Corneal opacity	OMIM:613153
Charcot-Marie-Tooth Disease, Axonal, Type 2R	Decreased number of peripheral myelinated nerve fibers, Peripheral axonal neuropathy, Broad-based...	OMIM:615490
Noonan Syndrome	Abnormal hair quantity, Low-set, posteriorly rotated ears, Hypogonadotropic hypogonadism, Short s...	ORPHA:648
Tbck-Related Intellectual Disability Syndrome	Mandibular prognathia, Epicanthus, Thick eyebrow, Tented upper lip vermilion, Decreased response ...	ORPHA:488632
Diencephalic Syndrome	Macrotia	ORPHA:1672
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism	Cataract, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, ...	OMIM:300845
Myopathic Ehlers-Danlos Syndrome	Failure to thrive, Multiple joint contractures, Foot joint contracture, Shoulder flexion contract...	ORPHA:536516
Sanjad-Sakati Syndrome	Hypoparathyroidism, Low-set, posteriorly rotated ears, Short stature, Abnormal dental enamel morp...	ORPHA:2323
Hurler Syndrome	Short stature, Camptodactyly of finger, Corneal opacity, Splenomegaly, Abnormality of skin pigmen...	ORPHA:93473
Schuurs-Hoeijmakers Syndrome	Highly arched eyebrow, Synophrys, Low anterior hairline, Long eyelashes, Low-set ears, Macrotia	OMIM:615009
Kindler Syndrome	Ridged nail, Symblepharon, Carious teeth, Corneal erosion, Spotty hypopigmentation, Gingivitis, P...	OMIM:173650
Neuroocular Syndrome	Brittle hair, Synophrys, Lens coloboma, Downturned corners of mouth, Microcornea, Widely spaced t...	OMIM:619539
Intellectual Developmental Disorder, X-Linked, Syndromic 11	Macrotia, Bilateral sensorineural hearing impairment	OMIM:300238
Cerebrooculonasal Syndrome	Low-set, posteriorly rotated ears, Sparse eyelashes, Sparse eyebrow, Abnormal tragus morphology, ...	ORPHA:66625
Borjeson-Forssman-Lehmann Syndrome	Macrotia	OMIM:301900
Menkes Disease	Alopecia, Brittle hair, Short stature, Cutis laxa, Sparse hair, Intrauterine growth retardation, ...	OMIM:309400
Intellectual Developmental Disorder, X-Linked 107	Prominent crus of helix, Macrotia, Abnormality of superior crus of antihelix	OMIM:301013
Genitopatellar Syndrome	Delayed eruption of teeth, Sparse scalp hair, Hip contracture, Short stature, Apnea, Micrognathia...	ORPHA:85201
Dentinogenesis Imperfecta 1	Dentinogenesis imperfecta, Yellow-brown discoloration of the teeth	OMIM:125490
Craniofrontonasal Syndrome	Ridged nail, Curly hair, Telecanthus, Split nail, Short stature, Congenital diaphragmatic hernia,...	OMIM:304110
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome	Posteriorly rotated ears, Abnormal hair pattern, Highly arched eyebrow, Overfolded helix, Macrotia	ORPHA:2083
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2	Mandibular prognathia, Short stature, Hyperconvex nail, Long philtrum, Sparse hair, Failure to th...	OMIM:619721
Hermansky-Pudlak Syndrome 2	Aberrant melanosome maturation, Fair hair, Albinism, Periodontitis, Neutropenia, Hepatosplenomega...	OMIM:608233
Peripheral Cone Dystrophy	Optic disc pallor, Optic atrophy, Pallor	OMIM:609021
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11	Cerebellar dysplasia, Optic nerve hypoplasia, Hypoplasia of the pons, Cerebellar hypoplasia, Cere...	OMIM:615181
Trichohepatoenteric Syndrome 2	Brittle hair, Small for gestational age, Uncombable hair, Sparse hair, Woolly hair, Failure to th...	OMIM:614602
Methylmalonic Acidemia With Homocystinuria, Type Cbld	Failure to thrive, Pallor	ORPHA:79283
Branchiooculofacial Syndrome	Micrognathia, Postauricular pit, Premature graying of hair, Conductive hearing impairment, Sparse...	OMIM:113620
Congenital Disorder Of Glycosylation, Type Iim	Mandibular prognathia, Epicanthus, Delayed CNS myelination, Exaggerated cupid's bow, Open mouth, ...	OMIM:300896
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma	Conjunctival telangiectasia, Alopecia, Hypermelanotic macule, Multinodular goiter, Dry skin, Palm...	OMIM:618373
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii	Alopecia, Severe short stature, Posteriorly rotated ears, Micrognathia, Cryptorchidism, Dyspnea, ...	ORPHA:2636
Teebi-Shaltout Syndrome	Telecanthus, Slow-growing hair, Short stature, Highly arched eyebrow, High, narrow palate, Low an...	OMIM:272950
Histidinuria Due To A Renal Tubular Defect	Hypoplastic toenails, Sensorineural hearing impairment, Macrotia	OMIM:235830
Symptomatic Form Of Fragile X Syndrome In Female Carriers	Mandibular prognathia, Shyness, Thin skin, Impaired social interactions, Macrotia	ORPHA:449291
Pontocerebellar Hypoplasia, Type 3	Macrotia, Low-set ears, Hearing impairment	OMIM:608027
Netherton Syndrome	Sparse scalp hair, Parakeratosis, Brittle hair, Brittle scalp hair, Allergic rhinitis, Sparse eye...	OMIM:256500
21Q22.11Q22.12 Microdeletion Syndrome	Dental crowding, Downturned corners of mouth, Periorbital hyperpigmentation, Short stature, Micro...	ORPHA:261323
Dyskeratosis Congenita, Autosomal Recessive 1	Sparse scalp hair, Pancytopenia, Sparse eyelashes, Aplastic anemia, Carious teeth, Thrombocytopen...	OMIM:224230
Faciocardiomelic Syndrome	Ptosis, Telecanthus, Micrognathia, Large for gestational age, Dental malocclusion, Wide mouth, Sh...	OMIM:612731
Marshall-Smith Syndrome	Irregular dentition, Brittle hair, Apnea, Bilateral cryptorchidism, Synophrys, Glossoptosis, Shor...	OMIM:602535
Ectodermal Dysplasia With Mental Retardation And Syndactyly	Sparse eyebrow, Onychogryposis of toenails, Long palpebral fissure, Open mouth, Dry skin, Aplasia...	OMIM:600906
Encephalocraniocutaneous Lipomatosis	Alopecia, Linear hyperpigmentation, Sclerocornea, Cryptorchidism, Nevus psiloliparus, Hypoplasia ...	OMIM:613001
Revesz Syndrome	Aplastic anemia, Leukocoria, Nail pits, Fine hair, Nail dystrophy, Sparse hair, Intrauterine grow...	OMIM:268130
Pierpont Syndrome	Large fleshy ears, High anterior hairline, Posteriorly rotated ears, Hearing impairment	OMIM:602342
Poretti-Boltshauser Syndrome	Dilated fourth ventricle, Cerebellar cyst, Cerebellar vermis hypoplasia, Cerebellar dysplasia	OMIM:615960
Mehmo Syndrome	Macrotia	OMIM:300148
Ane Syndrome	Alopecia, Multiple joint contractures, Lipoatrophy, Anterior pituitary hypoplasia, Decreased resp...	ORPHA:157954
Encephalocraniocutaneous Lipomatosis	Craniofacial hyperostosis, Alopecia, Abnormal nasolacrimal system morphology, Lipodystrophy, Corn...	ORPHA:2396
Microphthalmia, Syndromic 2	Anteverted ears, Flexion contracture, Microcornea, Oligodontia, Fused teeth, Laterally curved eye...	OMIM:300166
Intellectual Developmental Disorder, X-Linked, Syndromic 33	Microretrognathia, Thin upper lip vermilion, Sacral dimple, Thickened helices, Toenail dysplasia,...	OMIM:300966
Corneodermatoosseous Syndrome	Severe short stature, Abnormal fingernail morphology, Abnormal dental enamel morphology, Corneal ...	ORPHA:3194
Keratosis Follicularis Spinulosa Decalvans, X-Linked	Sparse eyelashes, Corneal dystrophy, Sparse eyebrow, Scarring alopecia of scalp, Keratitis, Facia...	OMIM:308800
Fetal Encasement Syndrome	Omphalocele, Thin skin, Congenital diaphragmatic hernia	OMIM:613630
Coffin-Siris Syndrome 7	Sparse scalp hair, Posteriorly rotated ears, Low-set ears, Hypoplastic fifth toenail, Recurrent o...	OMIM:618027
Oculocutaneous Albinism Type 3	White eyelashes, White eyebrow, Freckling, Blue nevus, Absent skin pigmentation, Blue irides, Red...	ORPHA:79433
Dubowitz Syndrome	Aplastic anemia, Micrognathia, Protruding ear, Hypoplasia of the iris, High palate, Megalocornea,...	OMIM:223370
Dyskeratosis Congenita, Digenic	Alopecia, Sparse eyelashes, Short stature, Abnormality of the dentition, Bilateral ptosis, Abnorm...	OMIM:620040
Chondrodysplasia Punctata, Autosomal Dominant	Hip contracture, Cataract, Hyperkeratosis with erythema, Hypoplasia of the nasal bone, Moderate p...	OMIM:118650
H Syndrome	Microcytic anemia, Corneal arcus, Hernia, Alopecia, Psoriasiform dermatitis, Short stature, Cleft...	ORPHA:168569
Neurocardiofaciodigital Syndrome	Optic disc pallor, Failure to thrive, Cataract, Small for gestational age, Short stature, Scleroc...	OMIM:619869
Pseudohypoparathyroidism Type 1B	Delayed eruption of teeth, Cataract, Short stature, Decreased response to growth hormone stimulat...	ORPHA:94089
Flat Face-Microstomia-Ear Anomaly Syndrome	Low-set, posteriorly rotated ears, Highly arched eyebrow, Sparse eyebrow, Aplasia/Hypoplasia of t...	ORPHA:1968
Blepharophimosis, Ptosis, And Epicanthus Inversus	Telecanthus, Premature ovarian insufficiency, Highly arched eyebrow, Female infertility, Sparse p...	OMIM:110100
Histidinuria-Renal Tubular Defect Syndrome	Hypoplastic toenails, Sensorineural hearing impairment, Macrotia	ORPHA:2158
Fryns Microphthalmia Syndrome	Macrotia, Abnormality of the ear	OMIM:600776
Dyskeratosis Congenita, X-Linked	Ridged nail, Reticulated skin pigmentation, Pterygium of nails, Premature graying of hair, Leukop...	OMIM:305000
Temple-Baraitser Syndrome	Hypoplastic thumbnail, Absent nail of hallux, Low anterior hairline, Aplastic/hypoplastic toenail...	ORPHA:420561
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1	Pulp calcification, Taurodontia, Enamel hypoplasia, Conjunctival whitish salt-like deposits	OMIM:211900
Doors Syndrome	Respiratory distress, Adrenal hyperplasia, Short lingual frenulum, Low anterior hairline, Downtur...	ORPHA:79500
Kbg Syndrome	Abnormal hair pattern, Synophrys, Bilateral conductive hearing impairment, Macrotia, Thick eyebrow	ORPHA:2332
Achalasia-Microcephaly Syndrome	Macrotia	ORPHA:929
Autosomal Recessive Spastic Paraplegia Type 71	Abnormal myelination	ORPHA:401840
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome	Mandibular prognathia, Abnormal dental enamel morphology, Obesity, Abnormality of skin pigmentati...	ORPHA:2180
Myhre Syndrome	Mandibular prognathia, Hypoplasia of the maxilla, Short philtrum, Sparse hair, Short stature, Cry...	OMIM:139210
Vici Syndrome	Micrognathia, Albinism, Leukopenia, T lymphocytopenia, High palate, Neutropenia, Hypopigmentation...	OMIM:242840
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Omphalocele, Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic ane...	OMIM:243150
X-Linked Sideroblastic Anemia	Hyperpigmentation of the skin, Splenomegaly, Dyspnea, Pallor, Anemia	ORPHA:75563
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15	Mandibular prognathia, Hypopigmentation of hair, Protruding tongue, Wide mouth, Widely spaced tee...	ORPHA:98795
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome	Broad eyebrow, Corneal opacity, Optic nerve hypoplasia, Corneal dystrophy, Micrognathia, Sparse e...	ORPHA:495875
Sheehan Syndrome	Dyspareunia, Decreased female libido, Sparse axillary hair, Reduced circulating prolactin concent...	ORPHA:91355
Turnpenny-Fry Syndrome	Mandibular prognathia, Numerous nevi, Dental crowding, Downturned corners of mouth, High palate, ...	OMIM:618371
Mucopolysaccharidosis Type 3	Synophrys, Flexion contracture, Coarse hair, Aspiration pneumonia, Thickened helices, Conductive ...	ORPHA:581
Developmental Delay With Variable Neurologic And Brain Abnormalities	Macrotia, Sparse lateral eyebrow	OMIM:619694
Costello Syndrome	Redundant neck skin, Micrognathia, High palate, Sparse hair, Deep-set nails, Short stature, Thin ...	OMIM:218040
Johanson-Blizzard Syndrome	Delayed eruption of teeth, Absent lacrimal punctum, Alopecia, Short stature, Abnormal hair patter...	ORPHA:2315
Short Stature, Microcephaly, And Endocrine Dysfunction	Inguinal hernia, Cataract, Short stature, Cryptorchidism, Sensorineural hearing impairment, Trunc...	OMIM:616541
Orofaciodigital Syndrome Type 3	Irregular dentition, Hamartoma of tongue, Abnormality of hair texture, Abnormality of the dentiti...	ORPHA:2752
Fontaine Progeroid Syndrome	Mandibular prognathia, Redundant skin, Micrognathia, High, narrow palate, Synophrys, Low anterior...	OMIM:612289
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia	Ridged nail, Absent eyebrow, Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Unilateral deaf...	ORPHA:1010
Ectodermal Dysplasia And Immunodeficiency 1	Sparse hair, Conical incisor, Aplasia of the eccrine sweat glands	OMIM:300291
Normosmic Congenital Hypogonadotropic Hypogonadism	Eunuchoid habitus, Hypogonadotropic hypogonadism, Female hypogonadism, Abnormality of the dentiti...	ORPHA:432
Monosomy 22	Low-set, posteriorly rotated ears, Epicanthus, Aplasia of the thymus, Synophrys, Schwannoma, Hypo...	ORPHA:96123
Intellectual Developmental Disorder, Autosomal Dominant 54	Dental crowding, Small for gestational age, Delayed eruption of primary teeth, Thin nail, Short s...	OMIM:617799
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Respiratory distress, Severe demyelination of the white matter, Pulmonary embolism, Megaloblastic...	ORPHA:79282
Neurofibromatosis Type 1	Abnormal eyelid morphology, Subcutaneous nodule, Multiple lipomas, Pheochromocytoma, Heterochromi...	ORPHA:636
Intellectual Developmental Disorder, Autosomal Dominant 68	Epicanthus, Posteriorly rotated ears, Wide mouth, Astigmatism, High palate, Joint contracture of ...	OMIM:619934
Holoprosencephaly 5	Synophrys, Macrotia	OMIM:609637
Isolated Follicle Stimulating Hormone Deficiency	Hyperplasia of the Leydig cells, Decreased female libido, Hypogonadotropic hypogonadism, Female h...	ORPHA:52901
Renpenning Syndrome 1	Mandibular prognathia, Brittle hair, Micrognathia, Protruding ear, High palate, Short philtrum, S...	OMIM:309500
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Decreased response to growth hormone stimulation test, Micrognathia, Hypoplastic toenails, Synoph...	ORPHA:444077
Elejalde Neuroectodermal Melanolysosomal Syndrome	Accumulation of melanosomes in melanocytes, Silver-gray hair, Hypopigmentation of the skin, Melan...	OMIM:256710
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Delayed eruption of teeth, Growth delay, Secondary hyperparathyroidism, Enamel hypoplasia, Failur...	OMIM:264700
Peroxisome Biogenesis Disorder 2A (Zellweger)	Epicanthus, Failure to thrive, Palpebral edema, Apnea, Cataract, Micrognathia, Brushfield spots, ...	OMIM:214110
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures	Redundant neck skin, Dental crowding, High palate, Sparse hair, Frontal hirsutism, Delayed CNS my...	OMIM:617157
Duane Retraction Syndrome	Central heterochromia, Micrognathia, Abnormal pupil morphology, Microcornea, Aniridia, Iris colob...	ORPHA:233
Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome	Attached earlobe, Macrotia, Low-set ears	ORPHA:436245
Tufted Angioma	Thrombocytopenia, Localized skin lesion, Hypertrichosis, Anemia, Hemangioma of the lip, Petechiae...	ORPHA:1063
Man1B1-Cdg	Long eyebrows, Sparse eyebrow, Abnormal position of hair whorl, Long eyelashes, Low-set ears, Mac...	ORPHA:397941
Cartilage-Hair Hypoplasia	Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Macrocytic anemia, Spars...	OMIM:250250
Immunodeficiency 10	Autoimmune hemolytic anemia, Hypoplasia of the iris, Nail dysplasia, Thrombocytopenia, Amelogenes...	OMIM:612783
Trichothiodystrophy 7, Nonphotosensitive	Tiger tail banding, Brittle hair, Follicular hyperkeratosis	OMIM:618546
Orofaciodigital Syndrome Type 5	Median cleft lip, Abnormality of the philtrum, Cleft soft palate, Accessory oral frenulum, High, ...	ORPHA:2919
Optic Atrophy 1	Optic atrophy, Pallor	OMIM:165500
Intellectual Developmental Disorder, X-Linked, Syndromic 32	Macrotia	OMIM:300886
Mitochondrial Complex I Deficiency, Nuclear Type 33	Small for gestational age, Apnea, Optic atrophy, Bronchiectasis, Respiratory insufficiency, Aspir...	OMIM:618253
Leukocyte Adhesion Deficiency Type Ii	Mandibular prognathia, Severe periodontitis, Microcytic anemia, Deep philtrum, Low anterior hairl...	ORPHA:99843
Shukla-Vernon Syndrome	Sparse hair, Downslanted palpebral fissures	OMIM:301029
Hatipoglu Immunodeficiency Syndrome	Inguinal hernia, Failure to thrive, Pancytopenia, Proportionate short stature, Hyperpigmented/hyp...	OMIM:620331
Proteus Syndrome	Central heterochromia, Pulmonary embolism, Subcutaneous nodule, Abnormality of skin pigmentation,...	ORPHA:744
Menke-Hennekam Syndrome 1	Short ear, Micrognathia, Deep philtrum, Flexion contracture, Protruding ear, High palate, Short p...	OMIM:618332
Stickler Syndrome Type 2	Sensorineural hearing impairment, Cataract, Corneal opacity, Cleft palate	ORPHA:90654
Martsolf Syndrome 2	Macrotia	OMIM:619420
Congenital Disorder Of Glycosylation, Type Iie	Micrognathia, Low anterior hairline, Short stature, Neonatal asphyxia, Respiratory insufficiency,...	OMIM:608779
Acute Peripheral Arterial Occlusion	Leukocytosis, Pallor	ORPHA:90064
Mucolipidosis Ii Alpha/Beta	Brittle hair, Micrognathia, Sparse hair, Megalocornea, Progressive alveolar ridge hypertropy, Hyp...	OMIM:252500
Angelman Syndrome	Mandibular prognathia, Optic disc pallor, Keratoconus, Iris hypopigmentation, Cerebral dysmyelina...	ORPHA:72
Van Der Woude Syndrome 2	Lip pit, Cleft upper lip, Dental malocclusion, Cleft palate, Hypodontia, Anodontia	OMIM:606713
Classic Phenylketonuria	Hypopigmentation of hair, Cataract, Lack of skin elasticity, Growth delay, Hypopigmentation of th...	ORPHA:79254
Coffin-Siris Syndrome 1	Dry hair, Congenital diaphragmatic hernia, Conical tooth, Short philtrum, High palate, Microdonti...	OMIM:135900
Glaucoma 3, Primary Congenital, D	Corneal opacity, Primary congenital glaucoma, Ectopia lentis	OMIM:613086
Neurodevelopmental Disorder With Microcephaly, Hypotonia, And Variable Brain Anomalies	Macrotia, Protruding ear	OMIM:617481
Orofaciodigital Syndrome Xix	Epicanthus, Underfolded helix, Cleft soft palate, Accessory oral frenulum, Carious teeth, Cupped ...	OMIM:620107
Phosphoribosylpyrophosphate Synthetase Superactivity	Epicanthus, Peripheral axonal neuropathy, Small for gestational age, Short stature, Hearing impai...	OMIM:300661
Usher Syndrome Type 2	Abnormality of dental color, Cataract, Abnormal dental enamel morphology, Carious teeth, Sensorin...	ORPHA:231178
Impacted Teeth, Multiple	Supernumerary tooth, Multiple impacted teeth	OMIM:308280
Ehlers-Danlos Syndrome With Platelet Dysfunction From Fibronectin Abnormality	Atypical scarring of skin, Petechiae, Thin skin, Striae distensae	OMIM:225310
Microcephaly, Developmental Delay, And Brittle Hair Syndrome	Delayed CNS myelination, Brittle hair, Small for gestational age, Failure to thrive in infancy, S...	OMIM:618891
Craniometadiaphyseal Dysplasia, Wormian Bone Type	Curly hair, Obtuse angle of mandible, Micrognathia, High palate, Malar flattening, Downslanted pa...	ORPHA:85184
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome	Prominent antihelix, Macrotia, Long eyebrows	OMIM:614407
Short Stature With Microcephaly And Distinctive Facies	Microretrognathia, Sparse scalp hair, Telecanthus, Severe short stature, Small for gestational ag...	OMIM:615789
Molybdenum Cofactor Deficiency, Complementation Group B	Lens luxation, Ectopia lentis, Growth delay, Axonal loss, Thick vermilion border, Long philtrum, ...	OMIM:252160
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies	Abnormal pinna morphology, Highly arched eyebrow, Protruding ear, Long eyelashes, Low-set ears, M...	OMIM:617452
Wrinkly Skin Syndrome	Excessive skin wrinkling on dorsum of hands and fingers, High palate, Sparse hair, Emphysema, Sho...	ORPHA:2834
Carpenter Syndrome 1	Micrognathia, Hypoplasia of the maxilla, Microcornea, High palate, Conductive hearing impairment,...	OMIM:201000
Branchioskeletogenital Syndrome	Mandibular prognathia, Attached earlobe, Hypoplasia of the maxilla, Synophrys, Downturned corners...	ORPHA:1299
Cataract-Microcornea Syndrome	Cataract, Corneal opacity, Corneal dystrophy, Microcornea, Iris coloboma	ORPHA:1377
Developmental And Epileptic Encephalopathy 25 With Amelogenesis Imperfecta	Delayed eruption of teeth, Delayed myelination, Hypodontia, Amelogenesis imperfecta	OMIM:615905
Beaulieu-Boycott-Innes Syndrome	Premature ovarian insufficiency, Endometriosis, Micrognathia, Carious teeth, Velopharyngeal insuf...	OMIM:613680
Waardenburg Syndrome Type 3	Telecanthus, Tented upper lip vermilion, Camptodactyly of finger, Tracheomalacia, White hair, Ble...	ORPHA:896
Distal Deletion 6P	Epicanthus, Posterior embryotoxon, Corneal opacity, Micrognathia, Abnormality of the dentition, O...	ORPHA:96125
Lacrimoauriculodentodigital Syndrome 1	Absence of Stensen duct, Conical incisor, Conjunctivitis, Microdontia, Corneal perforation, Hypop...	OMIM:149730
Rauch-Steindl Syndrome	Attached earlobe, Telecanthus, Epicanthus, Sacral dimple, Short stature, Highly arched eyebrow, M...	OMIM:619695
Autosomal Recessive Malignant Osteopetrosis	Delayed eruption of teeth, Apnea, Premature loss of primary teeth, Abnormality of hair texture, S...	ORPHA:667
Sialidosis Type 2	Inguinal hernia, Short stature, Corneal opacity, Dyspnea, Splenomegaly, Flexion contracture, Umbi...	ORPHA:87876
Hypermobile Ehlers-Danlos Syndrome	Keratoconus, Epicanthus, Inguinal hernia, Apnea, Abnormality of the dentition, Abnormality of the...	ORPHA:285
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome	Delayed eruption of teeth, Short stature, Sensorineural hearing impairment, Short philtrum, Denti...	ORPHA:71267
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome	Mandibular prognathia, Absent eyebrow, Alopecia, Sparse scalp hair, Sparse eyelashes, Epicanthus,...	OMIM:137940
Neuropathy, Hereditary Sensory, Type Ie	Decreased number of peripheral myelinated nerve fibers, Ataxia, Cerebral atrophy	OMIM:614116
Mitochondrial Complex Iv Deficiency, Nuclear Type 5	Inguinal hernia, Small for gestational age, Highly arched eyebrow, Micrognathia, Tachypnea, Low a...	OMIM:220111
Ermine Phenotype	Hypopigmentation of hair, Short stature, Sensorineural hearing impairment, Ocular albinism, Hypop...	ORPHA:999
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1	Macrotia, Low-set ears	OMIM:615419
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis	Mandibular prognathia, Posteriorly rotated ears, Small for gestational age, Rhizomelia, Abnormali...	OMIM:614813
Goldberg-Shprintzen Megacolon Syndrome	Sparse eyebrow, Sparse scalp hair, Macrotia	ORPHA:66629
Restrictive Dermopathy	Multiple joint contractures, Micrognathia, Scaling skin, Sparse hair, Intrauterine growth retarda...	ORPHA:1662
Proboscis Lateralis	Abnormal morphology of bony orbit of skull, Orofacial cleft, Abnormality of the maxillary sinus, ...	ORPHA:141099
Wolf-Hirschhorn Syndrome	Congenital diaphragmatic hernia, Micrognathia, Sclerocornea, Downturned corners of mouth, Short p...	ORPHA:280
Spastic Paraplegia-Neuropathy-Poikiloderma Syndrome	Loss of eyelashes, Basal lamina onion bulb formation, Demyelinating peripheral neuropathy	ORPHA:2821
Kosaki Overgrowth Syndrome	Thin upper lip vermilion, Xanthelasma, Thin skin, Downslanted palpebral fissures, Ptosis	OMIM:616592
Autosomal Recessive Spastic Paraplegia Type 77	Sudden episodic apnea, Bilateral cryptorchidism, Macrodontia of permanent maxillary central incis...	ORPHA:466722
Oculocutaneous Albinism Type 1	White eyelashes, White eyebrow, Blue irides, Iris transillumination defect, Generalized hypopigme...	ORPHA:352731
Peeling Skin Syndrome 1	Brittle hair, Short stature, Eosinophilia, Asthma, Onycholysis, Nail dystrophy, Scaling skin	OMIM:270300
Macular Dystrophy, Corneal	Punctate opacification of the cornea, Corneal dystrophy, Recurrent corneal erosions	OMIM:217800
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome	Highly arched eyebrow, Synophrys, Low anterior hairline, Protruding ear, Long eyelashes, Low-set ...	ORPHA:329224
Syngap1-Related Developmental And Epileptic Encephalopathy	Anteverted ears, Macrotia	ORPHA:544254
Ifap Syndrome 1, With Or Without Bresheck Syndrome	Atrichia, Periungual erythema, Scaling skin, Neonatal death, Dystrophic fingernails, Absent eyebr...	OMIM:308205
X-Linked Intellectual Disability, Sutherland-Haan Type	Macrotia	ORPHA:93950
Thiel-Behnke Corneal Dystrophy	Subepithelial corneal opacities, Astigmatism, Central corneal dystrophy, Recurrent corneal erosio...	ORPHA:98960
Mucopolysaccharidosis, Type Vi	Delayed eruption of teeth, Inguinal hernia, Short stature, Pneumonia, Corneal opacity, Carious te...	OMIM:253200
Christianson Syndrome	Macrotia, Thick eyebrow	ORPHA:85278
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome	Sparse scalp hair, Alopecia, Absent eyebrow, Palpebral edema, Absent eyelashes, Hydrocele testis,...	ORPHA:69735
Ehlers-Danlos Syndrome, Cardiac Valvular Type	Atrophic scars, Inguinal hernia, Thin skin	OMIM:225320
Congenital Rubella Syndrome	Abnormality of retinal pigmentation, Cataract, Short stature, Corneal opacity, Thrombocytopenia, ...	ORPHA:290
Mosaic Trisomy 8	Abnormal pinna morphology, Camptodactyly of finger, Short stature, Micrognathia, Corneal opacity,...	ORPHA:96061
Developmental And Epileptic Encephalopathy 64	Highly arched eyebrow, Sparse eyebrow, Low anterior hairline, Long eyelashes, Macrotia, Thick eye...	OMIM:618004
Ectodermal Dysplasia 11A, Hypohidrotic/Hair/Tooth Type, Autosomal Dominant	Brittle hair, Absent nipple, Oligodontia, Everted lower lip vermilion, Hypodontia, Sparse hair, D...	OMIM:614940
Anemia, Hypochromic Microcytic, With Iron Overload 2	Splenomegaly, Growth delay, Azoospermia, Decreased mean corpuscular volume, Hypogonadism, Pallor,...	OMIM:615234
Intellectual Developmental Disorder, Autosomal Dominant 1	Mandibular prognathia, Micrognathia, Protruding ear, Downturned corners of mouth, Widely spaced t...	OMIM:156200
Gorlin Syndrome	Mandibular prognathia, Epicanthus, Telecanthus, Hypogonadotropic hypogonadism, Cataract, Carious ...	ORPHA:377
Joubert Syndrome 23	Cerebellar dysplasia	OMIM:616490
Primary Lateral Sclerosis, Juvenile	Difficulty in tongue movements, Pallor	OMIM:606353
Abruzzo-Erickson Syndrome	Conductive hearing impairment, Sensorineural hearing impairment, Macrotia	ORPHA:921
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Decreased response to growth hormone stimulation test, Protruding ear, Widely spaced teeth, Iris ...	ORPHA:268261
Diamond-Blackfan Anemia 1	Micrognathia, Reticulocytopenia, High palate, Pallor, Neutropenia, Short stature, Cleft upper lip...	OMIM:105650
Hermansky-Pudlak Syndrome 1	Hypopigmentation of hair, Freckles in sun-exposed areas, Epistaxis, Albinism, Ocular albinism, Me...	OMIM:203300
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities	Medial flaring of the eyebrow, Smooth philtrum, Posteriorly rotated ears, Short stature, Postnata...	OMIM:620113
Autosomal Recessive Spastic Paraplegia Type 69	Abnormal myelination, Cataract, Hearing impairment	ORPHA:401830
Mucolipidosis Iv	Opacification of the corneal stroma, Optic atrophy, Cerebral dysmyelination, Corneal opacity	OMIM:252650
Multicentric Carpotarsal Osteolysis Syndrome	Hypoplasia of the maxilla, Corneal opacity, Congenital diaphragmatic hernia, Micrognathia	OMIM:166300
Chediak-Higashi Syndrome	Impaired neutrophil bactericidal activity, Spontaneous, recurrent epistaxis, Hypopigmentation of ...	OMIM:214500
Intellectual Disability-Hypotonia-Brachycephaly-Pyloric Stenosis-Cryptorchidism Syndrome	Macrotia, Low-set ears	ORPHA:314575
Griscelli Syndrome Type 2	Hypopigmentation of hair, Pancytopenia, Partial albinism, Splenomegaly, Premature graying of hair...	ORPHA:79477
Carney Complex, Type 1	Elevated circulating growth hormone concentration, Palatine myxoma, Pituitary adenoma, Schwannoma...	OMIM:160980
Apert Syndrome	Mandibular prognathia, Delayed eruption of teeth, Hypoplasia of the maxilla, Sensorineural hearin...	ORPHA:87
White Forelock With Malformations	Low-set, posteriorly rotated ears, Epicanthus, Deep philtrum, White forelock, Abnormal palate mor...	ORPHA:2475
Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis	Abnormal myelination, Short stature, Downturned corners of mouth, Wide mouth, Long philtrum, Grow...	OMIM:617333
Chromosome 3Q13.31 Deletion Syndrome	Macrotia, Low-set ears	OMIM:615433
Osteogenesis Imperfecta, Type Xii	Delayed eruption of teeth, Short stature, Micrognathia, Progressive hearing impairment, High pala...	OMIM:613849
Mucopolysaccharidosis, Type Iiid	Inguinal hernia, Short stature, Splenomegaly, Synophrys, Thick lower lip vermilion, Hirsutism, Ac...	OMIM:252940
Metachromatic Leukodystrophy	Gait disturbance, Optic atrophy, Peripheral demyelination, Ataxia	OMIM:250100
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15	Central apnea, Hypopigmentation of hair, Small for gestational age, Decreased response to growth ...	ORPHA:98754
Mucopolysaccharidosis, Type Iiia	Inguinal hernia, Splenomegaly, Synophrys, Coarse hair, Umbilical hernia, Hirsutism, Hearing impai...	OMIM:252900
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities	Large fleshy ears, Overfolded helix, Low-set ears	OMIM:619092
Fanconi Anemia, Complementation Group I	Short stature, Optic nerve hypoplasia, Decreased response to growth hormone stimulation test, Neu...	OMIM:609053
Epidermolysis Bullosa Simplex With Circinate Migratory Erythema	Parakeratosis, Oral mucosal blisters, Palmoplantar hyperkeratosis, Generalized reticulate brown p...	ORPHA:158681
Mosaic Trisomy 9	Corneal opacity, Camptodactyly of finger, Micrognathia, Asplenia, Cryptorchidism, Cleft palate, U...	ORPHA:99776
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures	Delayed CNS myelination, Thick vermilion border, Macrodontia of permanent maxillary central incis...	OMIM:620114
Charcot-Marie-Tooth Disease Type 4A	Decreased number of large peripheral myelinated nerve fibers, Inability to walk, Unsteady gait, C...	ORPHA:99948
Hypocalcemic Vitamin D-Dependent Rickets	Delayed eruption of teeth, Short stature, Postnatal growth retardation, Secondary hyperparathyroi...	ORPHA:289157
Porokeratosis Of Mibelli	Hyperkeratosis, Aplasia/Hypoplasia of the skin	ORPHA:735
Arthrogryposis-Oculomotor Limitation-Electroretinal Anomalies Syndrome	Macrotia	ORPHA:1154
22Q11.2 Deletion Syndrome	Abnormal eyelid morphology, Micrognathia, Hypoplasia of the thymus, Short philtrum, Conductive he...	ORPHA:567
Trigeminal Neuralgia	Cranial nerve compression, CNS demyelination, Difficulty in tongue movements, Mandibular pain, Pe...	ORPHA:221091
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2	Short stature, Cleft palate, Respiratory insufficiency, Cutis laxa, Atrophic scars, Joint contrac...	OMIM:615349
Skin Creases, Congenital Symmetric Circumferential, 2	Uplifted earlobe, Micrognathia, Synophrys, Low anterior hairline, Microcornea, Microdontia, Short...	OMIM:616734
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum	Respiratory distress, Conjunctivitis, Cough, Neutropenia, Chemosis, Conjunctival hyperemia, Hypop...	ORPHA:95455
Morquio Syndrome C	Severe short stature, Corneal opacity	OMIM:252300
Osteogenesis Imperfecta, Type Ii	Disproportionate short-limb short stature, Small for gestational age, Thin skin, Respiratory insu...	OMIM:166210
Donohue Syndrome	Hypermelanotic macule, Postnatal growth retardation, Adipose tissue loss, Thick lower lip vermili...	OMIM:246200
Xp22.3 Microdeletion Syndrome	Sacral dimple, Aplasia/Hypoplasia of the skin, Hypogonadotropic hypogonadism, Short stature, Decr...	ORPHA:1643
Charcot-Marie-Tooth Disease, Axonal, Type 2K	Decreased number of peripheral myelinated nerve fibers, Axonal regeneration	OMIM:607831
Congenital Short Bowel Syndrome	Sparse hair, Lipoatrophy, Short stature	ORPHA:2301
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1	Central apnea, Thin upper lip vermilion, Hypopigmentation of hair, Small for gestational age, Dec...	ORPHA:177901
Oculoectodermal Syndrome	Giant cell granuloma of mandible, Epicanthus, Epidermal nevus, Supernumerary nipple, Preauricular...	OMIM:600268
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome	Eunuchoid habitus, Short stature, Obesity, Decreased fertility, Hypogonadism, Sparse body hair, D...	ORPHA:2234
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z	Cerebellar atrophy, Abnormal peripheral myelination, Inability to walk, Atrophy of the spinal cor...	ORPHA:466768
Odontomicronychial Dysplasia	Premature eruption of permanent teeth, Short nail, Slow-growing nails, Thin nail	OMIM:601319
Mucolipidosis Type Ii	Hip contracture, Epicanthus, Dry hair, Inguinal hernia, Short stature, Respiratory failure requir...	ORPHA:576
Mohr Syndrome	Telecanthus, Median cleft lip, Short stature, Accessory oral frenulum, Micrognathia, Hypoplasia o...	OMIM:252100
Linear Verrucous Nevus Syndrome	Sparse scalp hair, Cataract, Verrucous papule, Hyperkeratosis, Abnormal cornea morphology, Iris c...	ORPHA:2611
Adrenomyeloneuropathy	Peripheral axonal degeneration, Frontal balding, Cerebral dysmyelination, Intra-oral hyperpigment...	ORPHA:139399
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion	Central apnea, Hypopigmentation of hair, Small for gestational age, Decreased response to growth ...	ORPHA:98793
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Dental crowding, Conductive hearing impairment, Short stature, Cryptorchidism, Supernumerary toot...	ORPHA:353281
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance	Cerebellar atrophy, Ataxia, Dysdiadochokinesis, Hyperaldosteronism, Peripheral hypomyelination, C...	OMIM:612780
Ogden Syndrome	Redundant neck skin, Apnea, Redundant skin, Abnormal eyelid morphology, Micrognathia, Deep philtr...	OMIM:300855
Galloway-Mowat Syndrome 9	Coarse hair, Macrotia, Low-set ears	OMIM:619603
Microphthalmia With Limb Anomalies	Sacral dimple, Failure to thrive, Unilateral cryptorchidism, Posteriorly rotated ears, Cleft uppe...	OMIM:206920
Fucosidosis	Lipoatrophy, Corneal opacity, Abnormality of the dentition, Failure to thrive, Generalized hyperk...	ORPHA:349
Adams-Oliver Syndrome	Alopecia, Aplasia/Hypoplasia of the skin, Cataract, Aplastic/hypoplastic toenail, Pulmonary arter...	ORPHA:974
Lissencephaly 6 With Microcephaly	Synophrys, Macrotia	OMIM:616212
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency	Low anterior hairline, Frontal upsweep of hair, Horizontal eyebrow, Low-set ears, Macrotia, Heari...	ORPHA:369891
Coffin-Lowry Syndrome	Mandibular prognathia, Protruding ear, Hyperconvex fingernails, Coarse hair, High palate, Widely ...	OMIM:303600
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome	Highly arched eyebrow, Macrotia, Low-set ears	OMIM:618142
Lenz-Majewski Hyperostotic Dwarfism	Mandibular prognathia, Redundant skin, High, narrow palate, Hyperconvex fingernails, Bifid uvula,...	ORPHA:2658
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2	Central apnea, Hypopigmentation of hair, Small for gestational age, Decreased response to growth ...	ORPHA:177904
Beta-Thalassemia	Hypogonadotropic hypogonadism, Abnormal hemoglobin, Microcytic anemia, Thrombocytopenia, Splenome...	ORPHA:848
Ectodermal Dysplasia-Skin Fragility Syndrome	Chapped lip, Abnormal dental morphology, Scarring, Short stature, Abnormality of the dentition, C...	ORPHA:158668
Intellectual Developmental Disorder, Autosomal Dominant 7	Thickened helices, Macrotia, Abnormal pinna morphology	OMIM:614104
Griscelli Syndrome	Abnormal eyebrow morphology, Short stature, Abnormality of neutrophils, Abnormal eyelash morpholo...	ORPHA:381
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome	Sparse facial hair, Aplasia of the ovary, Alopecia, Streak ovary, Sparse eyebrow, Cryptorchidism,...	ORPHA:2232
Mucopolysaccharidosis, Type Iiib	Splenomegaly, Synophrys, Coarse hair, Hirsutism, Hearing impairment	OMIM:252920
Cone-Rod Dystrophy 11	Pallor	OMIM:610381
Hennekam-Beemer Syndrome	Micrognathia, Subcutaneous nodule, Abnormality of skin pigmentation, High palate, Skin vesicle, C...	ORPHA:2135
Keutel Syndrome	Alopecia, Short stature, Optic atrophy, Dermal atrophy, Recurrent sinusitis, Pulmonary arterial h...	ORPHA:85202
Chromosome 9P Deletion Syndrome	Narrow nail, Micrognathia, High, narrow palate, Deep philtrum, High palate, Highly arched eyebrow...	OMIM:158170
Ophthalmomandibulomelic Dysplasia	Obtuse angle of mandible, Corneal opacity, Camptodactyly of finger, Temporomandibular joint ankyl...	ORPHA:2741
Localized Scleroderma	Fasciitis, Abnormal skin adnexa morphology, Cutaneous sclerotic plaque, Abnormality of the dentit...	ORPHA:90289
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome	Waddling gait, Ataxia, Delayed peripheral myelination, Unsteady gait, Cerebral atrophy, Difficult...	ORPHA:464282
Usher Syndrome	Abnormality of retinal pigmentation, Abnormality of dental color, Cataract, Abnormal dental ename...	ORPHA:886
Molybdenum Cofactor Deficiency, Complementation Group A	Lens luxation, Ectopia lentis, Growth delay, Axonal loss, Thick vermilion border, Long philtrum, ...	OMIM:252150
Thiamine-Responsive Megaloblastic Anemia Syndrome	Short stature, Megaloblastic anemia, Sensorineural hearing impairment, Optic atrophy, Pallor, Thr...	ORPHA:49827
Mitochondrial Neurogastrointestinal Encephalomyopathy	Peripheral axonal neuropathy, Hypogonadotropic hypogonadism, Hypergonadotropic hypogonadism, Cach...	ORPHA:298
Cranioectodermal Dysplasia 2	Unilateral ptosis, Micrognathia, Fused teeth, High palate, Widely spaced teeth, Sparse hair, Micr...	OMIM:613610
Odontochondrodysplasia	Delayed eruption of teeth, Respiratory distress, Short stature, Retrognathia, Dentinogenesis impe...	ORPHA:166272
Stevens-Johnson Syndrome	Macule, Dyspareunia, Entropion, Abnormality of neutrophils, Acantholysis, Dyspnea, Corneal erosio...	ORPHA:36426
Hypotonia-Cystinuria Syndrome	Macrotia, Posteriorly rotated ears, Long eyelashes	OMIM:606407
Limb-Mammary Syndrome	Cleft hard palate, Protruding ear, Aplasia of the ovary, Bifid uvula, Alopecia, Psoriasiform derm...	ORPHA:69085
Sialidosis Type 1	Cataract, Short stature, Corneal opacity, Splenomegaly, Sensorineural hearing impairment, Thick l...	ORPHA:812
Periventricular Nodular Heterotopia	Thin skin, Hernia	ORPHA:98892
Androgen Insensitivity Syndrome	Sparse pubic hair, Sparse axillary hair, Absent facial hair, Primary amenorrhea	OMIM:300068
Tsh-Secreting Pituitary Adenoma	Pallor, Male hypogonadism, Hypogonadotropic hypogonadism, Decreased fertility in males, Delayed p...	ORPHA:91347
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type	Hypopigmentation of hair, Failure to thrive, Respiratory failure	ORPHA:70472
Van Den Ende-Gupta Syndrome	Dental crowding, Sclerocornea, Micrognathia, Hypoplasia of the maxilla, High, narrow palate, Knee...	OMIM:600920
Say Syndrome	Macrotia	OMIM:181180
Gillessen-Kaesbach-Nishimura Syndrome	Large fleshy ears, Frontotemporal hypertrichosis, Posteriorly rotated ears, Low-set ears	OMIM:263210
Myoectodermal Gonadal Dysgenesis Syndrome	Scaling skin, Accessory spleen, Short stature, Elevated circulating luteinizing hormone level, Hi...	OMIM:618419
Wrinkly Skin Syndrome	Redundant skin, Neonatal wrinkled skin of hands and feet, High palate, Sparse hair, Microdontia, ...	OMIM:278250
Lambotte Syndrome	Macrotia, Atresia of the external auditory canal	OMIM:245552
Oculocutaneous Albinism Type 4	Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism, White hair, Ocular albin...	ORPHA:79435
Corneal Dystrophy, Congenital Stromal	Band-shaped corneal dystrophy, Corneal erosion, Increased corneal thickness, Corneal dystrophy	OMIM:610048
Wiedemann-Steiner Syndrome	Decreased response to growth hormone stimulation test, Synophrys, High palate, Generalized hirsut...	ORPHA:319182
Sim1-Related Prader-Willi-Like Syndrome	Thin upper lip vermilion, Hypopigmentation of hair, Hypogonadotropic hypogonadism, Almond-shaped ...	ORPHA:398079
Acces Syndrome	Sparse scalp hair, Failure to thrive, Supernumerary nipple, Protruding ear, Low-set ears, Retrogn...	OMIM:619959
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Respiratory distress, Parakeratosis, Severe B lymphocytopenia, Micrognathia, Biliary hyperplasia,...	ORPHA:83617
Cleidocranial Dysplasia 1	Respiratory distress, Neonatal respiratory distress, Short stature, Delayed eruption of primary t...	OMIM:119600
Ermine Phenotype	White eyelashes, White eyebrow, Albinism, Sensorineural hearing impairment, White hair, Spotty hy...	OMIM:227010
Charcot-Marie-Tooth Disease Type 4B2	Tongue atrophy, Reduced vital capacity, Myelin outfoldings, Cataract, Sensorineural hearing impai...	ORPHA:99956
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant	Cryptorchidism, Flexion contracture, Corneal opacity, Developmental cataract	OMIM:618815
Intellectual Developmental Disorder, Autosomal Recessive 72	Macrotia, Posteriorly rotated ears, Low-set ears	OMIM:618665
Developmental And Epileptic Encephalopathy 110	Macrotia, Low-set ears	OMIM:620149
Hermansky-Pudlak Syndrome 11	Epistaxis, Albinism, Ocular albinism, Melanocytic nevus, Reduced platelet dense granules, Iris tr...	OMIM:619172
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3	Absence of Stensen duct, Decreased response to growth hormone stimulation test, Selective tooth a...	OMIM:604292
Dysosteosclerosis	Delayed eruption of teeth, Craniofacial hyperostosis, Aplasia/Hypoplasia of the skin, Short statu...	ORPHA:1782
3Mc Syndrome	Telecanthus, Abnormal pinna morphology, Supernumerary nipple, Highly arched eyebrow, Bilateral cr...	ORPHA:293843
Corneal Dystrophy, Reis-Bucklers Type	Palpebral edema, Corneal dystrophy, Corneal opacity, Corneal erosion, Opacification of the cornea...	OMIM:608470
Spondylocarpotarsal Synostosis Syndrome	Abnormality of retinal pigmentation, Mixed hearing impairment, Inguinal hernia, Cataract, Preauri...	OMIM:272460
Waardenburg Syndrome, Type 1	Mandibular prognathia, Smooth philtrum, Telecanthus, White eyelashes, White eyebrow, Partial albi...	OMIM:193500
Jalili Syndrome	Abnormality of retinal pigmentation, Abnormality of dental color, Abnormal dental enamel morpholo...	ORPHA:1873
Charcot-Marie-Tooth Disease Type 1B	Peripheral axonal neuropathy, Peripheral dysmyelination	ORPHA:101082
Plummer-Vinson Syndrome	Tongue atrophy, Concave nail, Intra-oral hyperpigmentation, Cheilitis, Hypochromic microcytic ane...	ORPHA:54028
Neuropathy, Hereditary Sensory And Autonomic, Type Ia	Cataract, Decreased number of large peripheral myelinated nerve fibers, Sensorineural hearing imp...	OMIM:162400
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly	Thick eyebrow, Synophrys, Low anterior hairline, Frontal upsweep of hair, Overfolded helix, Macro...	OMIM:617061
Orofaciodigital Syndrome Iii	Hyperconvex nail, Supernumerary tooth, Tongue nodules, Low-set ears, Microdontia, Bifid tongue, B...	OMIM:258850
Trichorhinophalangeal Syndrome, Type Ii	Mandibular prognathia, Mild postnatal growth retardation, Micrognathia, Bilateral cryptorchidism,...	OMIM:150230
Ameloonychohypohidrotic Syndrome	Hypocalcification of dental enamel, Onycholysis, Yellow-brown discoloration of the teeth, Marked ...	OMIM:104570
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome	Telecanthus, Short stature, Corneal opacity, Micrognathia, Developmental glaucoma, Downturned cor...	ORPHA:1064
Axenfeld-Rieger Syndrome, Type 2	Mandibular prognathia, Telecanthus, Inguinal hernia, Hypoplasia of the maxilla, Cryptorchidism, M...	OMIM:601499
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome	Highly arched eyebrow, Aplasia/Hypoplasia of the external ear, Long eyelashes, Low-set ears, Macr...	ORPHA:505237
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome	Absent eyebrow, Alopecia, Sparse scalp hair, Sparse eyelashes, Absent eyelashes, Sparse eyebrow, ...	ORPHA:544488
Epithelial Recurrent Erosion Dystrophy	Corneal erosion	OMIM:122400
Classical-Like Ehlers-Danlos Syndrome Type 1	Thin skin	ORPHA:230839
Crome Syndrome	Cerebellar dysplasia	OMIM:218900
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome	Absent eyebrow, Thin fingernail, Abnormal dental morphology, Abnormal dental enamel morphology, M...	ORPHA:85199
Imerslund-Gräsbeck Syndrome	Reticulocytosis, Macrocytic anemia, Pancytopenia, Angular cheilitis, Megaloblastic anemia, Anisop...	ORPHA:35858
Mucopolysaccharidosis Type 4	Short stature, Abnormal dental enamel morphology, Corneal opacity, Abnormality of the dentition, ...	ORPHA:582
Optic Atrophy 7 With Or Without Auditory Neuropathy	Optic disc pallor, Sensorineural hearing impairment, Optic atrophy, Pallor	OMIM:612989
Chromosome 17Q23.1-Q23.2 Deletion Syndrome	Epicanthus, Small for gestational age, Posteriorly rotated ears, Short stature, Postnatal growth ...	OMIM:613355
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12	Woolly hair, Palmoplantar keratoderma	OMIM:611528
Leber Congenital Amaurosis 14	Optic disc pallor, Pallor	OMIM:613341
Fraser Syndrome 1	Dental crowding, Malformed lacrimal duct, Conductive hearing impairment, Hypoplastic superior hel...	OMIM:219000
Oculocutaneous Albinism Type 2	Abnormality of retinal pigmentation, Hypopigmentation of hair, White eyelashes, White eyebrow, Ab...	ORPHA:79432
Mucopolysaccharidosis, Type Ivb	Mandibular prognathia, Inguinal hernia, Corneal opacity, Grayish enamel, Carious teeth, Dispropor...	OMIM:253010
Alternating Hemiplegia Of Childhood	Respiratory distress, Exaggerated cupid's bow, Apnea, Downturned corners of mouth, Pallor, Thin e...	ORPHA:2131
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections	Persistence of primary teeth, Asthma, Supernumerary tooth, Recurrent pneumonia, Bronchiectasis, H...	OMIM:619752
Familial Isolated Hypoparathyroidism	Hypoparathyroidism, Delayed eruption of teeth, Cataract, Short stature, Abnormal dental enamel mo...	ORPHA:2238
Obesity And Hypopigmentation	Red hair, Obesity	OMIM:620195
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome	Epicanthus, Premature ovarian insufficiency, Endometriosis, Abnormality of the dentition, Carious...	ORPHA:363444
Witteveen-Kolk Syndrome	Decreased response to growth hormone stimulation test, Congenital diaphragmatic hernia, Uplifted ...	OMIM:613406
Pitt-Hopkins Syndrome	Supernumerary nipple, Hiatus hernia, Postnatal growth retardation, Cryptorchidism, Hypopigmented ...	ORPHA:2896
Monosomy 18Q	Mandibular prognathia, Epicanthus, Failure to thrive, Slender build, Abnormal myelination, Short ...	ORPHA:1600
Scheie Syndrome	Mandibular prognathia, Corneal opacity	OMIM:607016
Angelman Syndrome	Mandibular prognathia, Protruding tongue, Hypoplasia of the maxilla, Blue irides, Obesity, Wide m...	OMIM:105830
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy	Protruding ear, Low-set ears, Overfolded helix, Macrotia, Broad eyebrow, Hearing impairment	ORPHA:481152
Mucolipidosis Type Iv	Abnormality of retinal pigmentation, Corneal opacity, Palmoplantar keratoderma, Everted lower lip...	ORPHA:578
Galloway-Mowat Syndrome 1	Epicanthus, Cataract, Small for gestational age, Short stature, Micrognathia, Hiatus hernia, Macr...	OMIM:251300
Syndromic Recessive X-Linked Ichthyosis	Short stature, Corneal opacity, Cryptorchidism, Acute leukemia, Hyperkeratosis, Hypogonadism, Tes...	ORPHA:281090
Trisomy 9P	Hypoplastic toenails, Protruding ear, Fingernail dysplasia, Macrotia, Hypoplastic fingernail	ORPHA:236
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability	Respiratory distress, Abnormal periodontium morphology, High palate, Low-set, posteriorly rotated...	ORPHA:480880
Cole-Carpenter Syndrome 2	Microretrognathia, Short stature, Postnatal growth retardation, High palate, Downslanted palpebra...	OMIM:616294
Roberts-Sc Phocomelia Syndrome	Micrognathia, Knee flexion contracture, Eyelid coloboma, High palate, Shallow orbits, Sparse hair...	OMIM:268300
Fanconi Anemia, Complementation Group C	Hypopigmented macule, Epicanthus, Pancytopenia, Small for gestational age, Hypergonadotropic hypo...	OMIM:227645
Ectodermal Dysplasia, Hypohidrotic, With Hypothyroidism And Ciliary Dyskinesia	Sparse scalp hair, Sparse eyebrow, Abnormality of skin pigmentation, Nail dysplasia, Ciliary dysk...	OMIM:225050
Osteogenesis Imperfecta, Type Xix	Severe short stature, Rhizomelia, Dentinogenesis imperfecta, Hearing impairment	OMIM:301014
Amelocerebrohypohidrotic Syndrome	Abnormality of dental color, Short stature, Abnormal dental enamel morphology, Yellow-brown disco...	ORPHA:1946
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Alopecia, Cataract, Cachexia, Anemia, Nail dystrophy, Nail dysplasia, Glossitis, Hyperpigmentatio...	OMIM:175500
Tangier Disease	Peripheral axonal neuropathy, Corneal opacity, Thrombocytopenia, Hepatosplenomegaly, Facial diple...	ORPHA:31150
X-Linked Intellectual Disability, Cilliers Type	Macrotia, Small nail	ORPHA:163971
Intellectual Developmental Disorder, X-Linked 30	Macrotia	OMIM:300558
Larsen Syndrome	Short stature, Short nail, Tracheomalacia, Cleft upper lip, Corneal opacity, Cryptorchidism, Clef...	OMIM:150250
Say-Barber-Miller Syndrome	Micrognathia, Knee flexion contracture, Protruding ear, Abnormal T cell morphology, High palate, ...	ORPHA:3132
Dentici-Novelli Neurodevelopmental Syndrome	Macrotia, Hearing impairment	OMIM:619877
Dentin Dysplasia With Sclerotic Bones	Dentinogenesis imperfecta limited to primary teeth, Abnormality of the dentition	OMIM:125440
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome	Absent eyebrow, Alopecia, Absent eyelashes, Low-set ears, Small nail, Macrotia	ORPHA:166035
Primary Myelofibrosis	Pancytopenia, Extramedullary hematopoiesis, Thrombocytosis, Cachexia, Thrombocytopenia, Leukocyto...	ORPHA:824
Yunis-Varon Syndrome	Redundant neck skin, Sclerocornea, Micrognathia, High, narrow palate, Broad secondary alveolar ri...	ORPHA:3472
Naxos Disease	Curly hair, Subungual hyperkeratosis, Acantholysis, Sparse eyebrow, Diffuse palmoplantar hyperker...	OMIM:601214
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome	Synophrys, Macrotia	ORPHA:391307
Mogs-Cdg	Respiratory distress, Absent brainstem auditory responses, Alopecia, Hypoventilation, Apnea, Thro...	ORPHA:79330
Pontocerebellar Hypoplasia, Type 11	Macrotia	OMIM:617695
Tuberous Sclerosis 1	Dental enamel pits, Subcutaneous nodule, Gingival fibromatosis, Adenoma sebaceum, Hypomelanotic m...	OMIM:191100
Sting-Associated Vasculopathy, Infantile-Onset	Nailfold capillary tortuosity, Lymphopenia, Tachypnea, Erythema, Leukopenia, Nail dystrophy, Peri...	OMIM:615934
Bazex Syndrome	Parakeratosis, Yellow nails, Anemia, Hyperkeratosis, Palmoplantar keratoderma, Scaling skin, Nail...	ORPHA:166113
Severe X-Linked Intellectual Disability, Gustavson Type	Apneic episodes in infancy, Macrotia, Abnormal pinna morphology, Profound hearing impairment	ORPHA:3078
X-Linked Intellectual Disability, Shashi Type	Macrotia	ORPHA:85286
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1	Decreased response to growth hormone stimulation test, Micrognathia, Hypoplasia of the maxilla, L...	OMIM:213980
3Q29 Microduplication Syndrome	Cataract, Sclerocornea, Abnormality of the dentition, Deep philtrum, Obesity, Cleft palate, High ...	ORPHA:251038
Microphthalmia, Isolated, With Coloboma 9	Sclerocornea, Microcornea, Narrow palpebral fissure, Low-set ears, Long philtrum, Ocular anterior...	OMIM:615145
Dyskeratosis Congenita, Autosomal Dominant 2	Pancytopenia, Short stature, Aplastic anemia, Abnormality of the dentition, Reticulated skin pigm...	OMIM:613989
Bloom Syndrome	Micrognathia, Adipose tissue loss, Paronychia, Hypopigmentation of the skin, Male infertility, De...	ORPHA:125
Toxic Epidermal Necrolysis	Macule, Respiratory distress, Entropion, Acantholysis, Thrombocytopenia, Corneal erosion, Erythem...	ORPHA:537
Osteogenesis Imperfecta, Type I	Otosclerosis, Dentinogenesis imperfecta, Thin skin, Hearing impairment	OMIM:166200
Hermansky-Pudlak Syndrome 10	Macrotia, Apnea, Low-set ears, Albinism	OMIM:617050
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia	Short stature, Dentinogenesis imperfecta	ORPHA:166277
Deafness, Congenital, With Inner Ear Agenesis, Microtia, And Microdontia	Skin tags, Conical tooth, Micrognathia, Anteverted ears, Aplasia of the inner ear, Widely spaced ...	OMIM:610706
Acth-Independent Macronodular Adrenal Hyperplasia	Adrenal hyperplasia, Truncal obesity, Macronodular adrenal hyperplasia, Thin skin, Striae distensae	OMIM:219080
Autoimmune Polyendocrinopathy Type 1	Hypoparathyroidism, Alopecia, Adrenal hyperplasia, Abnormal fingernail morphology, Cataract, Hypo...	ORPHA:3453
Tyrosinemia, Type Ii	Growth delay, Herpetiform corneal ulceration	OMIM:276600
Jalili Syndrome	Optic disc pallor, Bone spicule pigmentation of the retina, Carious teeth, Retinal pigment epithe...	OMIM:217080
Kleeblattschaedel	Recurrent corneal erosions	OMIM:148800
Mosaic Variegated Aneuploidy Syndrome	Low-set, posteriorly rotated ears, Epicanthus, Cataract, Short stature, Apnea, Corneal opacity, M...	ORPHA:1052
Meier-Gorlin Syndrome 3	Microretrognathia, Posteriorly rotated ears, Short stature, Sparse axillary hair, Micrognathia, S...	OMIM:613803
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency	Pancytopenia, Megaloblastic anemia, Delayed myelination, Increased mean corpuscular volume, Pallo...	OMIM:613839
Xq28 (MECP2) duplication	Macrotia	DECIPHER:45
Waardenburg Syndrome, Type 2E	White eyelashes, White eyebrow, Aplasia of the semicircular canal, Sensorineural hearing impairme...	OMIM:611584
Benign Paroxysmal Torticollis Of Infancy	Pallor	ORPHA:71518
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome	Increased mean platelet volume, Enamel hypomineralization, Iron deficiency anemia, Neutropenia, P...	ORPHA:494444
Transaldolase Deficiency	Pancytopenia, Small for gestational age, Thrombocytopenia, Synophrys, Deep philtrum, Asthma, Sple...	OMIM:606003
Charcot-Marie-Tooth Disease Type 4C	Cerebellar atrophy, Decreased number of peripheral myelinated nerve fibers, Inability to walk, Op...	ORPHA:99949
Mucopolysaccharidosis, Type Iva	Mandibular prognathia, Inguinal hernia, Grayish enamel, Carious teeth, Recurrent pneumonia, Dispr...	OMIM:253000
Zttk Syndrome	Hypoplasia of the maxilla, Flexion contracture, Protruding ear, Downturned corners of mouth, High...	OMIM:617140
Pseudohypoaldosteronism Type 2	Growth delay, Short stature, Abnormal dental enamel morphology, Abnormality of the dentition	ORPHA:757
Ring Chromosome 22 Syndrome	Pleural effusion, Macrotia, Toenail dysplasia, Thick eyebrow	ORPHA:1446
Odontochondrodysplasia 1	Delayed eruption of teeth, Respiratory distress, Short stature, Mesomelic short stature, Long phi...	OMIM:184260
Oculocerebral Hypopigmentation Syndrome, Preus Type	Cataract, Short stature, Hearing impairment, Abnormality of neutrophils, White hair, Ocular albin...	ORPHA:2720
Cartilage-Hair Hypoplasia	Low-set, posteriorly rotated ears, Abnormality of retinal pigmentation, Epicanthus, Sacral dimple...	ORPHA:175
Atrophoderma Vermiculata	Hypoplastic pilosebaceous units, Periauricular skin pits, Neurofibroma, Erythema, Atrophic scars,...	ORPHA:79100
Pigmented Nodular Adrenocortical Disease, Primary, 2	Ovarian cyst, Truncal obesity, Thin skin, Striae distensae	OMIM:610475
Bone Marrow Failure Syndrome 5	Short stature, Pure red cell aplasia, Erythroid hypoplasia, Reticular hyperpigmentation, Growth d...	OMIM:618165
Charcot-Marie-Tooth Disease-Deafness-Intellectual Disability Syndrome	Decreased number of large peripheral myelinated nerve fibers, Axonal degeneration, Gait ataxia	ORPHA:90103
Peroxisome Biogenesis Disorder 5A (Zellweger)	Micrognathia, High palate, Brushfield spots, Cryptorchidism, Hepatosplenomegaly, Low-set ears, Ab...	OMIM:614866
Magel2-Related Prader-Willi-Like Syndrome	Thin upper lip vermilion, Hypopigmentation of hair, Short stature, Almond-shaped palpebral fissur...	ORPHA:398069
Fallot Complex-Intellectual Disability-Growth Delay Syndrome	Recurrent otitis media, Frontal hirsutism, Macrotia, Protruding ear	ORPHA:3304
Congenital Disorder Of Glycosylation, Type Id	Nail dysplasia, Macrotia, Small nail	OMIM:601110
Alpha-Mannosidosis, Infantile Form	Mandibular prognathia, Optic disc pallor, Mixed hearing impairment, Cataract, Corneal opacity, Pn...	ORPHA:309282
Prader-Willi Syndrome	Hypopigmentation of hair, Short stature, Decreased response to growth hormone stimulation test, A...	ORPHA:739
Fragile X Syndrome	Macrotia	OMIM:300624
Farber Disease	Respiratory distress, Short stature, Corneal opacity, Thrombocytopenia, Flexion contracture, Resp...	ORPHA:333
Aymé-Gripp Syndrome	Congenital diaphragmatic hernia, Oligodontia, Shallow orbits, Megalocornea, Short stature, Crypto...	ORPHA:1272
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome	Epicanthus, Cataract, Rhizomelia, Sclerocornea, Microcornea, Ectopia pupillae, Long eyelashes, Lo...	OMIM:615877
Pontocerebellar Hypoplasia, Type 7	Apnea, Synophrys, Low-set ears, Macrotia, Hirsutism	OMIM:614969
Osteogenesis Imperfecta, Type Xxii	Intrauterine growth retardation, Short stature, Dentinogenesis imperfecta, Hearing impairment	OMIM:619795
Proteasome-Associated Autoinflammatory Syndrome 1	Microcytic anemia, Adipose tissue loss, Flexion contracture, Premature graying of hair, Conjuncti...	OMIM:256040
Desmosterolosis	Low-set, posteriorly rotated ears, Epicanthus, Aplasia/Hypoplasia of the skin, Failure to thrive,...	ORPHA:35107
Copper Deficiency, Familial Benign	Curly hair, Failure to thrive, Early balding, Anemia	OMIM:121270
Pigmented Nodular Adrenocortical Disease, Primary, 1	Secondary amenorrhea, Truncal obesity, Thin skin, Striae distensae	OMIM:610489
Linear Skin Defects With Multiple Congenital Anomalies 3	Delayed eruption of primary teeth, Thyroid C cell hyperplasia, Sclerocornea, Asymmetric, linear s...	OMIM:300952
Walker-Warburg Syndrome	Cataract, Posteriorly rotated ears, Corneal opacity, Cryptorchidism, Submucous cleft hard palate,...	ORPHA:899
Intellectual Developmental Disorder With Hypotonia, Impaired Speech, And Dysmorphic Facies	Large fleshy ears	OMIM:619556
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome	Decreased number of peripheral myelinated nerve fibers, Optic disc pallor, Peripheral axonal neur...	ORPHA:320406
Osteogenesis Imperfecta, Type V	Short stature, Dentinogenesis imperfecta	OMIM:610967
Peroxisome Biogenesis Disorder 1A (Zellweger)	Redundant neck skin, Micrognathia, High, narrow palate, High palate, Neonatal respiratory distres...	OMIM:214100
X-Linked Intellectual Disability, Najm Type	Sensorineural hearing impairment, Macrotia	ORPHA:163937
Curry-Jones Syndrome	Aplasia/Hypoplasia of the skin, Optic disc coloboma, Hypopigmented skin patches, Generalized hirs...	ORPHA:1553
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures	Macrotia	OMIM:620292
Combined Oxidative Phosphorylation Defect Type 7	Decreased number of peripheral myelinated nerve fibers, Peripheral axonal neuropathy, Ataxia, Ina...	ORPHA:254930
Roberts Syndrome	Cataract, Progressive flexion contractures, Cleft upper lip, Micrognathia, Cryptorchidism, Extern...	ORPHA:3103
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome	Tented upper lip vermilion, Synophrys, Flexion contracture, Webbed neck, Downturned corners of mo...	ORPHA:487796
Deafness-Lymphedema-Leukemia Syndrome	Abnormal neutrophil count, Splenomegaly, Sensorineural hearing impairment, Leukocytosis, Weight l...	ORPHA:3226
Ververi-Brady Syndrome	Macrotia, Cupped ear, Low-set ears	OMIM:617982
Koolen-De Vries Syndrome Due To A Point Mutation	Numerous nevi, Decreased response to growth hormone stimulation test, Pineal cyst, Protruding ear...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Numerous nevi, Decreased response to growth hormone stimulation test, Pineal cyst, Protruding ear...	ORPHA:363958
3Mc Syndrome 1	Conjunctival telangiectasia, Omphalocele, Telecanthus, Sacral dimple, Dental crowding, Supernumer...	OMIM:257920
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome	Pallor, Increased body weight	ORPHA:276608
Tyrosinemia Type 2	Corneal opacity, Hyperkeratosis, Palmoplantar keratoderma, Malar flattening, Abnormality of the nail	ORPHA:28378
Non-Functioning Paraganglioma	Paraganglioma of head and neck, Pulsatile tinnitus, Cranial nerve compression, Weight loss, Pallo...	ORPHA:94080
Breath-Holding Spells	Iron deficiency anemia, Pallor	OMIM:607578
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects	Macrotia, Low-set ears	OMIM:616789
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts	Reticulocytopenia, Anisopoikilocytosis, Hepatosplenomegaly, Growth delay, Azoospermia, Decreased ...	ORPHA:300298
Nijmegen Breakage Syndrome	Abnormal hair quantity, Hemolytic anemia, Autoimmune hemolytic anemia, Short stature, Cachexia, A...	ORPHA:647
Syndromic Diarrhea	Lymphopenia, Hypopigmentation of hair, Brittle hair, Inguinal hernia, Small for gestational age, ...	ORPHA:84064
Omenn Syndrome	Alopecia, Failure to thrive, Pneumonia, Eosinophilia, Splenomegaly, Leukocytosis, Anemia, Abnorma...	ORPHA:39041
Microphthalmia With Brain And Digit Anomalies	Cataract, Sclerocornea, Cryptorchidism, Sensorineural hearing impairment, Microcornea, High palat...	ORPHA:139471
Familial Focal Epilepsy With Variable Foci	Pallor	ORPHA:98820
Khan-Khan-Katsanis Syndrome	Lymphopenia, Sacral dimple, Tented upper lip vermilion, Short stature, Trichiasis, Highly arched ...	OMIM:618460
Neuropathy, Hereditary Sensory And Autonomic, Type Iia	Decreased number of peripheral myelinated nerve fibers, Paronychia, Hypogeusia, Acral ulceration	OMIM:201300
Histiocytosis-Lymphadenopathy Plus Syndrome	Decreased response to growth hormone stimulation test, Corneal arcus, Joint contracture of the 5t...	OMIM:602782
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Sideroblastic anemia, Delayed CNS myelination, Brittle hair, Splenomegaly, Sensorineural hearing ...	OMIM:616084
Osteogenesis Imperfecta, Type Ix	Disproportionate short-limb short stature, Dentinogenesis imperfecta	OMIM:259440
Cole-Carpenter Syndrome	Delayed eruption of teeth, Short stature, Abnormal dental enamel morphology, Micrognathia, Intrau...	ORPHA:2050
Pituitary Apoplexy	Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Elevated c...	ORPHA:95613
Non-Specific Early-Onset Epileptic Encephalopathy	Short stature, Optic atrophy, Hypodontia, Abnormal myelination, Failure to thrive, Downslanted pa...	ORPHA:442835
Coffin-Siris Syndrome	Low anterior hairline, Hernia, Aspiration pneumonia, Cryptorchidism, Prominent eyelashes, Small n...	ORPHA:1465
Ssr4-Cdg	Macrotia	ORPHA:370927
Lathosterolosis	Epicanthus, Cataract, Hearing impairment, Micrognathia, Gingival overgrowth, Abnormal platelet mo...	ORPHA:46059
Cataract 21, Multiple Types	Corneal opacity, Cerulean cataract, Microcornea, Cortical pulverulent cataract, Peters anomaly, I...	OMIM:610202
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia	Hemolytic anemia, Reticulocytosis, Short stature, Hepatosplenomegaly, Decreased mean corpuscular ...	OMIM:611590
X-Linked Corneal Dermoid	Abnormal pupil morphology, Corneal opacity	ORPHA:1661
Superficial Epidermolytic Ichthyosis	Palmoplantar keratoderma, Erythema, Thin skin, Acantholysis	ORPHA:455
Lowe Oculocerebrorenal Syndrome	Failure to thrive, Short stature, Camptodactyly of finger, Postnatal growth retardation, Cryptorc...	OMIM:309000
Keratoendotheliitis Fugax Hereditaria	Keratitis, Conjunctival hyperemia, Opacification of the corneal stroma	OMIM:148200
Fryns Syndrome	Omphalocele, Low-set, posteriorly rotated ears, Tented upper lip vermilion, Median cleft lip, Cor...	ORPHA:2059
Cutis Laxa, Autosomal Dominant 3	Corneal opacity, Postnatal growth retardation, Protruding ear, Cutis laxa, Developmental cataract...	OMIM:616603
Distal Monosomy 7Q36	Macrotia	ORPHA:1636
Chronic Graft Versus Host Disease	Fasciitis, Flexion contracture, Abnormality of skin pigmentation, Cough, Skin vesicle, Alopecia, ...	ORPHA:99921
Deafness, Autosomal Dominant 39, With Dentinogenesis Imperfecta 1	High-frequency hearing impairment, Tinnitus, Dentinogenesis imperfecta, Bilateral sensorineural h...	OMIM:605594
Lattice Corneal Dystrophy Type I	Subepithelial corneal opacities, Corneal opacity, Central opacification of the cornea, Corneal sc...	ORPHA:98964
Hermansky-Pudlak Syndrome 8	Optic disc pallor, Epistaxis, Albinism, Silver-gray hair, Myopic astigmatism, Blue irides, Ocular...	OMIM:614077
Melnick-Needles Syndrome	Delayed eruption of teeth, Obtuse angle of mandible, Omphalocele, Failure to thrive, Micrognathia...	OMIM:309350
Oculocutaneous Albinism Type 1B	Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism, Melanocytic nevus, Freck...	ORPHA:79434
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Thin upper lip vermilion, Inguinal hernia, Redundant neck skin, Micrognathia, Postnatal growth re...	ORPHA:1655
Beta-Thalassemia Intermedia	Hypoparathyroidism, Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Anemia of inadequate...	ORPHA:231222
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia	Hypogonadotropic hypogonadism, Sparse axillary hair, Sparse pubic hair, Secondary amenorrhea, Abn...	OMIM:228300
Idiopathic Pulmonary Hemosiderosis	Crackles, Dyspnea, Hepatosplenomegaly, Restrictive ventilatory defect, Respiratory failure, Iron ...	ORPHA:99931
Charcot-Marie-Tooth Disease Type 1F	Demyelinating sensory neuropathy, Optic nerve hypoplasia, Demyelinating motor neuropathy, Decreas...	ORPHA:101085
Congenital Limbs-Face Contractures-Hypotonia-Developmental Delay Syndrome	Macrotia, Respiratory insufficiency, Abnormal pattern of respiration, Low-set ears	ORPHA:562528
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome	Gait disturbance, Decreased testicular size, Cerebellar dysplasia	ORPHA:457240
Barth Syndrome	Mandibular prognathia, Fair hair, Cyclic neutropenia, Macrotia, Hypochromic microcytic anemia, Gr...	OMIM:302060
Hyperinsulinism Due To Hnf1A Deficiency	Small for gestational age, Pallor, Large for gestational age	ORPHA:324575
Rheumatic Fever	Macule, Sinusitis, Epistaxis, Subcutaneous nodule, Erythema, Respiratory insufficiency, Pallor	ORPHA:3099
Erythrokeratodermia Variabilis Et Progressiva 7	Woolly hair, Dystrophic toenail, Palmoplantar hyperkeratosis	OMIM:619209
Peters Plus Syndrome	Micrognathia, Peters anomaly, Microcornea, Widely spaced teeth, Conductive hearing impairment, Ir...	ORPHA:709
Osteoporosis-Pseudoglioma Syndrome	Preauricular skin tag, Short stature, Corneal opacity	ORPHA:2788
Fryns Syndrome	Ectopic pancreatic tissue, Tented upper lip vermilion, Large for gestational age, Microretrognath...	OMIM:229850
Congenital Dyserythropoietic Anemia Type Iii	Short stature, Anisocytosis, Abnormal erythrocyte morphology, Increased mean corpuscular volume, ...	ORPHA:98870
8Q24.3 Microdeletion Syndrome	Skin tags, Respiratory distress, Ectopic posterior pituitary, Naevus flammeus of the eyelid, Clef...	ORPHA:508488
Holoprosencephaly 9	Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Hypoplasia ...	OMIM:610829
Intellectual Disability-Strabismus Syndrome	Highly arched eyebrow, Synophrys, Low-set ears, Recurrent otitis media, Macrotia, Hearing impairment	ORPHA:363528
Stickler Syndrome	Micrognathia, Hypoplasia of the maxilla, Glossoptosis, Advanced eruption of teeth, Short stature,...	ORPHA:828
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Respiratory distress, Flexion contracture, Leukopenia, Conjunctivitis, Hernia, Hepatosplenomegaly...	ORPHA:505248
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease	Abnormal eyebrow morphology, Hypopigmentation of hair, Telecanthus, Splenomegaly, Sensorineural h...	ORPHA:163746
Pmp22-Rai1 Contiguous Gene Duplication Syndrome	Decreased number of peripheral myelinated nerve fibers, Thin upper lip vermilion, Abnormal pinna ...	ORPHA:477817
Combined Immunodeficiency Due To Crac Channel Dysfunction	Hemolytic anemia, Pneumonia, Splenomegaly, Hypoplasia of the iris, Hypocalcification of dental en...	ORPHA:169090
Cyclic Vomiting Syndrome	Growth delay, Pallor, Hearing impairment	OMIM:500007
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly	Epicanthus, Dry hair, Mongolian blue spot, Low anterior hairline, Preauricular skin tag	OMIM:618569
Postaxial Acrofacial Dysostosis	Supernumerary nipple, Micrognathia, Conical tooth, Cryptorchidism, Cleft upper lip, Cupped ear, P...	OMIM:263750
Immunodeficiency 9	Respiratory insufficiency due to muscle weakness, Hypoplasia of the thymus, Recurrent aphthous st...	OMIM:612782
Intellectual Developmental Disorder, X-Linked, Syndromic 13	Macrotia, Apnea	OMIM:300055
Tetrasomy 9P	Dental crowding, Micrognathia, Downturned corners of mouth, Inappropriate behavior, High palate, ...	ORPHA:3310
Cerebrooculonasal Syndrome	Epicanthus, Sparse eyelashes, Posteriorly rotated ears, Optic nerve hypoplasia, Sparse eyebrow, C...	OMIM:605627
Fabry Disease	Conjunctival telangiectasia, Cataract, Short stature, Corneal dystrophy, Corneal opacity, Dyspnea...	ORPHA:324
Oculocutaneous Albinism Type 1A	Hypopigmentation of hair, Albinism, Ocular albinism, Hyperkeratosis, Freckling, Hypopigmentation ...	ORPHA:79431
Ectodermal Dysplasia And Immunodeficiency 2	Sparse scalp hair, Conical tooth, Splenomegaly, Dry skin, Aplasia of the sweat glands, Hypodontia...	OMIM:612132
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome	Tented upper lip vermilion, Synophrys, Large fleshy ears, High palate, Prominent superior crus of...	ORPHA:280633
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige	Psoriasiform dermatitis, Acantholysis, Orthokeratosis, Growth delay, Palmoplantar keratoderma, Sp...	OMIM:615508
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Micrognathia, Flexion contracture, Knee flexion contracture, Short philtrum, Sparse hair, Sparse ...	OMIM:210710
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis	Delayed eruption of teeth, Thin upper lip vermilion, Mixed hearing impairment, Cataract, Dental c...	OMIM:300990
Mandibuloacral Dysplasia Progeroid Syndrome	Short stature, Elevated hemoglobin A1c, Micrognathia, Sparse eyebrow, Intra-oral hyperpigmentatio...	OMIM:619127
Cole-Carpenter Syndrome 1	Short stature, Micrognathia, Shallow orbits, Microdontia, Dentinogenesis imperfecta, Orbital cran...	OMIM:112240
Williams Syndrome	Redundant skin, Micrognathia, Hypoplastic toenails, Protruding ear, Microdontia, Megalocornea, Ab...	ORPHA:904
Chédiak-Higashi Syndrome	Large clumps of pigment irregularly distributed along hair shaft, Vacuolated lymphocytes, Periodo...	ORPHA:167
Huriez Syndrome	Aplasia/Hypoplasia of the skin, Lack of skin elasticity, Palmoplantar keratoderma, Small nail, Dr...	ORPHA:384
Alpha-Mannosidosis, Adult Form	Optic disc pallor, Mixed hearing impairment, Cataract, Corneal opacity, Pneumonia, Pancytopenia, ...	ORPHA:309288
Menkes Disease	Hypopigmentation of hair, Inguinal hernia, Micrognathia, Atypical scarring of skin, Umbilical her...	ORPHA:565
Mosaic Trisomy 1	Microretrognathia, Omphalocele, Abnormal pinna morphology, Camptodactyly of finger, Congenital di...	ORPHA:1692
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome	Respiratory distress, Hearing abnormality, Aplasia/Hypoplasia of the earlobes, Thickened helices,...	ORPHA:1555
Spontaneous Periodic Hypothermia	Pallor, Abnormal pattern of respiration	ORPHA:29822
Sotos Syndrome	Posteriorly rotated ears, Sparse eyebrow, Low-set ears, Otitis media, Conductive hearing impairme...	OMIM:117550
Adams-Oliver Syndrome 4	Hypoplastic toenails, Umbilical hernia, Toenail dysplasia, Aplasia cutis congenita	OMIM:615297
Congenital Tufting Enteropathy	Cataract, Corneal erosion, Optic disc coloboma, Orofacial cleft, Weight loss, Punctate keratitis,...	ORPHA:92050
Gardner Syndrome	Neoplasm of the pancreas, Epidermoid cyst, Abnormality of the dentition, Pilomatrixoma, Supernume...	ORPHA:79665
Osteogenesis Imperfecta, Type Iii	Micrognathia, Disproportionate short-limb short stature, Pulmonary arterial hypertension, Neonata...	OMIM:259420
3Q29 Microdeletion Syndrome	Failure to thrive, Cataract, Dental crowding, Abnormality of the dentition, Orofacial cleft, Abno...	ORPHA:65286
Hyperinsulinism Due To Ucp2 Deficiency	Pallor, Large for gestational age	ORPHA:276556
Corneal Dystrophy, Meesmann, 2	Recurrent corneal erosions	OMIM:618767
Dysostosis, Stanescu Type	Short stature, Abnormal dental enamel morphology, Abnormality of the dentition, Hypoplasia of the...	ORPHA:1798
Fumarase Deficiency	Reduced subcutaneous adipose tissue, Conjunctival icterus, Optic atrophy, High palate, Pallor, Fa...	OMIM:606812
Retinitis Pigmentosa 51	Bone spicule pigmentation of the retina, Obesity, Pallor	OMIM:613464
Johanson-Blizzard Syndrome	Downturned corners of mouth, Hypoplasia of the primary teeth, Aplasia cutis congenita of scalp, A...	OMIM:243800
Intellectual Developmental Disorder, Autosomal Recessive 71	Macrotia	OMIM:618504
Fanconi Anemia, Complementation Group A	Male infertility, Pancytopenia, Small for gestational age, Hypergonadotropic hypogonadism, Short ...	OMIM:227650
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency	Pallor, Large for gestational age	ORPHA:276575
Dyschondrosteosis-Nephritis Syndrome	Short stature, Corneal opacity, Mesomelic short stature, Microdontia, Intrauterine growth retarda...	ORPHA:1765
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency	Pallor, Large for gestational age	ORPHA:276580
Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome	Sparse scalp hair, Thin upper lip vermilion, Supernumerary nipple, Abnormality of canine, Sparse ...	ORPHA:477993
Congenital Heart Block	Intrauterine growth retardation, Pleural effusion, Pallor, Crackles	ORPHA:60041
Woodhouse-Sakati Syndrome	Alopecia, Premature ovarian insufficiency, Hypogonadotropic hypogonadism, Hypergonadotropic hypog...	OMIM:241080
Cahmr Syndrome	Generalized hypertrichosis	OMIM:211770
Hereditary Folate Malabsorption	Pancytopenia, Eosinophilia, Megaloblastic anemia, Cheilitis, Pallor, Failure to thrive, Glossitis...	ORPHA:90045
Pseudo-Torch Syndrome 1	Microretrognathia, Cataract, Cleft lip, Thrombocytopenia, Splenomegaly, High palate, Low-set ears...	OMIM:251290
Autosomal Recessive Spastic Paraplegia Type 67	Abnormal myelination	ORPHA:401820
Lysinuric Protein Intolerance	Short stature, Thrombocytopenia, Splenomegaly, Respiratory insufficiency, Fine hair, Cutis laxa, ...	OMIM:222700
Autosomal Recessive Spastic Paraplegia Type 57	Optic atrophy, Abnormal myelination	ORPHA:431329
Ring Chromosome 7 Syndrome	Unilateral ptosis, Mandibular prognathia, Low anterior hairline, Abnormality of skin pigmentation...	ORPHA:1449
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Respiratory distress, Epicanthus, Median cleft lip, Short stature, Accessory oral frenulum, Splen...	OMIM:617088
Gabriele-De Vries Syndrome	Decreased response to growth hormone stimulation test, Micrognathia, High palate, Abnormality of ...	ORPHA:506358
Orofaciodigital Syndrome Type 14	Microretrognathia, Low-set, posteriorly rotated ears, Telecanthus, Abnormal myelination, Accessor...	ORPHA:434179
Fanconi Anemia, Complementation Group D2	Pancytopenia, Small for gestational age, Hypergonadotropic hypogonadism, Short stature, Anemic pa...	OMIM:227646
Microhydranencephaly	Macrotia	OMIM:605013
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type	Macrotia, Patchy alopecia, Thick eyebrow, Protruding ear	OMIM:300534
Evans Syndrome	Autoimmune hemolytic anemia, Epistaxis, Autoimmune thrombocytopenia, Dyspnea, Neutropenia in pres...	ORPHA:1959
Xeroderma Pigmentosum Variant	Freckles in sun-exposed areas, Keratitis, Dermal atrophy, Dry skin, Hypopigmentation of the skin,...	ORPHA:90342
Kagami-Ogata Syndrome	Omphalocele, Pursed lips, Inguinal hernia, Respiratory failure requiring assisted ventilation, Mi...	ORPHA:254519
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome	Respiratory failure requiring assisted ventilation, Sparse eyebrow, Recurrent pneumonia, Respirat...	ORPHA:496641
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome	Respiratory distress, Sparse scalp hair, Neonatal respiratory distress, Sparse eyelashes, Sparse ...	OMIM:614748
Sepsis In Premature Infants	Small for gestational age, Abnormal mucociliary clearance, Dyspnea, Nasal flaring, Leukocytosis, ...	ORPHA:90051
Neuromuscular Oculoauditory Syndrome	Respiratory distress, Epicanthus, Posteriorly rotated ears, Retinal pigment epithelial mottling, ...	OMIM:618733
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Cataract, Corneal opacity, Optic nerve hypoplasia, Cleft upper lip, Micrognathia, Cryptorchidism,...	OMIM:236670
Chromosome 18Q Deletion Syndrome	Sensorineural hearing impairment, Asthma, Low anterior hairline, Atresia of the external auditory...	OMIM:601808
Intellectual Developmental Disorder, Autosomal Dominant 58	Macrotia, Posteriorly rotated ears, Hypoplastic fifth toenail	OMIM:618106
Ramon Syndrome	Delayed eruption of teeth, Optic disc pallor, Short stature, Gingival fibromatosis, Narrow palate...	OMIM:266270
Glutaric Acidemia I	Choreoathetosis, Symmetrical progressive peripheral demyelination, Delayed myelination	OMIM:231670
Hypophosphatemic Rickets, Autosomal Recessive, 2	Carious teeth, Short stature, Hypoplasia of teeth	OMIM:613312
Emanuel Syndrome	Recurrent otitis media, Low-set ears, Cough, Severe hearing impairment, Macrotia, Hearing impairment	ORPHA:96170
Osteogenesis Imperfecta, Type X	Respiratory distress, Inguinal hernia, Short stature, Rhizomelia, Micrognathia, Recurrent pneumon...	OMIM:613848
Fanconi Anemia, Complementation Group E	Pancytopenia, Small for gestational age, Hypergonadotropic hypogonadism, Short stature, Anemic pa...	OMIM:600901
Mannosidosis, Alpha B, Lysosomal	Sensorineural hearing impairment, Low anterior hairline, Macrotia, Thick eyebrow, Hypertrichosis	OMIM:248500
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Large fleshy ears, Pleural effusion, Posteriorly rotated ears, Low-set ears	OMIM:616897
Emanuel Syndrome	Recurrent sinusitis, Low-set ears, Recurrent otitis media, Macrotia, Hearing impairment	OMIM:609029
Chromosome 2P16.1-P15 Deletion Syndrome	Posteriorly rotated ears, Sensorineural hearing impairment, Low-set ears, Macrotia, Hearing impai...	OMIM:612513
Intellectual Developmental Disorder, Autosomal Dominant 66	Sparse hair, Low-set ears	OMIM:619910
Yunis-Varon Syndrome	Redundant neck skin, Sclerocornea, Micrognathia, Palmoplantar hyperkeratosis, Protruding ear, Sho...	OMIM:216340
Hereditary Pheochromocytoma-Paraganglioma	Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Pulsatile tinnitus, Cranial nerve ...	ORPHA:29072
Warburg Micro Syndrome 2	Macrotia, Low anterior hairline, Asymmetry of the ears	OMIM:614225
Dyrk1A-Related Intellectual Disability Syndrome	Optic disc pallor, Failure to thrive, Multiple joint contractures, Small for gestational age, Ant...	ORPHA:464306
Primrose Syndrome	Bilateral cryptorchidism, Hypoplasia of the maxilla, Synophrys, Flexion contracture, Knee flexion...	OMIM:259050
Isolated Congenital Alacrima	Keratitis, Corneal erosion, Lacrimal gland hypoplasia, Conjunctivitis, Lacrimal punctal atresia, ...	ORPHA:91416
Duplication Of The Pituitary Gland	Short stature, Supernumerary tooth, Abnormal pituitary gland morphology, Abnormality of the tongu...	ORPHA:314621
Rutherfurd Syndrome	Failure of eruption of permanent teeth, Corneal dystrophy, Delayed eruption of primary teeth, Opa...	OMIM:180900
Waldenström Macroglobulinemia	Normocytic anemia, Purpura, Epistaxis, Abnormality of neutrophils, Splenomegaly, Respiratory insu...	ORPHA:33226
Lacrimoauriculodentodigital Syndrome 2	Absent lacrimal punctum, Conical tooth, Carious teeth, Cupped ear, Lacrimal duct atresia, Lacrima...	OMIM:620192
47,Xyy Syndrome	Male infertility, Macroorchidism, Cryptorchidism, Oligozoospermia, Azoospermia, Dysgenesis of the...	ORPHA:8
Micro Syndrome	Low-set, posteriorly rotated ears, Macrotia, Generalized hirsutism	ORPHA:2510
Spondylometaphyseal Dysplasia With Corneal Dystrophy	Neonatal respiratory distress, Corneal opacity	OMIM:618961
Kabuki Syndrome 1	Micrognathia, Protruding ear, High palate, Recurrent aspiration pneumonia, Preauricular pit, Hemo...	OMIM:147920
Optic Atrophy 11	Macrotia, Hearing impairment	OMIM:617302
Turner Syndrome Due To Structural X Chromosome Anomalies	Micrognathia, Hypoplastic toenails, High, narrow palate, Delayed early-childhood social milestone...	ORPHA:99413
Mosaic Monosomy X	Micrognathia, Hypoplastic toenails, High, narrow palate, Delayed early-childhood social milestone...	ORPHA:99228
Monosomy X	Micrognathia, Hypoplastic toenails, High, narrow palate, Delayed early-childhood social milestone...	ORPHA:99226
Turner Syndrome	Micrognathia, Hypoplastic toenails, High, narrow palate, Delayed early-childhood social milestone...	ORPHA:881
Infantile Osteopetrosis With Neuroaxonal Dysplasia	Conductive hearing impairment, Pneumonia, Abnormal myelination	ORPHA:85179
Pycnodysostosis	Ridged nail, Delayed eruption of primary teeth, Persistence of primary teeth, Absent frontal sinu...	OMIM:265800
Hereditary Spherocytosis	Reticulocytosis, Extramedullary hematopoiesis, Spontaneous hemolytic crises, Splenomegaly, Sphero...	ORPHA:822
Fanconi Anemia	Abnormal eyelid morphology, Micrognathia, Abnormality of skin pigmentation, Leukopenia, High pala...	ORPHA:84
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type	Macrotia, Low-set ears	OMIM:300260
Fanconi Anemia, Complementation Group P	Pancytopenia, Short stature, Micrognathia, Cryptorchidism, Growth delay, Anemia, Blepharophimosis...	OMIM:613951
Paternal Uniparental Disomy Of Chromosome 1	Short stature, Abnormal dental enamel morphology, Obesity, Delayed puberty, Episodic hemolytic an...	ORPHA:251004
Lmna-Related Cardiocutaneous Progeria Syndrome	Absent eyebrow, Lipoatrophy, Absent eyelashes, Pulmonary carcinoid tumor, Premature graying of ha...	ORPHA:363618
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Reticulocytosis, Splenomegaly, Conjunctival icterus, Increased mean corpuscular hemoglobin concen...	OMIM:194380
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome	Low-set, posteriorly rotated ears, Macrotia	ORPHA:1110
De Sanctis-Cacchione Syndrome	Parakeratosis, Entropion, Severe short stature, Hypermelanotic macule, Bilateral cryptorchidism, ...	OMIM:278800
Limbal Stem Cell Deficiency	Opacification of the corneal epithelium, Generalized opacification of the cornea, Keratitis, Corn...	ORPHA:171673
Scheie Syndrome	Corneal opacity, Splenomegaly, Sensorineural hearing impairment, Wide mouth, Rhinitis, Thick verm...	ORPHA:93474
Thrombocytopenia-Absent Radius Syndrome	Delayed CNS myelination, Cataract, Short stature, Corneal opacity, Eosinophilia, Micrognathia, Pa...	OMIM:274000
Spinocerebellar Degeneration And Corneal Dystrophy	Corneal stromal edema, Corneal dystrophy, Opacification of the corneal stroma	OMIM:271310
Toriello-Lacassie-Droste Syndrome	Epicanthus, Telecanthus, Aplasia/Hypoplasia of the skin, Generalized hyperpigmentation, Blepharop...	ORPHA:3339
Mucopolysaccharidosis Type 2, Severe Form	Flexion contracture, Conductive hearing impairment, Papilledema, Abnormal dental morphology, Shor...	ORPHA:217085
Corneal Dystrophy And Perceptive Deafness	Sensorineural hearing impairment, Corneal dystrophy, Opacification of the corneal stroma	OMIM:217400
Craniosynostosis And Dental Anomalies	Mandibular prognathia, Delayed eruption of teeth, Stapes ankylosis, Papilledema, Dental crowding,...	OMIM:614188
Pearson Marrow-Pancreas Syndrome	Sideroblastic anemia, Pancytopenia, Small for gestational age, Pancreatic fibrosis, Refractory si...	OMIM:557000
Waardenburg Syndrome, Type 4C	White eyelashes, White eyebrow, Cryptorchidism, Sensorineural hearing impairment, Blue irides, Hy...	OMIM:613266
Diarrhea 3, Secretory Sodium, Congenital, With Or Without Other Congenital Anomalies	Corneal erosion, Optic disc coloboma, Cleft palate, Cutis laxa, Low-set ears	OMIM:270420
Albinism, Oculocutaneous, Type Ia	Hypopigmentation of hair, Albinism, Absent skin pigmentation, White hair, Blue irides, Ocular alb...	OMIM:203100
Epithelial Recurrent Erosion Dystrophy	Subepithelial corneal opacities, Corneal dystrophy, Irregular astigmatism, Corneal scarring, Kera...	ORPHA:293381
Wolf-Hirschhorn Syndrome	Micrognathia, Orofacial cleft, Downturned corners of mouth, Hyperconvex fingernails, Short philtr...	OMIM:194190
Mucopolysaccharidosis Type 2, Attenuated Form	Flexion contracture, Conductive hearing impairment, Papilledema, Abnormal dental morphology, Shor...	ORPHA:217093
Dravet Syndrome	Pallor	ORPHA:33069
Letterer-Siwe Disease	Dyspnea, Thrombocytopenia, Hepatosplenomegaly, Pallor, Neutropenia, Stomatitis, Anemia	OMIM:246400
Epidermolysis Bullosa Simplex 5C, With Pyloric Atresia	Neonatal death, Aplasia cutis congenita, Flexion contracture, Microtia	OMIM:612138
Gm1 Gangliosidosis Type 1	Aspiration pneumonia, Low-set ears, Macrotia, Hirsutism, Hearing impairment	ORPHA:79255
Histiocytoid Cardiomyopathy	Corneal opacity, Tachypnea, Optic atrophy, Cleft palate, Polycystic ovaries, Pallor, Cough, Megal...	ORPHA:137675
Cystic Fibrosis-Gastritis-Megaloblastic Anemia Syndrome	Macrotia	ORPHA:2575
Dermatomyositis	Abnormal hair quantity, Aplasia/Hypoplasia of the skin, Abnormal eosinophil morphology, Abnormal ...	ORPHA:221
Large Congenital Melanocytic Nevus	Congenital giant melanocytic nevus, Subcutaneous nodule, Hypopigmented skin patches, Abnormality ...	ORPHA:626
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency	Pallor, Ptosis	ORPHA:13
Phelan-Mcdermid Syndrome	Hypoplastic toenails, Protruding ear, Long eyelashes, Macrotia, Toenail dysplasia, Thick eyebrow,...	OMIM:606232
Combined Immunodeficiency-Enteropathy Spectrum	Omphalocele, Absent eyebrow, Autoimmune hemolytic anemia, Psoriasiform dermatitis, Hypoplasia of ...	ORPHA:436252
Ring Chromosome 13 Syndrome	Epicanthus, Alopecia, Hypoplasia of the gallbladder, Posteriorly rotated ears, Micrognathia, Abno...	ORPHA:96176
Wilson Disease	Abnormality of the menstrual cycle, Thrombocytopenia, Splenomegaly, Increased body weight, Weight...	ORPHA:905
Orofaciodigital Syndrome Xiv	Microretrognathia, Natal tooth, Telecanthus, Posteriorly rotated ears, Hamartoma of tongue, Micro...	OMIM:615948
Autoinflammation, Antibody Deficiency, And Immune Dysregulation	Cataract, Corneal erosion, Erythema, Decreased proportion of class-switched memory B cells, Inter...	OMIM:614878
Adenohypophysitis	Decreased female libido, Reduced circulating prolactin concentration, Decreased male libido, Adre...	ORPHA:95512
Ankyloglossia With Or Without Tooth Anomalies	Supernumerary tooth, Ankyloglossia	OMIM:106280
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome	Overfolded helix, Macrotia	ORPHA:324410
Kikuchi-Fujimoto Disease	Macule, Erythematous macule, Alopecia, Palpebral edema, Thrombocytopenia, Skin nodule, Erythema, ...	ORPHA:50918
Adams-Oliver Syndrome 3	Hypoplastic fifth fingernail, Aplasia cutis congenita, Short palpebral fissure	OMIM:614814
Recessive X-Linked Ichthyosis	Hyperkeratosis, Cryptorchidism, Dry skin, Opacification of the corneal stroma	ORPHA:461
Panhypophysitis	Decreased female libido, Reduced circulating prolactin concentration, Decreased male libido, Adre...	ORPHA:95513
Leigh Syndrome	Alopecia, Sensorineural hearing impairment, Respiratory failure, Frontal hirsutism, Macrotia, Abn...	ORPHA:506
Granular Corneal Dystrophy Type I	Subepithelial corneal opacities, Abnormal corneal epithelium morphology, Central opacification of...	ORPHA:98962
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Papilledema, Spontaneous, recurrent epistaxis, Pancytopenia, Corneal opacity, Cachexia, Abnormali...	ORPHA:2072
Oculo-Palato-Cerebral Syndrome	Thickened helices, Asthma, Macrotia, Aplasia/Hypoplasia of the nails	ORPHA:2714
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Acute myeloid leukemia, Neutrophilia, Eosinophilia, Splenomegaly, Leukocytosis...	ORPHA:98849
Ehlers-Danlos Syndrome, Classic-Like, 2	Macrotia, Thin eyebrow, Low posterior hairline	OMIM:618000
Oculoauricular Syndrome	Cataract, Sclerocornea, Nasolacrimal duct obstruction, Developmental cataract, Microcornea, Iris ...	OMIM:612109
Mitochondrial Complex Iii Deficiency, Nuclear Type 1	Ptosis, Delayed CNS myelination, Brittle hair, Cataract, Neonatal death, Failure to thrive, Heari...	OMIM:124000
Cystinosis, Nephropathic	Male infertility, Hypopigmentation of hair, Failure to thrive in infancy, Short stature, Retinal ...	OMIM:219800
Autosomal Recessive Spastic Paraplegia Type 70	Abnormal myelination	ORPHA:401835
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8	Woolly hair	OMIM:607450
Osteogenesis Imperfecta	Abnormality of dental color, Micrognathia, Flexion contracture, Neonatal respiratory distress, Sh...	ORPHA:666
Liver Disease, Severe Congenital	Dry hair, Micrognathia, Biliary hyperplasia, Leukopenia, Lymphocytosis, Cough, Pancreatic hypopla...	OMIM:619991
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2	Micrognathia, Large for gestational age, Flexion contracture, Knee flexion contracture, Downturne...	OMIM:300868
Mitochondrial Dna-Associated Leigh Syndrome	Apnea, Segmental peripheral demyelination/remyelination, Dyspnea, Sensorineural hearing impairmen...	ORPHA:255210
Intellectual Developmental Disorder, X-Linked, Syndromic, Christianson Type	Macrotia, Thick eyebrow	OMIM:300243
Pyruvate Kinase Deficiency Of Red Cells	Decreased hemoglobin concentration, Reticulocytosis, Reduced red cell pyruvate kinase level, Sple...	OMIM:266200
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome	Synophrys, Macrotia, Hirsutism, Low posterior hairline	ORPHA:2463
X-Linked Intellectual Disability, Nascimento Type	Lumbar hypertrichosis, Abnormal hair whorl, Synophrys, Low posterior hairline, Nail dystrophy, Pu...	ORPHA:163956
Stromme Syndrome	Accessory spleen, Cataract, Optic nerve hypoplasia, Sclerocornea, Micrognathia, Cleft palate, Wid...	OMIM:243605
Severe Oculo-Renal-Cerebellar Syndrome	Large earlobe, Macrotia	ORPHA:2715
X-Linked Intellectual Disability, Seemanova Type	Macrotia	ORPHA:85323
Lathosterolosis	Thick upper lip vermilion, Epicanthus, Cataract, Bilobate gallbladder, Increased mean platelet vo...	OMIM:607330
Familial Adenomatous Polyposis 1	Epidermoid cyst, Carious teeth, Supernumerary tooth, Eruption failure, Multiple lipomas, Odontoma...	OMIM:175100
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome	Mandibular prognathia, Eunuchoid habitus, Elevated circulating luteinizing hormone level, Sparse ...	ORPHA:3044
Musculocontractural Ehlers-Danlos Syndrome	Low-set, posteriorly rotated ears, External ear malformation, Pneumothorax, Protruding ear, Macro...	ORPHA:2953
Neuhauser Syndrome	Large fleshy ears, Cupped ear, Low anterior hairline	OMIM:249310
Neurodevelopmental Disorder With Coarse Facies And Mild Distal Skeletal Abnormalities	Macrotia, Hypoplastic nipples	OMIM:618505
Rabson-Mendenhall Syndrome	Thick hair, Onychauxis, Low anterior hairline, Premature graying of hair, Macrotia, Hirsutism, Hy...	ORPHA:769
American Trypanosomiasis	Splenomegaly, Dyspnea, Localized skin lesion, Pallor, Cough	ORPHA:3386
Incisors, Lower Central, Absence Of	Agenesis of mandibular central incisor	OMIM:147330
Hb Bart'S Hydrops Fetalis	Abnormal hemoglobin, Splenomegaly, Pallor, Anemia	ORPHA:163596
Sporadic Pheochromocytoma/Secreting Paraganglioma	Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Pulsatile tinnitus, Cranial nerve ...	ORPHA:276621
Charge Syndrome	Eyelid coloboma, Hypoplasia of the semicircular canal, Iris coloboma, Low-set, posteriorly rotate...	ORPHA:138
Keratitis, Hereditary	Keratitis, Opacification of the corneal stroma	OMIM:148190
19P13.13 Microdeletion Syndrome	Macrotia, Long eyelashes, Low-set ears	ORPHA:357001
Central Incisors, Absence Of	Agenesis of central incisor	OMIM:302400
Al-Gazali Syndrome	Corneal opacity, Sclerocornea, Micrognathia, Recurrent pneumonia, Failure to thrive, Wrist flexio...	OMIM:609465
Singleton-Merten Syndrome 1	Thin upper lip vermilion, Short stature, Hypoplasia of the tooth germ, Hypoplasia of the maxilla,...	OMIM:182250
White-Kernohan Syndrome	Synophrys, Broad medial eyebrow, Long eyelashes, Horizontal eyebrow, Low-set ears, Recurrent otit...	OMIM:619426
Aniridia 1	Anterior subcapsular cataract, Cataract, Optic nerve hypoplasia, Ectopia lentis, Bilateral ptosis...	OMIM:106210
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Hypoplasia of the maxilla, Protruding ear, Downturned corners of mouth, Short philtrum, Emphysema...	ORPHA:500150
Piebald Trait	Absent pigmentation of the ventral chest, Partial albinism, Piebaldism, White forelock, Heterochr...	OMIM:172800
Kilquist Syndrome	Mandibular prognathia, Hypoplasia of teeth, Wide mouth, Bilateral sensorineural hearing impairmen...	OMIM:619080
Odontochondrodysplasia 2 With Hearing Loss And Diabetes	Proportionate short stature, Sensorineural hearing impairment, Asthma, Obesity, Growth delay, Del...	OMIM:619269
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome	Loss of subcutaneous adipose tissue in limbs, Dental crowding, Lipodystrophy, Micrognathia, Crypt...	OMIM:615381
Loeys-Dietz Syndrome	Camptodactyly of finger, Micrognathia, Orofacial cleft, Atypical scarring of skin, High palate, T...	ORPHA:60030
Neurodevelopmental Disorder With Poor Growth, Large Ears, And Dysmorphic Facies	Macrotia	OMIM:620194
Sarcoidosis	Increased T cell count, Subcutaneous nodule, Leukopenia, Cough, Emphysema, Hypopigmentation of th...	ORPHA:797
Brachyolmia Type 1, Toledo Type	Childhood-onset short-trunk short stature, Disproportionate short-trunk short stature, Opacificat...	OMIM:271630
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Lymphopenia, Abnormal B cell count, Abnormal T cell count, Autoimmune hemolytic anemia, Eosinophi...	ORPHA:331206
Kbg Syndrome	Posteriorly rotated ears, Synophrys, Low anterior hairline, Protruding ear, Low posterior hairlin...	OMIM:148050
Holzgreve Syndrome	Low-set, posteriorly rotated ears, Macrotia	ORPHA:2167
Carpenter Syndrome 2	Bilateral cryptorchidism, High, narrow palate, Ectropion of lower eyelids, Low anterior hairline,...	OMIM:614976
Developmental And Epileptic Encephalopathy 49	Macrotia, Long eyelashes, Thick eyebrow	OMIM:617281
Cleidocranial Dysplasia 2	Delayed eruption of primary teeth, Hypoplasia of the maxilla, Supernumerary tooth, Failure to thr...	OMIM:620099
Esophageal Atresia	Omphalocele, Respiratory distress, Small for gestational age, Failure to thrive in infancy, Cleft...	ORPHA:1199
Chromosome 16P13.3 Duplication Syndrome	Posteriorly rotated ears, Synophrys, Tracheobronchomalacia, Low anterior hairline, Protruding ear...	OMIM:613458
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency	Pallor, Anemia	OMIM:246450
Cystinosis	Corneal opacity, Failure to thrive, Short stature, Delayed puberty	ORPHA:213
Acute Radiation Syndrome	Cataract, Thrombocytopenia, Skin ulcer, Hyperkeratosis, Interstitial pneumonitis, Dermal atrophy,...	ORPHA:454831
Epidermolysis Bullosa Simplex With Pyloric Atresia	Aplasia cutis congenita on trunk or limbs, Oral mucosal blisters, Scarring alopecia of scalp, Ski...	ORPHA:158684
Hereditary Sensory And Autonomic Neuropathy Type 5	Malar flattening, Abnormality of the gingiva, Decreased number of small peripheral myelinated ner...	ORPHA:64752
X-Linked Endothelial Corneal Dystrophy	Abnormal corneal endothelium morphology, Nuclear cataract, Corneal opacity, Band keratopathy	ORPHA:293621
Otofaciocervical Syndrome 2, With T-Cell Deficiency	Microretrognathia, Preauricular pit, Mixed hearing impairment, Lacrimal duct stenosis, Carious te...	OMIM:615560
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome	Hip contracture, Calcification of the auricular cartilage, Short stature, Cataract, Bilateral cry...	ORPHA:3042
Craniosynostosis 2	Supernumerary tooth, Cleft soft palate	OMIM:604757
Brittle Cornea Syndrome 2	Keratoconus, Inguinal hernia, Flat cornea, Sclerocornea, Keratoglobus, Decreased corneal thicknes...	OMIM:614170
Bdv Syndrome	Macrotia	OMIM:619326
Mucopolysaccharidosis Type 2	Otosclerosis, Inguinal hernia, Papilledema, Abnormality of retinal pigmentation, Short stature, C...	ORPHA:580
Autosomal Dominant Cutis Laxa	Dermal translucency, Inguinal hernia, Redundant neck skin, Corneal opacity, Redundant skin, Postn...	ORPHA:90348
Idiopathic Hypereosinophilic Syndrome	Respiratory distress, Neutrophilia, Eosinophilia, Pulmonary embolism, Dyspnea, Skin nodule, Asthm...	ORPHA:3260
Osteogenesis Imperfecta, Type Xi	Short stature, Dentinogenesis imperfecta, Hearing impairment	OMIM:610968
Ichthyosis, X-Linked	Cryptorchidism, Palmoplantar keratoderma, Testicular neoplasm, Opacification of the corneal stroma	OMIM:308100
Cornea Plana 2, Autosomal Recessive	Flat cornea, Corneal opacity, Sclerocornea, Corneal arcus, Decreased corneal thickness	OMIM:217300
Anterior Segment Dysgenesis 7	Cataract, Corneal opacity, Sclerocornea, Microcornea, Buphthalmos, Anterior synechiae of the ante...	OMIM:269400
Retinitis Pigmentosa 75	Bone spicule pigmentation of the retina, Pallor, Mixed astigmatism	OMIM:617023
8P Inverted Duplication/Deletion Syndrome	Synophrys, Macrotia, Frontal balding	ORPHA:96092
Norrie Disease	Sclerocornea, Abnormal pupil morphology, Protruding ear, Hypoplasia of the iris, Aplasia/Hypoplas...	ORPHA:649
Tolchin-Le Caignec Syndrome	Abnormal vestibular function, Thick eyebrow, Sensorineural hearing impairment, Low-set ears, Macr...	OMIM:618971
Hyperkeratosis Lenticularis Perstans	Papule, Aplasia/Hypoplasia of the skin, Skin ulcer, Hyperkeratosis lenticularis perstans	ORPHA:409
3-Hydroxy-3-Methylglutaric Aciduria	Apnea, Leukocytosis, Tachypnea, Weight loss, Leukopenia, Pallor, Thrombocytosis, Anemia	ORPHA:20
Ophthalmomandibulomelic Dysplasia	Megalocornea, Temporomandibular joint ankylosis, Opacification of the corneal stroma	OMIM:164900
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair	Decreased response to growth hormone stimulation test, Adrenocorticotropic hormone deficiency, Go...	OMIM:609734
Peho Syndrome	External ear malformation, Macrotia	ORPHA:2836
Knobloch Syndrome 2	Enamel hypoplasia, Anterior cortical cataract, Micrognathia	OMIM:618458
46,Xy Sex Reversal 6	Chordee, Hirsutism, Sparse axillary hair	OMIM:613762
Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia	Sensorineural hearing impairment, Macrotia, Intermittent hyperventilation, Hearing impairment	OMIM:300749
Pseudoleprechaunism Syndrome, Patterson Type	Macrotia, Hirsutism	ORPHA:2976
Microphthalmia, Syndromic 6	Failure to thrive, Delayed CNS myelination, Posteriorly rotated ears, Female hypogonadism, Uplift...	OMIM:607932
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10	Woolly hair	OMIM:610193
Familial Pterygium Of The Conjunctiva	Opacification of the corneal stroma	ORPHA:2989
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Pallor, Increased body weight, Large for gestational age	ORPHA:263455
Drug-Induced Autoimmune Hemolytic Anemia	Splenomegaly, Autoimmune hemolytic anemia, Pallor, Exertional dyspnea	ORPHA:90037
Galloway-Mowat Syndrome	Macrotia, Hypoplasia of the ear cartilage	ORPHA:2065
Acrofacial Dysostosis, Cincinnati Type	Macrotia, Anotia, Microtia	OMIM:616462
Anemia, Sideroblastic, 1	Sideroblastic anemia, Macrocytic anemia, Anemic pallor, Anemia of inadequate production, Hypochro...	OMIM:300751
Beta-Ketothiolase Deficiency	Leukocytosis, Tachypnea, Weight loss, Pallor, Cough, Thrombocytosis	ORPHA:134
Posterior Polymorphous Corneal Dystrophy	Increased corneal curvature, Corneal opacity, Uveal ectropion, Abnormal Descemet membrane morphol...	ORPHA:98973
Mucopolysaccharidosis Type 6	Sinusitis, Splenomegaly, Thick lower lip vermilion, Disproportionate short-trunk short stature, M...	ORPHA:583
Digeorge Syndrome	Sclerocornea, Micrognathia, High, narrow palate, Parathyroid hypoplasia, Hypoplasia of the thymus...	OMIM:188400
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Inguinal hernia, White hair, Fine hair, Lymphopenia, Anemia	ORPHA:935
Chromosome 18P Deletion Syndrome	Macrotia, Posteriorly rotated ears	OMIM:146390
Mixed-Type Autoimmune Hemolytic Anemia	Autoimmune hemolytic anemia, Pallor, Exertional dyspnea	ORPHA:90036
Microphthalmia, Syndromic 1	Dental crowding, High, narrow palate, Orofacial cleft, Microcornea, High palate, Iris coloboma, C...	OMIM:309800
Non-Progressive Cerebellar Ataxia With Intellectual Disability	Short ear, Palpebral edema, Narrow mouth, Thick lower lip vermilion, Mesiodens, Long philtrum, Ab...	ORPHA:314647
Chromosome 15Q11.2 Deletion Syndrome	Asthma, Macrotia	OMIM:615656
Distal Duplication 5Q	Macrotia, Low-set ears	ORPHA:96097
Dyskeratosis Congenita, Autosomal Recessive 3	Pancytopenia, Squamous cell carcinoma of the tongue, Abnormality of skin pigmentation, Nail dystr...	OMIM:613988
Gm1-Gangliosidosis, Type Iii	Short stature, Opacification of the corneal stroma	OMIM:230650
Mietens Syndrome	Severe short stature, Corneal opacity, Cataract, Sclerocornea, Microcornea	ORPHA:2557
Aregenerative Anemia	Pancytopenia, Dyspnea, Erythroid hypoplasia, Reticulocytopenia, Pallor, Neutropenia, Decreased pr...	ORPHA:101096
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities	Posteriorly rotated ears, Sensorineural hearing impairment, Synophrys, Low anterior hairline, Low...	OMIM:619512
Occipital Horn Syndrome	Inguinal hernia, Femoral hernia, Thick hair, Scarring, Hiatus hernia, High, narrow palate, Atypic...	ORPHA:198
Microphthalmia, Isolated 2	Opacification of the corneal stroma	OMIM:610093
Xeroderma Pigmentosum, Complementation Group A	Entropion, Hypermelanotic macule, Keratitis, Sensorineural hearing impairment, Conjunctivitis, De...	OMIM:278700
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Optic disc pallor, Failure to thrive, Small for gestational age, Corneal opacity, Ankle flexion c...	ORPHA:464311
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency	Decreased testicular size, Hypergonadotropic hypogonadism, Dysmenorrhea, Elevated circulating lut...	ORPHA:90796
Cold Agglutinin Disease	Splenomegaly, Hemolytic anemia, Pallor	ORPHA:56425
Fish-Eye Disease	Opacification of the corneal stroma	OMIM:136120
Apc-Related Attenuated Familial Adenomatous Polyposis	Neoplasm of the pancreas, Epidermoid cyst, Pilomatrixoma, Supernumerary tooth, Odontoma, Lipoma	ORPHA:247806
Congenital Hereditary Endothelial Dystrophy Type Ii	Increased corneal thickness, Corneal opacity, Abnormal Descemet membrane morphology, Sensorineura...	ORPHA:293603
Multiple Endocrine Neoplasia Type 2	Reduced subcutaneous adipose tissue, Multiple mucosal neuromas, Paraganglioma of head and neck, T...	ORPHA:653
Xeroderma Pigmentosum, Variant Type	Entropion, Freckles in sun-exposed areas, Keratitis, Growth delay, Conjunctivitis, Dermal atrophy...	OMIM:278750
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type	Macrotia	OMIM:300486
Kcnq2-Related Epileptic Encephalopathy	Apnea, Pallor, Facial erythema	ORPHA:439218
Familial Dysautonomia	Corneal opacity, Abnormal pupil morphology, Corneal erosion, Optic atrophy, Growth delay, Heteroc...	ORPHA:1764
Corneal Dystrophy, Fuchs Endothelial, 3	Corneal stromal edema, Corneal opacity, Corneal guttata	OMIM:613267
Occipital Horn Syndrome	Redundant skin, Hiatus hernia, Growth delay, Coarse hair, High palate, Long philtrum, Pili torti	OMIM:304150
Chondrodysplasia-Difference Of Sex Development Syndrome	Macrotia	ORPHA:1422
Asparagine Synthetase Deficiency	Macrotia, Respiratory insufficiency, Simple ear	OMIM:615574
Hawkinsinuria	Sparse hair, Failure to thrive	OMIM:140350
Fructose-1,6-Bisphosphatase Deficiency	Respiratory distress, Intermittent hyperventilation, Episodic tachypnea, Dyspnea, Apneic episodes...	ORPHA:348
Isolated Cleft Lip	Macrodontia, Bilateral cleft lip, Small for gestational age, Conductive hearing impairment, Velop...	ORPHA:199302
Gaucher Disease	Pancytopenia, Short stature, Corneal opacity, Thrombocytopenia, Splenomegaly, Respiratory insuffi...	ORPHA:355
Ehlers-Danlos Syndrome, Vascular Type	Periodontitis, Ecchymosis, Emphysema, Premature loss of teeth, Keratoconus, Short stature, Repeat...	OMIM:130050
Aplasia Cutis Congenita	Aplasia cutis congenita over the scalp vertex, Skin ulcer, Facial palsy, Congenital localized abs...	ORPHA:1114
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities	Macrotia	OMIM:617864
Autoimmune Hemolytic Anemia, Warm Type	Autoimmune hemolytic anemia, Splenomegaly, Chronic lymphatic leukemia, Pallor, Exertional dyspnea	ORPHA:90033
Argininosuccinic Aciduria	Failure to thrive, Dry hair, Brittle hair, Trichorrhexis nodosa	OMIM:207900
Aicardi Syndrome	Abnormality of retinal pigmentation, Prominence of the premaxilla, Cleft upper lip, Hiatus hernia...	ORPHA:50
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1	Posteriorly rotated ears, Cupped ear, Large fleshy ears, Low-set ears, Overfolded helix	OMIM:614080
Hypophosphatemic Rickets, X-Linked Dominant	Enamel hypomineralization, Short stature	OMIM:307800
Neu-Laxova Syndrome	Abnormal eyelash morphology, Macrotia, Abnormal hair morphology	ORPHA:2671
Dyggve-Melchior-Clausen Disease	Severe short stature, Rhizomelia, Corneal opacity, Respiratory insufficiency due to muscle weakne...	ORPHA:239
Sympathetic Ophthalmia	Papilledema, Alopecia, Cataract, Poliosis, Erythema, Anterior chamber cells, Posterior synechiae ...	ORPHA:79098
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Cataract, Micrognathia, Optic atrophy, Buphthalmos, Everted lower lip vermilion, Pallor, Opacific...	OMIM:253280
Arthrogryposis Multiplex Congenita 5	Prominent antihelix, Restrictive ventilatory defect, Neonatal respiratory distress, Macrotia	OMIM:618947
Microphthalmia, Syndromic 16	Sclerocornea, Ankyloblepharon	OMIM:611038
Retinitis Pigmentosa And Erythrocytic Microcytosis	Optic disc pallor, Anisocytosis, Decreased mean corpuscular volume, Elliptocytosis, Pallor, Poiki...	OMIM:616959
Congenital Disorder Of Glycosylation, Type Iiw	Inguinal hernia, Micrognathia, Microcytic anemia, Thrombocytopenia, Supernumerary tooth, Splenome...	OMIM:619525
Holoprosencephaly	Highly arched eyebrow, External ear malformation, Synophrys, Respiratory insufficiency, Abnormal ...	ORPHA:2162
Xeroderma Pigmentosum, Complementation Group B	Cataract, Short stature, Sensorineural hearing impairment, Optic atrophy, Pigmentary retinopathy,...	OMIM:610651
Anterior Segment Dysgenesis 2	Cataract, Corneal opacity, Sclerocornea, Microcornea, Posterior synechiae of the anterior chamber...	OMIM:610256
Lcat Deficiency	Hemolytic anemia, Corneal opacity	ORPHA:650
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Pallor, Poikilocytosis, Fava bean-indu...	OMIM:300908
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation	Small for gestational age, Short stature, Abnormal myelination	ORPHA:289266
Irida Syndrome	Hyperkeratosis, Pallor	ORPHA:209981
Linear Skin Defects With Multiple Congenital Anomalies 1	Cataract, Short stature, Congenital diaphragmatic hernia, Sclerocornea, Asymmetric, linear skin d...	OMIM:309801
Dysosteosclerosis	Delayed eruption of teeth, Natal tooth, Micrognathia, Absent frontal sinuses, Disproportionate sh...	OMIM:224300
Stiff Skin Syndrome	Aplasia/Hypoplasia of the skin, Lipoatrophy, Short stature, Sensorineural hearing impairment, Sub...	ORPHA:2833
Corneal Dystrophy, Posterior Polymorphous, 1	Polymorphous posterior corneal dystrophy, Iris atrophy, Corneal opacity, Band keratopathy, Uveal ...	OMIM:122000
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Sparse eyebrow, Macrotia, Respiratory insufficiency	OMIM:616300
Adams-Oliver Syndrome 5	Inguinal hernia, Aplasia cutis congenita, Hypoplastic toenails, Hypersplenism, Splenomegaly, Pulm...	OMIM:616028
Refractory Anemia With Excess Blasts	Acute myeloid leukemia, Anemic pallor, Anemia of inadequate production, Leukocytosis, Abnormal me...	ORPHA:86839
Thakker-Donnai Syndrome	Macrotia, Posteriorly rotated ears	ORPHA:1780
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation	Sparse eyebrow, Macrotia, Posteriorly rotated ears, Low-set ears	OMIM:617011
Xeroderma Pigmentosum, Complementation Group C	Entropion, Keratitis, Conjunctivitis, Dermal atrophy, Freckling, Hypopigmentation of the skin, Ec...	OMIM:278720
Robin Sequence With Cleft Mandible And Limb Anomalies	Microretrognathia, Short stature, Micrognathia, Agenesis of mandibular central incisor, Pierre-Ro...	OMIM:268305
Anterior Segment Dysgenesis 5	Rieger anomaly, Sclerocornea, Developmental cataract, Microcornea, Hypoplasia of the iris, Anteri...	OMIM:604229
Pemphigus Erythematosus	Focal dermal aplasia/hypoplasia, Acantholysis, Localized skin lesion, Hypopigmented skin patches,...	ORPHA:79480
Cutis Marmorata Telangiectatica Congenita	Purpura, Aplasia/Hypoplasia of the skin, Micrognathia, Blue nevus, Leukocoria, Orofacial cleft, M...	ORPHA:1556
Gelatinous Drop-Like Corneal Dystrophy	Subepithelial corneal opacities, Central opacification of the cornea, Blepharospasm, Conjunctival...	ORPHA:98957
Childhood Absence Epilepsy	Abnormal social behavior, Pallor, Hyperventilation	ORPHA:64280
Microcephaly 13, Primary, Autosomal Recessive	Macrotia	OMIM:616051
Classical-Like Ehlers-Danlos Syndrome Type 2	Alopecia, Macrotia	ORPHA:536532
Osteogenesis Imperfecta, Type Iv	Otosclerosis, Short stature, Dentinogenesis imperfecta, Hearing impairment	OMIM:166220
Familial Adenomatous Polyposis	Pancreatic adenocarcinoma, Epidermoid cyst, Abnormality of the dentition, Pituitary adenoma, Supe...	ORPHA:733
Fuchs Endothelial Corneal Dystrophy	Abnormal corneal endothelium morphology, Reduced number of corneal endothelial cells, Abnormal De...	ORPHA:98974
Alg9-Cdg	Low-set, posteriorly rotated ears, Asthma, Low posterior hairline, Large fleshy ears, Hypoplastic...	ORPHA:79328
Granular Corneal Dystrophy Type Ii	Subepithelial corneal opacities, Central opacification of the cornea, Recurrent corneal erosions,...	ORPHA:98963
Norrie Disease	Cataract, Corneal opacity, Sensorineural hearing impairment, Optic atrophy, Leukocoria, Hypoplasi...	OMIM:310600
Kabuki Syndrome	Highly arched eyebrow, Sensorineural hearing impairment, Protruding ear, Long eyelashes, Conducti...	ORPHA:2322
Intellectual Developmental Disorder, X-Linked 98	Macrotia	OMIM:300912
Progressive Essential Tremor-Speech Impairment-Facial Dysmorphism-Intellectual Disability-Abnormal Behavior Syndrome	Macrotia, Thick eyebrow	ORPHA:457212
Hypomagnesemia 5, Renal, With Or Without Ocular Involvement	Astigmatism, Amelogenesis imperfecta	OMIM:248190
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome	Hiatus hernia, Hypoplastic philtrum, Cryptorchidism, Nail dysplasia, Sparse hair, Preauricular sk...	OMIM:616682
Alport Syndrome 2, Autosomal Recessive	Anterior lenticonus, Corneal erosion, Cataract, Hearing impairment	OMIM:203780
Enamel-Renal Syndrome	Delayed eruption of teeth, Abnormality of dental color, Abnormal dental enamel morphology, Gingiv...	ORPHA:1031
Congenital Disorder Of Glycosylation, Type Ia	Macrotia	OMIM:212065
Proximal Renal Tubular Acidosis	Cataract, Mild postnatal growth retardation, Short stature, Band keratopathy, Enamel hypominerali...	ORPHA:47159
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Abnormality of retinal pigmentation, Severe short stature, Rhizomelia, Corneal opacity, Ectopia p...	ORPHA:85167
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement	Optic atrophy, Abnormal myelination	ORPHA:352682
Autosomal Dominant Keratitis	Cataract, Keratitis, Abnormal corneal limbus morphology, Microcornea, Hypoplastic iris stroma, Op...	ORPHA:2334
Corneal Dystrophy, Thiel-Behnke Type	Corneal dystrophy, Corneal scarring, Juvenile epithelial corneal dystrophy	OMIM:602082
Meckel Syndrome	Low-set, posteriorly rotated ears, Accessory spleen, Cataract, Pancreatic fibrosis, Aplasia/Hypop...	ORPHA:564
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome	Optic disc pallor, Limb joint contracture, Small for gestational age, Lagophthalmos, Bilateral pt...	ORPHA:404454
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly	Hypoplastic helices, Macrotia, Low-set ears	OMIM:600460
Alport Syndrome 1, X-Linked	Hypoparathyroidism, Sensorineural hearing impairment, Corneal erosion, Developmental cataract, An...	OMIM:301050
Fish-Eye Disease	Splenomegaly, Corneal opacity	ORPHA:79292
Xeroderma Pigmentosum, Complementation Group D	Entropion, Cataract, Keratitis, Sensorineural hearing impairment, Keratoconjunctivitis sicca, Con...	OMIM:278730
Mucolipidosis Iii Alpha/Beta	Mandibular prognathia, Opacification of the corneal stroma, Short stature, Hyperopic astigmatism	OMIM:252600
Mucolipidosis Iii Gamma	Short stature, Opacification of the corneal stroma	OMIM:252605
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Macrotia, Low-set ears	OMIM:277400
Tay-Sachs Disease	Aspiration, Pallor	OMIM:272800
Macular Corneal Dystrophy	Hyperopic astigmatism, Corneal crystals, Punctate opacification of the cornea, Recurrent corneal ...	ORPHA:98969
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome	Macrotia, Bilateral sensorineural hearing impairment	ORPHA:521445
Mucopolysaccharidosis Type 7	Splenomegaly, Umbilical hernia, Inguinal hernia, Corneal opacity	ORPHA:584
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome	Anteverted ears, Sensorineural hearing impairment, Protruding ear, Low-set ears, Macrotia, Hirsutism	ORPHA:459070
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Sclerocornea, Cryptorchidism, Growth delay, Iris coloboma, Hearing impairment	ORPHA:77298
Malignant Atrophic Papulosis	Cataract, Weight loss, Respiratory failure, Dermal atrophy, Pleural effusion, Papule, Ptosis	ORPHA:679
Cone-Rod Dystrophy 8	Abnormality of retinal pigmentation, Pallor	OMIM:605549
Coloboma, Ocular, Autosomal Dominant	Optic nerve aplasia, Corneal opacity, Optic disc coloboma, Growth delay, Peters anomaly	OMIM:120200
Alström Syndrome	Respiratory distress, Abnormality of dental color, Decreased response to growth hormone stimulati...	ORPHA:64
X-Linked Hypophosphatemia	Odontodysplasia, Sensorineural hearing impairment, Disproportionate short stature, Enthesitis, Gr...	ORPHA:89936
Trisomy 10P	Posteriorly rotated ears, Abnormal auditory evoked potentials, Abnormality of the ear, Low-set ea...	ORPHA:171929
Autosomal Recessive Spastic Paraplegia Type 55	Optic atrophy, Onion bulb formation, Optic neuropathy	ORPHA:320375
Osteogenesis Imperfecta, Type Xvii	Short stature, Dentinogenesis imperfecta	OMIM:616507
Keutel Syndrome	Sinusitis, Calcification of the auricular cartilage, Airway obstruction, Recurrent otitis media, ...	OMIM:245150
Amelogenesis Imperfecta, Type Ig	Dagger-shaped pulp calcifications, Gingival fibromatosis, Gingival overgrowth, Delayed eruption o...	OMIM:204690
Okamoto Syndrome	Extension of hair growth on temples to lateral eyebrow, Abnormal helix morphology, Low-set ears, ...	ORPHA:2729
Myelofibrosis	Myeloproliferative disorder, Splenomegaly, Pallor, Purpura	OMIM:254450
Nijmegen Breakage Syndrome	Sinusitis, Recurrent pneumonia, Bronchiectasis, Recurrent otitis media, Macrotia	OMIM:251260
Cutis Laxa, Autosomal Recessive, Type Iid	Pneumothorax, Macrotia, Low-set ears, Protruding ear	OMIM:617403
Galactosialidosis	Conjunctival telangiectasia, Severe short stature, Hepatosplenomegaly, Opacification of the corne...	OMIM:256540
Von Hippel-Lindau Disease	Neoplasm of the pancreas, Papilledema, Pancreatic islet cell adenoma, Pancreatic cysts, Pancreati...	ORPHA:892
Alport Syndrome	Dyspnea, Sensorineural hearing impairment, Posterior subcapsular cataract, Abnormal corneal endot...	ORPHA:63
Aprosencephaly And Cerebellar Dysgenesis	Poorly formed metencephalon, Cerebellar dysplasia	OMIM:601374
Osteogenesis Imperfecta, Type Viii	Disproportionate short-limb short stature, Inguinal hernia, Dentinogenesis imperfecta	OMIM:610915
Elliptocytosis 1	Splenomegaly, Hemolytic anemia, Elliptocytosis, Pallor	OMIM:611804
Xeroderma Pigmentosum-Cockayne Syndrome Complex	Short stature, Cachexia, Optic atrophy, Numerous pigmented freckles, Dermal atrophy, Dry skin, De...	ORPHA:220295
Choreoacanthocytosis	Decreased number of peripheral myelinated nerve fibers, Peripheral axonal neuropathy, Temporomand...	ORPHA:2388
Cornelia De Lange Syndrome	Low-set, posteriorly rotated ears, Curly eyelashes, Highly arched eyebrow, Sensorineural hearing ...	ORPHA:199
Classical Ehlers-Danlos Syndrome	Epicanthus, Abnormality of the temporomandibular joint, Inguinal hernia, Subcutaneous spheroids, ...	ORPHA:287
Bannayan-Riley-Ruvalcaba Syndrome	Macrotia	ORPHA:109
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type	Atresia of the external auditory canal, Opacification of the corneal stroma	OMIM:601356
Senior-Loken Syndrome 8	Pancreatic cysts, Pallor	OMIM:616307
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome	Low-set, posteriorly rotated ears, Broad eyebrow, Macrotia, Sparse eyebrow	ORPHA:457359
Cohen-Gibson Syndrome	Thin nail, Long ear, Small nail, Low-set ears, Macrotia	OMIM:617561
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome	Opacification of the corneal stroma, Small for gestational age, Short stature, Abnormal T cell mo...	OMIM:215250
Anterior Segment Dysgenesis 6	Corneal opacity, Abnormal Descemet membrane morphology, Developmental glaucoma, Posterior synechi...	OMIM:617315
Congenital Primary Aphakia	Congenital aphakia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Sclerocornea	ORPHA:83461
Microphthalmia, Syndromic 3	Optic nerve aplasia, Cataract, Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Opti...	OMIM:206900
Peters Anomaly	Central opacification of the cornea, Developmental glaucoma, Anterior synechiae of the anterior c...	ORPHA:708
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Cataract, Corneal opacity, Leukocoria, Microcornea, Buphthalmos, Shallow anterior chamber, Poster...	OMIM:221900
Baller-Gerold Syndrome	Micrognathia, High palate, Conductive hearing impairment, Bifid uvula, Short stature, Astigmatism...	OMIM:218600
Wilson Disease	Hypoparathyroidism, Hemolytic anemia, Thrombocytopenia, Splenomegaly, Anemia, Kayser-Fleischer ri...	OMIM:277900
Subacute Cutaneous Lupus Erythematosus	Psoriasiform lesion, Cheilitis, Hyperkeratosis, Annular cutaneous lesion, Dermal atrophy	ORPHA:163525
Xeroderma Pigmentosum, Complementation Group E	Entropion, Keratitis, Conjunctivitis, Dermal atrophy, Ectropion	OMIM:278740
Alpha-N-Acetylgalactosaminidase Deficiency Type 2	Telangiectasia of the oral mucosa, Subcutaneous nodule, Lip telangiectasia, Hyperkeratosis, Thick...	ORPHA:79280
Hereditary Cryohydrocytosis With Reduced Stomatin	Macrotia	ORPHA:168577
Persistent Hyperplastic Primary Vitreous	Cataract, Corneal opacity, Leukocoria, Developmental cataract, Microcornea, Buphthalmos, Shallow ...	ORPHA:91495
Limb Body Wall Complex	Ventral hernia, Corneal opacity, Congenital diaphragmatic hernia, Cleft lip, Cleft palate, Lens s...	ORPHA:2369
Pelizaeus-Merzbacher Disease, Connatal Form	Short stature, Respiratory failure, Abnormal myelination, Cerebral hypomyelination, Failure to th...	ORPHA:280210
Lipodystrophy, Congenital Generalized, Type 1	Macrotia, Hirsutism	OMIM:608594
Phace Syndrome	Cataract, Optic nerve hypoplasia, Sclerocornea, Lens coloboma, Abnormality of the orbital region,...	ORPHA:42775
Thauvin-Robinet-Faivre Syndrome	Sensorineural hearing impairment, Macrotia, Protruding ear	OMIM:617107
Acromegaly	Abnormal fingernail morphology, Synophrys, Abnormal toenail morphology, Macrotia, Generalized hir...	ORPHA:963
Somatomammotropinoma	Abnormal fingernail morphology, Synophrys, Abnormal toenail morphology, Macrotia, Generalized hir...	ORPHA:314769
Infection-Related Hemolytic Uremic Syndrome	Hemolytic anemia, Pneumonia, Dyspnea, Leukocytosis, Pleural empyema, Pallor, Thrombocytopenia	ORPHA:544482
Dermochondrocorneal Dystrophy	Subepithelial corneal opacities, Corneal dystrophy, Anterior cortical cataract, Skin nodule, Ging...	OMIM:221800
Monosomy 22Q13.3	Hypoplastic toenails, Long eyelashes, Macrotia, Thick eyebrow, Hearing impairment	ORPHA:48652
Apolipoprotein A-I Deficiency	Xanthelasma, Xanthomatosis, Opacification of the corneal stroma	ORPHA:425
Pelvis-Shoulder Dysplasia	Optic disc coloboma, Short stature, Iris coloboma, Opacification of the corneal stroma	OMIM:169550
Nodular Non-Suppurative Panniculitis	Aplasia/Hypoplasia of the skin, Splenomegaly, Subcutaneous nodule, Erythema, Weight loss, Pannicu...	ORPHA:33577
Lipodystrophy, Congenital Generalized, Type 2	Macrotia, Hirsutism	OMIM:269700
Lymphangioleiomyomatosis	Macule, Retinal hamartoma, Dyspnea, Emphysema, Optic atrophy, Pneumothorax, Abnormality of skin p...	ORPHA:538
Holoprosencephaly 14	Macrotia, Low-set ears	OMIM:619895
Viss Syndrome	Exostosis of the external auditory canal, Sparse scalp hair, Alopecia, Posteriorly rotated ears, ...	OMIM:619472
Amyloidosis Of Gingiva And Conjunctiva With Impaired Intellectual Development	Opacification of the corneal stroma	OMIM:204850
Osteopetrosis With Renal Tubular Acidosis	Conductive hearing impairment, Pulmonary arterial hypertension, Macrotia	ORPHA:2785
Spondyloepiphyseal Dysplasia Tarda, X-Linked	Postnatal growth retardation, Disproportionate short-trunk short stature, Opacification of the co...	OMIM:313400
Holoprosencephaly 7	Synophrys, Macrotia	OMIM:610828
Alzahrani-Kuwahara Syndrome	Macrotia, Posteriorly rotated ears, Low-set ears, Hearing impairment	OMIM:619268
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome	Sensorineural hearing impairment, Macrotia, Protruding ear	ORPHA:500095
Alacrima, Congenital, Autosomal Recessive	Punctate corneal epithelial erosions	OMIM:601549
Corneal Endothelial Dystrophy	Abnormal Descemet membrane morphology, Increased corneal thickness, Corneal dystrophy, Opacificat...	OMIM:217700
X-Linked Intellectual Disability, Armfield Type	Macrotia, Long ear	ORPHA:85276
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies	Hemolytic anemia, Corneal opacity, Polycoria, Developmental cataract, Microcornea, Hypoplasia of ...	OMIM:175780
Alagille Syndrome 1	Macrotia, Low-set ears	OMIM:118450
Alacrima, Congenital, Autosomal Dominant	Lacrimal gland hypoplasia, Punctate corneal epithelial erosions, Lacrimal punctal atresia	OMIM:103420
Townes-Brocks Syndrome 1	Overfolding of the superior helices, Sensorineural hearing impairment, Microtia, Stahl ear, Satyr...	OMIM:107480
Osteogenesis Imperfecta, Type Vii	Rhizomelia, Short stature, Dentinogenesis imperfecta, Long philtrum	OMIM:610682
Generalized Juvenile Polyposis/Juvenile Polyposis Coli	Growth delay, Anemic pallor, Anemia	ORPHA:329971
Neu-Laxova Syndrome 1	Absent eyelashes, Macrotia, Low-set ears	OMIM:256520
Goodpasture Syndrome	Crackles, Increased DLCO, Tachypnea, Weight loss, Restrictive ventilatory defect, Pallor, Cough, ...	OMIM:233450
Bartter Syndrome, Type 2, Antenatal	Macrotia	OMIM:241200
Anterior Segment Dysgenesis 1	Microcornea, Opacification of the corneal stroma, Peters anomaly, Posterior polar cataract, Ocula...	OMIM:107250
X-Linked Intellectual Disability With Isolated Growth Hormone Deficiency	Ectopic posterior pituitary, Short stature, Decreased response to growth hormone stimulation test...	ORPHA:67045
Gaucher Disease, Type Iiic	Splenomegaly, Pancytopenia, Opacification of the corneal stroma	OMIM:231005
Pontocerebellar Hypoplasia Type 7	Macrotia	ORPHA:284339
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria	Respiratory distress, Macrotia, Recurrent pneumonia	ORPHA:99646
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome	Splenomegaly, Polycythemia, Abnormal myelination	ORPHA:309854
Congenital Total Pulmonary Venous Return Anomaly	Respiratory distress, Respiratory failure requiring assisted ventilation, Paroxysmal dyspnea, Apn...	ORPHA:99125
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13	Optic nerve dysplasia, Decreased testicular size, Opacification of the corneal stroma	OMIM:615287
Pmm2-Cdg	Respiratory distress, Macrotia, Abnormal pinna morphology, Aspiration pneumonia	ORPHA:79318

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 Edaradd

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 Edaradd.

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

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MGI Allele	Allele Type	Produced
Edaradd^em1(IMPC)Bay	Exon Deletion	Mice
Edaradd^{tm1a(EUCOMM)Hmgu}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells

Sequence

Guides

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

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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Gene: Edaradd MGI:1931001

Gene Summary

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Human diseases caused by Edaradd mutations

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IMPC related publications

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