Gene Summary

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

IMPC Data Collections

IMPC Phenotype Summary

Not Significant
Not tested


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 Edaraddem1(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 right eye

17 Images

Eye Morphology

VIP of left fundus

17 Images

Eye Morphology

VIP of right fundus

17 Images

Eye Morphology

VIP of left eye

17 Images

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.

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

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

Disease Similarity of
Matching phenotypes Source
Pili Gemini
Hair shafts flattened at irregular intervals and twisted through 180 degrees about their axes, Ab... 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 1
Sparse pubic hair, Sparse eyebrow, Sparse body hair, Sparse eyelashes, Sparse axillary hair, Spar... OMIM:605389
Alopecia-Intellectual Disability Syndrome 2
Alopecia universalis OMIM:610422
Alopecia-Intellectual Disability Syndrome 3
Alopecia universalis OMIM:613930
Alopecia Areata 2
Alopecia universalis, Patchy alopecia, Alopecia of scalp, Alopecia totalis OMIM:610753
Alopecia, Familial Focal
Patchy alopecia OMIM:104110
Alopecia, Androgenetic, 1
Alopecia OMIM:109200
Alopecia-Intellectual Disability Syndrome 1
Alopecia universalis, Alopecia OMIM:203650
Hypotrichosis Simplex
Alopecia, Sparse eyebrow, Sparse body hair, Sparse eyelashes, Sparse hair, Sparse scalp 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
Alopecia universalis, Aplasia/Hypoplasia of the eyebrow, Sparse or absent eyelashes, Absent axill... OMIM:615059
Intermediate Generalized Junctional Epidermolysis Bullosa
Palmoplantar keratoderma, Sparse body hair, Atrophic scars, Milia, Nail dystrophy, Oral mucosal b... ORPHA:79402
Hypotrichosis 4
Alopecia, Sparse eyebrow, Sparse body hair, Sparse eyelashes, Uncombable hair, Sparse scalp hair OMIM:146550
Hypotrichosis 10
Sparse eyebrow, Sparse body hair, Sparse eyelashes, Abnormality of the nail, Sparse scalp hair OMIM:614238
Toenail dysplasia, Tooth agenesis, Sparse body hair, Dry skin, Melanocytic nevus, Fingernail dysp... ORPHA:1660
Null Syndrome
Optic atrophy, CNS hypomyelination, Difficulty walking, Inability to walk, Peripheral demyelinati... ORPHA:280234
Alopecia Universalis Congenita
Alopecia universalis, Absent eyelashes, Absent eyebrow, Absent pubic hair, Absent axillary hair OMIM:203655
Spinocerebellar Ataxia Type 43
Cerebellar vermis atrophy, Limb ataxia, Gait ataxia, Peripheral axonal neuropathy, Decreased numb... ORPHA:497764
Atrichia With Papular Lesions
Sparse hair OMIM:209500
Odonto-Onycho Dysplasia-Alopecia Syndrome
Tooth malposition, Sparse eyebrow, Alopecia, Palmoplantar keratoderma, Tooth agenesis, Sparse bod... ORPHA:2722
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 4
Cerebral cortical atrophy, Cerebellar atrophy, Inability to walk, Corpus callosum atrophy, Cerebe... OMIM:615268
Spinocerebellar Ataxia 41
Cerebellar atrophy, Cerebellar vermis atrophy, Gait ataxia, Ataxia, Unsteady gait OMIM:616410
Alopecia Areata 1
Alopecia universalis, Alopecia totalis, Patchy alopecia, Trachyonychia, Nail pits OMIM:104000
Intellectual Developmental Syndrome With Alopecia, Contractures, And Dwarfism
Severe short stature, Alopecia, Carious teeth, Generalized hypoplasia of dental enamel, Large fle... OMIM:203550
Trichodysplasia-Amelogenesis Imperfecta Syndrome
Amelogenesis imperfecta, Alopecia of scalp, Trichodysplasia ORPHA:79129
Anonychia-Microcephaly Syndrome
Abnormality of the dentition, Aplastic/hypoplastic toenail, Carious teeth, Anonychia ORPHA:1094
Paternal 20Q13.2Q13.3 Microdeletion Syndrome
Hypopigmentation of the skin, Failure to thrive, Intrauterine growth retardation, Micrognathia, S... ORPHA:261304
Ichthyosis-Hypotrichosis Syndrome
Sparse hair ORPHA:91132
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant
Trichiasis, Sparse eyebrow, Keratitis, Oral leukoplakia, Elbow flexion contracture, Furrowed tong... OMIM:148210
Rothmund-Thomson Syndrome, Type 1
Conical tooth, Male hypogonadism, Recurrent otitis media, Nail dystrophy, Juvenile cataract, Abse... OMIM:618625
Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy
Carious teeth, Keratitis, Milia, Nail dystrophy, Increased connective tissue, Punctate keratitis,... OMIM:226670
Rapp-Hodgkin Syndrome
Carious teeth, Velopharyngeal insufficiency, Small nail, Supernumerary nipple, Hearing impairment... OMIM:129400
19Q13.11 Microdeletion Syndrome
Hearing impairment, Supernumerary nipple, Dry skin, Cryptorchidism, Cachexia, Sparse hair, Catara... ORPHA:217346
Ectodermal Dysplasia 6, Hair/Nail Type
Alopecia, Sparse hair, Thin toenail, Dystrophic toenail OMIM:614928
Hypertrichosis, Congenital Generalized, 2
Hirsutism, Congenital, generalized hypertrichosis OMIM:307150
Woolly Hair, Autosomal Recessive 3
Fine hair, Trichorrhexis nodosa, Sparse eyelashes, Curly hair, Sparse hair, Sparse scalp hair OMIM:616760
Ramos-Arroyo Syndrome
Severe short stature, High anterior hairline, Carious teeth, Keratitis, Smooth tongue, Long philt... ORPHA:1051
Intellectual Developmental Disorder, X-Linked 97
Macrotia, Synophrys OMIM:300803
Autosomal Dominant Hypohidrotic Ectodermal Dysplasia
Abnormality of the dentition, Sparse body hair, Abnormal fingernail morphology, Abnormal dental m... ORPHA:1810
Perifolliculitis Capitis Abscedens Et Suffodiens, Familial
Alopecia, Alopecia of scalp OMIM:260910
Congenital Smooth Muscle Hamartoma, With Or Without Hemihypertrophy
Hypertrichosis OMIM:620470
Congenital Heart Defects And Ectodermal Dysplasia
High anterior hairline, Widely spaced teeth, Dry skin, Premature loss of primary teeth, Fragile n... OMIM:617364
Spinocerebellar Ataxia Type 5
Gait disturbance, Cerebellar atrophy ORPHA:98766
Agel Amyloidosis
Cataract, Tongue atrophy, Diffuse skin atrophy, Hearing impairment, Bilateral ptosis, Dry skin, B... ORPHA:85448
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant
Cataract, Sparse eyebrow, Carious teeth, Keratitis, Alopecia, Palmoplantar keratoderma, Nail dyst... OMIM:612843
Neurodegeneration, Childhood-Onset, With Brain Atrophy
Cerebral cortical atrophy, Cerebellar atrophy, Cerebral atrophy, Neurodegeneration, Inability to ... OMIM:617672
Regional Odontodysplasia
Carious teeth, Multiple unerupted teeth, Tooth abscess, Abnormality of dental color, Short dental... ORPHA:83450
Cerebral Palsy, Ataxic, Autosomal Recessive
Broad-based gait, Cerebellar atrophy, Dysdiadochokinesis OMIM:605388
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia
Alopecia, Toenail dysplasia, Ectopia lentis, Delayed eruption of teeth, Hearing impairment, Tooth... ORPHA:2325
Leukomelanoderma, Infantilism, Impaired Intellectual Development, Hypodontia, Hypotrichosis
Hypodontia, Sparse hair, Growth delay OMIM:246500
Dry skin, Hypodontia, Trichodysplasia, Nail dysplasia, Thin skin OMIM:125640
Spinocerebellar Ataxia 45
Gait ataxia, Limb ataxia, Cerebellar atrophy OMIM:617769
Pseudoprogeria Syndrome
Alopecia, Sparse eyebrow, Failure to thrive, Decreased body weight, Absent eyelashes, Absent eyeb... ORPHA:2985
Graham Little-Piccardi-Lassueur Syndrome
Alopecia, Sparse axillary hair, Sparse pubic hair, Sparse scalp hair ORPHA:505
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome
Atypical scarring of skin, Sparse eyebrow, Growth delay, Testicular torsion, Atrophic scars, Abno... ORPHA:75496
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Cerebellar atrophy, Cerebral atrophy, Decreased number of peripheral myelinated nerve fibers, Per... OMIM:607250
Ectodermal Dysplasia-Syndactyly Syndrome 1
Alopecia, Conical tooth, Coarse hair, Small nail, Widely spaced teeth, Hypoplastic toenails, Spar... OMIM:613573
Filippi Syndrome
Optic atrophy, Frontal hirsutism, Hypertrichosis, Serrated incisors, Abnormal dental morphology, ... OMIM:272440
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
Abnormality of the dentition, Alopecia universalis, Periodontitis, Hearing impairment, Sparse bod... ORPHA:1008
Irregular hyperpigmentation, Skin ulcer, Fine hair, Micrognathia, Excessive wrinkled skin, Aplasi... ORPHA:2500
Sjogren-Larsson Syndrome
Abnormal hair morphology, Astigmatism, Enamel hypoplasia, CNS demyelination, Opacification of the... OMIM:270200
Epidermolysis Bullosa, Junctional 1A, Intermediate
Carious teeth, Camptodactyly of finger, Nail dystrophy, Oral mucosal blisters, Hypodontia, Patchy... OMIM:226650
Goldberg-Shprintzen Syndrome
Low-set ears, Highly arched eyebrow, Hypoplasia of the maxilla, Megalocornea, Downslanted palpebr... OMIM:609460
Charcot-Marie-Tooth Disease, Demyelinating, Type 4F
Broad-based gait, Basal lamina onion bulb formation, Difficulty walking, Peripheral demyelination... OMIM:614895
Rubinstein-Taybi Syndrome 2
Narrow palate, Highly arched eyebrow, Carious teeth, Dental malocclusion, Retrognathia, Downslant... OMIM:613684
Erythrokeratodermia Variabilis
Cataract, Alopecia, Erythema, Irregular hyperpigmentation, Hearing impairment, Abnormal hair morp... ORPHA:317
Charcot-Marie-Tooth Disease, Dominant Intermediate A
Peripheral demyelination, Axonal degeneration/regeneration, Peripheral axonal neuropathy, Steppag... OMIM:620378
Neurodevelopmental Disorder With Cerebellar Atrophy And Motor Dysfunction
Inability to walk, Cerebellar atrophy, Ataxia OMIM:619333
Spinocerebellar Ataxia, Autosomal Recessive 24
Spastic gait, Gait ataxia, Limb ataxia, Cerebellar atrophy OMIM:617133
Otoonychoperoneal Syndrome
Low-set ears, Abnormality of the ear, Prominent superior crus of antihelix, Posteriorly rotated e... OMIM:259780
Hypohidrotic Ectodermal Dysplasia
Abnormality of the dentition, Hypoplasia of the maxilla, Generalized hypopigmentation of hair, Ir... ORPHA:238468
Charcot-Marie-Tooth Disease, Axonal, Type 2Gg
Difficulty walking, Axonal degeneration/regeneration, Steppage gait, Segmental peripheral demyeli... OMIM:606483
Peroxisome Biogenesis Disorder 8B
Optic atrophy, Cerebellar atrophy, Tip-toe gait, Leukodystrophy, Cerebellar vermis atrophy, Perip... OMIM:614877
Bartsocas-Papas Syndrome 1
Low-set ears, Small nail, Alopecia totalis, Dry skin, Micrognathia, Skin tags, Absent eyelashes, ... OMIM:263650
Gómez-López-Hernández Syndrome
Low-set ears, Toenail dysplasia, Telecanthus, Alopecia of scalp, Corneal opacity, Thin vermilion ... ORPHA:1532
Cervical Hypertrichosis With Underlying Kyphoscoliosis
Sacral hypertrichosis, Thoracic hypertrichosis, Lumbar hypertrichosis, Anterior cervical hypertri... OMIM:117850
Junctional Epidermolysis Bullosa Inversa
Localized skin lesion, Carious teeth, Atrophic scars, Milia, Nail dystrophy, Oral mucosal blister... ORPHA:79405
Bone Marrow Failure Syndrome 3
Aplastic anemia, Small nail, Hearing impairment, Persistence of hemoglobin F, Pancytopenia, Micro... OMIM:617052
Ectodermal Dysplasia, Trichoodontoonychial Type
Sparse body hair, Abnormal dental morphology, Melanocytic nevus, Abnormal toenail morphology, Hyp... ORPHA:1818
Charcot-Marie-Tooth Disease, Demyelinating, Type 1I
Cerebellar atrophy, Chiari type I malformation, Delayed CNS myelination, Demyelinating peripheral... OMIM:619742
Alopecia-Intellectual Disability-Hypergonadotropic Hypogonadism Syndrome
Alopecia totalis ORPHA:1014
Trichodentoosseous Syndrome
Widely spaced teeth, Abnormal hair morphology, Microdontia, Taurodontia, Fragile nails OMIM:190320
Spinocerebellar Ataxia Type 25
Diffuse cerebellar atrophy, Gait ataxia, Abnormal cerebellar cortex morphology, Decreased number ... ORPHA:101111
Recon Progeroid Syndrome
Dental crowding, Growth delay, Dry skin, Hyperconvex thumb nails, Prominence of the premaxilla, A... OMIM:620370
Localized Junctional Epidermolysis Bullosa
Dental enamel pits, Atypical scarring of skin, Sparse pubic hair, Dystrophic toenail, Milia, Atro... ORPHA:251393
Ectodermal Dysplasia-Syndactyly Syndrome 2
Palmoplantar keratoderma, Thin upper lip vermilion, Follicular hyperkeratosis, Enamel hypoplasia,... OMIM:613576
Kondoh Syndrome
Interphalangeal joint contracture of finger, Long philtrum, Intrauterine growth retardation, Thic... OMIM:606242
Corneal perforation, Alopecia, Abnormal facial skeleton morphology, Testicular mass, Enlarged per... ORPHA:548
Braddock-Carey Syndrome 1
Growth delay, Downslanted palpebral fissures, Macrotia, Telecanthus, Curly hair, Enamel hypoplasi... OMIM:619980
Uncombable Hair Syndrome
Coarse hair, White hair, Abnormal hair morphology, Patchy alopecia, Trichodysplasia, Woolly hair ORPHA:1410
Ichthyosis, Congenital, Autosomal Recessive 11
Sparse eyebrow, Abnormality of the nail, Sparse body hair, Curly eyelashes, Brittle hair, Curly h... OMIM:602400
Dentin Dysplasia, Type I
Periapical bone loss, Oligodontia, Taurodontia, Microdontia, Enamel hypoplasia, Pulp obliteration... OMIM:125400
Blepharophimosis-Impaired Intellectual Development Syndrome
Low-set ears, Cryptorchidism, Overfriendliness, Sparse eyelashes, Epicanthus, Blepharophimosis, N... OMIM:619293
Macdermot-Winter Syndrome
Highly arched eyebrow, Frontal upsweep of hair, Low anterior hairline, Posteriorly rotated ears, ... OMIM:247990
Anonychia With Flexural Pigmentation
Carious teeth, Axillary and groin hyperpigmentation and hypopigmentation, Abnormal hair morpholog... ORPHA:69125
Deaf Blind Hypopigmentation Syndrome, Yemenite Type
Iris hypopigmentation, High, narrow palate, Microcornea, Delayed eruption of teeth, Hypopigmented... ORPHA:3214
Xeroderma Pigmentosum
Craniofacial hyperostosis, Erythema, Hypopigmented skin patches, Hearing impairment, Dry skin, De... ORPHA:910
Spinocerebellar Ataxia 30
Cerebellar atrophy, Ataxia OMIM:613371
Insensitivity To Pain, Congenital, With Anhidrosis
Keratitis, Corneal scarring, Nail dystrophy, Acral ulceration, Recurrent corneal erosions, Nail d... OMIM:256800
Late-Onset Junctional Epidermolysis Bullosa
Localized skin lesion, Carious teeth, Nail dystrophy, Oral mucosal blisters, Anonychia, Enamel hy... ORPHA:79406
Spinocerebellar Ataxia 31
Gait ataxia, Limb ataxia, Cerebellar atrophy, Ataxia OMIM:117210
Oculodentodigital Dysplasia, Autosomal Recessive
Low-set ears, Micrognathia, Narrow mouth, Sparse eyelashes, Epicanthus, Sparse hair, Cataract, Mi... OMIM:257850
Focal Facial Dermal Dysplasia Type I
Sparse lateral eyebrow, Downturned corners of mouth, Spotty hyperpigmentation, Thick upper lip ve... ORPHA:79133
Charcot-Marie-Tooth Disease, Dominant Intermediate B
Axonal degeneration, Decreased number of peripheral myelinated nerve fibers, Peripheral axonal de... OMIM:606482
Hidrotic Ectodermal Dysplasia, Christianson-Fourie Type
Sparse pubic hair, Abnormal hair morphology, Onychogryposis of toenails, Nail dystrophy, Sparse e... ORPHA:1808
Prolidase Deficiency
Erythema, Carious teeth, Palmoplantar keratoderma, Hypoplasia of the zygomatic bone, Skin ulcer, ... ORPHA:742
Cranioectodermal Dysplasia
Abnormality of the dentition, Rhizomelia, Abnormal dental enamel morphology, Abnormal fingernail ... ORPHA:1515
Hepatoerythropoietic Porphyria
Seborrhoeic blepharitis, Facial hypertrichosis, Hypopigmentation of the skin, Skin erosion, Eryth... ORPHA:95159
Bazex-Dupré-Christol Syndrome
Sparse eyebrow, Coarse hair, Hypoplasia of the ear cartilage, Macrotia, Trichorrhexis nodosa, Spa... ORPHA:113
Winchester Syndrome
Hirsutism, Subcutaneous nodule, Gingival overgrowth, Corneal opacity OMIM:277950
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Cerebellar dysplasia OMIM:615041
Trichothiodystrophy 4, Nonphotosensitive
Optic atrophy, Microcornea, Retrognathia, Small nail, Trichorrhexis nodosa, Decreased fertility, ... OMIM:234050
Amelogenesis Imperfecta
Yellow-brown discoloration of the teeth, Widely spaced teeth, Enamel hypomineralization, Anterior... ORPHA:88661
Naegeli-Franceschetti-Jadassohn Syndrome
Carious teeth, Dry skin, Flexion contracture of finger, Hyperpigmentation in sun-exposed areas, S... ORPHA:69087
Epidermolysis Bullosa, Junctional 4, Intermediate
Dental enamel pits, Carious teeth, Nail dystrophy, Dystrophic fingernails, Scarring alopecia of s... OMIM:619787
Mitochondrial Dna Depletion Syndrome 16B (Neuroophthalmic Type)
Optic atrophy, Cerebral cortical atrophy, Cerebellar atrophy, Difficulty walking, Peripheral axon... OMIM:619425
Charcot-Marie-Tooth Disease, Type 4A
Hypertrophic nerve changes, Basal lamina onion bulb formation, CNS hypomyelination, Axonal degene... OMIM:214400
Pili Torti-Developmental Delay-Neurological Abnormalities Syndrome
Sparse or absent eyelashes, Pili torti, Aplasia/Hypoplasia of the eyebrow, Abnormality of hair te... ORPHA:2891
Zimmermann-Laband Syndrome
Facial hypertrichosis, Large fleshy ears, Micrognathia, Sensorineural hearing impairment, Thicken... ORPHA:3473
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome
Severe short stature, Onychogryposis of fingernail, Alopecia, Ridged fingernail, Palmoplantar ker... ORPHA:2251
Oliver-Mcfarlane Syndrome
Severe short stature, Alopecia, Pigmentary retinopathy, Central heterochromia, Decreased response... OMIM:275400
Ablepharon Macrostomia Syndrome
Hearing impairment, Atresia of the external auditory canal, Dry skin, Excessive wrinkled skin, Ab... ORPHA:920
Hypotrichosis, Congenital, With Juvenile Macular Dystrophy
Reduced terminal:vellus ratio, Pili torti, Sparse hair, Abnormality of the nail, Sparse scalp hair OMIM:601553
Cockayne Syndrome
Lentiglobus, Carious teeth, Dry hair, Postnatal growth retardation, Reduced subcutaneous adipose ... ORPHA:191
Deafness-Enamel Hypoplasia-Nail Defects Syndrome
Abnormality of the dentition, High anterior hairline, Abnormality of nail color, Hearing impairme... ORPHA:3220
Acrofacial Dysostosis, Palagonia Type
High, narrow palate, Sparse hair, Low-set ears, Unilateral cleft lip, Sparse lateral eyebrow, Thi... ORPHA:1787
Cockayne Syndrome Type 3
Lentiglobus, Cataract, Microcornea, Carious teeth, Dry hair, Conductive hearing impairment, Prema... ORPHA:90324
Trichodysplasia-Xeroderma Syndrome
Alopecia, Coarse hair, Sparse eyebrow, Sparse body hair, Trichorrhexis nodosa, Trichodysplasia, P... ORPHA:3361
De Barsy Syndrome
Low-set ears, Postnatal growth retardation, Narrow mouth, Cryptorchidism, Excessive wrinkled skin... ORPHA:2962
Epidermolysis Bullosa Dystrophica, Autosomal Recessive
Cataract, Alopecia, Atrophic scars, Corneal scarring, Milia, Narrow mouth, Nail dystrophy, Oral m... OMIM:226600
Kaufman Oculocerebrofacial Syndrome
Low-set ears, Carious teeth, Micrognathia, Narrow mouth, Epicanthus, Blepharophimosis, Optic disc... OMIM:244450
Congenital Erythropoietic Porphyria
Facial hypertrichosis, Increased connective tissue, Keratoconjunctivitis, Poikilocytosis, Corneal... ORPHA:79277
Pili Torti
Abnormality of the dentition, Alopecia, Hearing impairment, Abnormal dental enamel morphology, Ab... ORPHA:2889
Epidermolysis Bullosa, Junctional 1B, Severe
Carious teeth, Failure to thrive, Atrophic scars, Milia, Nail dystrophy, Nail dysplasia, Enamel h... OMIM:226700
Hidrotic Ectodermal Dysplasia
Small nail, Hearing impairment, Sparse eyelashes, Absent eyebrow, Absent axillary hair, Sparse ha... ORPHA:189
Cutis Laxa, Autosomal Recessive, Type Iiib
Cataract, Fine hair, Prominent ear helix, Elbow flexion contracture, Intrauterine growth retardat... OMIM:614438
Cutis Laxa, Autosomal Recessive, Type Iiia
Low-set ears, Cataract, Failure to thrive, Umbilical hernia, Intrauterine growth retardation, Nar... OMIM:219150
Hypohidrosis-Enamel Hypoplasia-Palmoplantar Keratoderma-Intellectual Disability Syndrome
Carious teeth, Sparse lateral eyebrow, Palmoplantar hyperkeratosis, Enamel hypoplasia, Thick verm... ORPHA:363523
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome
Low-set ears, Hypoplasia of the zygomatic bone, Retrognathia, Downslanted palpebral fissures, Abn... ORPHA:1812
17Q11.2 Microduplication Syndrome
Sparse eyebrow, Abnormal dental enamel morphology, Malar flattening, Sparse eyelashes, Enamel hyp... ORPHA:139474
Marie Unna Hereditary Hypotrichosis
Alopecia, Coarse hair, Sparse or absent eyelashes, Aplasia/Hypoplasia of the eyebrow, Sparse scal... ORPHA:444
Adult Syndrome
Absent nipple, Fair hair, Breast hypoplasia, Dry skin, Dermal atrophy, Alopecia of scalp, Oligodo... OMIM:103285
Tooth Agenesis, Selective, 8
Sparse eyebrow, Selective tooth agenesis, Dry skin, Microdontia, Sparse hair OMIM:617073
Amelogenesis Imperfecta, Hypomaturation Type, Iia3
Hypomature dental enamel, Amelogenesis imperfecta, Enamel hypomineralization OMIM:613211
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome
Micrognathia, Narrow mouth, Decreased body weight, Sensorineural hearing impairment, Epicanthus, ... ORPHA:391408
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 10
Sensory axonal neuropathy, Hypoplasia of the pons, Motor axonal neuropathy, Decreased number of p... OMIM:620542
Hutchinson-Gilford Progeria Syndrome
Prominent ear helix, Ankyloglossia, Alopecia totalis, Micrognathia, Short lingual frenulum, Narro... ORPHA:740
Syndromic X-Linked Intellectual Disability 7
Tooth malposition, Sparse body hair, Hypogonadism, Abnormal dental morphology, Obesity, Cryptorch... ORPHA:85274
Hypodontia-Dysplasia Of Nails Syndrome
Abnormality of the dentition, Conical tooth, Ridged fingernail, Thin toenail, Delayed eruption of... ORPHA:2228
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Erythema, Aplasia cutis congenita on trunk or limbs, Onychogryposis, Alopecia, Hypopigmentation o... ORPHA:79396
Intellectual Developmental Disorder, Autosomal Dominant 21
Low-set ears, Long philtrum, Sacral dimple, Long eyelashes, Narrow mouth, Cryptorchidism, Epicant... OMIM:615502
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
Low-set ears, Cryptorchidism, Low posterior hairline, Epicanthus, Curly hair, High palate, Sparse... OMIM:617506
Premature Aging Syndrome, Penttinen Type
Dermal atrophy, Micrognathia, Sensorineural hearing impairment, Flexion contracture of finger, Sp... OMIM:601812
Short Syndrome
Megalocornea, Excessive wrinkled skin, Sensorineural hearing impairment, Posterior embryotoxon, W... ORPHA:3163
Ramon Syndrome
Conductive hearing impairment, Delayed eruption of teeth, Failure to thrive, Abnormal dental enam... ORPHA:3019
Costello Syndrome
Keratoconus, Abnormal hair morphology, Cryptorchidism, Epicanthus, Hyperkeratosis, Low-set, poste... ORPHA:3071
Cataract, Abnormality of the dentition, Fine hair, Abnormal eyebrow morphology, Patchy alopecia, ... ORPHA:573
Liang-Wang Syndrome
Macrodontia of permanent maxillary central incisor, Downturned corners of mouth, Diastema, Megalo... OMIM:618729
11P15.4 Microduplication Syndrome
Highly arched eyebrow, Posteriorly rotated ears, Macrotia, Synophrys ORPHA:300305
Charcot-Marie-Tooth Disease, Recessive Intermediate D
Steppage gait, Onion bulb formation OMIM:616039
Charcot-Marie-Tooth Disease, Axonal, Type 2A1
Axonal degeneration/regeneration, Decreased number of peripheral myelinated nerve fibers, Periphe... OMIM:118210
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome
Alopecia, Hyperpigmented papule, Preauricular pit, Hypoplasia of teeth, Epicanthus, Short stature... ORPHA:88630
Oculocerebral Hypopigmentation Syndrome, Cross Type
Iris hypopigmentation, Cataract, Growth delay, Ocular albinism, Ectropion, Narrow mouth, Inguinal... ORPHA:2719
Charcot-Marie-Tooth Disease, Demyelinating, Type 1B
Hypertrophic nerve changes, Peripheral demyelination, Decreased number of peripheral myelinated n... OMIM:118200
Carious teeth, Dry skin, Cryptorchidism, Epicanthus, Neutropenia, Brittle hair, Split nail, Bilat... ORPHA:33364
Clouston Syndrome
Cataract, Sparse eyebrow, Abnormality of the dentition, Alopecia, Small nail, Fine hair, Alopecia... OMIM:129500
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation
Abnormality of the dentition, Hearing impairment, Fine hair, Fragile nails ORPHA:500166
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia
Alopecia, Fine hair, Abnormal hair morphology, Abnormal dental morphology, Dry skin, Premature lo... ORPHA:248
Lymphedema-Distichiasis Syndrome
Cellulitis, Webbed neck, Yellow nails, Cleft upper lip, Micrognathia, Recurrent corneal erosions,... OMIM:153400
Adult Syndrome
Abnormality of the dentition, Alopecia, Absent nipple, Toenail dysplasia, Skin ulcer, Fine hair, ... ORPHA:978
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome
Abnormality of the dentition, Alopecia, Pigmentary retinopathy, Decreased response to growth horm... ORPHA:3363
Neurodevelopmental Disorder With Variable Motor And Language Impairment
Low-set ears, Downslanted palpebral fissures, Prominent crus of helix, Thin eyebrow, Upper eyelid... OMIM:617804
Scarf Syndrome
Webbed neck, Long philtrum, Umbilical hernia, Downslanted palpebral fissures, Low-set, posteriorl... ORPHA:3134
Oculoskeletodental Syndrome
Abnormality of the dentition, Abnormality of the frontal hairline, Retrognathia, Hearing impairme... ORPHA:557003
Brittle Cornea Syndrome 1
Keratoconus, Atypical scarring of skin, Abnormal cornea morphology, Dentinogenesis imperfecta, He... OMIM:229200
Mandibuloacral Dysplasia
Alopecia, Increased subcutaneous truncal adipose tissue, Dental crowding, Contractures of the lar... ORPHA:2457
Autosomal Dominant Deafness-Onychodystrophy Syndrome
Aplasia/Hypoplasia of the nails, Abnormality of the dentition, Absent toenail, Absent fifth finge... ORPHA:79499
Uncombable Hair Syndrome 2
Pili canaliculi, Uncombable hair, Juvenile cataract OMIM:617251
Amelogenesis Imperfecta, Hypomaturation Type, Iia5
Nail dysplasia, Amelogenesis imperfecta, Carious teeth, Yellow-brown discoloration of the teeth OMIM:615887
Chromosome 19Q13.11 Deletion Syndrome, Distal
Low-set ears, Carious teeth, Dry skin, Postnatal growth retardation, Micrognathia, Reduced subcut... OMIM:613026
Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy
Alopecia, Dystrophic toenail, Sparse body hair, Onychogryposis of toenails, Alopecia of scalp OMIM:617294
Charcot-Marie-Tooth Disease, Demyelinating, Type 1F
Clusters of axonal regeneration, Decreased number of peripheral myelinated nerve fibers, Segmenta... OMIM:607734
Ceroid Lipofuscinosis, Neuronal, 8
Cerebellar atrophy, Cerebral atrophy, Increased neuronal autofluorescent lipopigment, Loss of amb... OMIM:600143
Dyskeratosis Congenita
Carious teeth, Periodontitis, Hypopigmented skin patches, White hair, Premature graying of hair, ... ORPHA:1775
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked
Everted upper lip vermilion, Sparse body hair, Dry skin, Sparse eyelashes, Absent eyelashes, Abse... OMIM:305100
Mandibuloacral Dysplasia With Type A Lipodystrophy
Cataract, Abnormality of the dentition, Alopecia, Hearing impairment, Breast aplasia, Abnormal ey... ORPHA:90153
Glass Syndrome
Low-set ears, Micrognathia, Narrow mouth, High palate, Sparse hair, Pierre-Robin sequence, Downsl... OMIM:612313
Cutaneous Telangiectasia And Cancer Syndrome, Familial
Alopecia, Carious teeth, Yellow nails, Sparse lateral eyebrow, Ridged nail, Nail dystrophy, Conic... OMIM:614564
Osteopenia And Sparse Hair
Sparse hair OMIM:259690
Eec Syndrome
Carious teeth, Dry skin, Sensorineural hearing impairment, Hyperkeratosis, Abnormal pinna morphol... ORPHA:1896
Tietz Syndrome
Hypopigmentation of the skin, Hearing impairment, Abnormal anterior chamber morphology, White eye... ORPHA:42665
Pfeiffer-Palm-Teller Syndrome
Epicanthus, Enamel hypoplasia, Blepharophimosis, Short stature, Abnormal pinna morphology ORPHA:2871
Angioma Serpiginosum, X-Linked
Sparse hair, Nail dystrophy, Fine hair OMIM:300652
Distal Duplication 6P
Low-set ears, Cataract, Aplasia/Hypoplasia of the earlobes, Fine hair, Dry skin, Intrauterine gro... ORPHA:1745
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb
Sparse eyebrow, Failure to thrive, Ankyloglossia, Alopecia of scalp, Malar flattening, Bilateral ... OMIM:618874
Lowry-Maclean Syndrome
High, narrow palate, Talon cusp, Hypoplasia of the maxilla, Generalized hypertrichosis, Dermoid c... ORPHA:2409
Hypotrichosis 7
Abnormal sweat gland morphology, Sparse eyebrow, Sparse body hair, Sparse eyelashes, Sparse axill... OMIM:604379
Hypertrichosis Lanuginosa Congenita
Abnormality of the dentition, Delayed eruption of teeth, Hearing impairment, Gingival overgrowth,... ORPHA:2222
Intellectual Disability, Birk-Barel Type
High, narrow palate, Highly arched eyebrow, Foot joint contracture, Micrognathia, Open mouth, Ten... ORPHA:166108
Roussy-Levy Hereditary Areflexic Dystasia
Hypertrophic nerve changes, Gait ataxia, Decreased number of peripheral myelinated nerve fibers, ... OMIM:180800
Oculodentodigital Dysplasia
Carious teeth, Dry hair, Joint contracture of the 5th finger, Epicanthus, Blepharophimosis, High ... OMIM:164200
Progeroid Syndrome, Petty Type
Abnormal hair morphology, Reduced subcutaneous adipose tissue, Generalized hirsutism, Epicanthus,... ORPHA:2963
Hamamy Syndrome
Low-set ears, Hypochromic anemia, Microcytic anemia, Micrognathia, Cryptorchidism, Sparse eyelash... OMIM:611174
Amelogenesis Imperfecta, Type Ij
Carious teeth, Widely spaced teeth, Increased overbite, Amelogenesis imperfecta, Enamel hypoplasi... OMIM:617297
Chronic Inflammatory Demyelinating Polyneuropathy
Falls, Difficulty walking, Peripheral demyelination, Segmental peripheral demyelination/remyelina... ORPHA:2932
Cockayne Syndrome A
Carious teeth, Dry hair, Dry skin, Reduced subcutaneous adipose tissue, Hip contracture, Delayed ... OMIM:216400
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome
Underdeveloped superior crus of antihelix, Microcytic anemia, Micrognathia, Cryptorchidism, Abnor... ORPHA:293967
Charcot-Marie-Tooth Disease, Dominant Intermediate F
Axonal regeneration, Peripheral demyelination, Steppage gait, Onion bulb formation OMIM:615185
Leopard Syndrome 2
Low-set ears, Webbed neck, Downslanted palpebral fissures, Thick lower lip vermilion, Dry skin, M... OMIM:611554
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities
Bifid uvula, Abnormality of the dentition, Highly arched eyebrow, Prominent antihelix, Failure to... OMIM:615802
Otodental Syndrome
Carious teeth, Periodontitis, Lens coloboma, Iris coloboma, Cataract, Microcornea, Abnormality of... ORPHA:2791
Hidrotic Ectodermal Dysplasia, Halal Type
Irregular menstruation, Retrognathia, Hearing impairment, Supernumerary nipple, Sparse body hair,... ORPHA:1809
Hereditary Acrokeratotic Poikiloderma
Gingival bleeding, Erythema, Hypopigmented skin patches, Hearing impairment, Open bite, Ankyloglo... ORPHA:2907
Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant
Leukodystrophy, Abnormal cerebellum morphology, Corpus callosum atrophy, Ataxia, Impotence, Auton... OMIM:169500
Hypertrophic Neuropathy Of Dejerine-Sottas
Hypertrophic nerve changes, Broad-based gait, Peripheral demyelination, Myelin tomacula, Decrease... OMIM:145900
Charcot-Marie-Tooth Disease, Demyelinating, Type 1A
Hypertrophic nerve changes, Decreased number of peripheral myelinated nerve fibers, Steppage gait... OMIM:118220
Ectodermal Dysplasia 10A, Hypohidrotic/Hair/Nail Type, Autosomal Dominant
Sparse eyebrow, Fine hair, Dry skin, Ridged nail, Sparse eyelashes, Microdontia, Hypodontia, Anod... OMIM:129490
Rothmund-Thomson Syndrome, Type 2
Premature graying of hair, Dermal atrophy, Micrognathia, Cryptorchidism, Sparse eyelashes, Absent... OMIM:268400
Charcot-Marie-Tooth Disease, Axonal, Type 2I
Steppage gait, Axonal degeneration/regeneration, Decreased number of peripheral myelinated nerve ... OMIM:607677
Short Syndrome
Low-set ears, Megalocornea, Micrognathia, Reduced subcutaneous adipose tissue, Ovarian cyst, Sens... OMIM:269880
Trichothiodystrophy 9, Nonphotosensitive
High, narrow palate, Sparse eyebrow, Dental malocclusion, Tiger tail banding, Nail dystrophy, Epi... OMIM:619692
Cockayne Syndrome Type 2
Male hypogonadism, Hearing impairment, Widely spaced primary teeth, Intrauterine growth retardati... ORPHA:90322
Amelogenesis Imperfecta, Hypomaturation Type, Iia1
Carious teeth, Yellow-brown discoloration of the teeth, Enamel hypomineralization, Amelogenesis i... OMIM:204700
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Carious teeth, Micrognathia, Bilateral cleft palate, Anodontia, Sparse hair, Macrotia, Alopecia, ... ORPHA:3253
Pili Torti-Onychodysplasia Syndrome
Alopecia universalis, Alopecia, Cleft lip, Keloids, Palmoplantar keratoderma, Sparse body hair, D... ORPHA:2890
Developmental And Epileptic Encephalopathy 66
Macrodontia of permanent maxillary central incisor, Downturned corners of mouth, Widely spaced te... OMIM:618067
Spastic Paraplegia With Neuropathy And Poikiloderma
Demyelinating sensory neuropathy, Absent eyelashes, Absent eyebrow, Demyelinating motor neuropath... OMIM:182815
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Small nail, Hearing impairment, Cleft mandible, Delayed peripheral myelination, Everted lower lip... ORPHA:364577
Uncombable Hair Syndrome 3
Pili canaliculi, Brittle hair, Uncombable hair, Curly hair OMIM:617252
Noonan Syndrome 5
Low-set ears, Webbed neck, Sparse eyebrow, Small nail, Fine hair, Downslanted palpebral fissures,... OMIM:611553
Tangier Disease
Dry skin, Peripheral demyelination, Facial diplegia, Splenomegaly, Nail dystrophy, Peripheral axo... OMIM:205400
Charcot-Marie-Tooth Disease, Axonal, Type 2H
Axonal regeneration, Steppage gait, Decreased number of peripheral myelinated nerve fibers OMIM:607731
Aredyld Syndrome
Craniofacial hyperostosis, Mandibular prognathia, Sparse body hair, Abnormal dental enamel morpho... ORPHA:1133
Tricho-Retino-Dento-Digital Syndrome
Sparse hair, Abnormality of the dentition, Abnormality of retinal pigmentation, Oligodontia, Juve... ORPHA:1264
Acrokeratoderma, Hereditary Papulotranslucent
Skin plaque, Papule, Fine hair OMIM:101840
Microcephalic Primordial Dwarfism, Toriello Type
Severe short stature, Cataract, Downturned corners of mouth, Downslanted palpebral fissures, Intr... ORPHA:2643
Tooth Agenesis, Selective, 4
Sparse eyebrow, Sparse scalp hair, Dystrophic toenail, Tooth agenesis, Peg-shaped maxillary later... OMIM:150400
Trichothiodystrophy 3, Photosensitive
Low-set ears, Cataract, Carious teeth, Natal tooth, Failure to thrive, Hearing impairment, Bilate... OMIM:616395
Brachycephaly, Trichomegaly, And Developmental Delay
Low-set ears, Bifid uvula, Highly arched eyebrow, Conductive hearing impairment, Thick lower lip ... OMIM:617412
Autosomal Recessive Generalized Epidermolysis Bullosa Simplex
Skin erosion, Hypopigmentation of the skin, Dystrophic toenail, Nevus, Failure to thrive, Abnorma... ORPHA:89838
Familial Partial Lipodystrophy, Dunnigan Type
Cellulitis, Secondary amenorrhea, Splenomegaly, Polycystic ovaries, Generalized hirsutism, Advanc... ORPHA:2348
Focal Dermal Hypoplasia
Low-set ears, Erythema, Hearing impairment, Open bite, Dermal atrophy, Congenital diaphragmatic h... ORPHA:2092
Spinocerebellar Ataxia 11
Cerebellar atrophy, Gait imbalance, Gait ataxia, Limb ataxia, Truncal ataxia, Progressive cerebel... OMIM:604432
Ectodermal Dysplasia-Blindness Syndrome
Cataract, Microcornea, Abnormality of the dentition, Skin ulcer, Fine hair, Hearing impairment, A... ORPHA:1806
Intellectual Developmental Disorder, X-Linked 45
Protruding ear, Macrotia OMIM:300498
Lacrimoauriculodentodigital Syndrome
Low-set ears, Carious teeth, Micrognathia, Limbal stem cell deficiency, Cryptorchidism, Sensorine... ORPHA:2363
Short dental root, Agenesis of mandibular premolar, Abnormality of canine, Peg-shaped maxillary l... ORPHA:99798
Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia
Axillary pterygium, Atrophic scars, Milia, Nail dystrophy, Oral mucosal blisters, Nail dysplasia,... OMIM:226730
Congenital Cataracts, Facial Dysmorphism, And Neuropathy
Abnormality of the dentition, Microcornea, Malar prominence, Decreased testicular size, Periphera... OMIM:604168
Specific Granule Deficiency 2
Low-set ears, Tooth malposition, Conical tooth, Failure to thrive, Recurrent otitis media, Hirsut... OMIM:617475
Odontoonychodermal Dysplasia
Erythema, Dry hair, Sparse body hair, Dry skin, Follicular hyperkeratosis, Thin nail, Sparse eyeb... OMIM:257980
Conductive Deafness-Ptosis-Skeletal Anomalies Syndrome
Conductive hearing impairment, Atresia of the external auditory canal, Fine hair, Abnormal dental... ORPHA:3236
Acute Inflammatory Demyelinating Polyradiculoneuropathy
Unsteady gait, Acute demyelinating polyneuropathy, Onion bulb formation ORPHA:98916
Tooth Agenesis, Selective, 3
Oligodontia of primary teeth, Abnormal hair morphology, Abnormal fingernail morphology, Agenesis ... OMIM:604625
Charcot-Marie-Tooth Disease, Demyelinating, Type 1C
Hypertrophic nerve changes, Gait ataxia, Ataxia, Segmental peripheral demyelination/remyelination... OMIM:601098
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Cataract, Conical tooth, Optic atrophy, Dental malocclusion, Ectopia pupillae, Unilateral narrow ... OMIM:618727
Charcot-Marie-Tooth Disease, X-Linked Recessive, 5
Optic atrophy, Segmental peripheral demyelination/remyelination, Gait disturbance, Onion bulb for... OMIM:311070
Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness
Peripheral demyelination, Clusters of axonal regeneration, Chronic axonal neuropathy, Loss of amb... ORPHA:101097
Scarf Syndrome
Low-set ears, Webbed neck, Long philtrum, Umbilical hernia, Downslanted palpebral fissures, Ingui... OMIM:312830
Charcot-Marie-Tooth Disease, Type 4H
Decreased number of peripheral myelinated nerve fibers, Peripheral hypomyelination, Unsteady gait... OMIM:609311
Trichodental Dysplasia
Conical tooth, Fine hair, Hypodontia, Slow-growing hair, Brittle hair, Sparse hair, Odontodysplasia OMIM:601453
Crandall Syndrome
Alopecia, Fine hair, Sparse body hair, Hypogonadism, Brittle hair, Pili torti, Aplasia/Hypoplasia... ORPHA:202
Mulibrey Nanism
Pigmentary retinopathy, Microglossia, Dental malocclusion, Dental crowding, Growth delay, Intraut... OMIM:253250
Griscelli Syndrome, Type 1
Silver-gray hair, Hypopigmentation of the skin, Melanin pigment aggregation in hair shafts, Large... OMIM:214450
Rothmund-Thomson Syndrome
Carious teeth, Aplastic anemia, Small nail, Alopecia totalis, Infertility, Sparse eyelashes, Neut... ORPHA:2909
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Cataract, Cholelithiasis, Alopecia, Alopecia universalis, Pigmentary retinopathy, Female hypogona... OMIM:240300
Otoonychoperoneal Syndrome
Aplasia/Hypoplasia of the earlobes, Abnormal helix morphology, Abnormal antihelix morphology, Und... ORPHA:2793
Hypotrichosis-Lymphedema-Telangiectasia Syndrome
Abnormality of the dentition, Abnormal sweat gland morphology, Alopecia, Absent eyelashes, Absent... OMIM:607823
Orofacial Cleft 15
Low-set ears, Sparse eyebrow, High anterior hairline, Palate fistula, Inguinal hernia, Upslanted ... OMIM:616788
Alopecia, Nail dystrophy, Nail dysplasia, Brittle hair, Abnormality of hair texture, Sparse hair OMIM:158000
Gordon Holmes Syndrome
Cerebellar atrophy, Cerebral atrophy, Primary amenorrhea, Hypogonadotropic hypogonadism, Oligomen... OMIM:212840
Amelogenesis Imperfecta, Type Ia
Generalized microdontia, Dental enamel pits, Taurodontia, Amelogenesis imperfecta, Enamel hypoplasia OMIM:104530
Focal Facial Dermal Dysplasia Type Iii
Highly arched eyebrow, Downturned corners of mouth, Sparse lateral eyebrow, Downslanted palpebral... ORPHA:1807
Neurodevelopmental Disorder With Speech Delay And Variable Ocular Anomalies
Low-set ears, Sparse eyebrow, Hearing impairment, Downslanted palpebral fissures, Wide mouth, Thi... OMIM:619989
Hall-Riggs Syndrome
Failure to thrive, Thick lower lip vermilion, Intrauterine growth retardation, Hypoplasia of the ... OMIM:234250
Woolly Hair
Cataract, Sparse lateral eyebrow, Fine hair, Sparse body hair, Abnormal pupil morphology, Slow-gr... ORPHA:170
Amelogenesis Imperfecta, Type Iiib
Amelogenesis imperfecta, Enamel hypomineralization OMIM:617607
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Carious teeth, Cryptorchidism, Sparse eyelashes, Absence of Stensen duct, Blepharophimosis, Spars... OMIM:129900
Epidermolysis Bullosa Simplex With Mottled Pigmentation
Hyperkeratotic papule, Abnormality of the dentition, Alopecia, Mottled pigmentation, Hypermelanot... ORPHA:79397
Dentin Dysplasia, Type Ii
Dentinogenesis imperfecta limited to primary teeth, Pulp calcification, Thistle tube shaped pulp OMIM:125420
Johnson Neuroectodermal Syndrome
Severe short stature, Alopecia, Carious teeth, Conductive hearing impairment, Failure to thrive, ... ORPHA:2316
Tricho-Dento-Osseous Syndrome
Dental enamel pits, Widely spaced teeth, Periapical tooth abscess, Enamel hypomineralization, Mic... ORPHA:3352
Weaver Syndrome
Retrognathia, Long philtrum, Camptodactyly of finger, Downslanted palpebral fissures, Fine hair, ... ORPHA:3447
Amelogenesis Imperfecta, Hypomaturation Type, Iia6
Amelogenesis imperfecta, Enamel hypomineralization, Anterior open-bite malocclusion OMIM:617217
Schopf-Schulz-Passarge Syndrome
Palmoplantar keratoderma, Small nail, Poroma, Sparse body hair, Apocrine hidrocystoma, Dry skin, ... OMIM:224750
Griscelli Syndrome, Type 3
Silver-gray hair, Large clumps of pigment irregularly distributed along hair shaft, White eyelashes OMIM:609227
Auriculocondylar Syndrome 2B
Preauricular skin tag, Darwin tubercle of helix, Failure to thrive, Question mark ear, Postnatal ... OMIM:620458
Trisomy 4P
Abnormality of the dentition, Carious teeth, Camptodactyly of finger, Low-set, posteriorly rotate... ORPHA:1738
Xq27.3Q28 Duplication Syndrome
Failure to thrive, Sparse body hair, Hypogonadism, Decreased testicular size, Intrauterine growth... ORPHA:261483
Ring Chromosome 6 Syndrome
Low posterior hairline, Macrotia ORPHA:1448
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 2
Low-set ears, High anterior hairline, Short stature, Notched primary central incisor, Hydrocele t... OMIM:620062
Oculodentodigital Dysplasia
Carious teeth, Hearing impairment, Micrognathia, Epicanthus, Brittle hair, Curly hair, Sparse hai... ORPHA:2710
Mitochondrial Dna Depletion Syndrome 7 (Hepatocerebral Type)
Optic atrophy, Cerebral cortical atrophy, Cerebellar atrophy, Sensory axonal neuropathy, Loss of ... OMIM:271245
Leopard Syndrome 3
Low-set ears, Webbed neck, Palpebral thickening, Growth delay, Downslanted palpebral fissures, Mu... OMIM:613707
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3
Webbed neck, Joint contracture of the hand, Bifid uvula, Dental malocclusion, Delayed eruption of... OMIM:612350
Flynn-Aird Syndrome
Cataract, Alopecia, Carious teeth, Progressive sensorineural hearing impairment, Dermal atrophy, ... OMIM:136300
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2
Growth delay, Downturned corners of mouth, Fine hair, Downslanted palpebral fissures, Hearing imp... OMIM:616817
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Sparse eyebrow, Alopecia, Orthokeratosis, Dry skin, Splenomegaly, Sparse eyelashes, Oligodontia, ... OMIM:607626
Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome
Optic nerve hypoplasia, Fine hair, Inappropriate laughter, Micrognathia, Wide mouth, Astigmatism,... ORPHA:363686
Trichorhinophalangeal Syndrome, Type Iii
Sparse hair, Dental crowding, Sparse lateral eyebrow, Long philtrum, Fine hair, Thin upper lip ve... OMIM:190351
48,Xxyy Syndrome
Broad jaw, Carious teeth, Delayed eruption of teeth, Thick lower lip vermilion, Open bite, Abnorm... ORPHA:10
Subacute Inflammatory Demyelinating Polyneuropathy
Difficulty walking, Peripheral demyelination, Steppage gait, Gait disturbance, Axonal loss, Demye... ORPHA:206594
Trichothiodystrophy 1, Photosensitive
Small nail, Dry skin, Brittle hair, Sparse hair, Hyperkeratosis, Macrotia, Cataract, Microcornea,... OMIM:601675
Charcot-Marie-Tooth Disease, Type 4K
Axonal loss, Difficulty walking, Peripheral demyelination, Ataxia OMIM:616684
Charcot-Marie-Tooth Disease, Demyelinating, Type 1G
Difficulty walking, Peripheral demyelination, Steppage gait, Onion bulb formation OMIM:618279
Dentinogenesis Imperfecta, Shields Type Iii
Dental enamel pits, Dentinogenesis imperfecta, Periapical bone loss, Anterior open-bite malocclus... OMIM:125500
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Cerebellar atrophy, Tip-toe gait, Difficulty walking, Dysmetria, Axonal degeneration, Decreased n... OMIM:302800
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Hypopigmentation of the skin, Pallor, Albinism, Hypopigmentation of hair, Short stature ORPHA:2786
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Cataract, Alopecia, Aplasia/Hypoplasia of the iris, Ptosis, Corneal opacity, Hypopigmentation of ... ORPHA:1067
Spinocerebellar Ataxia 18
Cerebellar atrophy, Sensory axonal neuropathy, Dysmetria, Progressive gait ataxia, Dysdiadochokin... OMIM:607458
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Carious teeth, Microretrognathia, Hearing impairment, Disproportionate short stature, Tooth agene... OMIM:618363
Charcot-Marie-Tooth Disease, Recessive Intermediate A
Decreased number of large peripheral myelinated nerve fibers, Peripheral demyelination, Steppage ... OMIM:608340
Mandibulofacial Dysostosis With Macroblepharon And Macrostomia
Keratitis, Long philtrum, Downslanted palpebral fissures, Recurrent otitis media, Micrognathia, T... OMIM:602562
Adult Krabbe Disease
Abnormal medulla oblongata morphology, Broad-based gait, Peripheral demyelination, Gait disturban... ORPHA:206448
Hair Defect With Photosensitivity And Impaired Intellectual Development
Sparse eyebrow, Coarse hair, Sparse eyelashes, Brittle hair, Sparse hair OMIM:234030
Amelo-Onycho-Hypohidrotic Syndrome
Yellow-brown discoloration of the teeth, Delayed eruption of teeth, Fine hair, Tooth agenesis, Ab... ORPHA:1028
Recessive Dystrophic Epidermolysis Bullosa Inversa
Localized skin lesion, Carious teeth, Atrophic scars, Milia, Nail dystrophy, Oral mucosal blister... ORPHA:79409
2Q32Q33 Microdeletion Syndrome
Low-set ears, Dental crowding, Growth delay, Long philtrum, Downslanted palpebral fissures, Fine ... ORPHA:251019
Arthrogryposis And Ectodermal Dysplasia
Trichiasis, Nuclear cataract, Joint contracture of the hand, Atypical scarring of skin, Cleft upp... OMIM:601701
Autosomal Spastic Paraplegia Type 58
Cerebellar atrophy, Tip-toe gait, Cerebral atrophy, Peripheral demyelination, Gait ataxia, Dysmet... ORPHA:397946
Self-Improving Dystrophic Epidermolysis Bullosa
Skin erosion, Carious teeth, Atrophic scars, Milia, Nail dystrophy, Oral mucosal blisters, Anonyc... ORPHA:79411
Gand Syndrome
Inappropriate laughter, Thin upper lip vermilion, Blepharophimosis, Narrow palpebral fissure, Sho... OMIM:615074
Spinocerebellar Ataxia, Autosomal Recessive 16
Cerebellar atrophy, Hypogonadism, Limb ataxia, Cerebellar hypoplasia, Truncal ataxia, Unsteady gait OMIM:615768
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome
Sparse eyebrow, Sparse body hair, Abnormal dental enamel morphology, Splenomegaly, Oligodontia, S... ORPHA:59303
Otodental Dysplasia
Delayed eruption of teeth, Long philtrum, Agenesis of premolar, Sensorineural hearing impairment,... OMIM:166750
Trichothiodystrophy 8, Nonphotosensitive
Sparse eyebrow, Retrognathia, Long philtrum, Trichorrhexis nodosa, Thin upper lip vermilion, Wool... OMIM:619691
Uncombable Hair Syndrome 1
Dry hair, Pili canaliculi, Uncombable hair OMIM:191480
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2
Dental crowding, Misalignment of incisors, Postnatal growth retardation, Intrauterine growth reta... OMIM:619184
Cerebellar Ataxia-Ectodermal Dysplasia Syndrome
Fine hair, Inguinal hernia, Cryptorchidism, Microdontia, Hypodontia, Sparse hair ORPHA:1174
Charcot-Marie-Tooth Disease, Type 4C
Basal lamina onion bulb formation, Difficulty walking, Abnormal cranial nerve morphology, Axonal ... OMIM:601596
Hall-Riggs Syndrome
Coarse hair, Delayed eruption of teeth, Downturned corners of mouth, Failure to thrive, Abnormal ... ORPHA:2107
Leukomelanoderma-Infantilism-Intellectual Disability-Hypodontia-Hypotrichosis Syndrome
Irregular hyperpigmentation, Palmoplantar keratoderma, Delayed eruption of teeth, Abnormal eyebro... ORPHA:1816
Cerebellar-Facial-Dental Syndrome
Low-set ears, Cataract, Macrodontia of permanent maxillary central incisor, Sparse eyebrow, Denta... ORPHA:444072
Arthrochalasia Ehlers-Danlos Syndrome
Severe short stature, Retrognathia, Abnormality of subcutaneous fat tissue, Micrognathia, Inguina... ORPHA:1899
Stuve-Wiedemann Syndrome 1
Low-set ears, Carious teeth, Pursed lips, Micrognathia, Sparse hair, Short palpebral fissure, Kne... OMIM:601559
Ectodermal Dysplasia/Short Stature Syndrome
Palmoplantar keratoderma, Delayed eruption of teeth, Nail dystrophy, Sensorineural hearing impair... OMIM:616029
Eem Syndrome
Carious teeth, Selective tooth agenesis, Widely spaced teeth, Sparse body hair, Abnormal dental m... ORPHA:1897
48,Xyyy Syndrome
Male hypogonadism, Long philtrum, Thick lower lip vermilion, Azoospermia, Epicanthus, Enamel hypo... ORPHA:99329
Cutis Laxa, Autosomal Recessive, Type Iia
Low-set ears, Carious teeth, Coarse hair, Failure to thrive, Long philtrum, Downslanted palpebral... OMIM:219200
Neurodegeneration With Brain Iron Accumulation 8
Cerebellar atrophy, Dysmetria, Loss of ambulation, Ataxia, Unsteady gait OMIM:617917
Amelogenesis Imperfecta, Type Iiia
Amelogenesis imperfecta, Dental malocclusion, Anterior open-bite malocclusion OMIM:130900
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum
Narrow palate, Retrognathia, Long philtrum, Downslanted palpebral fissures, Fine hair, Hearing im... OMIM:620250
Vitamin D-Dependent Rickets, Type 2A
Alopecia universalis, Carious teeth, Delayed eruption of teeth, Failure to thrive, Hearing impair... OMIM:277440
Generalized hypotrichosis, Mandibular prognathia OMIM:207780
Spinocerebellar Ataxia 46
Cerebellar atrophy, Sensory axonal neuropathy, Limb ataxia, Gait ataxia, Dysmetria OMIM:617770
Congenital Heart Defect-Round Face-Developmental Delay Syndrome
Generalized hyperpigmentation, Narrow mouth, Abnormal oral cavity morphology, Short stature, Hypo... ORPHA:1355
Woolly Hair Nevus
Congenital posterior occipital alopecia, Fine hair, Verrucous epidermal nevus, Woolly scalp hair,... ORPHA:79414
Cerebroretinal Microangiopathy With Calcifications And Cysts 1
Optic atrophy, Oral leukoplakia, Fine hair, Premature graying of hair, Leukodystrophy, Postnatal ... OMIM:612199
Incontinentia Pigmenti
Erythema, Supernumerary nipple, Sparse hair, Hyperkeratosis, Onychogryposis, Cataract, Alopecia, ... OMIM:308300
Charcot-Marie-Tooth Disease, Axonal, Type 2J
Peripheral demyelination, Steppage gait, Axonal degeneration/regeneration OMIM:607736
Cerebellofaciodental Syndrome
Low-set ears, Cataract, Sparse eyebrow, Macrodontia of permanent maxillary central incisor, Denta... OMIM:616202
Microcephalic Primordial Dwarfism, Montreal Type
Severe short stature, Carious teeth, Premature graying of hair, Open bite, Dry skin, Low-set, pos... ORPHA:2617
Tetraamelia With Ectodermal Dysplasia And Lacrimal Duct Abnormalities
High, narrow palate, Downturned corners of mouth, Umbilical hernia, Preauricular pit, Hypoplastic... OMIM:273390
Trichorhinophalangeal Syndrome Type 2
Abnormality of the dentition, Conductive hearing impairment, Long philtrum, Low-set, posteriorly ... ORPHA:502
Koolen-De Vries Syndrome
Dry skin, Cryptorchidism, Overfriendliness, Epicanthus, Everted lower lip vermilion, Blepharophim... ORPHA:96169
Congenital Ichthyosiform Erythroderma
Alopecia, Palmoplantar keratoderma, Keratitis, Failure to thrive, Hearing impairment, Ectropion, ... ORPHA:79394
Snijders Blok-Campeau Syndrome
Low-set ears, Widely spaced teeth, Umbilical hernia, Inguinal hernia, Astigmatism, Taurodontia, E... OMIM:618205
Amelogenesis Imperfecta, Type Ic
Yellow-brown discoloration of the teeth, Enamel hypomineralization, Taurodontia, Amelogenesis imp... OMIM:204650
Acrodermatitis Enteropathica
Erythema, Alopecia, Abnormality of the nail, Ridged fingernail, Skin ulcer, Failure to thrive, Fu... ORPHA:37
Cohen Syndrome
High, narrow palate, Macrodontia of permanent maxillary central incisor, Hypoplasia of the maxill... OMIM:216550
11Q22.2Q22.3 Microdeletion Syndrome
High, narrow palate, Low-set ears, Obesity, Micrognathia, Thick eyebrow, Thin upper lip vermilion... ORPHA:444002
Charcot-Marie-Tooth Disease, Type 4B2
Difficulty walking, Decreased number of peripheral myelinated nerve fibers, Steppage gait, Segmen... OMIM:604563
Zellweger-Like Syndrome Without Peroxisomal Anomalies
Alopecia, Failure to thrive, Intrauterine growth retardation, Upslanted palpebral fissure, Epican... ORPHA:50812
Nicolaides-Baraitser Syndrome
High, narrow palate, Highly arched eyebrow, Short palpebral fissure, Alopecia, Severe short statu... ORPHA:3051
Spastic Ataxia, Charlevoix-Saguenay Type
Loss of Purkinje cells in the cerebellar vermis, Spastic gait, Falls, Cerebellar vermis atrophy, ... OMIM:270550
Smith-Magenis Syndrome
Microcornea, Conductive hearing impairment, Cleft upper lip, Failure to thrive in infancy, Obesit... ORPHA:819
Hypotrichosis 12
Abnormal sweat gland morphology, Sparse pubic hair, Dry hair, Sparse or absent eyelashes, Sparse ... OMIM:615885
Cardiofaciocutaneous Syndrome 2
Low-set ears, Fine hair, Peripheral axonal neuropathy, Ptosis, Absent eyebrow, Curly hair, High p... OMIM:615278
Noonan Syndrome 4
Low-set ears, Webbed neck, Sparse eyebrow, High anterior hairline, Dental malocclusion, Downslant... OMIM:610733
Cockayne Syndrome B
Carious teeth, Dry hair, Abnormal hair morphology, Dry skin, Dermal atrophy, Postnatal growth ret... OMIM:133540
Epidermolysis Bullosa Simplex With Muscular Dystrophy
Alopecia, Hypoplastic fingernail, Abnormal dental enamel morphology, Hyperconvex fingernails, Der... ORPHA:257
Tonne-Kalscheuer Syndrome
Velopharyngeal insufficiency, Downturned corners of mouth, Widely spaced teeth, Downslanted palpe... OMIM:300978
Rothmund-Thomson Syndrome Type 1
Carious teeth, Aplastic anemia, Alopecia totalis, Dermal atrophy, Cryptorchidism, Neutropenia, Le... ORPHA:221008
Fanconi Anemia, Complementation Group S
Dental malocclusion, Failure to thrive, Thick upper lip vermilion, Macrodontia, Long eyelashes, U... OMIM:617883
Congenital Heart Defects And Skeletal Malformations Syndrome
Carious teeth, Dental crowding, Downturned corners of mouth, Medial flaring of the eyebrow, Failu... OMIM:617602
Amelogenesis Imperfecta, Type Ih
Dental enamel pits, Yellow-brown discoloration of the teeth, Amelogenesis imperfecta, Enamel hypo... OMIM:616221
Cockayne Syndrome Type 1
Hearing impairment, Postnatal growth retardation, Cryptorchidism, Delayed eruption of primary tee... ORPHA:90321
Abruzzo-Erickson Syndrome
Protruding ear, Hearing impairment, Macrotia OMIM:302905
Focal Facial Dermal Dysplasia 3, Setleis Type
Thick upper lip vermilion, Low anterior hairline, Epicanthus, Distichiasis, Sparse hair, Absent l... OMIM:227260
Kid Syndrome
Trichilemmoma, Posterior blepharitis, Prelingual sensorineural hearing impairment, Aplastic/hypop... ORPHA:477
Lenz-Majewski Hyperostotic Dwarfism
Micrognathia, Cryptorchidism, Sensorineural hearing impairment, Chordee, Anterior pituitary hypop... OMIM:151050
Hemifacial Atrophy, Progressive
Dental malocclusion, Delayed eruption of teeth, Patchy alopecia, Blepharophimosis, Horner syndrom... OMIM:141300
Charcot-Marie-Tooth Disease Type 4G
Difficulty walking, Peripheral demyelination, Gait imbalance, Loss of ambulation, Peripheral axon... ORPHA:99953
Spastic Ataxia 5, Autosomal Recessive
Cerebellar atrophy, Dysdiadochokinesis, Dysmetria, Spastic ataxia, Ataxia, Onion bulb formation OMIM:614487
Porphyria, Congenital Erythropoietic
Joint contracture of the hand, Atypical scarring of skin, Cholelithiasis, Alopecia, Hypopigmentat... OMIM:263700
Silver-Russell Syndrome Due To 7P11.2P13 Microduplication
High anterior hairline, Downturned corners of mouth, Fine hair, Postnatal growth retardation, Lon... ORPHA:231137
Helsmoortel-Van Der Aa Syndrome
Low-set ears, Carious teeth, Ankyloglossia, Cryptorchidism, Epicanthus, Everted lower lip vermili... OMIM:615873
Alopecia-Intellectual Disability Syndrome
Alopecia, Hearing impairment, Sparse body hair, Macrotia, Aplasia/Hypoplasia of the eyebrow, Spar... ORPHA:2850
Carabelli Anomaly Of Maxillary Molar Teeth
Abnormality of the dentition, Shovel-shaped maxillary central incisors, Abnormality of molar OMIM:114700
Sjögren-Larsson Syndrome
Erythema, Abnormal dental enamel morphology, Dry skin, Generalized hyperpigmentation, Abnormality... ORPHA:816
Metachromatic Leukodystrophy Due To Saposin B Deficiency
Loss of ambulation, Gait ataxia, Peripheral demyelination, CNS demyelination OMIM:249900
Cardiocranial Syndrome, Pfeiffer Type
High, narrow palate, Bifid uvula, Abnormal hair whorl, Low-set ears, Growth delay, Contracture of... ORPHA:2872
Sabinas Brittle Hair Syndrome
Dry hair, Nail dystrophy, Nail dysplasia, Brittle hair, Sparse hair OMIM:211390
Charcot-Marie-Tooth Disease, Axonal, Type 2B1
Axonal degeneration/regeneration, Decreased number of peripheral myelinated nerve fibers, Steppag... OMIM:605588
Lelis Syndrome
Yellow nails, Carious teeth, Sparse lateral eyebrow, Furrowed tongue, Vitiligo, Perioral hyperpig... ORPHA:140936
Spinocerebellar Ataxia, Autosomal Recessive 22
Cerebellar atrophy, Dysmetria, Ataxia, Truncal ataxia, Unsteady gait OMIM:616948
Tetrasomy 12P
Sparse eyebrow, Delayed eruption of teeth, Downturned corners of mouth, Long philtrum, Thick uppe... ORPHA:884
Dental Ankylosis
Abnormal dental enamel morphology, Mandibular prognathia, Tooth agenesis ORPHA:1077
Spinocerebellar Ataxia 23
Cerebellar atrophy, Limb ataxia, Gait ataxia, Dysmetria, CNS demyelination, Neuronal loss in cent... OMIM:610245
Adult-onset autosomal dominant leukodystrophy (ADLD)
Peripheral demyelination, Leukodystrophy DECIPHER:59
Slowed Nerve Conduction Velocity, Autosomal Dominant
Peripheral demyelination, Onion bulb formation OMIM:608236
Craniolenticulosutural Dysplasia
Hypoplasia of the maxilla, Posterior Y-sutural cataract, Carious teeth, Delayed eruption of teeth... ORPHA:50814
Woolly Hair, Hypotrichosis, Everted Lower Lip, And Outstanding Ears
Woolly hair, Sparse hair OMIM:278200
Oculocerebrocutaneous Syndrome
Iris coloboma, Alopecia, Preauricular skin tag, Hypopigmented skin patches, Hearing impairment, A... ORPHA:1647
Marshall-Smith Syndrome
Optic atrophy, Conductive hearing impairment, Retrognathia, Failure to thrive, Gingival overgrowt... ORPHA:561
Trichorhinophalangeal Syndrome Type 1
Sparse hair, Abnormality of the dentition, Sparse eyebrow, Long philtrum, Camptodactyly of finger... ORPHA:77258
Ectodermal Dysplasia 9, Hair/Nail Type
Abnormal sweat gland morphology, Abnormal sebaceous gland morphology, Atrichia, Absent hair, Nail... OMIM:614931
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1
Pigmentary retinopathy, Hypochromic anemia, Failure to thrive, Microcytic anemia, Sideroblastic a... OMIM:600462
Blepharocheilodontic Syndrome 1
Conical tooth, High anterior hairline, Small nail, Cleft upper lip, Euryblepharon, Hypodontia, Di... OMIM:119580
Vulto-Van Silfhout-De Vries Syndrome
Horizontal eyebrow, Fine hair, Thick lower lip vermilion, Tented upper lip vermilion, Upslanted p... OMIM:615828
Lower Limb Malformation-Hypospadias Syndrome
Low-set, posteriorly rotated ears, Macrotia ORPHA:2487
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome
Severe short stature, Alopecia, Abnormal helix morphology, Moderate postnatal growth retardation,... ORPHA:1005
Orofaciodigital Syndrome I
Low-set ears, Carious teeth, Dry hair, Hearing impairment, Ankyloglossia, Ovarian cyst, Epicanthu... OMIM:311200
Vernal Keratoconjunctivitis
Keratoconus, Abnormal cornea morphology, Allergic conjunctivitis, Corneal neovascularization, Con... ORPHA:70476
Celiac Disease, Susceptibility To, 1
Alopecia, Failure to thrive, Postnatal growth retardation, Recurrent aphthous stomatitis, Macrocy... OMIM:212750
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11
Woolly hair, Palmoplantar keratoderma OMIM:610476
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2K
Peripheral demyelination, Gait disturbance ORPHA:99944
Temtamy Syndrome
Low-set ears, Highly arched eyebrow, Ectopia lentis, Dental crowding, Long philtrum, Downslanted ... OMIM:218340
Palmoplantar Keratoderma And Woolly Hair
Sparse eyebrow, Sparse body hair, Leukonychia, Sparse eyelashes, Woolly hair, Sparse scalp hair OMIM:616099
Den Hoed-De Boer-Voisin Syndrome
Carious teeth, Yellow-brown discoloration of the teeth, Delayed eruption of teeth, Widely spaced ... OMIM:619229
Methionine Adenosyltransferase I/Iii Deficiency
Peripheral demyelination, CNS demyelination OMIM:250850
Waardenburg Syndrome, Type 2F
Hypopigmentation of the skin, White hair, Premature graying of hair, Congenital sensorineural hea... OMIM:619947
Bilateral Frontoparietal Polymicrogyria
Cerebellar vermis hypoplasia, Hypoplasia of the pons, Cerebellar dysplasia, Abnormal cerebellum m... ORPHA:101070
Acrootoocular Syndrome
Low-set ears, Atresia of the external auditory canal, Abnormal earlobe morphology, Micrognathia, ... ORPHA:2980
Herpes Simplex Virus Stromal Keratitis
Corneal perforation, Herpetiform vesicles, Keratitis, Conjunctival hyperemia, Corneal stromal ede... ORPHA:137599
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Aplasia/Hypoplasia of the earlobes, Conductive hearing impairment, Abnormal hair morphology, Micr... ORPHA:3082
Neurodevelopmental Disorder With Spasticity, Seizures, And Brain Abnormalities
Low-set ears, Mandibular prognathia, Failure to thrive, Long philtrum, Downslanted palpebral fiss... OMIM:620001
Even-Plus Syndrome
Severe short stature, Cataract, Highly arched eyebrow, Hypodontia, Aplasia cutis congenita, High ... OMIM:616854
Rhizomelic Chondrodysplasia Punctata
Cataract, Alopecia, Abnormality of the dentition, Rhizomelia, Sparse body hair, Dry skin, Epicant... ORPHA:177
Intellectual Developmental Disorder, Autosomal Recessive 5
Thick upper lip vermilion, Postnatal growth retardation, Telecanthus, Thick eyebrow, Smooth philt... OMIM:611091
Heimler Syndrome 1
Retinal pigment epithelial mottling, Leukonychia, Sensorineural hearing impairment, Amelogenesis ... OMIM:234580
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii
Areas of hypopigmentation and hyperpigmentation that do not follow Blaschko lines, Disproportiona... OMIM:210720
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Secondary amenorrhea, Increased adipose tissue around the neck, Increased facial adipose tissue, ... ORPHA:280365
X-Linked Dominant Chondrodysplasia Punctata
Low-set ears, Cataract, Microcornea, Sparse eyebrow, Coarse hair, Downslanted palpebral fissures,... ORPHA:35173
Amelogenesis Imperfecta, Hypomaturation Type, Iia2
Amelogenesis imperfecta, Anterior open-bite malocclusion, Yellow-brown discoloration of the teeth... OMIM:612529
Hypotrichosis 9
Sparse eyebrow, Sparse body hair, Abnormal eyelash morphology, Abnormality of the nail, Sparse sc... OMIM:614237
Leukoencephalopathy-Palmoplantar Keratoderma Syndrome
Unsteady gait, Tip-toe gait, Decreased number of peripheral myelinated nerve fibers ORPHA:2386
Amelogenesis Imperfecta, Type Iiic
Amelogenesis imperfecta, Yellow-brown discoloration of the teeth, Anterior open-bite malocclusion... OMIM:618386
Arrhythmogenic Cardiomyopathy With Variable Ectodermal Abnormalities
High anterior hairline, Dry hair, Cleft lip, Coarse hair, Palmoplantar keratoderma, Failure to th... OMIM:620519
Giant Axonal Neuropathy 2, Autosomal Dominant
Peripheral axonal neuropathy, Steppage gait, Onion bulb formation OMIM:610100
Charcot-Marie-Tooth Disease, Dominant Intermediate D
Segmental peripheral demyelination/remyelination, Axonal degeneration/regeneration OMIM:607791
Hallermann-Streiff Syndrome
Low-set ears, Natal tooth, Dry skin, Dermal atrophy, Micrognathia, Narrow mouth, Cryptorchidism, ... OMIM:234100
Hypotrichosis 14
Sparse pubic hair, Sparse body hair, Absent axillary hair, Sparse hair, Short eyelashes OMIM:618275
Wiedemann-Rautenstrauch Syndrome
Low-set ears, Natal tooth, Small nail, Dry skin, Micrognathia, Narrow mouth, Reduced subcutaneous... OMIM:264090
Autosomal Recessive Cerebellar Ataxia-Psychomotor Delay Syndrome
Cerebellar atrophy, Limb ataxia, Gait disturbance, Ataxia, Truncal ataxia, Unsteady gait ORPHA:284271
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly
Low-set ears, Sparse eyebrow, Long philtrum, Thick lower lip vermilion, Downslanted palpebral fis... OMIM:620075
Mandibuloacral Dysplasia With Type B Lipodystrophy
Abnormality of the dentition, Alopecia, Abnormal hair morphology, Generalized lipodystrophy, Derm... ORPHA:90154
Ohdo Syndrome
Sparse eyebrow, Hearing impairment, Long philtrum, Widely spaced teeth, Micrognathia, Narrow mout... OMIM:249620
Noonan Syndrome 6
Low-set ears, Webbed neck, Growth delay, Juvenile myelomonocytic leukemia, Downslanted palpebral ... OMIM:613224
Cardiofaciocutaneous Syndrome 4
Cataract, Decreased response to growth hormone stimulation test, Multiple lentigines, Telecanthus... OMIM:615280
Charcot-Marie-Tooth Disease, Dominant Intermediate C
Difficulty walking, Axonal regeneration, Onion bulb formation OMIM:608323
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies
Low-set ears, Short palpebral fissure, Hearing impairment, Long philtrum, Upslanted palpebral fis... OMIM:617763
Intellectual Developmental Disorder, X-Linked 9
Macrotia OMIM:309549
Thrombocytopenia 11 With Multiple Congenital Anomalies And Dysmorphic Facies
Low-set ears, Recurrent otitis media, Lymphopenia, Pancytopenia, Micrognathia, Open mouth, Dry sk... OMIM:620654
Spinocerebellar Ataxia 49
Cerebellar atrophy, Sensory axonal neuropathy, Dysmetria, Loss of ambulation, Ataxia, Unsteady ga... OMIM:619806
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Low-set ears, Hepatosplenomegaly, Micrognathia, Frontal upsweep of hair, Epicanthus, High palate,... OMIM:266920
46,Xy Gonadal Dysgenesis With Minifascicular Neuropathy
Primary amenorrhea, Hypergonadotropic hypogonadism, Decreased number of peripheral myelinated ner... OMIM:607080
Oculomaxillofacial Dysostosis
Abnormality of the dentition, Camptodactyly of finger, Aplasia/Hypoplasia of the eyebrow, Microgn... ORPHA:1794
X-Linked Hypohidrotic Ectodermal Dysplasia
Everted upper lip vermilion, Delayed eruption of teeth, Sparse body hair, Microdontia, Everted lo... ORPHA:181
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome
Supernumerary nipple, Micrognathia, Sparse eyelashes, Sparse hair, Non-midline cleft of the upper... ORPHA:1071
Lacrimoauriculodentodigital Syndrome 3
Carious teeth, Lacrimal duct aplasia, Hearing impairment, Cupped ear, Widely spaced teeth, Absent... OMIM:620193
Cardiofaciocutaneous Syndrome
Dry skin, Cryptorchidism, Excessive wrinkled skin, Low posterior hairline, Epicanthus, Brittle ha... ORPHA:1340
Paraparetic Variant Of Guillain-Barré Syndrome
Peripheral axonal neuropathy, Peripheral demyelination ORPHA:231445
Charcot-Marie-Tooth Disease, Type 4J
Axonal loss, Gait disturbance, Onion bulb formation, Peripheral hypomyelination OMIM:611228
Seckel Syndrome 5
Low-set ears, Retrognathia, Selective tooth agenesis, Downslanted palpebral fissures, Micrognathi... OMIM:613823
Dental Anomalies And Short Stature
Hypoplasia of the maxilla, Widely spaced teeth, Hypertrichosis, Oligodontia, Microdontia, Ameloge... OMIM:601216
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Low-set ears, Small nail, Hearing impairment, Cryptorchidism, Downslanted palpebral fissures, Lar... OMIM:301056
Moynahan Syndrome
Hypogonadism, Alopecia, Sparse hair ORPHA:2574
Spinocerebellar Ataxia 32
Cerebellar atrophy, Azoospermia, Ataxia, Testicular atrophy, Infertility OMIM:613909
Osteopenia-Intellectual Disability-Sparse Hair Syndrome
Low-set ears, High-frequency sensorineural hearing impairment, Fine hair, Postnatal growth retard... ORPHA:2324
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Optic atrophy, Axonal degeneration/regeneration, Decreased number of peripheral myelinated nerve ... OMIM:609260
Borjeson-Forssman-Lehmann Syndrome
Cataract, Hearing impairment, Hypogonadism, Decreased testicular size, Large earlobe, Thick eyebr... ORPHA:127
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Cerebellar atrophy, Limb ataxia, Gait ataxia, Axonal degeneration, Loss of ambulation, Peripheral... OMIM:208920
Localized Dystrophic Epidermolysis Bullosa, Acral Form
Erythema, Dystrophic toenail, Dermal atrophy, Milia, Erythematous plaque, Dystrophic fingernails,... ORPHA:158673