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Gene: Inhba MGI:96570

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Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
inhibin beta-A
Synonyms:
activin beta-A

Order Alleles

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No 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.

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.

Phenotype associated images not available

Human diseases caused by Inhba 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.

No human diseases associated to this gene by orthology or annotation.

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Cleft Lip/Palate
Agenesis of lateral incisor, Bilateral cleft palate, Oral-pharyngeal dysphagia, Hypoplasia of the... ORPHA:199306
Oligodontia
Orofacial cleft, Oligodontia, Agenesis of mandibular premolar, Widely spaced teeth, Microdontia, ... ORPHA:99798
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Small for gestational age, Hypoglycemia, Onychauxis, Precocious puberty, Insulin-resistant diabet... OMIM:262190
Androgen Insensitivity Syndrome
Absent facial hair, Elevated circulating luteinizing hormone level, Sparse axillary hair, Sparse ... OMIM:300068
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Hypogonadotropic hypogonadism, Sparse axillary hair, Sparse pubic hair, Decreased circulating dih... OMIM:228300
Partial Androgen Insensitivity Syndrome
Bifid scrotum, Fused labia majora, Bilateral cryptorchidism, Blind vagina, Increased circulating ... ORPHA:90797
Premature Ovarian Failure 7
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Secondary amenor... OMIM:612964
46,Xy Partial Gonadal Dysgenesis
Hypoplasia of the vagina, Hypoplasia of penis, Vanishing testis, Decreased serum estradiol, Micro... ORPHA:251510
Tooth Agenesis, Selective, X-Linked, 1
Agenesis of lateral incisor, Aplasia of the maxilla, Selective tooth agenesis, Agenesis of premol... OMIM:313500
Xq27.3Q28 Duplication Syndrome
Cryptorchidism, Deeply set eye, Truncal obesity, Hypogonadism, Sparse body hair, Failure to thriv... ORPHA:261483
Tricho-Dento-Osseous Syndrome
Abnormal hair quantity, Dental enamel pits, Periapical tooth abscess, Enamel hypomineralization, ... ORPHA:3352
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Decreased circulating cortisol level, Neonatal hypoglycemia, Renal salt wasting, Ambiguous genita... ORPHA:90791
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Bifid scrotum, Decreased circulating cortisol level, Bilateral cryptorchidism, Absent pubic hair,... ORPHA:90793
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Decreased circulating cortisol level, Premature thelarche, Renal salt wasting, Ambiguous genitali... ORPHA:90795
46,Xy Sex Reversal 6
Hypospadias, Sparse axillary hair, Hirsutism, Sex reversal, Gonadal dysgenesis, Chordee, Dysgermi... OMIM:613762
Donohue Syndrome
Precocious puberty, Long penis, Hyperinsulinemia, Ovarian cyst, Proptosis, Pancreatic islet-cell ... OMIM:246200
Moynahan Syndrome
Sparse hair, Alopecia, Hypogonadism, Cachexia ORPHA:2574
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Hypoplasia of the vagina, Dysmenorrhea, Decreased serum estradiol, Decreased circulating androgen... ORPHA:90796
46,Xy Sex Reversal 11
Abnormal internal genitalia, Elevated circulating luteinizing hormone level, Absence of pubertal ... OMIM:273250
Carabelli Anomaly Of Maxillary Molar Teeth
Shovel-shaped maxillary central incisors, Abnormality of molar, Abnormality of the dentition OMIM:114700
Syndromic X-Linked Intellectual Disability 7
Hypoplasia of penis, Cryptorchidism, Obesity, Hypogonadism, Micropenis, Sparse body hair ORPHA:85274
Chromosome Xq27.3-Q28 Duplication Syndrome
Decreased testicular size, Small for gestational age, Cryptorchidism, Increased circulating gonad... OMIM:300869
46,Xy Sex Reversal 3
Penoscrotal hypospadias, Elevated circulating luteinizing hormone level, Hypoplasia of the uterus... OMIM:612965
Ovarian Dysgenesis 9
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Primary amenorrh... OMIM:619665
Trichothiodystrophy 2, Photosensitive
Coarse hair, Tiger tail banding, Agenesis of maxillary lateral incisor OMIM:616390
Spermatogenic Failure 77
Male infertility, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Abnormal circulati... OMIM:620103
Hypotrichosis 1
Sparse eyelashes, Sparse axillary hair, Sparse pubic hair, Sparse eyebrow, Abnormality of the nai... OMIM:605389
Oliver-Mcfarlane Syndrome
Alopecia, Hypoplasia of penis, Hypogonadotropic hypogonadism, Decreased response to growth hormon... OMIM:275400
Tetragametic Chimerism
Bifid scrotum, Blood group antigen abnormality, True hermaphroditism, Ovotestis, Cryptorchidism, ... ORPHA:199310
Crandall Syndrome
Alopecia, Brittle hair, Hypoplasia of penis, Fine hair, Hypogonadism, Sparse body hair, Abnormal ... ORPHA:202
Ovarian Dysgenesis 10
Streak ovary, Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Pr... OMIM:619834
Premature Ovarian Failure 10
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Primary amenorrh... OMIM:612885
Spermatogenic Failure 28
Male infertility, Elevated circulating luteinizing hormone level, Non-obstructive azoospermia, El... OMIM:618086
Orofacial Cleft 15
Agenesis of lateral incisor, Bilateral cleft palate, Sparse eyelashes, Bilateral cleft lip, Spars... OMIM:616788
Ovarian Dysgenesis 7
Elevated circulating luteinizing hormone level, Primary amenorrhea, Hypoplasia of the uterus, Dec... OMIM:618117
Congenital Generalized Lipodystrophy
Overgrowth of external genitalia, Diabetes mellitus, Precocious puberty in females, Insulin resis... ORPHA:528
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome
Eunuchoid habitus, Elevated circulating luteinizing hormone level, Sparse pubic hair, Deeply set ... ORPHA:3044
Premature Ovarian Failure 18
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Irregular menstr... OMIM:619203
46,Xy Sex Reversal 1
Abnormality of male external genitalia, Hypergonadotropic hypogonadism, Elevated circulating lute... OMIM:400044
Premature Ovarian Failure 8
Streak ovary, Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Pr... OMIM:615723
Ovarian Dysgenesis 8
Eunuchoid habitus, Elevated circulating luteinizing hormone level, Primary amenorrhea, Hypoplasti... OMIM:618187
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Absent pubic hair, Decreased c... OMIM:614841
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome
Alopecia, Small for gestational age, Decreased response to growth hormone stimulation test, Crypt... ORPHA:3363
Ring Chromosome Y Syndrome
Bifid scrotum, Male infertility, Ambiguous genitalia, Streak ovary, Hypospadias, Unilateral crypt... ORPHA:261529
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Elevated c... OMIM:300845
X-Linked Intellectual Disability, Cilliers Type
Hypergonadotropic hypogonadism, Hypospadias, Cryptorchidism, Increased circulating gonadotropin l... ORPHA:163971
Orofacial Cleft 13
Cleft soft palate, Micrognathia, Oligodontia, Malar flattening, Retrognathia OMIM:613857
Witkop Syndrome
Ridged nail, Concave nail, Nail pits, Fine hair, Small nail, Sparse hair OMIM:189500
Complete Androgen Insensitivity Syndrome
Male infertility, Abnormal uterine cervix morphology, Sparse axillary hair, Elevated circulating ... ORPHA:99429
Incisors, Lower Central, Absence Of
Agenesis of mandibular central incisor OMIM:147330
Central Incisors, Absence Of
Agenesis of central incisor OMIM:302400
Hypogonadism-Cataract Syndrome
Male hypogonadism, Hypogonadism, Elevated circulating follicle stimulating hormone level, Inferti... OMIM:240950
Hypogonadotropic Hypogonadism 7 With Or Without Anosmia
Hypogonadotropic hypogonadism, Sparse axillary hair, Sparse pubic hair, Cryptorchidism, Primary a... OMIM:146110
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Decreased circulating cortisol level, Adrenal hypoplasia, Renal salt wasting, Neonatal hypoglycem... ORPHA:168558
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasia, Renal salt wasti... ORPHA:289548
Muscle Hypertrophy
Skeletal muscle hypertrophy OMIM:614160
Ovarian Dysgenesis 5
Elevated circulating luteinizing hormone level, Primary amenorrhea, Hypoplasia of the uterus, Dec... OMIM:617690
Short Stature Due To Ghsr Deficiency
Decreased serum insulin-like growth factor 1, Hypoglycemia, Abnormality of body weight, Decreased... ORPHA:314811
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Non-obstructive azoospermia, Increased circulating gonadotropin level, Abnormal spermatogenesis, ... ORPHA:399805
Premature Ovarian Failure 21
Streak ovary, Precocious puberty in females, Secondary amenorrhea, Primary amenorrhea, Decreased ... OMIM:620311
Perrault Syndrome 3
Streak ovary, Hypergonadotropic hypogonadism, Elevated circulating luteinizing hormone level, Pri... OMIM:614129
Hypotrichosis Simplex
Sparse scalp hair, Alopecia, Sparse eyelashes, Sparse eyebrow, Sparse hair, Sparse body hair ORPHA:55654
Premature Ovarian Failure 6
Premature ovarian insufficiency, Streak ovary, Elevated circulating luteinizing hormone level, Fe... OMIM:612310
Post-Traumatic Pituitary Deficiency
Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Hypoglycemi... ORPHA:95619
Spermatogenic Failure 75
Non-obstructive azoospermia, Elevated circulating follicle stimulating hormone level, Male infert... OMIM:619949
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Fused labia majora, Decreased circulating cortisol level, Neonatal hypoglycemia, Renal salt wasti... ORPHA:90794
Hypotrichosis 4
Sparse scalp hair, Alopecia, Sparse eyelashes, Sparse eyebrow, Uncombable hair, Sparse body hair OMIM:146550
Spermatogenic Failure, X-Linked, 4
Male infertility, Elevated circulating luteinizing hormone level, Abnormal prolactin level, Azoos... OMIM:301077
Florid Cemento-Osseous Dysplasia
Jaw swelling, Mandibular osteomyelitis, Supernumerary tooth, Dental malocclusion, Abnormal mandib... ORPHA:83451
Spermatogenic Failure 14
Male infertility, Abnormal circulating testosterone concentration, Azoospermia, Abnormal prolacti... OMIM:615842
Hypotrichosis 11
Sparse or absent eyelashes, Alopecia universalis, Absent axillary hair, Sparse hair, Aplasia/Hypo... OMIM:615059
Premature Ovarian Failure 17
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Decreased inhibi... OMIM:619146
46,Xx Sex Reversal 4
Fused labia majora, Penoscrotal hypospadias, Ovotestis, Gonadal dysgenesis, Retractile testis, Am... OMIM:617480
Ovarian Dysgenesis 4
Decreased serum estradiol, Elevated circulating follicle stimulating hormone level, Primary ameno... OMIM:616185
Diencephalic Syndrome
Cachexia, Long penis, Hyperhidrosis, Decreased body weight, Abnormality of the hypothalamus-pitui... ORPHA:1672
Rabson-Mendenhall Syndrome
Onychauxis, Fasting hyperinsulinemia, Low anterior hairline, Premature graying of hair, Nephrocal... ORPHA:769
Pierre Robin Syndrome And Oligodactyly
Pierre-Robin sequence, Cleft palate, Micrognathia OMIM:172880
Premature Ovarian Failure 9
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Hypoplasia of th... OMIM:615724
Normosmic Congenital Hypogonadotropic Hypogonadism
Male hypogonadism, Micropenis, Hypogonadotropic hypogonadism, Hypertelorism, Cryptorchidism, Abse... ORPHA:432
Parc Syndrome
Microretrognathia, Absent eyebrow, Alopecia, Absent eyelashes, Cleft palate OMIM:600331
46,Xx Sex Reversal 1
True hermaphroditism, Hypospadias, Elevated circulating luteinizing hormone level, Ovotestis, Sex... OMIM:400045
Incisors, Shovel-Shaped
Shovel-shaped maxillary central incisors OMIM:147400
Cleft Palate, Isolated
Micrognathia, Gingival overgrowth, Cleft palate, Anterior open-bite malocclusion, Increased overbite OMIM:119540
W Syndrome
Submucous cleft hard palate, Agenesis of maxillary central incisor, Abnormality of the scalp hair... ORPHA:2804
Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome
Abnormal thumb morphology, Obesity, Type A brachydactyly, Abnormal metacarpal morphology ORPHA:1078
Odonto-Onycho Dysplasia-Alopecia Syndrome
Alopecia, Abnormal fingernail morphology, Hypoplastic toenails, Sparse eyebrow, Sparse hair, Spar... ORPHA:2722
Endocardial Fibroelastosis
Cryptorchidism, Anterior hypopituitarism, Hypoplasia of penis, Hypoglycemia ORPHA:2022
Leukomelanoderma, Infantilism, Mental Retardation, Hypodontia, Hypotrichosis
Sparse hair OMIM:246500
Epidermolysis Bullosa With Diaphragmatic Hernia
Congenital diaphragmatic hernia OMIM:226735
Hypotrichosis 9
Sparse scalp hair, Sparse body hair OMIM:614237
Precocious Puberty, Central, 1
Elevated circulating luteinizing hormone level, Hypothyroidism, Elevated circulating follicle sti... OMIM:176400
Aarskog-Scott Syndrome
Elevated circulating luteinizing hormone level, Hypertelorism, Bilateral cryptorchidism, Cryptorc... OMIM:305400
Leprechaunism
Nephrocalcinosis, Increased circulating renin level, Recurrent infantile hypoglycemia, Fasting hy... ORPHA:508
Leydig Cell Hypoplasia
Hypoplasia of the Leydig cells, Male hypogonadism, Micropenis, Abnormal internal genitalia, Hypos... ORPHA:755
Hypotrichosis 10
Sparse eyebrow, Sparse eyelashes, Sparse body hair OMIM:614238
Obesity Due To Congenital Leptin Deficiency
Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse... ORPHA:66628
Pseudohermaphroditism, Female, With Skeletal Anomalies
Ambiguous genitalia, Clitoral hypertrophy, Primary amenorrhea OMIM:264270
Rothmund-Thomson Syndrome, Type 1
Absent eyebrow, Premature ovarian insufficiency, Thin nail, Absent eyelashes, Nail dystrophy, Spa... OMIM:618625
Diaphragmatic Hernia, Congenital
Congenital diaphragmatic hernia OMIM:142340
Diaphragmatic Hernia 3
Congenital diaphragmatic hernia OMIM:610187
Hyperinsulinemic Hypoglycemia, Familial, 2
Hypoglycemia, Large for gestational age, Nesidioblastosis, Pancreatic islet-cell hyperplasia, Hyp... OMIM:601820
Dentin Dysplasia, Type I
Pulp obliteration, Periapical bone loss, Oligodontia, Taurodontia, Short dental root, Microdontia... OMIM:125400
Tooth Agenesis, Selective, 3
Oligodontia of primary teeth, Agenesis of permanent molar, Abnormal hair morphology, Oligodontia,... OMIM:604625
49,Xxxyy Syndrome
Eunuchoid habitus, External genital hypoplasia, Abnormality of the testis size, Hypertelorism, In... ORPHA:261534
Premature Ovarian Failure 13
Female infertility, Hypoplasia of the uterus, Elevated circulating follicle stimulating hormone l... OMIM:617442
X-Linked Intellectual Disability, Van Esch Type
Hypergonadotropic hypogonadism, Cryptorchidism, Increased circulating gonadotropin level, Absence... ORPHA:163976
Obesity Due To Leptin Receptor Gene Deficiency
Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse... ORPHA:179494
Premature Ovarian Failure 16
Reduced antral follicle count, Premature ovarian insufficiency, Decreased serum estradiol, Elevat... OMIM:618723
Maturity-Onset Diabetes Of The Young, Type 11
Overweight, Obesity OMIM:613375
Isolated Follicle Stimulating Hormone Deficiency
Hyperplasia of the Leydig cells, Decreased serum testosterone concentration, Decreased female lib... ORPHA:52901
Rubinstein-Taybi Syndrome 2
Hyperactivity, Intestinal malrotation, Highly arched eyebrow, Micrognathia, Carious teeth, Talon ... OMIM:613684
Functioning Gonadotropic Adenoma
Decreased response to growth hormone stimulation test, Pituitary gonadotropic cell adenoma, Isose... ORPHA:91348
Mohr Syndrome
Median cleft lip, Accessory oral frenulum, Micrognathia, Hypoplasia of the maxilla, Cleft palate,... OMIM:252100
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Streak ovary, Abnormality of female external genitalia, Increased circulating gonadotropin level,... ORPHA:168563
Atrichia With Papular Lesions
Sparse hair OMIM:209500
Ovarian Dysgenesis 2
Streak ovary, Hypergonadotropic hypogonadism, Premature ovarian insufficiency, Secondary amenorrh... OMIM:300510
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome
Decreased testicular size, Eunuchoid habitus, Hypoplasia of penis, Small scrotum, Abnormality of ... ORPHA:2234
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Tented upper lip vermilion, Exaggerated cupid's bow, Abnormality of canine, Synophrys, Pierre-Rob... ORPHA:364577
Maternal Uniparental Disomy Of Chromosome 6
Thrombocytopenia, Hydrocele testis, Increased serum testosterone level, Congenital adrenal hyperp... ORPHA:96181
Short Stature Due To Partial Ghr Deficiency
Decreased serum insulin-like growth factor 1, Hypoglycemia, Delayed puberty ORPHA:314802
46,Xx Gonadal Dysgenesis
Streak ovary, Premature ovarian insufficiency, Sparse pubic hair, Increased circulating gonadotro... ORPHA:243
Ectodermal Dysplasia 6, Hair/Nail Type
Sparse hair, Alopecia, Thin toenail, Dystrophic toenail OMIM:614928
Female Infertility Due To Oocyte Meiotic Arrest
Female infertility, Polycystic ovaries, Abnormal spermatogenesis, Oocyte arrest at metaphase I, A... ORPHA:488191
Renpenning Syndrome
Abnormal hairshaft morphology, Alopecia, Diabetes mellitus, Hypospadias, Cachexia, Thin eyebrow, ... ORPHA:3242
Methemoglobinemia And Ambiguous Genitalia
Bifid scrotum, Hypospadias, Scrotal hypospadias, Elevated circulating luteinizing hormone level, ... OMIM:250790
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Elevated circulating thyroid-stimulating hormone concentration, Obesity, Abnormal circulating ins... ORPHA:171706
Premature Ovarian Failure 15
Irregular menstruation, Secondary amenorrhea, Elevated circulating follicle stimulating hormone l... OMIM:618096
Bent Bone Dysplasia Syndrome 1
Hypertelorism, Clitoral hypertrophy, Hirsutism, Hepatosplenomegaly OMIM:614592
Cerebellar Ataxia-Ectodermal Dysplasia Syndrome
Sparse hair, Cryptorchidism, Fine hair ORPHA:1174
Mcdonough Syndrome
Cryptorchidism, Synophrys, Cachexia, Hypertelorism ORPHA:2471
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Hypoplasia of the vagina, Clitoral hypertrophy, Congenital adrenal hyperplasia, Decreased circula... OMIM:202010
Wilson-Turner Syndrome
Hypogonadotropic hypogonadism, Cryptorchidism, Deeply set eye, Truncal obesity, Thick eyebrow ORPHA:3459
Transaldolase Deficiency
Pancytopenia, Clitoral hypertrophy, Small for gestational age, Splenomegaly, Synophrys, Hepatospl... OMIM:606003
Orofaciodigital Syndrome Type 2
Natal tooth, Median cleft lip, Thick hair, Hamartoma of tongue, Micrognathia, Submucous cleft sof... ORPHA:2751
Ringed Hair Disease
Abnormal hair pattern, Fine hair ORPHA:169
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Hypospadias, External genital hypoplasia, Ovotestis, Nail dystrophy, Small nail, Palmoplantar hyp... OMIM:610644
Hernia, Anterior Diaphragmatic
Congenital diaphragmatic hernia OMIM:306950
Polyendocrine-Polyneuropathy Syndrome
Decreased testicular size, Alopecia, Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia... ORPHA:453533
Borjeson-Forssman-Lehmann Syndrome
Cryptorchidism, Obesity, Hypoplasia of the prostate, Deeply set eye, Delayed puberty, Micropenis OMIM:301900
Pili Bifurcati
Abnormal hair morphology, Abnormality of hair texture ORPHA:720
Ichthyosis-Hypotrichosis Syndrome
Sparse hair ORPHA:91132
Myofibrillar Myopathy 11
Centrally nucleated skeletal muscle fibers, Overweight, Z-band streaming, Calf muscle hypertrophy... OMIM:619178
Hypogonadotropic Hypogonadism 25 With Anosmia
Hypothalamic gonadotropin-releasing hormone deficiency, Cryptorchidism, Primary amenorrhea, Micro... OMIM:618841
Genitopatellar Syndrome
Sparse scalp hair, Multicystic kidney dysplasia, Small scrotum, Hypertelorism, Cryptorchidism, Fi... ORPHA:85201
Hypergonadotropic Hypogonadism And Partial Alopecia
Alopecia, Streak ovary, Hypergonadotropic hypogonadism OMIM:241090
Oocyte/Zygote/Embryo Maturation Arrest 9
Oocyte arrest at metaphase I, Female infertility OMIM:619011
Cornelia De Lange Syndrome 5
Highly arched eyebrow, Hypertelorism, Cryptorchidism, Synophrys, Low anterior hairline, Deeply se... OMIM:300882
Non-Functioning Pituitary Adenoma
Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio... ORPHA:91349
Amelogenesis Imperfecta
Abnormality of dental color, Fragile teeth, Hypomature dental enamel, Enamel hypomineralization, ... ORPHA:88661
Intellectual Disability, Birk-Barel Type
Hyperactivity, Tented upper lip vermilion, Highly arched eyebrow, Micrognathia, High, narrow pala... ORPHA:166108
Ovarian Dysgenesis 3
Female infertility, Elevated circulating luteinizing hormone level, Primary amenorrhea, Elevated ... OMIM:614324
Mehmo Syndrome
Small for gestational age, Decreased response to growth hormone stimulation test, Hypoglycemia, O... OMIM:300148
Premature Ovarian Failure 14
Primary amenorrhea, Decreased serum estradiol, Elevated circulating follicle stimulating hormone ... OMIM:618014
Bardet-Biedl Syndrome 7
Deeply set eye, Hypogonadism, Obesity, Hypertelorism OMIM:615984
Hypotrichosis, Congenital, With Juvenile Macular Dystrophy
Sparse hair, Reduced terminal:vellus ratio, Pili torti OMIM:601553
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Non-obstructive azoospermia, Increased circulating gonadotropin level, Abnormal sperm tail morpho... ORPHA:399808
Hidrotic Ectodermal Dysplasia
Absent eyebrow, Alopecia, Hypopigmentation of hair, Sparse eyelashes, Brittle scalp hair, Sparse ... ORPHA:189
Uncombable Hair Syndrome 2
Uncombable hair, Pili canaliculi OMIM:617251
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome
Mandibular prognathia, Micrognathia, Submucous cleft hard palate, Cleft palate, Retrognathia, Bif... ORPHA:2521
Regional Odontodysplasia
Dental enamel pits, Abnormality of dental color, Gingivitis, Eruption failure, Abnormal dental pu... ORPHA:83450
Osteopenia And Sparse Hair
Sparse hair OMIM:259690
Cleft Palate-Lateral Synechia Syndrome
Micrognathia, Cleft palate, Everted lower lip vermilion, Narrow mouth, Oral synechia ORPHA:2016
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Hypothalamic gonadotropin-releasing hormone deficiency, Eunuchoid habitus, Small scrotum, Hypogon... OMIM:308700
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia
Elevated circulating luteinizing hormone level, Primary amenorrhea, Decreased circulating follicl... OMIM:229070
Pili Torti-Developmental Delay-Neurological Abnormalities Syndrome
Sparse or absent eyelashes, Pili torti, Aplasia/Hypoplasia of the eyebrow, Abnormality of hair te... ORPHA:2891
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Hypoglycemia, Large for gestational age, Obesity, Truncal obesity, Fasting hypoglycemia, Hypoinsu... OMIM:240900
Warburg Micro Syndrome 1
External genital hypoplasia, Cryptorchidism, Deeply set eye, Facial hypertrichosis, Failure to th... OMIM:600118
Alopecia, Congenital
Sparse hair, Alopecia OMIM:300042
Ectodermal Dysplasia 9, Hair/Nail Type
Concave nail, Absent eyelashes, Atrichia, Nail dystrophy, Nail dysplasia, Sparse hair, Absent hair OMIM:614931
Kallmann Syndrome With Spastic Paraplegia
Hypothalamic gonadotropin-releasing hormone deficiency, Eunuchoid habitus, Hypogonadotropic hypog... OMIM:308750
Familial Peripheral Male-Limited Precocious Puberty
Male infertility, Precocious puberty, Abnormal hair morphology, Long penis, Oligozoospermia, Macr... ORPHA:3000
Aica-Ribosiduria
Fused labia minora, Clitoral hypertrophy ORPHA:250977
Borjeson-Forssman-Lehmann Syndrome
Hypoplasia of penis, Small scrotum, Cryptorchidism, Deeply set eye, Truncal obesity, Hypogonadism... ORPHA:127
Cleft Velum
Hypoplasia of the maxilla, Velopharyngeal insufficiency, Cleft soft palate, Oral-pharyngeal dysph... ORPHA:99772
Tricho-Retino-Dento-Digital Syndrome
Abnormality of the dentition, Supernumerary tooth, Oligodontia, Sparse hair, Uncombable hair ORPHA:1264
Bardet-Biedl Syndrome 11
Polydactyly, Obesity OMIM:615988
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Hypertelor... ORPHA:280679
Liang-Wang Syndrome
Thin upper lip vermilion, Diastema, Synophrys, Gingival overgrowth, Downturned corners of mouth, ... OMIM:618729
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Sparse facial hair, Decreased serum estradiol, Aplasia of the ovary, Aplasia/hypoplasia of the ut... ORPHA:2232
Cleft Palate, Deafness, And Oligodontia
No permanent dentition, Oligodontia of primary teeth, Cleft soft palate OMIM:216300
19Q13.11 Microdeletion Syndrome
Bifid scrotum, Hypospadias, Supernumerary nipple, Cachexia, Cryptorchidism, Fine hair, Sparse or ... ORPHA:217346
Isolated Growth Hormone Deficiency, Type Ia
Decreased serum insulin-like growth factor 1, Reduced circulating growth hormone concentration, H... OMIM:262400
Silver-Russell Syndrome Due To 7P11.2P13 Microduplication
Small for gestational age, Hypoglycemia, Hyperhidrosis, Fine hair, Long eyelashes, Labial hypopla... ORPHA:231137
Pseudovaginal Perineoscrotal Hypospadias
Bifid scrotum, Abnormal hair morphology, Cryptorchidism, Abnormality of the endocrine system, Per... OMIM:264600
Intellectual Developmental Disorder, X-Linked 90
Malar flattening, High palate, Bifid uvula, Attention deficit hyperactivity disorder OMIM:300850
2P21 Microdeletion Syndrome
Hypoglycemia, Nephrolithiasis, Cystinuria, Hypogonadism, Long eyelashes, Failure to thrive ORPHA:163693
Premature Ovarian Failure 2A
Secondary amenorrhea, Premature ovarian insufficiency, Elevated circulating follicle stimulating ... OMIM:300511
Bangstad Syndrome
Abnormality of the parathyroid gland, Hyperinsulinemia, Polycystic ovaries, Deeply set eye, Incre... ORPHA:1227
Myotonic Dystrophy 2
Frontal balding, Oligozoospermia, Hypogonadism, Type II diabetes mellitus, Elevated circulating f... OMIM:602668
Oocyte/Zygote/Embryo Maturation Arrest 4
Oocyte arrest at metaphase I, Female infertility OMIM:617743
Oocyte/Zygote/Embryo Maturation Arrest 2
Oocyte arrest at metaphase I, Female infertility OMIM:616780
Combined Oxidative Phosphorylation Deficiency 34
Pancytopenia, Hypergonadotropic hypogonadism, Hypoglycemia, Elevated circulating thyroid-stimulat... OMIM:617872
Oocyte/Zygote/Embryo Maturation Arrest 14
Oocyte maturation arrest, Female infertility OMIM:620276
Oocyte/Zygote/Embryo Maturation Arrest 5
Lack of oocyte pronucleus formation, Female infertility OMIM:617996
Filippi Syndrome
Hypertrichosis, Thin vermilion border, Short philtrum, Hypodontia, Dystonia, Sparse hair, Microdo... OMIM:272440
Premature Ovarian Failure 2B
Premature ovarian insufficiency, Primary amenorrhea, Female infertility, Delayed puberty OMIM:300604
Gonadoblastoma
Gonadal dysgenesis with female appearance, male, Hirsutism, Gonadal calcification, Dysgerminoma, ... ORPHA:206484
Leiomyoma Of Vulva And Esophagus
Clitoral hypertrophy OMIM:150700
Isolated Splenogonadal Fusion
Abnormal penis morphology, Unilateral cryptorchidism, Bilateral cryptorchidism, Increased circula... ORPHA:457083
Björnstad Syndrome
Alopecia, Brittle hair, Hypogonadism ORPHA:123
Myoectodermal Gonadal Dysgenesis Syndrome
Accessory spleen, Small for gestational age, Highly arched eyebrow, Elevated circulating luteiniz... OMIM:618419
Hypodontia-Dysplasia Of Nails Syndrome
Abnormal fingernail morphology, Hypoplastic toenails, Fine hair, Polycystic ovaries, Thin toenail... ORPHA:2228
Insulin Autoimmune Syndrome
Nonketotic hypoglycemia, Reactive hypoglycemia, Insulin-resistant diabetes mellitus, Insulin resi... ORPHA:411593
Palatopharyngeal Incompetence
Velopharyngeal insufficiency, Cleft palate OMIM:167500
Cystic Fibrosis-Gastritis-Megaloblastic Anemia Syndrome
Hypospadias, Hypertelorism, Abnormal erythrocyte morphology, Folate-unresponsive megaloblastic an... ORPHA:2575
Aica-Ribosuria Due To Atic Deficiency
Elevated urinary 5-amino-4-imidazolecarboxamide-riboside level, Clitoral hypertrophy, Hypoglycemi... OMIM:608688
Hydrocephalus-Obesity-Hypogonadism Syndrome
Hypergonadotropic hypogonadism, Sparse facial hair, Absent facial hair, Obesity, Low posterior ha... ORPHA:2183
Testicular Anomalies With Or Without Congenital Heart Disease
Corpus cavernosum hypoplasia, Abnormality of thyroid physiology, Cryptorchidism, Testicular dysge... OMIM:615542
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemia, Hyperinsulinemia, Hypoglycemic seizures, Pancreatic islet-cell hyperplasia, Hyperin... OMIM:610021
Difference Of Sex Development-Intellectual Disability Syndrome
Hypoplasia of penis, Small scrotum, Abnormal hair pattern, Synophrys, Low posterior hairline, Dee... ORPHA:2983
Chand Syndrome
Curly hair, Cleft palate, Agenesis of permanent teeth, Abnormal oral frenulum morphology, Agenesi... ORPHA:1401
Obesity
Increased waist to hip ratio, Obesity OMIM:601665
Contractures, Congenital, Torticollis, And Malignant Hyperthermia
Natal tooth, Torticollis, Abnormal mandible morphology, Cleft palate OMIM:217150
Woolly Hair, Autosomal Recessive 3
Sparse scalp hair, Curly hair, Sparse eyelashes, Fine hair, Sparse hair, Trichorrhexis nodosa OMIM:616760
Bardet-Biedl Syndrome 14
Polydactyly, Obesity OMIM:615991
Steroid Dehydrogenase Deficiency-Dental Anomalies Syndrome
Supernumerary tooth, Abnormal dental enamel morphology, Enamel hypoplasia ORPHA:3196
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Fused labia majora, Decreased circulating cortisol level, Adrenal hyperplasia, Decreased circulat... ORPHA:95699
Peroxisome Biogenesis Disorder 2A (Zellweger)
Hypertelorism, Cryptorchidism, Aminoaciduria, Hypoplasia of the thymus, Polycystic kidney dysplas... OMIM:214110
Seckel Syndrome 9
Small for gestational age, Agonadism, Ambiguous genitalia, Clitoral hypertrophy, Hypertrichosis OMIM:616777
Brachycephaly, Trichomegaly, And Developmental Delay
Brittle hair, Highly arched eyebrow, Synophrys, Supernumerary tooth, Submucous cleft hard palate,... OMIM:617412
Facial Palsy, Congenital, With Ptosis And Velopharyngeal Dysfunction
Velopharyngeal insufficiency, Dysphagia OMIM:617732
Premature Ovarian Failure 20
Secondary amenorrhea, Female infertility, Elevated circulating follicle stimulating hormone level... OMIM:619938
Leydig Cell Hypoplasia, Type I
Increased circulating gonadotropin level, Hypergonadotropic hypogonadism OMIM:238320
Frasier Syndrome
Renal insufficiency, Streak ovary, Hypergonadotropic hypogonadism, Proteinuria, Increased circula... ORPHA:347
Pituitary Hormone Deficiency, Combined, 2
Decreased thyroid-stimulating hormone level, Reduced circulating prolactin concentration, Neonata... OMIM:262600
Muscular Dystrophy, Congenital, 1B
Facial palsy, Achilles tendon contracture, Generalized muscle hypertrophy, Pectoralis amyotrophy,... OMIM:604801
Elsahy-Waters Syndrome
Mandibular prognathia, Delayed eruption of teeth, Anal stenosis, Thin upper lip vermilion, Hypopl... OMIM:211380
Megalencephaly
Macroorchidism, Deeply set eye, Long penis, Truncal obesity ORPHA:2477
Hyperinsulinism Due To Insr Deficiency
Hypoglycemia, Insulin resistance, Fasting hyperinsulinemia, Recurrent hypoglycemia, Hyperinsuline... ORPHA:263458
Bardet-Biedl Syndrome 13
Polydactyly, Obesity OMIM:615990
Orofaciodigital Syndrome Type 5
Median cleft lip, Aganglionic megacolon, Cleft soft palate, Accessory oral frenulum, Abnormality ... ORPHA:2919
Joubert Syndrome 37
Decreased testicular size, Hypertelorism, Cryptorchidism, Obesity, Deeply set eye, Sparse hair, M... OMIM:619185
Bardet-Biedl Syndrome
Medial flaring of the eyebrow, Hypoplasia of penis, Multicystic kidney dysplasia, Cryptorchidism,... ORPHA:110
Ovarian Dysgenesis 1
Gonadal dysgenesis, Increased circulating gonadotropin level, Primary amenorrhea OMIM:233300
Pituitary Stalk Interruption Syndrome
Ectopic posterior pituitary, Hypoplasia of penis, Failure to thrive, Hypoglycemia, Adrenal hypopl... ORPHA:95496
Acrokeratoderma, Hereditary Papulotranslucent
Fine hair OMIM:101840
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome
Fused labia minora, Ambiguous genitalia, female, Primary amenorrhea, Abnormality of the uterus, A... ORPHA:2975
Seckel Syndrome 5
Cryptorchidism, Hypospadias, Clitoral hypertrophy OMIM:613823
Meier-Gorlin Syndrome 3
Small scrotum, Hypospadias, Sparse axillary hair, Sparse pubic hair, Cryptorchidism, Hypoplastic ... OMIM:613803
Pierpont Syndrome
Hypertelorism, Cryptorchidism, Micropenis, Deeply set eye, Decreased body weight, High anterior h... OMIM:602342
Oocyte/Zygote/Embryo Maturation Arrest 13
Female infertility OMIM:620154
Oocyte/Zygote/Embryo Maturation Arrest 8
Female infertility OMIM:619009
Hypergonadotropic Hypogonadism-Cataract Syndrome
Hypergonadotropic hypogonadism, Increased circulating gonadotropin level, Absence of secondary se... ORPHA:2410
Premature Ovarian Failure 19
Secondary amenorrhea, Premature ovarian insufficiency, Irregular menstruation, Female infertility OMIM:619245
Lipodystrophy, Congenital Generalized, Type 2
Clitoral hypertrophy, Acute pancreatitis, Elevated hemoglobin A1c, Decreased serum leptin, Decrea... OMIM:269700
Rippling Muscle Disease 1
Skeletal muscle hypertrophy OMIM:600332
Premature Ovarian Failure 11
Elevated circulating follicle stimulating hormone level, Secondary amenorrhea, Oligomenorrhea OMIM:616946
Kdm5C-Related Syndromic X-Linked Intellectual Disability
Deeply set eye, Patchy alopecia, Decreased testicular size, Cryptorchidism ORPHA:85279
49,Xyyyy Syndrome
Eunuchoid habitus, External genital hypoplasia, Abnormality of the testis size, Hypertelorism, In... ORPHA:99330
Oocyte/Zygote/Embryo Maturation Arrest 12
Female infertility OMIM:619697
Chung-Jansen Syndrome
Hypertelorism, Cryptorchidism, Synophrys, Obesity, Deeply set eye, Thick eyebrow OMIM:617991
Silver-Russell Syndrome
Abnormality of male external genitalia, Hypospadias, Failure to thrive in infancy, Cachexia, Prec... ORPHA:813
Graham Little-Piccardi-Lassueur Syndrome
Sparse pubic hair, Sparse scalp hair, Alopecia, Sparse axillary hair ORPHA:505
Desmoplastic Small Round Cell Tumor
Neoplasm of the pancreas, Testicular neoplasm, Cachexia, Ovarian neoplasm, Weight loss, Anemia ORPHA:83469
Oocyte/Zygote/Embryo Maturation Arrest 10
Female infertility OMIM:619176
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Reduced ci... ORPHA:2235
Cronkhite-Canada Syndrome
Alopecia, Abnormal fingernail morphology, Cachexia, Hypoplastic toenails, Splenomegaly, Aplasia/H... ORPHA:2930
Basel-Vanagaite-Smirin-Yosef Syndrome
Hypospadias, Hypertelorism, Sparse hair, Hydronephrosis, Clitoral hypertrophy OMIM:616449
Satoyoshi Syndrome
Abnormal hair morphology, Nephrogenic diabetes insipidus, Hypoplasia of the uterus, Sparse or abs... ORPHA:3130
Triglyceride Storage Disease, Type Ii
Obesity OMIM:190430
Cortisone Reductase Deficiency 1
Alopecia, Precocious puberty, Infertility, Oligomenorrhea, Hirsutism OMIM:604931
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Decreased circulating cortisol level, Hypoglycemia, Renal salt wasting, Precocious puberty, Crypt... OMIM:614736
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 11
Hypoglycemia, Small for gestational age, External genital hypoplasia, Hyperhidrosis ORPHA:231147
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome
Renal insufficiency, Streak ovary, Hypospadias, Cryptorchidism, Obesity, Abnormality of the uteru... OMIM:194072
Estrogen Resistance Syndrome
Abnormality of the pubic hair, Enlarged polycystic ovaries, Increased circulating gonadotropin le... ORPHA:785
Cerebrooculofacioskeletal Syndrome 2
Small scrotum, Small for gestational age, Deeply set eye, Sparse hair, Micropenis OMIM:610756
Woolly Hair Nevus
Curly hair, Patchy hypopigmentation of hair, Precocious puberty, Fine hair, Woolly scalp hair, Co... ORPHA:79414
Congenital Glucokinase-Related Hyperinsulinism
Fasting hyperinsulinemia, Recurrent hypoglycemia, Type II diabetes mellitus, Hyperinsulinemic hyp... ORPHA:79299
46,Xy Sex Reversal 5
Sex reversal, Elevated circulating follicle stimulating hormone level OMIM:613080
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15
Small for gestational age, Abnormal external genitalia, Hypoglycemia, Hyperhidrosis, Decreased bo... ORPHA:231140
Hyperprolactinemia
Increased circulating prolactin concentration, Menorrhagia, Oligomenorrhea, Female infertility OMIM:615555
Impacted Teeth, Multiple
Supernumerary tooth, Multiple impacted teeth OMIM:308280
Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy
Alopecia, Onychogryposis of toenails, Alopecia of scalp, Sparse body hair, Dystrophic toenail OMIM:617294
Homozygous 11P15-P14 Deletion Syndrome
Hypoglycemia, Hyperinsulinemia, Generalized aminoaciduria, Renal tubular dysfunction, Failure to ... OMIM:606528
Myopathy, Centronuclear, 1
Proximal muscle weakness in upper limbs, Facial palsy, Centrally nucleated skeletal muscle fibers... OMIM:160150
Woolly Hair
Hypopigmentation of hair, Brittle hair, Slow-growing hair, Abnormality of hair texture, Fine hair... ORPHA:170
Amelogenesis Imperfecta, Type Ia
Dental enamel pits, Taurodontia, Generalized microdontia, Enamel hypoplasia, Amelogenesis imperfecta OMIM:104530
Lipodystrophy, Congenital Generalized, Type 1
Clitoral hypertrophy, Diabetes mellitus, Acute pancreatitis, Decreased serum leptin, Decreased fe... OMIM:608594
Gand Syndrome
Sparse hair, Deeply set eye, Hypertelorism OMIM:615074
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Elevated circulating growth hormone concentration, Enlarged polycystic ovaries, Insulin-resistant... ORPHA:90301
Pierpont Syndrome
Small for gestational age, Hypertelorism, Cryptorchidism, Deeply set eye, High anterior hairline ORPHA:487825
Zellweger Syndrome
Multicystic kidney dysplasia, Hypospadias, Cryptorchidism, Primary adrenal insufficiency, Failure... ORPHA:912
Birk-Barel Syndrome
Microretrognathia, Tented upper lip vermilion, Highly arched eyebrow, High palate, Long eyelashes... OMIM:612292
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
Abnormal eyelash morphology, Sparse scalp hair, Sparse body hair, Alopecia universalis ORPHA:1008
Trichodysplasia-Xeroderma Syndrome
Sparse scalp hair, Alopecia, Brittle hair, Sparse eyebrow, Sparse body hair, Coarse hair, Trichod... ORPHA:3361
Erythrokeratodermia Variabilis
Alopecia, Diabetes mellitus, Abnormal hair morphology, Weight loss, Abnormality of the nail, Abno... ORPHA:317
Perlman Syndrome
Hypoplasia of penis, Cryptorchidism, Abnormal pancreas morphology, Hyperinsulinemia, Deeply set eye ORPHA:2849
Congenital Velopharyngeal Incompetence
Velopharyngeal insufficiency, Abnormal palate morphology ORPHA:2291
Perrault Syndrome 4
Premature ovarian insufficiency, Increased circulating gonadotropin level, Obesity, Secondary ame... OMIM:615300
Pituitary Hormone Deficiency, Combined, 4
Hypothyroidism, Adrenal insufficiency, Impaired growth-hormone response to insulin stimulation te... OMIM:262700
Congenital Disorder Of Glycosylation, Type Iy
Deeply set eye, Failure to thrive, Hypospadias OMIM:300934
Holoprosencephaly 9
Hypoplasia of the premaxilla, Cleft upper lip, Hypoplasia of the maxilla, Agenesis of incisor, De... OMIM:610829
O'Donnell-Luria-Rodan Syndrome
Deeply set eye, Cryptorchidism OMIM:618512
Tooth Agenesis, Selective, 9
Microdontia, Taurodontia, Selective tooth agenesis OMIM:617275
Spermatogenic Failure, X-Linked, 1
Obesity OMIM:305700
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Bifid scrotum, Fused labia majora, Decreased circulating cortisol level, Small scrotum, Micropeni... OMIM:201750
Intellectual Developmental Disorder, Autosomal Dominant 21
Cleft palate, Thin vermilion border, Long eyelashes, Narrow mouth, Incisor macrodontia, Long phil... OMIM:615502
Duplication Of Urethra
Bifid scrotum, Urethral stricture, Anuria, Hypospadias, Urinary incontinence, Septate vagina, Dis... ORPHA:237
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome
Thick hair, Synophrys, Low posterior hairline, Deeply set eye, Thick eyebrow ORPHA:2429
Adducted Thumbs Syndrome
High, narrow palate, Velopharyngeal insufficiency, Cleft palate, High palate, Dysphagia, Hypertri... OMIM:201550
Forsythe-Wakeling Syndrome
Deeply set eye, Nephrotic syndrome, Thrombocytopenia, Decreased body weight OMIM:613606
Insulin-Resistance Syndrome Type B
Fasting hyperinsulinemia, Increased body weight, Leukopenia, Glucose intolerance, Fasting hypogly... ORPHA:2298
Ectodermal Dysplasia 4, Hair/Nail Type
Absent eyebrow, Alopecia, Brittle hair, Absent eyelashes, Onycholysis, Nail dystrophy, Sparse bod... OMIM:602032
Polyendocrine-Polyneuropathy Syndrome
Hypogonadotropic hypogonadism, Elevated hemoglobin A1c, Anterior pituitary hypoplasia, Hypoglycem... OMIM:616113
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type
Hypertelorism, Abnormal hair whorl, Synophrys, Increased body weight, Horseshoe kidney, Low poste... OMIM:300860
Williams-Beuren Region Duplication Syndrome
Small for gestational age, Decreased response to growth hormone stimulation test, Unilateral rena... OMIM:609757
Bachmann-Bupp Syndrome
Absent eyebrow, Sparse scalp hair, Sparse eyelashes, Hypoglycemia, Hypertelorism, Large for gesta... OMIM:619075
Hidrotic Ectodermal Dysplasia, Christianson-Fourie Type
Sparse scalp hair, Absent eyebrow, Sparse eyelashes, Sparse axillary hair, Abnormal hair morpholo... ORPHA:1808
Aredyld Syndrome
Cachexia, Splenomegaly, Abnormality of the ureter, Type II diabetes mellitus, Type I diabetes mel... ORPHA:1133
Hawkinsinuria
4-hydroxyphenylacetic aciduria, 4-Hydroxyphenylpyruvic aciduria, Fine hair, Sparse hair, Failure ... ORPHA:2118
Lessel-Kubisch Syndrome
Renal insufficiency, Sparse pubic hair, Renal hypoplasia, Premature graying of hair, Hypogonadism OMIM:618681
Alazami Syndrome
Deeply set eye, Retractile testis, Decreased body weight OMIM:615071
Hypogonadism, Male
Male hypogonadism, Micropenis, Testicular atrophy, Hypospadias OMIM:241100
Fgfr2-Related Bent Bone Dysplasia
Extramedullary hematopoiesis, Hypertelorism, Hirsutism, Hepatosplenomegaly, Clitoral hypertrophy ORPHA:313855
Hyperinsulinism Due To Hnf1A Deficiency
Small for gestational age, Ketotic hypoglycemia, Maturity-onset diabetes of the young, Maternal d... ORPHA:324575
Hydatidiform Mole, Recurrent, 3
Female infertility OMIM:618431
Hydatidiform Mole, Recurrent, 4
Female infertility OMIM:618432
Proximal 16P11.2 Microduplication Syndrome
Sparse eyelashes, Hypertelorism, Sparse eyebrow, Deeply set eye, Micropenis, Failure to thrive, D... ORPHA:370079
Oculocerebrofacial Syndrome, Kaufman Type
Absent eyebrow, Clitoral hypertrophy, Failure to thrive, Thin eyebrow ORPHA:2707
10Q22.3Q23.3 Microduplication Syndrome
Ambiguous genitalia, Deeply set eye, Hypospadias, Hypotelorism ORPHA:276422
Hypoglycemia, Leucine-Induced
Hypoglycemia, Hyperinsulinemic hypoglycemia OMIM:240800
Temple Syndrome
Small for gestational age, Decreased response to growth hormone stimulation test, Precocious pube... ORPHA:254516
Meier-Gorlin Syndrome 2
Hypoplastic labia majora, Labial hypoplasia, Failure to thrive, Breast hypoplasia, Clitoral hyper... OMIM:613800
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency
Failure to thrive, Hypoglycemia, Anemia OMIM:610090
Hypotrichosis 7
Sparse scalp hair, Brittle hair, Sparse eyelashes, Sparse axillary hair, Abnormal sweat gland mor... OMIM:604379
Flynn-Aird Syndrome
Alopecia, Cachexia, Abnormality of the thyroid gland, Primary adrenal insufficiency, Type II diab... ORPHA:2047
Nephrogenic Diabetes Insipidus-Intracranial Calcification-Short Stature-Facial Dysmorphism Syndrome
Carious teeth, Supernumerary tooth, Hypoplasia of the zygomatic bone, Micrognathia ORPHA:3145
Bjornstad Syndrome
Alopecia, Brittle hair, Dry hair, Coarse hair, Hypogonadism, Hair shafts flattened at irregular i... OMIM:262000
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 2
Skeletal muscle hypertrophy, Muscular dystrophy OMIM:613158
47,Xyy Syndrome
Male infertility, Hypospadias, Hypertelorism, Cryptorchidism, Increased circulating gonadotropin ... ORPHA:8
45,X/46,Xy Mixed Gonadal Dysgenesis
Bifid scrotum, Bilateral cryptorchidism, Epispadias, Ambiguous genitalia, female, Ambiguous genit... ORPHA:1772
Otodental Dysplasia
Delayed eruption of teeth, Agenesis of premolar, Tooth ankylosis, Pulp calcification, Taurodontia... OMIM:166750
8P23.1 Duplication Syndrome
Highly arched eyebrow, Hypertelorism, Deeply set eye, Adrenal insufficiency, Hydronephrosis ORPHA:251076
Silver-Russell Syndrome Due To A Point Mutation
Bifid scrotum, Hypospadias, Dysmenorrhea, Small for gestational age, Hypoglycemia, Cryptorchidism... ORPHA:397590
Hypotrichosis 8
Ridged nail, Sparse scalp hair, Dry hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow,... OMIM:278150
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2
Small for gestational age, Cryptorchidism, Renal hypoplasia, Fine hair, Hypotelorism, Recurrent h... OMIM:616817
Angioma Serpiginosum, X-Linked
Sparse hair, Nail dystrophy, Fine hair OMIM:300652
Stag1-Related Intellectual Disability-Facial Dysmorphism-Gastroesophageal Reflux Syndrome
Cryptorchidism, Synophrys, Horseshoe kidney, Deeply set eye, Long eyelashes, Thin eyebrow, Hypopl... ORPHA:502434
Myopathy, X-Linked, With Postural Muscle Atrophy
Skeletal muscle atrophy, Scapular winging, Achilles tendon contracture, Hamstring contractures, S... OMIM:300696
Summitt Syndrome
Syndactyly, Obesity OMIM:272350
Ankyloglossia With Or Without Tooth Anomalies
Supernumerary tooth, Ankyloglossia OMIM:106280
Riboflavin Transporter Deficiency
Cachexia, Hypogonadism, Diabetes insipidus ORPHA:97229
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27
Skeletal muscle atrophy, Proximal muscle weakness in upper limbs, Shoulder flexion contracture, A... OMIM:619566
Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, And Facial Dysmorphism
Sparse hair, Widow's peak, Thick eyebrow OMIM:606242
Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type
Short foot, Obesity, Tapered finger OMIM:309585
Fanconi Anemia, Complementation Group S
Hypertelorism, Low anterior hairline, Ovarian neoplasm, Long eyelashes, Ovarian carcinoma, Sparse... OMIM:617883
Monilethrix
Abnormal eyebrow morphology, Brittle hair, Slow-growing hair, Abnormal eyelash morphology, Fine h... ORPHA:573
Seckel Syndrome 1
Cryptorchidism, Pancytopenia, Hypospadias, Clitoral hypertrophy OMIM:210600
Acrofacial Dysostosis, Palagonia Type
Sparse eyelashes, Micrognathia, High, narrow palate, Supernumerary tooth, Low anterior hairline, ... ORPHA:1787
Bencze Syndrome
Open bite, Submucous cleft hard palate, Extension of hair growth on temples to lateral eyebrow ORPHA:1241
Short Stature, Microcephaly, And Endocrine Dysfunction
Diabetes mellitus, Unilateral renal agenesis, Ectopic kidney, Cryptorchidism, Insulin resistance,... OMIM:616541
Tooth Agenesis, Selective, 7
Taurodontia, Agenesis of permanent teeth OMIM:616724
Congenital Short Bowel Syndrome
Sparse hair, Displacement of the urethral meatus ORPHA:2301
Severe Intellectual Disability-Hypotonia-Strabismus-Coarse Face-Planovalgus Syndrome
Obesity, Finger joint hypermobility, Genu valgum ORPHA:436141
Rippling Muscle Disease 2
Skeletal muscle hypertrophy, Calf muscle hypertrophy OMIM:606072
Inverted Duplicated Chromosome 15 Syndrome
Unilateral renal agenesis, Precocious puberty, Cryptorchidism, Synophrys, Deeply set eye, Gonadal... ORPHA:3306
Trichothiodystrophy 5, Nonphotosensitive
Brittle hair, Slow-growing hair, Sparse eyebrow, Micropenis, Reduced hair sulfur content, Sparse ... OMIM:300953
Mitochondrial Neurogastrointestinal Encephalomyopathy
Hypergonadotropic hypogonadism, Hypogonadotropic hypogonadism, Cachexia, Weight loss, Anemia ORPHA:298
Bardet-Biedl Syndrome 18
Obesity, Brachydactyly OMIM:615995
Sheehan Syndrome
Decreased circulating cortisol level, Reduced circulating prolactin concentration, Gonadotropin d... ORPHA:91355
Monilethrix
Alopecia, Brittle hair, Abnormality of hair texture, Nail dystrophy, Nail dysplasia, Sparse hair OMIM:158000
Laryngeal Neuroendocrine Tumor
Adrenocorticotropic hormone excess, Weight loss, Increased serum serotonin, Elevated circulating ... ORPHA:100083
Oocyte/Zygote/Embryo Maturation Arrest 11
Female infertility OMIM:619643
Oocyte/Zygote/Embryo Maturation Arrest 6
Female infertility OMIM:618353
Progesterone Resistance
Female infertility OMIM:264080
Oocyte/Zygote/Embryo Maturation Arrest 15
Female infertility OMIM:616814
Oocyte/Zygote/Embryo Maturation Arrest 3
Female infertility OMIM:617712
Oocyte/Zygote/Embryo Maturation Arrest 7
Female infertility OMIM:618550
Oocyte/Zygote/Embryo Maturation Arrest 18
Female infertility OMIM:620332
Oocyte/Zygote/Embryo Maturation Arrest 19
Female infertility OMIM:620333
Oocyte/Zygote/Embryo Maturation Arrest 1
Female infertility OMIM:615774
Developmental And Epileptic Encephalopathy 89
Highly arched eyebrow, Hypertelorism, Sparse eyebrow, Hypoplastic labia minora, Hypoplastic labia... OMIM:619124
Intellectual Developmental Disorder, X-Linked 108
Overweight, Deeply set eye, High anterior hairline OMIM:301024
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome
External genital hypoplasia, Frontal balding, Early balding, Deeply set eye, Truncal obesity, Hyp... ORPHA:3041
Axin2-Related Attenuated Familial Adenomatous Polyposis
Sparse hair ORPHA:401911
Atkin-Flaitz Syndrome
Thick vermilion border, Everted lower lip vermilion, Maxillary lateral incisor microdontia, Abnor... ORPHA:1193
Hemifacial Atrophy, Progressive
Deeply set eye, Patchy alopecia, Poliosis OMIM:141300
Isolated Cleft Lip
Macrodontia, Bilateral cleft lip, Velopharyngeal insufficiency, Non-midline cleft lip, Hypodontia... ORPHA:199302
Zimmermann-Laband Syndrome
Micrognathia, Supernumerary tooth, Gingival fibromatosis, Cleft palate, Anterior open-bite malocc... ORPHA:3473
Pili Torti
Abnormal eyebrow morphology, Alopecia, Brittle hair, Abnormality of hair texture, Abnormality of ... ORPHA:2889
Hemoglobin D Disease
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... ORPHA:90039
Alopecia-Intellectual Disability Syndrome
Sparse scalp hair, Alopecia, Hypergonadotropic hypogonadism, Sparse body hair, Aplasia/Hypoplasia... ORPHA:2850
Intermediate Generalized Junctional Epidermolysis Bullosa
Scarring alopecia of scalp, Nail dystrophy, Anonychia, Sparse body hair, Anemia ORPHA:79402
Uvula, Bifid
Bifid uvula OMIM:192100
Woolly Hair, Hypotrichosis, Everted Lower Lip, And Outstanding Ears
Sparse hair, Woolly hair OMIM:278200
Ectodermal Dysplasia, Trichoodontoonychial Type
Abnormal eyelash morphology, Sparse hair, Abnormal toenail morphology, Sparse body hair, Aplasia/... ORPHA:1818
3-Methylglutaconic Aciduria Type 1
Failure to thrive, 3-Methylglutaconic aciduria, Hypoglycemia ORPHA:67046
Peroxisome Biogenesis Disorder 1A (Zellweger)
Hypospadias, Adrenal hypoplasia, Hypertelorism, Cryptorchidism, Aminoaciduria, Albuminuria, Failu... OMIM:214100
Cutaneous Telangiectasia And Cancer Syndrome, Familial
Alopecia, Yellow nails, Carious teeth, Conical incisor, Nail dystrophy, Enamel hypoplasia, Sparse... OMIM:614564
Splenogonadal Fusion With Limb Defects And Micrognathia
Crowded maxillary incisors, Multiple unerupted teeth, Stillbirth, Micrognathia OMIM:183300
Uncombable Hair Syndrome
Abnormal hair morphology, White hair, Coarse hair, Patchy alopecia, Trichodysplasia, Woolly hair ORPHA:1410
Acromesomelic Dysplasia 3
Hypergonadotropic hypogonadism, Elevated circulating luteinizing hormone level, Primary amenorrhe... OMIM:609441
Galactokinase Deficiency
Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Small for gestational age, Hypog... ORPHA:79237
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Streak ovary, Hypergonadotropic hypogonadism, Premature ovarian insufficiency, Elevated circulati... ORPHA:572333
Reni Syndrome
Diffuse mesangial sclerosis, Proteinuria, Hypoglycemia, Cryptorchidism, Stage 5 chronic kidney di... OMIM:617575
Weaver Syndrome
Deep-set nails, Hypoplasia of penis, Abnormal fingernail morphology, Thin nail, Hypertelorism, Hy... ORPHA:3447
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism
Hypergonadotropic hypogonadism, Insulin-resistant diabetes mellitus, Secondary amenorrhea, Polycy... OMIM:268020
Bardet-Biedl Syndrome 5
Syndactyly, Polydactyly, Obesity, Brachydactyly OMIM:615983
Aredyld
Generalized hypotrichosis OMIM:207780
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Abnormality of the ovary, Hypogonadism, Decreased testicular size ORPHA:1875
Roberts Syndrome
Clitoral hypertrophy, Hypertelorism, Cryptorchidism, Long penis, Proptosis, Polycystic kidney dys... ORPHA:3103
Premature Ovarian Failure 5
Streak ovary, Premature ovarian insufficiency, Secondary amenorrhea, Primary amenorrhea, Hypoplas... OMIM:611548
Peroxisome Biogenesis Disorder 5A (Zellweger)
Hypospadias, Small for gestational age, Hypertelorism, Splenomegaly, Cryptorchidism, Renal cyst, ... OMIM:614866
Smith-Kingsmore Syndrome
Curly hair, Hypoglycemia, Large for gestational age, Hypertelorism, Cryptorchidism, Thrombocytopenia OMIM:616638
Freeman-Sheldon Syndrome
Cryptorchidism, Deeply set eye, Failure to thrive, Hypertelorism ORPHA:2053
X-Linked Intellectual Disability, Cabezas Type
Hypoplasia of penis, Abnormal hair pattern, Cachexia, Synophrys, Obesity, Hyperhidrosis, Hypogona... ORPHA:85293
Meier-Gorlin Syndrome 7
Urethral stricture, Hypospadias, Cryptorchidism, Proptosis, Breast aplasia, Thin eyebrow, Decreas... OMIM:617063
Intellectual Developmental Disorder, Autosomal Dominant 47
Small for gestational age, Supernumerary nipple, Cryptorchidism, Deeply set eye, Thin eyebrow OMIM:617635
Lethal Omphalocele-Cleft Palate Syndrome
Cleft soft palate, Cleft palate, Unilateral cleft lip, Retrognathia, Bifid uvula ORPHA:2736
Schöpf-Schulz-Passarge Syndrome
Sparse hair, Alopecia, Aplasia/Hypoplasia of the eyebrow, Ovarian neoplasm ORPHA:50944
Testicular Agenesis
Abnormal vas deferens morphology, Urethrovaginal fistula, Absent external genitalia, Increased ci... ORPHA:325124
Cardiocranial Syndrome, Pfeiffer Type
Hypospadias, Hypertelorism, Cryptorchidism, Abnormal hair whorl, Sparse hair, Micropenis ORPHA:2872
Woodhouse-Sakati Syndrome
Alopecia, Streak ovary, Hypoplasia of the fallopian tube, Decreased response to growth hormone st... ORPHA:3464
Rhyns Syndrome
Deeply set eye, Hypopituitarism, Multicystic kidney dysplasia, Nephronophthisis ORPHA:140976
Kaufman Oculocerebrofacial Syndrome
Hypertelorism, Sparse eyebrow, Hypoplastic labia majora, Sparse hair, Failure to thrive, Clitoral... OMIM:244450
14Q11.2 Microdeletion Syndrome
Deeply set eye, Sparse lateral eyebrow, Highly arched eyebrow, Hypertelorism ORPHA:261120
Seckel Syndrome 10
Acute pancreatitis, Diabetes mellitus, Impaired glucose tolerance, Elevated hemoglobin A1c, Eleva... OMIM:617253
Mirage Syndrome
Decreased body weight, Hypergonadotropic hypogonadism, Hypospadias, Adrenal hypoplasia, Hypoglyce... OMIM:617053
Omphalocele-Cleft Palate Syndrome, Lethal
Death in infancy, Bifid uvula, Cleft palate OMIM:258320
Van Der Woude Syndrome 1
Cleft upper lip, Lower lip pit, Cleft palate, Hypodontia, Bifid uvula OMIM:119300
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
Hypospadias, Proteinuria, Glomerulonephritis, Synophrys, Fine hair, Deeply set eye, Nephrotic syn... OMIM:619428
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11
Woolly hair OMIM:610476
Intellectual Developmental Disorder, X-Linked 91
Small hand, Obesity, Short foot, Short 5th finger, Clinodactyly OMIM:300577
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation
Fragile nails, Fine hair ORPHA:500166
Temtamy Preaxial Brachydactyly Syndrome
Highly arched eyebrow, Diastema, Synophrys, Talon cusp, Deep philtrum, Cleft palate, Microdontia OMIM:605282
1Q41Q42 Microdeletion Syndrome
Hypergonadotropic hypogonadism, Cryptorchidism, Hyposegmentation of neutrophil nuclei, Hypotelori... ORPHA:250999
Generalized Glucocorticoid Resistance Syndrome
Increased urinary cortisol level, Adrenal hyperplasia, Hypoglycemia, Frontal balding, Precocious ... ORPHA:786
Clark-Baraitser syndrome
Exaggerated median tongue furrow, Thick lower lip vermilion, Prominent median palatal raphe, Wide... OMIM:300602
Multicentric Reticulohistiocytosis
Cachexia, Histiocytosis ORPHA:139436
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Long eyelashes, Hypogonadotropic hypogonadism, Hypoglycemia ORPHA:48431
X-Linked Hypohidrotic Ectodermal Dysplasia
Hypohidrosis, Type I diabetes mellitus, Sparse hair, Anterior hypopituitarism, Sparse body hair, ... ORPHA:181
Warburg Micro Syndrome 4
Small scrotum, Cryptorchidism, Low anterior hairline, Deeply set eye, Micropenis, Decreased testi... OMIM:615663
Glucocorticoid Resistance, Generalized
Hypoglycemia, Irregular menstruation, Increased circulating ACTH level, Increased circulating cor... OMIM:615962
Classic Galactosemia
Male infertility, Decreased serum insulin-like growth factor 1, Premature ovarian insufficiency, ... ORPHA:79239
Acquired Hypertrichosis Lanuginosa
Abnormal eyebrow morphology, Hypopigmentation of hair, Ovarian neoplasm, Fine hair, Weight loss, ... ORPHA:2221
Van Der Woude Syndrome 2
Lip pit, Cleft upper lip, Dental malocclusion, Cleft palate, Hypodontia, Anodontia OMIM:606713
Ear-Patella-Short Stature Syndrome
Hypoplasia of penis, Hypospadias, Epispadias, Cryptorchidism, Hypoplastic labia minora, Hypoplast... ORPHA:2554
Fg Syndrome 3
Sparse hair, Cryptorchidism, Frontal upsweep of hair, Fine hair OMIM:300406
Robin Sequence With Cleft Mandible And Limb Anomalies
Microretrognathia, Micrognathia, Agenesis of mandibular central incisor, Pierre-Robin sequence, A... OMIM:268305
Xp22.13P22.2 Duplication Syndrome
Macroorchidism, Hypertelorism, Polycystic ovaries, Truncal obesity, Sparse hair, High anterior ha... ORPHA:284180
Tooth Agenesis, Selective, 8
Sparse eyebrow, Sparse hair OMIM:617073
Orofaciodigital Syndrome Xix
Cleft soft palate, Accessory oral frenulum, Carious teeth, Narrow palate, Low posterior hairline,... OMIM:620107
Bone Marrow Failure Syndrome 5
Pure red cell aplasia, Erythroid hypoplasia, Hypogonadism, Nail dystrophy, Testicular atrophy, An... OMIM:618165
Solitary Fibrous Tumor
Hypoglycemia, Vaginal neoplasm, Weight loss, Recurrent hypoglycemia, Urinary retention, Prostate ... ORPHA:2126
Tetrasomy 12P
Cachexia, Hypertelorism, Sparse eyebrow, Hypohidrosis, Sparse hair ORPHA:884
Intellectual Developmental Disorder, Autosomal Recessive 45
Highly arched eyebrow, Hypertelorism, Synophrys, Deeply set eye, Thick eyebrow OMIM:615979
Orofaciodigital Syndrome Iii
Supernumerary tooth, Tongue nodules, Microdontia, Bifid tongue, Bifid uvula OMIM:258850
Genitourinary And/Or Brain Malformation Syndrome
Streak ovary, Hypospadias, Hypertelorism, Cryptorchidism, Uterus didelphys, Gonadal dysgenesis, U... OMIM:618820
Hair Defect With Photosensitivity And Mental Retardation
Brittle hair, Sparse eyelashes, Sparse eyebrow, Coarse hair, Sparse hair OMIM:234030
Bardet-Biedl Syndrome 10
Polydactyly, Obesity OMIM:615987
Lipodystrophy Due To Peptidic Growth Factors Deficiency
Cachexia, Abnormal hair morphology, Weight loss, Premature graying of hair, Type I diabetes mellitus ORPHA:1979
C Syndrome
Cryptorchidism, Clitoral hypertrophy, Failure to thrive, Renal cortical cysts OMIM:211750
Woodhouse-Sakati Syndrome
Alopecia, Decreased serum insulin-like growth factor 1, Hypogonadotropic hypogonadism, Hypergonad... OMIM:241080
Hidrotic Ectodermal Dysplasia, Halal Type
Sparse scalp hair, Absent eyebrow, Abnormal fingernail morphology, Supernumerary nipple, Absent e... ORPHA:1809
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 2
Sparse scalp hair, High anterior hairline, Notched primary central incisor OMIM:620062
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 3
Skeletal muscle hypertrophy, Calf muscle hypertrophy, Muscular dystrophy, Increased variability i... OMIM:613157
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Endometrial carcinoma, Decreased circulating cortisol level, Adrenal hyperplasia, Hypoglycemia, M... ORPHA:90790
Tetraamelia With Ectodermal Dysplasia And Lacrimal Duct Abnormalities
Sparse hair, Cryptorchidism OMIM:273390
Mitochondrial Complex Iv Deficiency, Nuclear Type 14
Deeply set eye, Obesity OMIM:619058
Optic Atrophy-Ataxia-Peripheral Neuropathy-Global Developmental Delay Syndrome
Ambiguous genitalia, Failure to thrive, Abnormal mitochondrial shape, Clitoral hypertrophy ORPHA:543470
Cerebrooculofacioskeletal Syndrome 1
Small for gestational age, Cryptorchidism, Insulin resistance, Deeply set eye, Failure to thrive,... OMIM:214150
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones
Small for gestational age, Sparse facial hair, Sparse axillary hair, Deeply set eye, Failure to t... OMIM:608154
Testicular Regression Syndrome
Abnormal male internal genitalia morphology, Hypoplasia of penis, Male pseudohermaphroditism, Dec... ORPHA:983
Meier-Gorlin Syndrome 1
Small for gestational age, Hyperconvex nail, Cryptorchidism, Hypoplastic labia minora, Hypoplasti... OMIM:224690
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Adrenal hyperplasia, Hypospadias, Hypoglycemia, Renal salt wasting, Adrenogenital syndrome OMIM:201910
Aromatase Deficiency
Male infertility, Macroorchidism, postpubertal, Hypergonadotropic hypogonadism, Female infertilit... ORPHA:91
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Cachexia, Weight loss, Aminoaciduria, Proximal tubulopathy, Failure to thrive OMIM:612075
Craniofrontonasal Dysplasia
Hypospadias, Abnormality of hair texture, Hypertelorism, Widow's peak, Low posterior hairline, Sh... ORPHA:1520
Christianson Syndrome
Deeply set eye, Cachexia, Thick eyebrow ORPHA:85278
Müllerian Aplasia And Hyperandrogenism
Thick eyebrow, Frontal balding, Synophrys, Obesity, Primary amenorrhea, Hypoplasia of the uterus,... ORPHA:247768
Coffin-Siris Syndrome 11
Cleft soft palate, Esophageal atresia, Low posterior hairline, Downturned corners of mouth, Wide ... OMIM:618779
46,Xy Difference Of Sex Development Due To 5-Alpha-Reductase 2 Deficiency
Bifid scrotum, Hypoplasia of penis, Small scrotum, Abnormality of the endocrine system, Cryptorch... ORPHA:753
Microcephaly, Developmental Delay, And Brittle Hair Syndrome
Brittle hair, Hypospadias, Small for gestational age, Failure to thrive in infancy, Fine hair, De... OMIM:618891
Intellectual Developmental Disorder, Autosomal Recessive 71
Deeply set eye, Micropenis, Unilateral renal agenesis, Cryptorchidism OMIM:618504
Mitochondrial Complex I Deficiency, Nuclear Type 33
Small for gestational age, Hypospadias, Hypoglycemia, Neutropenia, Sparse hair OMIM:618253
Ectodermal Dysplasia 10A, Hypohidrotic/Hair/Nail Type, Autosomal Dominant
Ridged nail, Sparse eyelashes, Slow-growing hair, Sparse eyebrow, Fine hair, Sparse hair OMIM:129490
Anemia, Congenital Dyserythropoietic, Type Iv
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti... OMIM:613673
Pituicytoma
Hypopituitarism, Decreased female libido, Hypogonadotropic hypogonadism, Decreased response to gr... ORPHA:251623
Cubitus Valgus With Impaired Intellectual Development And Unusual Facies
Deeply set eye, Truncal obesity OMIM:300471
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Nonketotic hypoglycemia, Large for gestational age, Abnormal circulating insulin concentration, H... ORPHA:293964
Hemihyperplasia, Isolated
Skeletal muscle hypertrophy OMIM:235000
Tonne-Kalscheuer Syndrome
Hypospadias, Hypertelorism, Concave nail, Cryptorchidism, Hypotelorism, Fine hair, Small nail, Mi... OMIM:300978
Spermatogenic Failure, X-Linked, 2
Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest OMIM:309120
Intellectual Developmental Disorder, Autosomal Dominant 52
Small for gestational age, Hypertelorism, Bilateral cryptorchidism, Cryptorchidism, Synophrys, Ov... OMIM:617796
Pituitary Apoplexy
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Reduced ci... ORPHA:95613
Cdkl5-Deficiency Disorder
Deeply set eye, Synophrys ORPHA:505652
Perrault Syndrome 6
Streak ovary, Premature ovarian insufficiency, Irregular menstruation, Primary amenorrhea, Second... OMIM:617565
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Reactive hypoglycemia, Hyperinsulinemia, Increased body weight, Hyperhidrosis, Pancreatic islet-c... ORPHA:276608
Shox-Related Short Stature
Obesity, Tibial bowing, Skeletal muscle hypertrophy, Short foot, Genu valgum, Forearm undergrowth... ORPHA:314795
Familial Glucocorticoid Deficiency
Decreased circulating dehydroepiandrosterone concentration, Decreased circulating cortisol level,... ORPHA:361
Sulfite Oxidase Deficiency, Isolated
Sulfocysteinuria, Increased urinary sulfite level, Fine hair, Deeply set eye, Decreased urinary s... OMIM:272300
Diethylstilbestrol Syndrome
Hypospadias, Vaginal neoplasm, Abnormal reproductive system morphology, Cryptorchidism, Testicula... ORPHA:1916
Combined Oxidative Phosphorylation Deficiency 47
Cryptorchidism, Failure to thrive, Hypoglycemia OMIM:618958
Laron Syndrome
Hypoplasia of penis, Hypoglycemia, Abnormality of the endocrine system, Hypohidrosis, Truncal obe... ORPHA:633
Perrault Syndrome 1
Gonadal dysgenesis, Increased circulating gonadotropin level, Primary amenorrhea OMIM:233400
Non-Acquired Panhypopituitarism
Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypogonadotropic hypogonadism, Ant... ORPHA:90695
Silent Sinus Syndrome
Deeply set eye ORPHA:71276
Graves Disease, Susceptibility To, 1
Decreased thyroid-stimulating hormone level, Increased circulating free T4 concentration, Increas... OMIM:275000
Bone Marrow Failure Syndrome 3
Acute myeloid leukemia, Pancytopenia, Failure to thrive, Aplastic anemia, Hypertelorism, Pancreat... OMIM:617052
Premature Ovarian Failure 1
Increased circulating gonadotropin level, Premature ovarian insufficiency, Irregular menstruation OMIM:311360
Amelogenesis Imperfecta, Type Ic
Enamel hypomineralization, Anterior open-bite malocclusion, Taurodontia, Yellow-brown discolorati... OMIM:204650
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome
Hypertelorism, Abnormality of the endocrine system, Cryptorchidism, Pseudohypoparathyroidism, Ren... ORPHA:464288
Chilton-Okur-Chung Neurodevelopmental Syndrome
Mandibular prognathia, Micrognathia, Synophrys, Low anterior hairline, Short philtrum, Widely spa... OMIM:619841
46,Xy Ovotesticular Difference Of Sex Development
Bifid scrotum, Ambiguous genitalia, True hermaphroditism, Abnormal labia morphology, Fused labia ... ORPHA:325345
Silver-Russell Syndrome 1
Urethral valve, Hypospadias, Decreased response to growth hormone stimulation test, Small for ges... OMIM:180860
Pituitary Hormone Deficiency, Combined Or Isolated, 1
Decreased thyroid-stimulating hormone level, Anterior pituitary hypoplasia, Reduced circulating p... OMIM:613038
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis
Diabetes mellitus, Small for gestational age, Hypertelorism, Oligozoospermia, Deeply set eye, Cli... OMIM:614813
Hypotrichosis 12
Sparse scalp hair, Dry hair, Slow-growing hair, Sparse axillary hair, Abnormal sweat gland morpho... OMIM:615885
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations
Hydroureter, Small for gestational age, Septate vagina, Bicornuate uterus, Rectovaginal fistula, ... OMIM:300707
Trichodental Dysplasia
Sparse hair, Brittle hair, Slow-growing hair, Fine hair OMIM:601453
Intellectual Disability And Myopathy Syndrome
Widely-spaced maxillary central incisors, Thin upper lip vermilion, Dental malocclusion, Incisor ... OMIM:619719
Hypotonia-Cystinuria Syndrome
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Nephrolith... OMIM:606407
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Maternal diabetes, Large for gestational age, Episodic hyperhidrosis, Hyperinsulinemia, Hypoglyce... ORPHA:276580
Mody
Elevated hemoglobin A1c, Large for gestational age, Overweight, Transient neonatal diabetes melli... ORPHA:552
Wolman Disease
Adrenal calcification, Bone-marrow foam cells, Cachexia, Splenomegaly, Adrenal insufficiency, Anemia ORPHA:75233
Addison Disease
Normocytic anemia, Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasi... ORPHA:85138
1p36 microdeletion syndrome
Deeply set eye DECIPHER:18
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Small for gestational age, Hypoglycemia, Insulin resistance, Low anterior hairline, Low posterior... ORPHA:73272
Paternal 20Q13.2Q13.3 Microdeletion Syndrome
Sparse hair, Deeply set eye, Aplasia/Hypoplasia of the eyebrow, Hypertelorism ORPHA:261304
Webb-Dattani Syndrome
Neurogenic bladder, Decreased response to growth hormone stimulation test, Anterior pituitary hyp... OMIM:615926
Beaulieu-Boycott-Innes Syndrome
Premature ovarian insufficiency, Unilateral renal agenesis, Endometriosis, Horseshoe kidney, Deep... OMIM:613680
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome
High, narrow palate, Submucous cleft hard palate, Low anterior hairline, Abnormal mandible morpho... ORPHA:3201
Dentinogenesis Imperfecta
Generalized hypoplasia of dental enamel, Odontodysplasia, Pulp obliteration, Selective tooth agen... ORPHA:49042
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia
Sparse scalp hair, Alopecia, Abnormal fingernail morphology, Hypoplastic toenails, Fingernail dys... ORPHA:2325
Palmoplantar Keratoderma And Woolly Hair
Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Leukonychia, Woolly hair, Sparse body hair OMIM:616099
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 4
Hypoglycosylation of alpha-dystroglycan, Peroneal muscle weakness, Flexion contracture, Skeletal ... OMIM:611588
Focal Facial Dermal Dysplasia Type I
Absent eyelashes, Low anterior hairline, Sparse hair, Distichiasis, Sparse lateral eyebrow ORPHA:79133
Choroidal Atrophy-Alopecia Syndrome
Abnormal fingernail morphology, Supernumerary nipple, Bifid nail, Fine hair, Sparse or absent eye... ORPHA:1433
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome
Hypoplasia of penis, Supernumerary nipple, Hypertelorism, Cryptorchidism, Fine hair, Aplastic/hyp... ORPHA:1812
Neurodevelopmental Disorder With Or Without Autistic Features And/Or Structural Brain Abnormalities
Deeply set eye, High anterior hairline OMIM:618859
Desanto-Shinawi Syndrome
Hypertelorism, Synophrys, Hirsutism, Deeply set eye, Thick eyebrow OMIM:616708
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Hypoplasia of penis, Slow-growing hair, Abnormal hair morphology, Cryptorchidism, Hypotelorism, U... ORPHA:3082
2q37 monosomy
Deeply set eye DECIPHER:44
Ritscher-Schinzel Syndrome 4
Curly hair, Hypertelorism, Cryptorchidism, Hypotelorism, Deeply set eye, Proptosis, Micropenis OMIM:619435
Adenocarcinoma Of The Esophagus
Obesity, Clinodactyly of the 5th toe ORPHA:99976
Noonan Syndrome 6
Juvenile myelomonocytic leukemia, Curly hair, Long eyebrows, Hypertelorism, Cryptorchidism, Low p... OMIM:613224
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome
Diabetes mellitus, Small for gestational age, Hypoglycemia, Synophrys, Low anterior hairline, Fin... ORPHA:391408
Adrenocortical Carcinoma
Increased urinary cortisol level, Diabetes mellitus, Paradoxical increased cortisol secretion on ... ORPHA:1501
Hypotrichosis 6
Brittle hair, Sparse eyelashes, Sparse eyebrow, Sparse hair, Pili torti OMIM:607903
Developmental And Epileptic Encephalopathy 66
Thin upper lip vermilion, Synophrys, Downturned corners of mouth, Wide mouth, Everted lower lip v... OMIM:618067
Trichorhinophalangeal Syndrome Type 1
Sparse eyelashes, Micrognathia, Sparse eyebrow, Abnormality of the dentition, Supernumerary tooth... ORPHA:77258
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome
Alopecia, Fingernail dysplasia, Sparse hair, Onychogryposis of fingernail, Ridged fingernail ORPHA:2251
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
Alopecia, Small scrotum, Hypertelorism, Cryptorchidism, Fine hair, Hypogonadism ORPHA:228390
Microphthalmia, Syndromic 12
Intestinal malrotation, Micrognathia, Cleft palate, Neonatal death, Retrognathia OMIM:615524
Proprotein Convertase 1/3 Deficiency
Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Reactive hypoglycemia, Obesi... OMIM:600955
Trichothiodystrophy 9, Nonphotosensitive
Sparse eyebrow, Tiger tail banding, Sparse hair, Nail dystrophy OMIM:619692
Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome
Sparse scalp hair, Alopecia, Sparse eyebrow, Hypothyroidism, Fine hair, Dystrophic fingernails, D... ORPHA:1882
Intellectual Developmental Disorder, Autosomal Dominant 2
Deeply set eye OMIM:614113
Ovarian Fibrothecoma
Ovarian fibroma, Metrorrhagia, Abnormal endometrium morphology, Abnormal circulating hormone conc... ORPHA:314478
Bifid Uvula
Submucous cleft soft palate, Cleft lip, Bifid uvula ORPHA:99771
Periventricular Nodular Heterotopia 7
Hypertelorism, Cryptorchidism, Deeply set eye, Proptosis, Failure to thrive OMIM:617201
Ichthyosis, Congenital, Autosomal Recessive 11
Curly hair, Brittle hair, Sparse eyelashes, Curly eyelashes, Sparse eyebrow, Conical primary inci... OMIM:602400
Nance-Horan Syndrome
Supernumerary maxillary incisor, Screwdriver-shaped incisors, Mulberry molar, Diastema OMIM:302350
Oocyte/Zygote/Embryo Maturation Arrest 17
Female infertility, Amenorrhea OMIM:620319
Oocyte/Zygote/Embryo Maturation Arrest 20
Female infertility, Amenorrhea OMIM:620383
Chromosome 20Q11-Q12 Deletion Syndrome
Deeply set eye, Hypertelorism OMIM:614257
Marie Unna Hereditary Hypotrichosis
Sparse scalp hair, Alopecia, Sparse or absent eyelashes, Coarse hair, Aplasia/Hypoplasia of the e... ORPHA:444
Ataxia-Oculomotor Apraxia Type 4
Progressive distal muscular atrophy, Abnormal toe morphology, Obesity, Muscular dystrophy, Distal... ORPHA:459033
Otodental Syndrome
Delayed eruption of teeth, Abnormal dental enamel morphology, Agenesis of premolar, Carious teeth... ORPHA:2791
Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, And Other Abnormalities
Aminoaciduria, Hypogonadism, Hypoplastic nipples, Small nail, Sparse hair OMIM:273400
20Q11.2 Microdeletion Syndrome
Deeply set eye, Hypertelorism ORPHA:444051
Blepharophimosis, Ptosis, And Epicanthus Inversus
Premature ovarian insufficiency, Highly arched eyebrow, Female infertility, Sparse pubic hair, In... OMIM:110100
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Large for gestational age, Episodic hyperhidrosis, Hyperinsulinemia, Hypoglycemic seizures, Fasti... ORPHA:276575
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome
Delayed eruption of teeth, Sparse eyelashes, Abnormal dental enamel morphology, Supernumerary nip... ORPHA:1071
Trisomy 13
Abnormal eyelash morphology, Cryptorchidism, Abnormality of the ureter, Hypotelorism, Deeply set ... ORPHA:3378
Hemochromatosis, Type 1
Alopecia, Diabetes mellitus, Hypogonadotropic hypogonadism, Splenomegaly, Azoospermia, Impotence,... OMIM:235200
Ovarian Hyperstimulation Syndrome
Hemorrhagic ovarian cyst, Enlarged polycystic ovaries, Increased circulating gonadotropin level, ... ORPHA:64739
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Hypospadias, Highly arched eyebrow, Hypertelorism, Cryptorchidism, Synophrys, Deeply set eye, Hyp... OMIM:618316
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency
Hypoglycemia ORPHA:35701
Nicolaides-Baraitser Syndrome
Alopecia, Curly eyelashes, Abnormal hair pattern, Highly arched eyebrow, Cryptorchidism, Long eye... ORPHA:3051
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome
Supernumerary nipple, Hypertelorism, Cryptorchidism, Synophrys, Low posterior hairline, Interhypo... OMIM:618929
Hereditary Mucoepithelial Dysplasia
Alopecia, Fine hair, Hematuria, Sparse hair, Abnormal morphology of female internal genitalia ORPHA:1839
Bazex-Dupré-Christol Syndrome
Sparse scalp hair, Sparse eyebrow, Sparse or absent eyelashes, Coarse hair, Sparse hair, Pili tor... ORPHA:113
Intellectual Developmental Disorder, Autosomal Recessive 79
Deeply set eye, Oligomenorrhea OMIM:620393
Intellectual Developmental Disorder, X-Linked, Syndromic, Wu Type
Deeply set eye, Slender build OMIM:300699
Intellectual Developmental Disorder, Autosomal Recessive 39
Deeply set eye, Synophrys OMIM:615541
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Alopecia, Cachexia, Xerostomia, Nail dystrophy, Nail dysplasia, Anemia OMIM:175500
Progressive Nodular Histiocytosis
Cachexia ORPHA:158022
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6
Facial palsy, Achilles tendon contracture, Elbow flexion contracture, Skeletal muscle hypertrophy... OMIM:608840
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Slender build, Cachexia, Weight loss OMIM:613662
Uncombable Hair Syndrome 3
Uncombable hair, Curly hair, Brittle hair, Pili canaliculi OMIM:617252
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome
Curly hair, Hypospadias, Large for gestational age, Hypertelorism, Cryptorchidism, Neonatal hypog... ORPHA:457485
Warburg Micro Syndrome 2
Small scrotum, Cryptorchidism, Low anterior hairline, Hypoplastic labia majora, Deeply set eye, M... OMIM:614225
Focal Facial Dermal Dysplasia 3, Setleis Type
Sparse hair, Distichiasis, Low anterior hairline, Absent lower eyelashes OMIM:227260
Hyperinsulinism Due To Ucp2 Deficiency
Large for gestational age, Reactive hypoglycemia, Episodic hyperhidrosis, Hypoglycemic seizures, ... ORPHA:276556
Hyperinsulinemic Hypoglycemia, Familial, 8
Hypoglycemia, Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia, H... OMIM:620211
Naegeli-Franceschetti-Jadassohn Syndrome
Abnormal dental morphology, Abnormality of the dentition, Carious teeth, Supernumerary tooth, Pre... ORPHA:69087
Schopf-Schulz-Passarge Syndrome
Ridged nail, Narrow nail, Thin nail, Poroma, Onycholysis, Nail dystrophy, Small nail, Sparse hair... OMIM:224750
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy
Cachexia ORPHA:1216
Intellectual Developmental Disorder With Macrocephaly, Seizures, And Speech Delay
Deeply set eye, Recurrent hypoglycemia OMIM:618158
Dwarfism, Low-Birth-Weight Type, With Unresponsiveness To Growth Hormone
Hypoglycemia OMIM:223500
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Ketonuria, Elevated circulating growth hormone concentration, Large for gestational age, Neonatal... ORPHA:79644
Hyperinsulinism-Hyperammonemia Syndrome
Increased urine alpha-ketoglutarate concentration, Fasting hyperinsulinemia, Reactive hypoglycemi... ORPHA:35878
3-Methylglutaconic Aciduria Type 4
Failure to thrive, 3-Methylglutaconic aciduria, Hypoglycemia, Thrombocytopenia ORPHA:67048
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures
Macrodontia of permanent maxillary central incisor, Open mouth, Thick vermilion border, Exaggerat... OMIM:620114
Trichorhinophalangeal Syndrome, Type Iii
Thin upper lip vermilion, Dental crowding, Supernumerary tooth, Long philtrum, Sparse hair, Smoot... OMIM:190351
Insulinoma
Nonketotic hypoglycemia, Reactive hypoglycemia, Abnormality of the pancreatic islet cells, Fastin... ORPHA:97279
Hypotrichosis Simplex Of The Scalp
Abnormal eyebrow morphology, Sparse scalp hair, Absent facial hair, Abnormality of the pubic hair... ORPHA:90368
Isolated Childhood Apraxia Of Speech
High, narrow palate, Submucous cleft hard palate, Horizontal eyebrow ORPHA:209908
Trichothiodystrophy 4, Nonphotosensitive
Brittle hair, Sparse eyelashes, Concave nail, Abnormality of hair texture, Decreased fertility, N... OMIM:234050
Amelogenesis Imperfecta, Hypomaturation Type, Iia1
Carious teeth, Enamel hypomineralization, Anterior open-bite malocclusion, Yellow-brown discolora... OMIM:204700
Kennedy Disease
Decreased fertility, Testicular atrophy, Type II diabetes mellitus, Erectile dysfunction ORPHA:481
Rajab Interstitial Lung Disease With Brain Calcifications 2
Microcytic anemia, Hepatosplenomegaly, Deeply set eye, Hypopituitarism, Hypothyroidism OMIM:619013
Fraser Syndrome 1
Absent eyebrow, Hypospadias, Hypertelorism, Absent eyelashes, Cryptorchidism, Extension of hair g... OMIM:219000
Facial Dysmorphism, Hypertrichosis, Epilepsy, Intellectual/Developmental Delay, And Gingival Overgrowth Syndrome
Thick hair, Synophrys, Deeply set eye, Long eyelashes, Horizontal eyebrow, Thick eyebrow, Hypertr... OMIM:618381
Glucocorticoid Deficiency 3
Recurrent hypoglycemia OMIM:609197
Clouston Syndrome
Alopecia, Brittle hair, Sparse eyelashes, Alopecia totalis, Slow-growing hair, Sparse eyebrow, Ab... OMIM:129500
Fructose And Galactose Intolerance
Hypoglycemia OMIM:229500
Mulibrey Nanism
Cachexia ORPHA:2576
Cleft Soft Palate
Cleft soft palate OMIM:119570
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Cachexia, Aminoaciduria, Generalized hirsutism, Methylmalonic aciduria ORPHA:1933
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type
Cryptorchidism, Deeply set eye, Patchy alopecia, Decreased body weight, Cholelithiasis, Micropeni... OMIM:300534
Perrault Syndrome 2
Streak ovary, Amenorrhea OMIM:614926
Osteosclerosis With Ichthyosis And Premature Ovarian Failure
Hypoplasia of the ovary, Premature ovarian insufficiency OMIM:609993
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Absent eyebrow, Alopecia, Sparse scalp hair, Sparse eyelashes, Hypertelorism, Hypoplastic toenail... ORPHA:544488
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia
Alopecia, Abnormal fingernail morphology, Abnormal hair morphology, Fine hair, Abnormal toenail m... ORPHA:248
Radio-Tartaglia Syndrome
Thick eyebrow, Highly arched eyebrow, Hypertelorism, Long eyebrows, Precocious puberty, Synophrys... OMIM:619312
Ectodermal Dysplasia 7, Hair/Nail Type
Sparse scalp hair, Alopecia, Brittle hair, Sparse eyelashes, Abnormal sweat gland morphology, Spa... OMIM:614929
X-Linked Intellectual Disability Due To Gria3 Mutations
Mandibular prognathia, Aggressive behavior, Narrow palate, Short upper lip, Short philtrum, Thick... ORPHA:364028
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hypoglycemia OMIM:609016
Amelogenesis Imperfecta, Type Iv
Amelogenesis imperfecta, Enamel hypoplasia, Taurodontia, Yellow-brown discoloration of the teeth OMIM:104510
Ectodermal Dysplasia-Syndactyly Syndrome 1
Sparse scalp hair, Alopecia, Sparse eyelashes, Absent facial hair, Hypoplastic toenails, Coarse h... OMIM:613573
Ectodermal Dysplasia 13, Hair/Tooth Type
Brittle hair, Sparse eyelashes, Hypertelorism, Low anterior hairline, Thin eyebrow OMIM:617392
Fetal Hydantoin Syndrome
Bifid scrotum, Hypertelorism, Cryptorchidism, Low posterior hairline, Coarse hair, Hypoplastic fi... ORPHA:1912
Diaphragmatic Hernia 2
Agenesis of the diaphragm, Congenital diaphragmatic hernia OMIM:222400
Coffin-Siris Syndrome 1
Sparse scalp hair, Dry hair, Hydroureter, Hypospadias, Clitoral hypertrophy, Hypertelorism, Ectop... OMIM:135900
Cleidocranial Dysplasia
Mandibular prognathia, Delayed eruption of teeth, Sinusitis, Abnormal dental enamel morphology, M... ORPHA:1452
Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome
Deeply set eye, Fine hair, Hypospadias, Hypertelorism ORPHA:363686
Microphthalmia With Linear Skin Defects Syndrome
Abnormal penis morphology, Failure to thrive, Hypospadias, Abnormal eyelash morphology, Epispadia... ORPHA:2556
Lowry-Maclean Syndrome
Delayed eruption of primary teeth, Micrognathia, Hypoplasia of the maxilla, High, narrow palate, ... ORPHA:2409
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Decreased response to growth hormone stimulation test, Decreased circulating parathyroid hormone ... OMIM:241410
Pontocerebellar Hypoplasia Type 7
Abnormal scrotal rugation, Cryptorchidism, Gonadal dysgenesis, Microphallus, Absent penis, Aplasi... ORPHA:284339
Alexander Disease Type I
Failure to thrive, Abnormal thalamic MRI signal intensity, Cachexia ORPHA:363717
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Deeply set eye, Synophrys, Lymphopenia, Premature ovarian insufficiency ORPHA:391307
Carvajal Syndrome
Woolly hair ORPHA:65282
Short Syndrome
Alopecia, Diabetes mellitus, Hypertelorism, Insulin resistance, Weight loss, Deeply set eye, Spar... ORPHA:3163
Acrootoocular Syndrome
Delayed eruption of teeth, Grayish enamel, Micrognathia, High, narrow palate, Supernumerary tooth... ORPHA:2980
Tsh-Secreting Pituitary Adenoma
Elevated circulating thyroid-stimulating hormone concentration, Hyperhidrosis, Male hypogonadism,... ORPHA:91347
Primary Myelofibrosis
Pancytopenia, Extramedullary hematopoiesis, Cachexia, Thrombocytopenia, Leukocytosis, Splenomegal... ORPHA:824
Trichorhinophalangeal Syndrome Type 2
Sparse scalp hair, Thin upper lip vermilion, Abnormality of the dentition, Supernumerary tooth, D... ORPHA:502
Pituitary Hormone Deficiency, Combined, 6
Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Hypoglycemia, Decreased... OMIM:613986
12Q14 Microdeletion Syndrome
Diabetes mellitus, Hypertelorism, Ectopic kidney, Abnormality of the spleen, Synophrys, Renal hyp... ORPHA:94063
Smith-Lemli-Opitz Syndrome
Hypopigmentation of hair, Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Hyperte... ORPHA:818
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome
Cachexia ORPHA:1144
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits
Sparse hair, Deeply set eye, Hirsutism, Hypertelorism OMIM:618087
Syngap1-Related Developmental And Epileptic Encephalopathy
Deeply set eye, Hypospadias ORPHA:544254
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Autoimmune hemolytic anemia, Alopecia, Hyperthyroidism, Failure to thrive in infancy, Cachexia, A... ORPHA:37042
Pseudoprogeria Syndrome
Absent eyebrow, Alopecia, Absent eyelashes, Sparse eyebrow, Decreased body weight, Sparse hair, F... ORPHA:2985
Rhyns Syndrome
Renal insufficiency, Decreased response to growth hormone stimulation test, Chronic kidney diseas... OMIM:602152
Glycogen Storage Disease Vi
Failure to thrive in infancy, Hypoglycemia OMIM:232700
Nance-Horan Syndrome
Mandibular prognathia, Supernumerary tooth, Abnormality of the dentition ORPHA:627
Robinow Syndrome, Autosomal Dominant 2
Thin upper lip vermilion, Dental crowding, Cleft soft palate, Micrognathia, Abnormality of the de... OMIM:616331
Johanson-Blizzard Syndrome
Hypoplasia of penis, Alopecia, Diabetes mellitus, Hypospadias, Abnormal hair pattern, Failure to ... ORPHA:2315
Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome
Renal insufficiency, Ectopic kidney, Horseshoe kidney, Bicornuate uterus, Labial hypoplasia, Vesi... ORPHA:140952
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hypoglycemia, Dysmenorrhea, Abnormal erythrocyte enzyme level, Splenomegaly, Irregular menstruati... ORPHA:264580
Linear Skin Defects With Multiple Congenital Anomalies 1
Hypospadias, Ovotestis, Hypoplasia of the uterus, Chordee, Micropenis, Clitoral hypertrophy OMIM:309801
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Thin upper lip vermilion, Exaggerated startle response, Tented upper lip vermilion, Abnormality o... ORPHA:438216
Spinocerebellar Ataxia 48
Urinary incontinence, Cachexia OMIM:618093
Yunis-Varon Syndrome
Sparse scalp hair, Sparse eyelashes, Hypospadias, Hypertelorism, Sparse eyebrow, Cryptorchidism, ... ORPHA:3472
Trichodermodysplasia-Dental Alterations Syndrome
Delayed eruption of teeth, Sparse scalp hair, Brittle hair, Abnormal dental morphology, Supernume... ORPHA:3353
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Alopecia, Leukocytosis, Renal hypoplasia, Deeply set eye, Abdominal obesity, Hypoplasia of the ov... OMIM:619321
Intellectual Developmental Disorder, X-Linked 97
Obesity OMIM:300803
Chromosome 17Q12 Duplication Syndrome
Esophageal atresia, Cleft soft palate, Smooth philtrum, Micrognathia OMIM:614526
Noonan Syndrome 9
Curly hair, Hydroureter, Hypertelorism, Sparse eyebrow, Cryptorchidism OMIM:616559
Deafness, Congenital, With Inner Ear Agenesis, Microtia, And Microdontia
Conical tooth, Micrognathia, Widely spaced teeth, Peg-shaped maxillary lateral incisors, Microdontia OMIM:610706
Johanson-Blizzard Syndrome
Sparse scalp hair, Failure to thrive, Diabetes mellitus, Hypospadias, Small for gestational age, ... OMIM:243800
Hyperinsulinemic Hypoglycemia, Familial, 1
Large for gestational age OMIM:256450
Hemifacial Hyperplasia With Strabismus
Submucous cleft hard palate OMIM:141350
Temtamy Preaxial Brachydactyly Syndrome
Abnormal spaced incisors, Micrognathia, Hypoplasia of the maxilla, Abnormality of the dentition, ... ORPHA:363417
Mitochondrial Complex Iii Deficiency, Nuclear Type 3
Alaninuria, Hypoglycemia OMIM:615158
Cardiofaciocutaneous Syndrome 2
Sparse hair, Curly hair, Absent eyebrow, Fine hair OMIM:615278
Neurodevelopmental Disorder With Hypotonia, Seizures, And Absent Language
Sparse eyebrow, Deeply set eye, Thick eyebrow OMIM:617268
Late-Onset Isolated Acth Deficiency
Normocytic anemia, Hypoparathyroidism, Macrocytic anemia, Decreased circulating cortisol level, P... ORPHA:199299
Alport Syndrome
Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease, Hematuria, Nephrotic syndrome, ... ORPHA:63
Mitochondrial Complex I Deficiency, Nuclear Type 39
Small for gestational age, Cryptorchidism, Hypospadias, Anemia OMIM:620135
Immunodeficiency 26 With Or Without Neurologic Abnormalities
T lymphocytopenia, Deeply set eye, B lymphocytopenia, Micropenis, Abnormal natural killer cell mo... OMIM:615966
X-Linked Acrogigantism
Decreased thyroid-stimulating hormone level, Enlarged pituitary gland, Increased body mass index,... ORPHA:300373
Whipple Disease
Cachexia, Splenomegaly, Insulin resistance, Proptosis, Erectile dysfunction, Hypothyroidism, Anemia ORPHA:3452
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Brittle hair, Sparse eyelashes, Abnormality of hair texture, Sparse eyebrow, Progressive hypotric... OMIM:225060
Wolfram Syndrome 1
Sideroblastic anemia, Neurogenic bladder, Diabetes mellitus, Diabetes insipidus, Hydroureter, Meg... OMIM:222300
Pili Torti-Onychodysplasia Syndrome
Absent eyebrow, Alopecia, Brittle hair, Absent eyelashes, Nail dystrophy, Trichodysplasia, Congen... ORPHA:2890
Microduplication Xp11.22P11.23 Syndrome
Toe syndactyly, Obesity ORPHA:217377
Trichothiodystrophy 3, Photosensitive
Failure to thrive, Brittle hair, Bilateral cryptorchidism, Hypotelorism, Neutropenia, Tiger tail ... OMIM:616395
Basilicata-Akhtar Syndrome
Precocious puberty, Deeply set eye, Neonatal hypoglycemia OMIM:301032
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Premature ovarian insufficiency, Hypospadias, Endometriosis, Unilateral renal agenesis, Horseshoe... ORPHA:363444
X-Linked Intellectual Disability-Global Development Delay-Facial Dysmorphism-Sacral Caudal Remnant Syndrome
Synophrys, Obesity, Deeply set eye, Long eyelashes, Thick eyebrow ORPHA:480907
2Q32Q33 Microdeletion Syndrome
Sparse hair, Decreased testicular size, Fine hair ORPHA:251019
Trichohepatoenteric Syndrome 2
Brittle hair, Small for gestational age, Hypertelorism, Uncombable hair, Sparse hair, Woolly hair... OMIM:614602
Oculodentodigital Dysplasia, Autosomal Recessive
Delayed eruption of teeth, Sparse eyelashes, Dental crowding, Micrognathia, Hypoplasia of the max... OMIM:257850
Bardet-Biedl Syndrome 22
Postaxial foot polydactyly, Polydactyly, Obesity, Large for gestational age OMIM:617119
Bloom Syndrome
Malar flattening, Agenesis of maxillary lateral incisor, Hypertrichosis OMIM:210900
Naxos Disease
Woolly hair, Sparse scalp hair, Curly hair, Abnormality of hair texture ORPHA:34217
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type
Small scrotum, Cryptorchidism, Hypotelorism, Deeply set eye, Microphallus, Micropenis OMIM:300486
Spinocerebellar Ataxia 32
Azoospermia, Testicular atrophy, Infertility OMIM:613909
Prolactinoma
Male hypogonadism, Hypogonadotropic hypogonadism, Decreased fertility in males, Delayed puberty, ... ORPHA:2965
Glycogen Storage Disease 0, Liver
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia OMIM:240600
Summitt Syndrome
Finger syndactyly, Camptodactyly of finger, Obesity, Genu valgum, Short palm, Clinodactyly of the... ORPHA:3210
Galloway-Mowat Syndrome 5
Proteinuria, Hypertelorism, Stage 5 chronic kidney disease, Deeply set eye, Focal segmental glome... OMIM:617731
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7
Cryptorchidism, Premature graying of hair, Anemia, Nail dystrophy, Type I diabetes mellitus, Lymp... OMIM:620365
Acute Adrenal Insufficiency
Normocytic anemia, Decreased circulating cortisol level, Renal insufficiency, Decreased female li... ORPHA:95409
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Anisocytosis, Anemia of inadequate production, Cryptorchidism, Macrothrombocytopenia, Poikilocyto... ORPHA:67044
Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures
Clinodactyly of the 5th finger, Syndactyly, Obesity, Tapered finger OMIM:618725
Immunodeficiency, Common Variable, 10
Trachyonychia, Hypoglycemia, Alopecia totalis, Decreased response to growth hormone stimulation t... OMIM:615577
Horner Syndrome, Congenital
Deeply set eye OMIM:143000
Insulin-Like Growth Factor I, Resistance To
Sparse scalp hair, Diabetes mellitus, Highly arched eyebrow, Synophrys, Increased circulating ins... OMIM:270450
Johnson Neuroectodermal Syndrome
Absent eyebrow, Alopecia, Absent eyelashes, Hypohidrosis, Hypogonadism, Sparse hair, Failure to t... ORPHA:2316
Oculofaciocardiodental Syndrome
Delayed eruption of teeth, Intestinal malrotation, Highly arched eyebrow, Abnormality of the dent... ORPHA:2712
Short Syndrome
Small for gestational age, Insulin-resistant diabetes mellitus, Insulin resistance, Deeply set ey... OMIM:269880
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Alopecia, Small scrotum, Highly arched eyebrow, Synophrys, Abnormality of the ureter, Dystrophic ... ORPHA:3253
Palmoplantar Keratoderma And Congenital Alopecia 1
Alopecia, Brittle hair, Sparse eyebrow, Leukonychia, Nail dysplasia, Sparse hair OMIM:104100
Congenital Muscular Dystrophy Due To Lmna Mutation
Cachexia ORPHA:157973
Schimke Immunoosseous Dysplasia
Pancytopenia, Renal insufficiency, Proteinuria, Small for gestational age, Bilateral cryptorchidi... OMIM:242900
Majeed Syndrome
Failure to thrive, Proteinuria, Cachexia, Congenital hypoplastic anemia, Splenomegaly, Leukocytos... ORPHA:77297
Auriculocondylar Syndrome 3
Glossoptosis, Retrognathia, Bifid uvula, Micrognathia OMIM:615706
Cutis Laxa, Autosomal Recessive, Type Iiib
Hypertelorism, Cryptorchidism, Fine hair, Deeply set eye, Sparse hair OMIM:614438
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome
Cryptorchidism, Deeply set eye, 3-Methylglutaconic aciduria, Delayed puberty ORPHA:496790
Craniosynostosis 2
Supernumerary tooth, Cleft soft palate OMIM:604757
Trichothiodystrophy 8, Nonphotosensitive
Sparse eyebrow, Hypotelorism, Sparse hair, Woolly hair, Trichorrhexis nodosa OMIM:619691
Intellectual Developmental Disorder With Speech Delay, Autism, And Dysmorphic Facies
Deeply set eye, Hypertelorism, Low posterior hairline, Hypotelorism OMIM:618672
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Urinary incontinence, Hypertelorism, Puberty and gonadal disorders, Obesity, Deeply set eye ORPHA:464282
Myotonia With Skeletal Abnormalities And Mental Retardation
Skeletal muscle hypertrophy, Irregular femoral epiphysis, Firm muscles, Genu valgum OMIM:255710
Hypothyroidism, Congenital, Nongoitrous, 6
Macroglossia, Increased body mass index, Increased body weight OMIM:614450
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome
Multiple joint contractures, Centrally nucleated skeletal muscle fibers, Overweight, Limb muscle ... ORPHA:486815
Genitopatellar Syndrome
Sparse scalp hair, Multicystic kidney dysplasia, Small scrotum, Enlarged labia minora, Cryptorchi... OMIM:606170
Stormorken-Sjaastad-Langslet Syndrome
Asplenia, Deeply set eye, Anemia ORPHA:3204
Spinocerebellar Ataxia Type 32
Male infertility, Azoospermia, Testicular atrophy ORPHA:276183
Odontoonychodermal Dysplasia
Sparse scalp hair, Dry hair, Short nail, Sparse eyebrow, Abnormality of primary teeth, Fine hair,... OMIM:257980
Dilated Cardiomyopathy With Ataxia
Hypoplasia of penis, Bilateral cryptorchidism, Hypochromic microcytic anemia, Perineal hypospadia... ORPHA:66634
D-Glyceric Aciduria
Hypoglycemia, Deeply set eye, Aminoaciduria, Micropenis, Failure to thrive OMIM:220120
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome
Brachydactyly, Bifid distal phalanx of the thumb, Overweight, Triangular shaped distal phalanx of... ORPHA:370010
Hypotrichosis 13
Sparse hair, Woolly hair, Sparse eyelashes, Abnormal sweat gland morphology OMIM:615896
Anemia, Hypochromic Microcytic, With Iron Overload 2
Splenomegaly, Decreased mean corpuscular volume, Azoospermia, Hypogonadism, Poikilocytosis, Hypoc... OMIM:615234
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Elevated urinary 3-hydroxybutyric acid, Dicarboxylic aciduria, Hypoglycemia, Cachexia ORPHA:42
20P13 Microdeletion Syndrome
Failure to thrive in infancy, Highly arched eyebrow, Hypertelorism, Synophrys, Deeply set eye, Sm... ORPHA:313781
Robinow Syndrome, Autosomal Recessive 2
Cleft soft palate, Micrognathia, Abnormality of the dentition, Gingival overgrowth, Long eyelashe... OMIM:618529
Noonan Syndrome 5
Curly hair, Hypertelorism, Sparse eyebrow, Cryptorchidism, Large for gestational age, Fine hair, ... OMIM:611553
Macrocephaly/Autism Syndrome
Penile freckling, Large for gestational age, Splenomegaly, Obesity, Hydrocele testis, Coarse hair... OMIM:605309
Blue Diaper Syndrome
Elevated circulating thyroid-stimulating hormone concentration, Increased body weight, Increased ... ORPHA:94086
Bainbridge-Ropers Syndrome
Thick eyebrow, Highly arched eyebrow, Hypertelorism, Supernumerary nipple, Precocious puberty, Sy... OMIM:615485
Hypotrichosis And Recurrent Skin Vesicles
Sparse scalp hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow, Leukonychia, Sparse ha... OMIM:613102
Heyn-Sproul-Jackson Syndrome
Sparse hair OMIM:618724
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Alopecia, Severe B lymphocytopenia, Decreased circulating cortisol level, Alopecia totalis, Decre... ORPHA:293978
Amed Syndrome, Digenic
Acute myeloid leukemia, Adrenal hypoplasia, Anemia, Leukopenia, Hypoplasia of the uterus, Failure... OMIM:619151
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies
Sparse hair, Deeply set eye, Patchy alopecia, Hypothyroidism OMIM:617763
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence
Submucous cleft hard palate, Posteriorly placed tongue, Pierre-Robin sequence OMIM:192445
X-Linked Intellectual Disability, Schimke Type
Vesicoureteral reflux, Deeply set eye, Failure to thrive in infancy, Hydronephrosis ORPHA:85285
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Sparse scalp hair, Alopecia, Absent eyebrow, Absent eyelashes, Hydrocele testis, Sparse body hair ORPHA:69735
Woolly Hair, Autosomal Dominant
Abnormal eyebrow morphology, Dry hair, Slow-growing hair, Abnormal eyelash morphology, Coarse hai... OMIM:194300
Smith-Magenis Syndrome
Failure to thrive in infancy, Hypertelorism, Precocious puberty, Synophrys, Abnormality of the ur... ORPHA:819
Progressive Hemifacial Atrophy
Deeply set eye ORPHA:1214
Rapp-Hodgkin Syndrome
Conical tooth, Hypoplasia of the maxilla, Sparse hair, Microdontia, Bifid uvula, Cleft upper lip,... OMIM:129400
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Deeply set eye, Synophrys, Long eyelashes, Failure to thrive in infancy OMIM:619064
Chromosome 22Q11.2 Deletion Syndrome, Distal
Deeply set eye, Highly arched eyebrow OMIM:611867
Nabais Sa-De Vries Syndrome, Type 2
Multicystic kidney dysplasia, Failure to thrive in infancy, Hypertelorism, Sparse eyebrow, Deeply... OMIM:618829
Nabais Sa-De Vries Syndrome, Type 1
Highly arched eyebrow, Synophrys, Low anterior hairline, Deeply set eye, Long eyelashes, Vesicour... OMIM:618828
Combined Pituitary Hormone Deficiencies, Genetic Forms
Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypogonadotropic hypogonadism, Ant... ORPHA:95494
Cohen Syndrome
Micrognathia, Hypoplasia of the maxilla, High, narrow palate, Short philtrum, Macrodontia of perm... OMIM:216550
46,Xx Ovotesticular Difference Of Sex Development
Bifid scrotum, Abnormal male internal genitalia morphology, Hypoplasia of penis, Small scrotum, H... ORPHA:2138
Glucocorticoid Deficiency 1
Decreased circulating cortisol level, Abnormal circulating renin, Increased circulating ACTH leve... OMIM:202200
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Mandibular prognathia, Thick lower lip vermilion, Submucous cleft hard palate, Head-banging, Wide... OMIM:619103
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia
Microdontia, Agenesis of molar, Supernumerary tooth, Diastema OMIM:619718
Combined Oxidative Phosphorylation Deficiency 52
Renal insufficiency, Hypoglycemia, Lacticaciduria, Aminoaciduria, Adrenal insufficiency, Pancreat... OMIM:619386
Barth Syndrome
Failure to thrive, Cyclic neutropenia, Abnormal mitochondrial morphology, Hypochromic microcytic ... OMIM:302060
Pituitary Gigantism
Elevated circulating growth hormone concentration, Amenorrhea, Hyperhidrosis, Increased circulati... ORPHA:99725
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Failure to thrive, Proteinuria, Hypoglycemia, Delayed puberty ORPHA:369
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome
Hypoplasia of penis, Hypogonadotropic hypogonadism, Sparse body hair, Hypertelorism ORPHA:3068
Glycosylphosphatidylinositol Biosynthesis Defect 25
Sparse hair, Coarse hair OMIM:619985
Tooth Agenesis, Selective, 4
Sparse scalp hair, Sparse eyebrow, Abnormality of primary teeth, Agenesis of permanent teeth, Too... OMIM:150400
Noonan Syndrome 8
Curly hair, Large for gestational age, Hypertelorism, Cryptorchidism, Failure to thrive OMIM:615355
Transaldolase Deficiency
Thrombocytopenia, Abnormality of the clitoris, Anemia, Hepatosplenomegaly ORPHA:101028
Multiple Epiphyseal Dysplasia, Lowry Type
Cleft hard palate, Micrognathia ORPHA:166016
Pulmonary Blastoma
Weight loss ORPHA:64741
Schilbach-Rott Syndrome
Micrognathia, Submucous cleft hard palate, Attention deficit hyperactivity disorder, Narrow mouth... OMIM:164220
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypoglycemia ORPHA:366
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy
Nephropathy, Proptosis, Proteinuria, Cachexia ORPHA:2774
Faciocardiomelic Dysplasia, Lethal
Micrognathia, Narrow mouth, Neonatal death, Microglossia, Retrognathia OMIM:227270
Blepharocheilodontic Syndrome 1
Hypertelorism, Nail dysplasia, Small nail, Sparse hair, High anterior hairline, Distichiasis OMIM:119580
Neurodevelopmental Disorder With Or Without Autism Or Seizures
Hyperactivity, Submucous cleft hard palate, Bifid uvula OMIM:619239
Osteopenia-Intellectual Disability-Sparse Hair Syndrome
Sparse scalp hair, Fine hair, Hypertelorism ORPHA:2324
Sabinas Brittle Hair Syndrome
Dry hair, Brittle hair, Nail dystrophy, Nail dysplasia, Sparse hair OMIM:211390
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections
Supernumerary tooth, High palate, Persistence of primary teeth OMIM:619752
Fowler Urethral Sphincter Dysfunction Syndrome
Dysuria, Urinary incontinence, Abnormality of the urethra, Polycystic ovaries, Urinary retention,... ORPHA:2795
Ectodermal Dysplasia 15, Hypohidrotic/Hair Type
Sparse scalp hair, Sparse eyelashes, Slow-growing hair, Sparse hair, Sparse body hair OMIM:618535
X-Linked Intellectual Disability-Cubitus Valgus-Dysmorphism Syndrome
Deeply set eye, Truncal obesity ORPHA:85280
Vertebral Hypersegmentation And Orofacial Anomalies
Supernumerary nipple, Micrognathia, Widow's peak, Submucous cleft hard palate, Unilateral cleft l... OMIM:619122
Neurodevelopmental Disorder With Speech Delay And Variable Ocular Anomalies
Sparse hair, Sparse eyebrow, Hypertelorism OMIM:619989
Kury-Isidor Syndrome
Deeply set eye, Alopecia, Hydronephrosis, Hypertrichosis OMIM:619762
46,Xy Sex Reversal 7
Streak ovary, Hypoplasia of the fallopian tube, Primary amenorrhea, Hypoplasia of the uterus, Sex... OMIM:233420
Scarf Syndrome
Bifid scrotum, Cryptorchidism, Low posterior hairline, Perineal hypospadias, Hypoplastic nipples,... ORPHA:3134
Dyskeratosis Congenita
Neoplasm of the pancreas, Abnormal eyebrow morphology, Alopecia, Diabetes mellitus, Abnormal fing... ORPHA:1775
Dyskeratosis Congenita, Autosomal Dominant 3
Urethral stricture, Pancytopenia, Alopecia, Aplastic anemia, Cryptorchidism, Urethral stenosis, F... OMIM:613990
Ruijs-Aalfs Syndrome
Premature graying of hair, Hypogonadism, Sparse hair, Decreased body weight OMIM:616200
X-Linked Intellectual Disability-Cerebellar Hypoplasia Syndrome
Deeply set eye ORPHA:137831
Trisomy 18
Cachexia, Hypertelorism, Cryptorchidism, Cyclopia, Abnormal morphology of female internal genital... ORPHA:3380
Intellectual Developmental Disorder, Autosomal Recessive 5
Hypertelorism, Synophrys, Hypotelorism, Sparse hair, Thick eyebrow OMIM:611091
Congenital Disorder Of Glycosylation, Type Iif
Proteinuria, Macrothrombocytopenia, Hypotelorism, Deeply set eye, Aminoaciduria, Neutropenia, Thr... OMIM:603585
Congenital Disorder Of Glycosylation, Type 2V
Hydrocele testis, Deeply set eye, Low posterior hairline, Hypertelorism OMIM:619493
Short Chain Acyl-Coa Dehydrogenase Deficiency
Failure to thrive, Ethylmalonic aciduria, Ketotic hypoglycemia, Increased level of methylsuccinic... ORPHA:26792
Mantle Cell Lymphoma
Splenomegaly, Weight loss ORPHA:52416
Combined Oxidative Phosphorylation Deficiency 41
Decreased circulating cortisol level, Hypoglycemia, Anemia OMIM:618838
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2
Failure to thrive in infancy, Cachexia OMIM:616801
Copper Deficiency, Familial Benign
Curly hair, Early balding, Anemia OMIM:121270
Peripheral Primitive Neuroectodermal Tumor
Neoplasm of the pancreas, Metrorrhagia, Precocious puberty, Ovarian neoplasm, Weight loss, Propto... ORPHA:370348
Hemochromatosis, Type 2B
Secondary amenorrhea, Splenomegaly, Hypogonadism, Anemia OMIM:613313
Glycogen Storage Disease Iii
Deeply set eye, Hypoglycemia OMIM:232400
Epidermolysis Bullosa Simplex 5C, With Pyloric Atresia
Deeply set eye OMIM:612138
Hypotrichosis With Juvenile Macular Degeneration
Sparse scalp hair, Brittle hair, Pili torti, Fine hair ORPHA:1573
Brody Disease
Skeletal muscle hypertrophy, Flexion contracture OMIM:601003
Anemia, Congenital Dyserythropoietic, Type Ib
Reticulocytosis, Anisocytosis, Anemia of inadequate production, Splenomegaly, Poikilocytosis, Sma... OMIM:615631
Tremor-Ataxia-Central Hypomyelination Syndrome
Deeply set eye, Hypogonadotropic hypogonadism, Delayed puberty ORPHA:447896
Trichothiodystrophy 1, Photosensitive
Brittle hair, Trichoschisis, Small for gestational age, Fine hair, Fragile nails, Hypogonadism, N... OMIM:601675
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Hypogonadotropic hypogo... ORPHA:226307
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome
Alopecia, Brittle hair, Abnormality of the anterior pituitary, Renal hypoplasia, Coarse hair, Pos... ORPHA:75389
Poems Syndrome
Diabetes mellitus, Abnormality of the endocrine system, Hypothyroidism, Primary adrenal insuffici... ORPHA:2905
6P22 Microdeletion Syndrome
Deeply set eye, Hydronephrosis, Hypotelorism ORPHA:251046
Intellectual Disability-Muscle Weakness-Short Stature-Facial Dysmorphism Syndrome
Deeply set eye, Highly arched eyebrow ORPHA:457365
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Dysmenorrhea, Ketotic hypoglycemia, Splenomegaly, Irregular menstruation, Increased body weight, ... ORPHA:79240
Thymic Neuroendocrine Tumor
Calcium nephrolithiasis, Pituitary null cell adenoma, Pancreatic islet cell adenoma, Neoplasm of ... ORPHA:97289
Cataract-Growth Hormone Deficiency-Sensory Neuropathy-Sensorineural Hearing Loss-Skeletal Dysplasia Syndrome
Fasting hypoglycemia, Decreased response to growth hormone stimulation test, Thick eyebrow ORPHA:436174
Roberts-Sc Phocomelia Syndrome
Accessory spleen, Hypospadias, Enlarged labia minora, Hypertelorism, Cryptorchidism, Long penis, ... OMIM:268300
Cutis Laxa, Autosomal Recessive, Type Iiia
Hypertelorism, Cryptorchidism, Hypotelorism, Sparse hair, Failure to thrive OMIM:219150
Hydrolethalus
Micrognathia, Submucous cleft hard palate, Cleft palate, Gingival cleft, Unilateral cleft lip, Re... ORPHA:2189
Hallermann-Streiff Syndrome
Sparse scalp hair, Natal tooth, Hyperactivity, Sparse eyelashes, Selective tooth agenesis, Microg... OMIM:234100
Chromosome 1Q41-Q42 Deletion Syndrome
Supernumerary nipple, Hypertelorism, Sparse eyebrow, Cryptorchidism, Hypotelorism, Deeply set eye... OMIM:612530
Hemochromatosis, Type 3
Hypogonadotropic hypogonadism, Impotence, Neutropenia, Lymphopenia, Anemia, Amenorrhea OMIM:604250
Reticular Dysgenesis
Abnormality of neutrophils, Weight loss, Leukopenia, Failure to thrive, Aplasia/Hypoplasia of the... ORPHA:33355
Autosomal Dominant Hypohidrotic Ectodermal Dysplasia
Sparse hair, Abnormal fingernail morphology, Sparse body hair ORPHA:1810
Chopra-Amiel-Gordon Syndrome
Deeply set eye, High anterior hairline, Unilateral renal agenesis OMIM:619504
Metaphyseal Chondrodysplasia, Schmid Type
Broad proximal phalanges of the hand, Bowing of the legs, Short tubular bones of the hand, Proxim... ORPHA:174
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate
Vaginal dryness, Sparse eyelashes, Hyperconvex nail, Supernumerary nipple, Hypospadias, Absent ey... OMIM:106260
Ring Chromosome 10 Syndrome
Cachexia, Hypertelorism ORPHA:1438
Dyskeratosis Congenita, Autosomal Recessive 2
Pancytopenia, Testicular atrophy, Nail dystrophy, Thrombocytopenia OMIM:613987
Amish Lethal Microcephaly
Death in infancy, Cleft soft palate, Micrognathia ORPHA:99742
Encephalopathy Due To Sulfite Oxidase Deficiency
Deeply set eye, Aminoaciduria ORPHA:833
Smith-Magenis Syndrome
Abnormality of the thyroid gland, Deeply set eye, Synophrys, Increased body weight OMIM:182290
Bardet-Biedl Syndrome 4
Syndactyly, Polydactyly, Obesity, Brachydactyly OMIM:615982
Congenital Disorder Of Glycosylation, Type Ig
Small scrotum, Hypospadias, Small for gestational age, Hypoglycemia, Cryptorchidism, Micropenis, ... OMIM:607143
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skeletal Anomalies, With Or Without Seizures
Hypoglycemia, Cryptorchidism, Low anterior hairline, Deeply set eye, Micropenis OMIM:620224
Ulbright-Hodes Syndrome
Abnormal penis morphology, Abnormal external genitalia, Enlarged labia minora, Maternal diabetes,... ORPHA:3404
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
External genital hypoplasia, Cryptorchidism, Fine hair, Deeply set eye, Sparse hair, Micropenis, ... ORPHA:251028
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Proximal muscle weakness in upper limbs, Scapular winging, Achilles tendon contracture, Type 1 mu... ORPHA:98855
Autosomal Dominant Centronuclear Myopathy
Proximal muscle weakness in upper limbs, Centrally nucleated skeletal muscle fibers, Large for ge... ORPHA:169189
Combined Oxidative Phosphorylation Deficiency 31
Deeply set eye, Failure to thrive OMIM:617228
Alopecia Antibody Deficiency
Abnormal eyelash morphology, Sparse hair, Aplasia/Hypoplasia of the eyebrow, Sparse body hair ORPHA:1006
Erythrocytosis, Familial, 4
Increased hematocrit, Polycythemia, Increased hemoglobin, Elevated circulating erythropoietin con... OMIM:611783
Dermoodontodysplasia
Sparse scalp hair, Fingernail dysplasia, Trichodysplasia, Toenail dysplasia, Sparse body hair ORPHA:1660
Propionic Acidemia
Pancytopenia, Increased level of hippuric acid in urine, Hypoglycemia, Hyperglycinuria, Anemia, N... OMIM:606054
Noonan Syndrome 4
Curly hair, Ureteral duplication, Hypertelorism, Sparse eyebrow, Cryptorchidism, Large for gestat... OMIM:610733
Chromosome 2Q37 Deletion Syndrome
Deeply set eye, Hypothyroidism, Obesity, Highly arched eyebrow OMIM:600430
Congenital Myopathy 9A
EMG: myopathic abnormalities, Obesity OMIM:618822
Chromosome 19Q13.11 Deletion Syndrome, Distal
Bifid scrotum, Sparse eyelashes, Hypospadias, Sparse eyebrow, Cryptorchidism, Nail dysplasia, Spa... OMIM:613026
Satb2-Associated Syndrome Due To A Pathogenic Variant
Deeply set eye, Abnormality of globe location ORPHA:576283
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Increased T cell count, Hypohidrosis, Nail dystrophy, Increased B cell count, Sparse hair, Hypopi... ORPHA:98813
Combined Malonic And Methylmalonic Acidemia
Failure to thrive, Dicarboxylic aciduria, Hypoglycemia, Methylmalonic aciduria ORPHA:289504
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
Deeply set eye, Highly arched eyebrow, Decreased body weight OMIM:618342
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Proteinuria, Large for gestational age, Hyperinsulinemia, Increased body weight, Hyperhidrosis, R... ORPHA:263455
Myotonic Dystrophy 1
Hypogonadism, Cholelithiasis, Testicular atrophy, Frontal balding OMIM:160900
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency
Bifid scrotum, Adrenal hyperplasia, Hypospadias, Scrotal hypospadias, Cryptorchidism, Male pseudo... OMIM:201810
Intellectual Developmental Disorder With Dysmorphic Facies And Behavioral Abnormalities
Deeply set eye, Long eyelashes, Obesity, Hypertelorism OMIM:618089
Ectodermal Dysplasia/Skin Fragility Syndrome
Absent eyebrow, Absent eyelashes, Nail dystrophy, Sparse hair, Alopecia of scalp, Dystrophic fing... OMIM:604536
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Unilateral renal agenesis, Cryptorchidism, Renal hypoplasia, Deeply set eye, Hydronephrosis OMIM:618494
3-Methylcrotonyl-Coa Carboxylase Deficiency
Organic aciduria, Failure to thrive in infancy, Hypoglycemia ORPHA:6
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Failure to thrive, Increased urine succinate level, Hypoglycemia OMIM:619048
8Q22.1 Microdeletion Syndrome
Sparse eyelashes, Abnormal hair pattern, Highly arched eyebrow, Sparse eyebrow, Hypoplasia of the... ORPHA:178303
Neonatal Hemochromatosis
Hypoglycemia ORPHA:446
Acute Myelomonocytic Leukemia
Eosinophilia, Leukocytosis, Weight loss, Anemia, Thrombocytopenia ORPHA:517
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive
Skeletal muscle atrophy, Achilles tendon contracture, Ragged-red muscle fibers, Obesity, Left ven... OMIM:615418
Congenital Primary Megaureter
Abnormal penis morphology, Nephrolithiasis, Congenital megaureter, Vesicoureteral reflux, Microsc... ORPHA:617
Mandibuloacral Dysplasia With Type B Lipodystrophy
Alopecia, Brittle hair, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Stage 5 chronic ki... OMIM:608612
Cleft Palate With Or Without Ankyloglossia, X-Linked
Ankyloglossia, Bifid uvula, Cleft palate OMIM:303400
46,Xy Sex Reversal 10
Bifid scrotum, Small scrotum, Hypospadias, Ovotestis, Testicular dysgenesis, Perineal hypospadias... OMIM:616425
Pituitary Adenoma 1, Multiple Types
Elevated circulating growth hormone concentration, Pituitary adenoma, Irregular menstruation, Inc... OMIM:102200
Multiple Endocrine Neoplasia, Type I
Hypoglycemia, Pancreatic islet cell adenoma, Elevated circulating growth hormone concentration, P... OMIM:131100
Erythrocytosis, Familial, 5
Increased hematocrit, Polycythemia, Increased hemoglobin, Elevated circulating erythropoietin con... OMIM:617907
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Delayed eruption of teeth, Smooth philtrum, Hyperactivity, Rectal prolapse, Gingival overgrowth, ... OMIM:235510
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome
Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Splenomegaly, Scarring alopecia of scalp, Sp... ORPHA:59303
Mccune-Albright Syndrome
Hyperthyroidism, Precocious puberty, Renal phosphate wasting, Ovarian cyst, Increased circulating... ORPHA:562
Bazex-Dupre-Christol Syndrome
Coarse hair, Sparse hair, Trichoepithelioma, Pili torti, Trichorrhexis nodosa OMIM:301845
Nephronophthisis 15
Polydactyly, Obesity OMIM:614845
Holoprosencephaly
Hypoplasia of penis, Diabetes mellitus, Proteinuria, Failure to thrive in infancy, Highly arched ... ORPHA:2162
Pituitary Carcinoma
Enlarged pituitary gland, Elevated circulating growth hormone concentration, Pituitary corticotro... ORPHA:300385
Duplication Of The Pituitary Gland
Supernumerary tooth, Abnormality of the tongue, Cleft palate, Wide mouth, Volvulus, Retrognathia,... ORPHA:314621
Chromosome 14Q11-Q22 Deletion Syndrome
Unilateral cryptorchidism, Anterior pituitary hypoplasia, Hypertelorism, Bilateral cryptorchidism... OMIM:613457
Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome
Curly hair, Curly eyelashes, Multiple rows of eyelashes, Cryptorchidism, Low posterior hairline, ... ORPHA:163654
Deeah Syndrome
Decreased hemoglobin concentration, Anterior pituitary hypoplasia, Decreased response to growth h... OMIM:619004
Emanuel Syndrome
Unilateral renal agenesis, Cryptorchidism, Renal hypoplasia, Deeply set eye, Hypogonadism, Infert... ORPHA:96170
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly
Curly hair, Hypertelorism, Sparse eyebrow, Hyposegmentation of neutrophil nuclei, Synophrys, Spar... OMIM:620075
Autosomal Recessive Spastic Paraplegia Type 77
Paroxysmal dystonia, Neuromuscular dysphagia, Dystonia, Macrodontia of permanent maxillary centra... ORPHA:466722
Cardiofaciocutaneous Syndrome 4
Absent eyebrow, Curly hair, Sparse eyelashes, Decreased response to growth hormone stimulation te... OMIM:615280
Emanuel Syndrome
Unilateral renal agenesis, Cryptorchidism, Renal hypoplasia, Deeply set eye, Micropenis, Failure ... OMIM:609029
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Dominant
Deeply set eye OMIM:614254
5Q14.3 Microdeletion Syndrome
Deeply set eye, Thick eyebrow ORPHA:228384
Chromosome Xq13 Duplication Syndrome
Medial flaring of the eyebrow, Highly arched eyebrow, Autoimmune thrombocytopenia, Deeply set eye... OMIM:301069
Sanjad-Sakati Syndrome
Hypoparathyroidism, Hypoplasia of penis, Cryptorchidism, Deeply set eye, Congenital hypoparathyro... ORPHA:2323
Recon Progeroid Syndrome
Hyperconvex thumb nails, Hirsutism, Absent lower eyelashes, Anemia, Deeply set eye, Thrombocytopenia OMIM:620370
Pyridoxal Phosphate-Responsive Seizures
Pyridoxine-responsive sideroblastic anemia, Failure to thrive, Hypoglycemia ORPHA:79096
Multiple Endocrine Neoplasia Type 4
Hyperparathyroidism, Pituitary corticotropic cell adenoma, Fasting hyperinsulinemia, Elevated cir... ORPHA:276152
Nizon-Isidor Syndrome
Sparse eyebrow, Deeply set eye, Hypospadias, Hypertelorism OMIM:618872
Peters-Plus Syndrome
Thin upper lip vermilion, Short lingual frenulum, Bilateral cleft lip, Exaggerated cupid's bow, M... OMIM:261540
Shashi-Pena Syndrome
Hypoglycemia, Highly arched eyebrow, Hypertelorism, Unilateral renal agenesis, Synophrys, Proptos... OMIM:617190
Congenital Heart Defects And Skeletal Malformations Syndrome
Medial flaring of the eyebrow, Hypospadias, Cryptorchidism, Deeply set eye, Failure to thrive OMIM:617602
Spastic Paraplegia-Intellectual Disability-Nystagmus-Obesity Syndrome
Deeply set eye, Obesity ORPHA:521390
Orofaciodigital Syndrome I
Microretrognathia, Alopecia, Dry hair, Median cleft lip, Hamartoma of tongue, Cleft upper lip, Ca... OMIM:311200
Trichothiodystrophy 7, Nonphotosensitive
Tiger tail banding, Brittle hair OMIM:618546
Hamamy Syndrome
Hypoparathyroidism, Sparse eyelashes, Hypertelorism, Microcytic anemia, Sparse eyebrow, Cryptorch... OMIM:611174
Developmental And Epileptic Encephalopathy 64
Highly arched eyebrow, Sparse eyebrow, Low anterior hairline, Deeply set eye, Long eyelashes, Thi... OMIM:618004
Rothmund-Thomson Syndrome, Type 2
Mandibular prognathia, Absent eyebrow, Alopecia, Sparse scalp hair, Sparse eyelashes, Delayed eru... OMIM:268400
Bannayan-Riley-Ruvalcaba Syndrome
Neoplasm of the adrenal cortex, Hypoglycemia, Cachexia, Thyroid carcinoma, Hashimoto thyroiditis,... ORPHA:109
Focal Facial Dermal Dysplasia Type Iii
Sparse lower eyelashes, Abnormal hair pattern, Highly arched eyebrow, Sparse hair, Distichiasis, ... ORPHA:1807
Ectodermal Dysplasia-Sensorineural Deafness Syndrome
Sparse hair, Coarse hair, Brittle hair ORPHA:1883
Cranioectodermal Dysplasia
Sparse hair, Abnormal toenail morphology, Abnormal fingernail morphology, Hypotelorism ORPHA:1515
Chops Syndrome
Curly hair, Thick hair, Hypertelorism, Splenomegaly, Synophrys, Cryptorchidism, Obesity, Horsesho... OMIM:616368
Juvenile Polyposis Of Infancy
Refractory anemia, Cachexia, Hypertelorism, Freckled genitalia, Anemia ORPHA:79076
Van Der Woude Syndrome
Lip pit, Cleft upper lip, Lower lip pit, Cleft palate, Hypodontia, Abnormal salivary gland morpho... ORPHA:888
Trichohepatoenteric Syndrome 1
Curly hair, Brittle hair, Hypospadias, Small for gestational age, Increased mean platelet volume,... OMIM:222470
Giant Axonal Neuropathy
Woolly hair, Abnormal pituitary gland morphology, Pili canaliculi ORPHA:643
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Hydrocele testis, Micropenis, Brittle hair, Sparse eyebrow OMIM:618810
Pontocerebellar Hypoplasia, Type 6
Deeply set eye, Failure to thrive OMIM:611523
Desbuquois Syndrome
Sparse hair, Proptosis, Abnormal eyelash morphology ORPHA:1425
Body Mass Index Quantitative Trait Locus 20
Obesity, Tall stature OMIM:618406
Eem Syndrome
Sparse scalp hair, Absent eyebrow, Sparse body hair ORPHA:1897
Orthostatic Hypotension 2
Hypoglycemia, Anemia, Decreased glomerular filtration rate OMIM:618182
Ectodermal Dysplasia-Syndactyly Syndrome 2
Sparse hair OMIM:613576
Hydatidiform Mole
Menometrorrhagia, Hyperthyroidism, Enlarged uterus, Anemia ORPHA:99927
Scarf Syndrome
Bifid scrotum, Cryptorchidism, Low anterior hairline, Low posterior hairline, Perineal hypospadia... OMIM:312830
Shukla-Vernon Syndrome
Sparse hair, Hypertelorism OMIM:301029
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism
Highly arched eyebrow, Cryptorchidism, Low anterior hairline, Hirsutism, Woolly hair, Dilated thi... OMIM:619244
Prolactin Deficiency With Obesity And Enlarged Testes
Macroorchidism, Obesity, Reduced circulating prolactin concentration OMIM:264120
Alagille Syndrome
Hypertelorism, Cryptorchidism, Abnormality of the ureter, Deeply set eye, Nephrotic syndrome, Del... ORPHA:52
Cockayne Syndrome Type 1
Renal insufficiency, Proteinuria, Cryptorchidism, Hypohidrosis, Deeply set eye, Male hypogonadism... ORPHA:90321
Mu-Heavy Chain Disease
Abnormal B cell count, Bence Jones Proteinuria, Splenomegaly, Weight loss, Nephropathy, Anemia ORPHA:100024
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Macroorchidism, Decreased serum insulin-like growth factor 1, Elevated circulating growth hormone... ORPHA:85327
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Hypothyroidism, Anisopoikilocytosis, Reticulocytopenia, Hepatosplenomegaly, Decreased mean corpus... ORPHA:300298
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Neutrophilia, Abnormal testis morphology, Anemia, Weight loss ORPHA:54251
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome
Diabetes insipidus, Hypertelorism, Deeply set eye, Severe failure to thrive, HbH hemoglobin ORPHA:423479
8P23.1 Microdeletion Syndrome
Hypospadias, Cryptorchidism, Obesity, Weight loss, Deeply set eye ORPHA:251071
Congenital Disorder Of Glycosylation With Defective Fucosylation 1
Hypoglycemia, Nephrocalcinosis, Neutropenia, Failure to thrive, Hypothyroidism, Hirsutism OMIM:618005
Hypotrichosis-Intellectual Disability, Lopes Type
Sparse hair ORPHA:2266
Neurodevelopmental Disorder With Poor Growth, Large Ears, And Dysmorphic Facies
Deeply set eye, Failure to thrive, Diabetes mellitus, Small for gestational age OMIM:620194
Marshall Syndrome
Thick upper lip vermilion, Micrognathia, Absent frontal sinuses, Thick lower lip vermilion, Pierr... OMIM:154780
Stormorken Syndrome
Howell-Jolly bodies, Asplenia, Hypotelorism, Anemia, Deeply set eye, Hematuria, Hypoplastic splee... OMIM:185070
Hatipoglu Immunodeficiency Syndrome
Anhidrosis, Pancytopenia, Failure to thrive, Hypospadias, Cryptorchidism, Premature graying of ha... OMIM:620331
Chromosome 13Q33-Q34 Deletion Syndrome
Bifid scrotum, Hypospadias, Small for gestational age, Hypertelorism, Cryptorchidism, Penoscrotal... OMIM:619148
Marbach-Schaaf Neurodevelopmental Syndrome
Thin upper lip vermilion, Torticollis, Hemidystonia, Aggressive behavior, Tremor, Submucous cleft... OMIM:619680
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum
Urinary incontinence, Hypertelorism, Sparse eyebrow, Synophrys, Deeply set eye, Retractile testis OMIM:617193
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Impaired gluconeogenesis, Hypoglycemia OMIM:261650
Mitochondrial Complex Iv Deficiency, Nuclear Type 3
Macrocytic anemia, Splenomegaly, Focal T2 hyperintense thalamic lesion, Failure to thrive, Neonat... OMIM:619046
Erythrocytosis, Familial, 2
Increased hemoglobin, Increased red blood cell mass, Increased hematocrit, Failure to thrive, Ele... OMIM:263400
Say-Barber-Miller Syndrome
Abnormality of the hairline, Highly arched eyebrow, Hypertelorism, Sparse eyebrow, Cryptorchidism... ORPHA:3132
Cartilage-Hair Hypoplasia
Impaired lymphocyte transformation with phytohemagglutinin, Macrocytic anemia, Fair hair, Sparse ... OMIM:250250
Pili Torti, Early-Onset
Dry hair, Brittle hair, Coarse hair, Hair shafts flattened at irregular intervals and twisted thr... OMIM:261900
Mosaic Variegated Aneuploidy Syndrome 2
Small for gestational age, Decreased response to growth hormone stimulation test, Hypotelorism, D... OMIM:614114
Noonan Syndrome 14
Curly hair, Hypertelorism, Sparse eyebrow, Cryptorchidism, Low posterior hairline, Hyperhidrosis,... OMIM:619745
Vipoma
Neoplasm of the pancreas, Diabetes mellitus, Follicular thyroid carcinoma, Elevated circulating g... ORPHA:97282
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Absence of Stensen duct, Decreased response to growth hormone stimulation test, Transverse vagina... OMIM:129900
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome
Impulsivity, Micrognathia, Abnormality of hair texture, Aggressive behavior, Synophrys, Hypoplast... ORPHA:73223
Mitochondrial Pyruvate Carrier Deficiency
Organic aciduria, Hypoglycemia OMIM:614741
17Q12 Microduplication Syndrome
Deeply set eye, Synophrys ORPHA:261272
Schwartz-Jampel Syndrome
Decreased testicular size, Abnormal eyebrow morphology, Decreased body weight, Cachexia, Hypertel... ORPHA:800
Nablus Mask-Like Facial Syndrome
Sparse eyelashes, Highly arched eyebrow, Hypertelorism, Absent eyelashes, Sparse eyebrow, Cryptor... OMIM:608156
Myotonia Congenita, Autosomal Recessive
Skeletal muscle hypertrophy, Muscle hypertrophy of the lower extremities OMIM:255700
Symptomatic Form Of Hfe-Related Hemochromatosis
Diabetes mellitus, Hypogonadotropic hypogonadism, Splenomegaly, Amenorrhea, Weight loss, Infertil... ORPHA:465508
Endocrine-Cerebroosteodysplasia
Small scrotum, Hypospadias, Adrenal hypoplasia, Cryptorchidism, Hypotelorism, Sex reversal, Deepl... OMIM:612651
Pitt-Hopkins Syndrome
Hyperconvex nail, Supernumerary nipple, Cryptorchidism, Deeply set eye, Frontal upsweep of hair, ... OMIM:610954
X-Linked Emery-Dreifuss Muscular Dystrophy
Proximal muscle weakness in upper limbs, Scapular winging, Achilles tendon contracture, Type 1 mu... ORPHA:98863
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
Smooth philtrum, Thin upper lip vermilion, Intestinal malrotation, Highly arched eyebrow, Synophr... OMIM:614701
Cockayne Syndrome
Anhidrosis, Dry hair, Diabetes mellitus, Neurogenic bladder, Urinary incontinence, Unilateral ren... ORPHA:191
Hypercalcemia, Infantile, 1
Failure to thrive, Polyuria, Decreased circulating parathyroid hormone level, Nephrolithiasis, Hy... OMIM:143880
Acth Deficiency, Isolated
Decreased circulating cortisol level, Fasting hypoglycemia, Adrenocorticotropic hormone deficienc... OMIM:201400
Progeroid Syndrome, Petty Type
Brittle hair, Abnormal hair morphology, Abnormality of the nail, Long eyelashes in irregular rows... ORPHA:2963
Microsporidiosis
Cachexia, Abnormality of the spleen, Abnormality of the parathyroid gland, Prostatitis, Urethriti... ORPHA:2552
Emery-Dreifuss Muscular Dystrophy
Proximal muscle weakness in upper limbs, Scapular winging, Achilles tendon contracture, Type 1 mu... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Proximal muscle weakness in upper limbs, Scapular winging, Achilles tendon contracture, Type 1 mu... ORPHA:98853
Hereditary Amyloidosis With Primary Renal Involvement
Male infertility, Renal insufficiency, Primary testicular failure, Proteinuria, Nocturia, Hepatos... ORPHA:85450
Mosaic Variegated Aneuploidy Syndrome 3
Deeply set eye, Horseshoe kidney OMIM:617598
Tenorio Syndrome
Hypoglycemia, Enuresis, Hypoinsulinemia, Thick eyebrow, Hypertrichosis OMIM:616260
Hyperphosphatasia With Impaired Intellectual Development Syndrome 6
Deeply set eye OMIM:616809
Tuberculosis
Weight loss ORPHA:3389
Even-Plus Syndrome
Highly arched eyebrow, Synophrys, Vesicoureteral reflux, Renal hypoplasia, Sparse hair OMIM:616854
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Alopecia, Eosinophilia, Glomerulonephritis, Autoimmune thrombocytopenia, Anemia, Coombs-positive ... OMIM:304790
Camurati-Engelmann Disease
Cachexia, Splenomegaly, Leukopenia, Proptosis, Hypogonadism, Urinary retention, Delayed puberty, ... ORPHA:1328
Ectodermal Dysplasia, Sensorineural Hearing Loss, And Distinctive Facial Features
Hypospadias, Trichiasis, Sparse eyebrow, Deeply set eye, Thin eyebrow OMIM:609944
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Testicular atrophy, Decreased fertility OMIM:313200
Developmental Delay With Or Without Dysmorphic Facies And Autism
Small scrotum, Highly arched eyebrow, Hypertelorism, Supernumerary nipple, Cryptorchidism, Renal ... OMIM:618454
Cortisone Reductase Deficiency 2
Obesity OMIM:614662
Leri-Weill Dyschondrosteosis
Hypoplasia of the ulna, Radial bowing, Abnormal femoral neck morphology, Dorsal subluxation of ul... OMIM:127300
Intellectual Developmental Disorder, Autosomal Dominant 7
Deeply set eye, Small for gestational age, Failure to thrive in infancy, Hypotelorism OMIM:614104
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Testicular atrophy, Hypertelorism OMIM:601163
Mucopolysaccharidosis, Type Ix
Submucous cleft hard palate, Bifid uvula OMIM:601492
Combined Oxidative Phosphorylation Deficiency 40
Decreased circulating cortisol level, Hypoglycemia, Anemia OMIM:618835
Macs Syndrome
Alopecia, Hypergonadotropic hypogonadism, Sparse eyebrow, Cryptorchidism, Urethral stenosis, Decr... OMIM:613075
Hallermann-Streiff Syndrome
Natal tooth, Alopecia, Sparse eyelashes, Abnormality of hair texture, Sparse eyebrow, Micrognathi... ORPHA:2108
Somatostatinoma
Neoplasm of the pancreas, Diabetes mellitus, Elevated circulating growth hormone concentration, A... ORPHA:97283
Combined Oxidative Phosphorylation Deficiency 42
Decreased circulating cortisol level, Hypoglycemia, Anemia OMIM:618839
Luo-Schoch-Yamamoto Syndrome
Highly arched eyebrow, Hypertelorism, Deeply set eye, Long eyelashes, Failure to thrive OMIM:619460
Phosphoribosylpyrophosphate Synthetase Superactivity
Renal insufficiency, Hypospadias, Small for gestational age, Cryptorchidism, Urolithiasis, Hypote... OMIM:300661
Corpus Callosum, Agenesis Of, With Facial Anomalies And Cerebellar Ataxia
Low anterior hairline, Hirsutism, Long eyelashes, Sparse hair, Thick eyebrow OMIM:616819
Uncombable Hair Syndrome 1
Uncombable hair, Dry hair, Pili canaliculi OMIM:191480
Braddock-Carey Syndrome 1
Sparse hair, Curly hair, Multicystic kidney dysplasia, Thrombocytopenia OMIM:619980
Combined Oxidative Phosphorylation Deficiency 36
Failure to thrive, Hypoglycemia, Aciduria OMIM:617950
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3
Mandibular prognathia, High, narrow palate, Deep philtrum, Low anterior hairline, Downturned corn... OMIM:619950
Limb-Mammary Syndrome
Alopecia, Absent nipple, Sparse eyebrow, Cleft hard palate, Cleft lip, Cleft palate, Bilateral br... ORPHA:69085
Mosaic Variegated Aneuploidy Syndrome 7 With Inflammation And Tumor Predisposition
Cervix cancer, Deeply set eye, Pilomatrixoma, Multinodular goiter OMIM:620189
Osteopathia Striata-Cranial Sclerosis Syndrome
Delayed eruption of teeth, Micrognathia, High, narrow palate, Submucous cleft hard palate, Cleft ... ORPHA:2780
Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome
Abnormal hair morphology, Supernumerary tooth, Thin vermilion border, Thick vermilion border, Mal... ORPHA:86818
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2
Hydrocele testis, Anemia, Neutropenia, Congenital thrombocytopenia, Thrombocytopenia OMIM:616738
Xfe Progeroid Syndrome
Renal insufficiency, Premature ovarian insufficiency, Proteinuria, Cachexia, Deeply set eye, Fail... OMIM:610965
Ssr4-Cdg
Deeply set eye, Failure to thrive, Horseshoe kidney ORPHA:370927
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities
Cryptorchidism, Deeply set eye, Hypotelorism OMIM:602471
2Q37 Microdeletion Syndrome
Sparse scalp hair, Multicystic kidney dysplasia, Supernumerary nipple, Highly arched eyebrow, Spa... ORPHA:1001
Obesity And Hypopigmentation
Overgrowth, Obesity OMIM:620195
Tbck-Related Intellectual Disability Syndrome
Neurogenic bladder, Hyperthyroidism, Decreased response to growth hormone stimulation test, Crypt... ORPHA:488632
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation
Low anterior hairline, Deeply set eye, Horizontal eyebrow, Vesicoureteral reflux, High anterior h... OMIM:618797
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome
Cachexia ORPHA:1389
Branchiogenic-Deafness Syndrome
Trismus, Submucous cleft hard palate OMIM:609166
Chromosome 5P13 Duplication Syndrome
Hypertelorism, Vesicoureteral reflux, Low posterior hairline, Hypotelorism, Proptosis, Sparse hair OMIM:613174
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome
Severe failure to thrive, Cachexia ORPHA:371364
Dystonia 7, Torsion
Skeletal muscle hypertrophy, Torticollis OMIM:602124
Caudal Duplication
Abnormal penis morphology, Ureteral duplication, Uterus didelphys, Cryptorchidism ORPHA:1756
Orofaciodigital Syndrome Type 10
Cleft soft palate, Accessory oral frenulum, Micrognathia, Long philtrum, Retrognathia ORPHA:2756
X-Linked Dominant Chondrodysplasia Punctata
Sparse eyelashes, Abnormal hair pattern, Hypertelorism, Sparse eyebrow, Scarring alopecia of scal... ORPHA:35173
Ciliary Dyskinesia, Primary, 37
Hypothyroidism, Female infertility, Goiter OMIM:617577
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb
Deeply set eye, Hypertelorism, Hypotelorism OMIM:613604
Beta-Thalassemia
Hypogonadotropic hypogonadism, Abnormal hemoglobin, Microcytic anemia, Splenomegaly, Anemia, Chol... ORPHA:848
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Esophageal atresia, Submucous cleft hard palate, Hypertrichosis, Tracheoesophageal fistula, Low p... OMIM:619227
Mitochondrial Complex Iii Deficiency, Nuclear Type 9
Hypoglycemia OMIM:616111
Prader-Willi Syndrome Due To Translocation
Hypopigmentation of hair, Hypogonadotropic hypogonadism, Decreased response to growth hormone sti... ORPHA:177907
Anauxetic Dysplasia 2
Sparse hair, Nail dysplasia, Small nail OMIM:617396
Immunodeficiency 21
Aplastic anemia, B lymphocytopenia, Cervical intraepithelial neoplasia, Neutropenia, Monocytopeni... OMIM:614172
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Hypoglycemia, Stage 5 chronic kidney disease, Methylmalonic aciduria, Leukopenia, Tubulointerstit... OMIM:251000
Idiopathic Bronchiectasis
Cachexia ORPHA:60033
Dopamine Beta-Hydroxylase Deficiency
Hypoglycemia, Insulin resistance, Elevated urinary dopamine level, Hyperinsulinemia, Anemia, Retr... ORPHA:230
Cree Mental Retardation Syndrome
Cleft soft palate, Micrognathia OMIM:606851
Cerebellofaciodental Syndrome
Aggressive behavior, Sparse eyebrow, Dental malocclusion, Fine hair, Taurodontia, Macrodontia of ... OMIM:616202
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form
Failure to thrive, Hypogonadism, Abnormality of hair texture, Megaloblastic anemia ORPHA:79351
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties
Sparse eyebrow, Deeply set eye, Sparse eyelashes, Urinary incontinence OMIM:620070
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Elevated urinary 3-hydroxybutyric acid, Hypertelorism, Methylmalonic aciduria, Elevated urinary a... OMIM:614105
Koolen-De Vries Syndrome
Ureteral duplication, Hypopigmentation of hair, Hypospadias, Abnormality of hair texture, Cryptor... ORPHA:96169
Onychotrichodysplasia And Neutropenia
Curly hair, Chronic neutropenia, Curly eyelashes, Concave nail, Sparse pubic hair, Lymphocytosis,... OMIM:258360
Chromosome 10Q22.3-Q23.2 Deletion Syndrome
Deeply set eye, Breast aplasia, Hypertelorism OMIM:612242
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Hypospadias, Renal hypoplasia, Renal cyst, Fine hair, Nail dysplasia, Polycystic kidney dysplasia... OMIM:614091
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Proteinuria, Chronic neutropenia, Hypoglycemia, Irregular menstruation, Thyroiditis, Stage 5 chro... ORPHA:79259
Deafness With Labyrinthine Aplasia, Microtia, And Microdontia
Conical tooth, Micrognathia, Supernumerary tooth, Synophrys, Widely spaced teeth, Hypodontia, Mic... ORPHA:90024
Frontonasal Dysplasia 2
Sparse eyelashes, Alopecia totalis, Hypertelorism, Sparse eyebrow, Bilateral cryptorchidism, Fine... OMIM:613451
Glucocorticoid Deficiency 2
Decreased circulating cortisol level, Increased circulating ACTH level, Recurrent hypoglycemia OMIM:607398
Amaurosis-Hypertrichosis Syndrome
Abnormal eyelash morphology, Synophrys, Coarse hair, Thick eyebrow ORPHA:1021
Robin Sequence With Distinctive Facial Appearance And Brachydactyly
Exaggerated median tongue furrow, Tented upper lip vermilion, Exaggerated cupid's bow, Micrognath... OMIM:608670
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Increased level of hippuric acid in urine, Hypoglycemia, Glutaric aciduria, Anemia, 3-Methylgluta... OMIM:246450
Isolated Congenital Hypoglossia/Aglossia
Weight loss ORPHA:141152
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Decreased thyroid-stimulating hormone level, Increased circulating free T4 concentration, Hyperth... OMIM:613239
Glycerol Kinase Deficiency
Adrenocortical hypoplasia, Increased urinary glycerol, Small for gestational age, Hypoglycemia, H... OMIM:307030
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Reduced red cell pyruvate kinase ... ORPHA:766
Intellectual Developmental Disorder, Autosomal Dominant 29
Hypertelorism, Cryptorchidism, Synophrys, Obesity, Deeply set eye, Hirsutism OMIM:616078
Microcephaly 30, Primary, Autosomal Recessive
Thin upper lip vermilion, Pierre-Robin sequence, Cleft soft palate OMIM:620183
Histidinuria-Renal Tubular Defect Syndrome
Hypoplastic toenails, Histidinuria, Impaired histidine renal tubular absorption, Hypoglycemia ORPHA:2158
Cousin Syndrome
Hypertelorism, Ambiguous genitalia, female, Low anterior hairline, Deeply set eye, Ambiguous geni... OMIM:260660
Renal Nutcracker Syndrome
Dyspareunia, Proteinuria, Dysmenorrhea, Vulval varicose vein, Weight loss, Hematuria, Renal arter... ORPHA:71273
Bardet-Biedl Syndrome 8
Obesity, Postaxial polydactyly OMIM:615985
Nijmegen Breakage Syndrome
Abnormal hair quantity, Hemolytic anemia, Autoimmune hemolytic anemia, Cachexia, Abnormal hair mo... ORPHA:647
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies
Supernumerary nipple, Hypertelorism, Sparse eyebrow, Synophrys, Deeply set eye, High anterior hai... OMIM:620098
Diarrhea 13
Recurrent hypoglycemia, Failure to thrive OMIM:620357
Neuropathy, Congenital Hypomyelinating, 3
Cachexia OMIM:618186
Dyrk1A-Related Intellectual Disability Syndrome
Failure to thrive, Hypospadias, Anterior pituitary hypoplasia, Unilateral renal agenesis, Small f... ORPHA:464306
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language
Deeply set eye, Hypertelorism OMIM:613443
Mccune-Albright Syndrome
Hyperparathyroidism, Hyperthyroidism, Elevated circulating growth hormone concentration, Precocio... OMIM:174800
Oculodentodigital Dysplasia
Curly hair, Neurogenic bladder, Brittle hair, Abnormal fingernail morphology, Slow-growing hair, ... ORPHA:2710
Cockayne Syndrome A
Anhidrosis, Dry hair, Renal insufficiency, Proteinuria, Splenomegaly, Cryptorchidism, Irregular m... OMIM:216400
7Q11.23 Microduplication Syndrome
Hypospadias, Unilateral renal agenesis, Hypertelorism, Sparse anterior scalp hair, Cryptorchidism... ORPHA:96121
Hypotonia, Ataxia, Developmental Delay, And Tooth Enamel Defect Syndrome
Deeply set eye OMIM:617915
Glucagonoma
Neoplasm of the pancreas, Diabetes mellitus, Elevated circulating growth hormone concentration, A... ORPHA:97280
Hsd10 Mitochondrial Disease
Hypoglycemia, Abnormal mitochondrial morphology OMIM:300438
Dyskeratosis Congenita, Autosomal Dominant 1
Ridged nail, Alopecia, Aplastic anemia, Nail pits, Anemia, Leukopenia, Premature graying of hair,... OMIM:127550
Leopard Syndrome 1
Hypospadias, Unilateral renal agenesis, Hypertelorism, Cryptorchidism, Micropenis, Hypoplasia of ... OMIM:151100
Ankylosing Vertebral Hyperostosis With Tylosis
Obesity ORPHA:2206
Pelviscapular Dysplasia
Deeply set eye, Low posterior hairline, Hypertelorism ORPHA:93333
Biemond Syndrome Type 2
Preaxial polydactyly, Obesity ORPHA:141333
Odontotrichoungual-Digital-Palmar Syndrome
Nail dystrophy, Nail dysplasia, Abnormality of hair texture OMIM:601957
Autosomal Recessive Robinow Syndrome
Death in infancy, Alopecia, Tented upper lip vermilion, Exaggerated cupid's bow, Micrognathia, Op... ORPHA:1507
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7
Hypospadias, Decreased response to growth hormone stimulation test, Small for gestational age, Pr... ORPHA:96182
Arthrogryposis, Distal, Type 2A
Deeply set eye, Failure to thrive, Small for gestational age, Cryptorchidism OMIM:193700
Arthrogryposis, Distal, Type 3
Micrognathia, Submucous cleft hard palate, Cleft palate, High palate, Bifid uvula OMIM:114300
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Hypoglycemia, Lacticaciduria, Methylmalonic aciduria, Hyperhidrosis, Failure to thrive OMIM:245400
Cockayne Syndrome B
Anhidrosis, Dry hair, Renal insufficiency, Proteinuria, Small for gestational age, Abnormal hair ... OMIM:133540
Faundes-Banka Syndrome
Sparse scalp hair, Premature thelarche, Hypertelorism, Hypoplastic toenails, Cryptorchidism, Deep... OMIM:619376
Rothmund-Thomson Syndrome Type 1
Premature ovarian insufficiency, Aplastic anemia, Alopecia totalis, Small for gestational age, Cr... ORPHA:221008
Lysosomal Acid Lipase Deficiency
Adrenal calcification, Bone-marrow foam cells, Renal salt wasting, Hypersplenism, Cachexia, Vacuo... ORPHA:275761
Proteus Syndrome
Thymus hyperplasia, Testicular neoplasm, Hypertelorism, Neoplasm of the thymus, Splenomegaly, Enl... ORPHA:744
Peeling Skin Syndrome 1
Nail dystrophy, Brittle hair, Onycholysis, Eosinophilia OMIM:270300
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Failure to thrive, Hypospadias, Small for gestational age, Unilateral renal agenesis, Cryptorchid... ORPHA:464311
Deafness-Craniofacial Syndrome
Deeply set eye, Temporal hypotrichosis ORPHA:3241
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion
Deeply set eye, Synophrys ORPHA:284169
Sotos Syndrome
Hypertelorism, Sparse eyebrow, Cryptorchidism, Increased body weight, Glucose intolerance, Small ... OMIM:117550
Omenn Syndrome
Alopecia, Failure to thrive, Eosinophilia, Splenomegaly, Leukocytosis, Thyroiditis, Aplasia/Hypop... ORPHA:39041
Costello Syndrome
Deep-set nails, Abnormal fingernail morphology, Failure to thrive in infancy, Concave nail, Hypop... ORPHA:3071
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii
Precocious puberty, Fine hair, Anemia, Truncal obesity, Abnormality of female external genitalia,... ORPHA:2637
Leigh Syndrome
Alopecia, Hypoglycemia, Lacticaciduria, Methylmalonic aciduria, Generalized aminoaciduria, Renal ... ORPHA:506
Dicarboxylic Aminoaciduria
Aminoaciduria, Aspartic aciduria, Nephrolithiasis, Fasting hypoglycemia OMIM:222730
Buratti-Harel Syndrome
Velopharyngeal insufficiency, Submucous cleft hard palate, High palate, Sparse medial eyebrow, Bi... OMIM:619314
Idiopathic Achalasia
Weight loss ORPHA:930
Autosomal Dominant Hyper-Ige Syndrome
Eosinophilia, Abnormal hair morphology, Paronychia, Deeply set eye, Dystrophic fingernails ORPHA:2314
Hypotrichosis 14
Sparse pubic hair, Short eyelashes, Absent axillary hair, Sparse hair, Sparse body hair OMIM:618275
Arthrogryposis-Oculomotor Limitation-Electroretinal Anomalies Syndrome
Deeply set eye ORPHA:1154
Neurodevelopmental Disorder With Spasticity, Seizures, And Brain Abnormalities
Sparse hair, Hypertelorism OMIM:620001
Mucopolysaccharidosis, Type Iiid
Thick eyebrow, Hypertelorism, Heparan sulfate excretion in urine, Splenomegaly, Synophrys, Deeply... OMIM:252940
Obesity Due To Melanocortin 4 Receptor Deficiency
Childhood-onset truncal obesity, Obesity ORPHA:71529
Dihydrolipoamide Dehydrogenase Deficiency
Hypoglycemia OMIM:246900
Trisomy 9P
Hypertelorism, Hypoplastic toenails, Deeply set eye, Fingernail dysplasia, Hypoplastic fingernail ORPHA:236
Dubowitz Syndrome
Hypoparathyroidism, Sparse scalp hair, Abnormal fingernail morphology, Hypospadias, Abnormality o... ORPHA:235
Houge-Janssens Syndrome 1
Deeply set eye, Hypoglycemia, Hypertelorism OMIM:616355
De Barsy Syndrome
Hypertelorism, Cryptorchidism, Deeply set eye, Sparse hair, Failure to thrive ORPHA:2962
Laryngotracheoesophageal Cleft Type 4
Abnormality of the spleen, Cachexia ORPHA:93941
Ogden Syndrome
Cryptorchidism, Proptosis, Aplasia/Hypoplasia of the eyebrow, Fine hair ORPHA:276432
Carney Complex
Increased body weight, Papillary thyroid carcinoma, Thyroid carcinoma, Leydig cell neoplasia, Ova... ORPHA:1359
Pancreatic And Cerebellar Agenesis
Failure to thrive, Diabetes mellitus, Hypoglycemia, Hyperglycemia, Pancreatic hypoplasia, Anemia,... OMIM:609069
Trichothiodystrophy 6, Nonphotosensitive
Tiger tail banding, Brittle hair, Slow-growing hair OMIM:616943
Trisomy 20P
Hypospadias, Thick hair, Highly arched eyebrow, Hypertelorism, Cryptorchidism, Low anterior hairl... ORPHA:261318
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 3
Deeply set eye, Highly arched eyebrow OMIM:616900
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Hyperphosphaturia, Diabetes mellitus, Proteinuria, Hypoglycemia, Large for gestational age, Nephr... OMIM:616026
Netherton Syndrome
Sparse scalp hair, Sparse eyelashes, Ectopic kidney, Sparse eyebrow, Abnormal hair morphology, Fi... ORPHA:634
Cleidocranial Dysplasia 1
Delayed eruption of primary teeth, Micrognathia, Absent frontal sinuses, High, narrow palate, Sup... OMIM:119600
Amyotrophy, Hereditary Neuralgic
Deeply set eye, Hypotelorism OMIM:162100
Cerebellar Atrophy, Visual Impairment, And Psychomotor Retardation
Deeply set eye, Low anterior hairline, Hypertelorism OMIM:616875
13Q12.3 Microdeletion Syndrome
Congenital diaphragmatic hernia, Obesity, Camptodactyly, Failure to thrive, Hemihypotrophy of low... ORPHA:412035
Bardet-Biedl Syndrome 2
Postaxial foot polydactyly, Postaxial hand polydactyly, Obesity OMIM:615981
Polycythemia Vera
Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato... OMIM:263300
Cerebrocostomandibular Syndrome
Anal stenosis, Cleft soft palate, Micrognathia, Carious teeth, Cleft lip, Pierre-Robin sequence, ... OMIM:117650
Treacher Collins Syndrome 1
Sparse lower eyelashes, Cleft soft palate, Micrognathia, Cleft palate, Wide mouth, Abnormal parot... OMIM:154500
Ectodermal Dysplasia And Immunodeficiency 1
Sparse hair, Conical incisor, Aplasia of the eccrine sweat glands OMIM:300291
Leopard Syndrome 2
Curly hair, Hypertelorism OMIM:611554
Ichthyosis, Congenital, Autosomal Recessive 1
Sparse hair, Alopecia, Nail dystrophy, Nail dysplasia OMIM:242300
Mucopolysaccharidosis, Type Iiib
Heparan sulfate excretion in urine, Splenomegaly, Synophrys, Coarse hair, Hirsutism OMIM:252920
Alg12-Cdg
Decreased serum insulin-like growth factor 1, Hypospadias, Cryptorchidism, Low posterior hairline... ORPHA:79324
Cardiofaciocutaneous Syndrome
Brittle hair, Slow-growing hair, Failure to thrive in infancy, Hypertelorism, Abnormal eyelash mo... ORPHA:1340
17Q24.2 Microdeletion Syndrome
Failure to thrive in infancy, Decreased response to growth hormone stimulation test, Hyperteloris... ORPHA:529962
Bryant-Li-Bhoj Neurodevelopmental Syndrome 1
Hypertelorism, Sparse eyebrow, Low anterior hairline, Low posterior hairline, Deeply set eye OMIM:619720
Riboflavin Deficiency
Dicarboxylic aciduria, Hypoglycemia OMIM:615026
3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome
Failure to thrive, 3-Methylglutaconic aciduria, Hypoglycemia OMIM:614739
Celiac Disease, Susceptibility To, 1
Alopecia, Macrocytic anemia, Thyroiditis, Weight loss, Iron deficiency anemia, Infertility, Delay... OMIM:212750
Pyridoxine-Dependent Epilepsy
Hypoglycemia ORPHA:3006
Pyruvate Dehydrogenase E3 Deficiency
Increased urine alpha-ketoglutarate concentration, Failure to thrive, Hypoglycemia ORPHA:2394
Rothmund-Thomson Syndrome
Delayed eruption of teeth, Sparse eyelashes, Abnormal dental enamel morphology, Alopecia totalis,... ORPHA:2909
Acrofacial Dysostosis, Catania Type
Cryptorchidism, Coarse hair, Hypospadias, Abnormal hair pattern ORPHA:1786
Igg4-Related Retroperitoneal Fibrosis
Normocytic anemia, Renal insufficiency, Dysuria, Varicocele, Renovascular hypertension, Renal tub... ORPHA:49041
Chime Syndrome
Abnormal dental morphology, Abnormality of the dentition, Supernumerary tooth, Cleft palate, Fine... ORPHA:3474
Mosaic Trisomy 8
Decreased testicular size, Hypertelorism, Cryptorchidism, Deeply set eye, Vesicoureteral reflux, ... ORPHA:96061
Neurodevelopmental Disorder With Speech Impairment And Dysmorphic Facies
Deeply set eye, Obesity, Hypertelorism OMIM:619056
Mucopolysaccharidosis-Plus Syndrome
Proteinuria, Splenomegaly, Synophrys, Low anterior hairline, Hirsutism, Low posterior hairline, A... OMIM:617303
Mitochondrial Complex Iii Deficiency, Nuclear Type 5
Small for gestational age, Hypoglycemia OMIM:615160
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Overgrowth, Small for gestational age, Diastasis recti, Large for gestational age ORPHA:254534
Microphthalmia, Syndromic 1
Aganglionic megacolon, Dental crowding, Cleft upper lip, Aggressive behavior, High, narrow palate... OMIM:309800
Renal Hypoplasia, Bilateral
Failure to thrive, Proteinuria, Small for gestational age, Cryptorchidism, Chronic kidney disease... ORPHA:97362
Harel-Yoon Syndrome
Deeply set eye OMIM:617183
Acute Monoblastic/Monocytic Leukemia
Acute monocytic leukemia, Leukocytosis, Oliguria, Central hypothyroidism, Weight loss, Lymphocyto... ORPHA:514
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type
Retrognathia, Short philtrum, Cleft soft palate, Smooth philtrum ORPHA:293725
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development
Laterally extended eyebrow, Highly arched eyebrow, Sparse eyebrow, Deeply set eye, High anterior ... OMIM:600987
Galactose Epimerase Deficiency
Splenomegaly, Aminoaciduria, Weight loss ORPHA:79238
Malan Overgrowth Syndrome
Deeply set eye, Low posterior hairline ORPHA:420179
Dyskeratosis Congenita, Digenic
Alopecia, Sparse eyelashes, Nail dystrophy, Failure to thrive, Decreased testicular size, Anemia OMIM:620040
Oculocerebrorenal Syndrome Of Lowe
Hyperparathyroidism, Oligosacchariduria, Nephrocalcinosis, Deeply set eye, Aminoaciduria, Cryptor... ORPHA:534
Isobutyryl-Coa Dehydrogenase Deficiency
Dicarboxylic aciduria, Ketotic hypoglycemia ORPHA:79159
Mitochondrial Complex I Deficiency, Nuclear Type 19
Hypoglycemia OMIM:618241
Propionic Acidemia
Organic aciduria, Hypoglycemia ORPHA:35
Mucopolysaccharidosis, Type Iiic
Heparan sulfate excretion in urine, Splenomegaly, Synophrys, Coarse hair, Hirsutism, Hypertrichosis OMIM:252930
Combined Oxidative Phosphorylation Deficiency 10
Failure to thrive, Small for gestational age, Hypoglycemia OMIM:614702
Ctcf-Related Neurodevelopmental Disorder
Small for gestational age, Highly arched eyebrow, Hypertelorism, Phimosis, Cryptorchidism, Synoph... ORPHA:363611
Ectodermal Dysplasia 11B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive
Absent eyebrow, Sparse scalp hair, Absent nipple, Sparse eyelashes, Anhidrosis, Absent eyelashes,... OMIM:614941
Fanconi-Bickel Syndrome
Hyperphosphaturia, Diabetes mellitus, Impaired glucose tolerance, Hypercalciuria, Generalized ami... ORPHA:2088
Intellectual Developmental Disorder, X-Linked 30
Deeply set eye OMIM:300558
Mandibuloacral Dysplasia
Alopecia, Insulin-resistant diabetes mellitus, Insulin resistance, Hyperinsulinemia, Glucose into... ORPHA:2457
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis
Delayed eruption of teeth, Thin upper lip vermilion, Dental crowding, Micrognathia, Cleft hard pa... OMIM:300990
Distal Duplication 6P
Abnormal hair quantity, Abnormal eyelash morphology, Renal hypoplasia, Fine hair, Hydronephrosis ORPHA:1745
Ornithine Transcarbamylase Deficiency
Splenomegaly, Aminoaciduria, Hypoglycemia ORPHA:664
Lipodystrophy, Familial Partial, Type 2
Acute pancreatitis, Labial pseudohypertrophy, Insulin-resistant diabetes mellitus, Hyperinsulinem... OMIM:151660
Galloway-Mowat Syndrome 9
Diffuse mesangial sclerosis, Hypertelorism, Stage 5 chronic kidney disease, Hypotelorism, Focal s... OMIM:619603
Menkes Disease
Sparse hair, Alopecia, Brittle hair OMIM:309400
Acrofacial Dysostosis Syndrome Of Rodriguez
Deep-set nails, Deeply set eye, Hypertelorism OMIM:201170
Mucopolysaccharidosis, Type Iiia
Heparan sulfate excretion in urine, Splenomegaly, Synophrys, Coarse hair, Hirsutism OMIM:252900
Chondrodysplasia-Difference Of Sex Development Syndrome
Deeply set eye, Male pseudohermaphroditism ORPHA:1422
Alg9-Cdg
Ureteral hypoplasia, Hypertelorism, Low posterior hairline, Proptosis, Hypoplasia of the ovary, H... ORPHA:79328
Phip-Related Behavioral Problems-Intellectual Disability-Obesity-Dysmorphic Features Syndrome
Clinodactyly of the 5th finger, 2-3 toe syndactyly, Increased body weight, Tapered finger ORPHA:589905
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Accessory spleen, Failure to thrive in infancy, Hypoglycemia, Neonatal hypoglycemia, Splenomegaly... OMIM:619418
Hall-Riggs Syndrome
Coarse hair, Slow-growing hair, Thick hair, Hypertelorism ORPHA:2107
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Sideroblastic anemia, Brittle hair, Splenomegaly, Schistocytosis, Hypochromic microcytic anemia, ... OMIM:616084
Intellectual Developmental Disorder, Autosomal Dominant 58
Dental crowding, Protruding tongue, Submucous cleft hard palate, Wide mouth, Thick vermilion bord... OMIM:618106
Vulto-Van Silfhout-De Vries Syndrome
Widow's peak, Horizontal eyebrow, Fine hair OMIM:615828
Sting-Associated Vasculopathy, Infantile-Onset
Nailfold capillary tortuosity, Leukopenia, Nail dystrophy, Periungual erythema, Sparse hair, Thro... OMIM:615934
Hypoadrenocorticism, Familial
Adrenal insufficiency, Adrenal hypoplasia, Hypoglycemia OMIM:240200
Monosomy 22
Aplasia of the thymus, Synophrys, Hypochromic microcytic anemia, Hepatosplenomegaly, Hyperhidrosi... ORPHA:96123
Bardet-Biedl Syndrome 9
Syndactyly, Postaxial polydactyly, Postaxial hand polydactyly, Obesity, Postaxial foot polydactyl... OMIM:615986
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia
Juvenile myelomonocytic leukemia, Highly arched eyebrow, Hypertelorism, Splenomegaly, Cryptorchid... OMIM:613563
Stickler Syndrome, Type I
Micrognathia, Submucous cleft hard palate, Pierre-Robin sequence, Cleft palate, Malar flattening,... OMIM:108300
Spondylometaphyseal Dysplasia, Schmidt Type
Cleft soft palate, Micrognathia ORPHA:93316
Craniofrontonasal Syndrome
Ridged nail, Curly hair, Split nail, Hypospadias, Hypertelorism, Cryptorchidism, Widow's peak, Lo... OMIM:304110
Carney Complex, Type 1
Elevated circulating growth hormone concentration, Pituitary adenoma, Pheochromocytoma, Thyroid c... OMIM:160980
Loeys-Dietz Syndrome 5
Tented upper lip vermilion, Cleft soft palate, Eosinophilic infiltration of the esophagus, Hiatus... OMIM:615582
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia
Hypoglycemia, Decreased response to growth hormone stimulation test, Central adrenal insufficienc... OMIM:616007
Distal Xq28 Microduplication Syndrome
Deeply set eye, Hypothyroidism, Aplasia/Hypoplasia of the eyebrow ORPHA:293939
Glycogen Storage Disease Ixc
Splenomegaly, Bile duct proliferation, Fasting hypoglycemia, Hypoglycemia OMIM:613027
Alazami Syndrome
Sparse eyebrow, Deeply set eye ORPHA:319671
Zellweger-Like Syndrome Without Peroxisomal Anomalies
Alopecia, Brittle hair ORPHA:50812
Bardet-Biedl Syndrome 3
Obesity, Postaxial polydactyly, Brachydactyly OMIM:600151
Pelizaeus-Merzbacher Disease
Failure to thrive in infancy, Cachexia ORPHA:702
Rubinstein-Taybi Syndrome 1
Premature thelarche, Bilateral cryptorchidism, Low anterior hairline, Papillary cystadenoma of th... OMIM:180849
Thymoma
Aplastic anemia, Glomerulonephritis, Pure red cell aplasia, Imbalanced hemoglobin synthesis, Weig... ORPHA:99867
Lelis Syndrome
Yellow nails, Absent lower eyelashes, Nail dystrophy, Sparse hair, Abnormal toenail morphology, S... ORPHA:140936
Carpenter Syndrome
Syndactyly, Finger syndactyly, Toe syndactyly, Postaxial hand polydactyly, Obesity, Genu valgum, ... ORPHA:65759
Trichothiodystrophy
Ridged nail, Sparse scalp hair, Split nail, Brittle hair, Hypertelorism, Concave nail, Cryptorchi... ORPHA:33364
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Hypospadias, Decreased response to growth hormone stimulation test, Premature thelarche, Unilater... ORPHA:268261
Ectodermal Dysplasia 11A, Hypohidrotic/Hair/Tooth Type, Autosomal Dominant
Anhidrosis, Brittle hair, Absent nipple, Hypohidrosis, Sparse hair, Absent hair OMIM:614940
Neurodevelopmental Disorder With Absent Language And Variable Seizures
Deeply set eye, Proptosis OMIM:618707
Ellis Van Creveld Syndrome
Abnormal hair quantity, Delayed eruption of teeth, Abnormal oral mucosa morphology, Abnormality o... ORPHA:289
Diamond-Blackfan Anemia 21
Hypertelorism, Erythroid hypoplasia, Synophrys, Widow's peak, Anemia, Coarse hair, Horizontal eye... OMIM:620072
Imerslund-Gräsbeck Syndrome
Reticulocytosis, Macrocytic anemia, Pancytopenia, Proteinuria, Megaloblastic anemia, Anisopoikilo... ORPHA:35858
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
Unilateral renal agenesis, Hypertelorism, Abnormal T cell subset distribution, Low posterior hair... ORPHA:221139
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Pancytopenia, Cachexia, Abnormality of the spleen, Splenomegaly, Hepatosplenomegaly, Anemia, Azoo... ORPHA:2072
Olmsted Syndrome 2
Sparse hair, Woolly hair, Alopecia universalis OMIM:619208
Bardet-Biedl Syndrome 1
Decreased testicular size, Diabetes mellitus, Nephrogenic diabetes insipidus, Insulin resistance,... OMIM:209900
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1
Curly hair, Sparse scalp hair, Hypertelorism, Large for gestational age, Cryptorchidism, Loose an... OMIM:607721
Frank-Ter Haar Syndrome
Deeply set eye, Hypertelorism ORPHA:137834
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency
Alopecia, Ketonuria, Hypoglycemia, Hyperglycinuria, Organic aciduria, Failure to thrive OMIM:210210
Norrie Disease
Diabetes mellitus, Cachexia, Cryptorchidism, Hypotelorism, Deeply set eye, Erectile dysfunction, ... ORPHA:649
Hennekam Syndrome
Delayed eruption of teeth, Abnormal dental morphology, Abnormal oral mucosa morphology, Sparse ax... ORPHA:2136
2-Methylbutyryl-Coa Dehydrogenase Deficiency
Hypoglycemia, 2-ethylhydracylic aciduria OMIM:610006
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
Hypoglycemia, Hypertelorism, Precocious puberty, Synophrys, Obesity, Hepatosplenomegaly, Cholelit... OMIM:301066
Rajab Interstitial Lung Disease With Brain Calcifications 1
Pancytopenia, Small scrotum, Small for gestational age, Hypoglycemia, Hypotelorism, Deeply set ey... OMIM:613658
Erythrokeratodermia Variabilis Et Progressiva 7
Woolly hair, Dystrophic toenail OMIM:619209
Developmental And Epileptic Encephalopathy 84
Deeply set eye, Synophrys OMIM:618792
Ppoma
Neoplasm of the pancreas, Elevated circulating growth hormone concentration, Abnormality of the t... ORPHA:97278
Fanconi Anemia, Complementation Group F
Failure to thrive, Decreased response to growth hormone stimulation test, Cryptorchidism, Renal h... OMIM:603467
Wiedemann-Rautenstrauch Syndrome
Sparse scalp hair, Absent eyebrow, Alopecia, Sparse eyelashes, Hypospadias, Failure to thrive, Hy... OMIM:264090
Mitochondrial Complex Iv Deficiency, Nuclear Type 15
Deeply set eye OMIM:619059
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12
Woolly hair OMIM:611528
Autosomal Dominant Robinow Syndrome
Alopecia, Curly eyelashes, Micrognathia, Open bite, High, narrow palate, Supernumerary tooth, Abn... ORPHA:3107
Incontinentia Pigmenti
Ridged nail, Alopecia, Eosinophilia, Supernumerary nipple, Leukocytosis, Nail pits, Fine hair, Co... OMIM:308300
Familial Adenomatous Polyposis 1
Duodenal polyposis, Carious teeth, Supernumerary tooth, Adenomatous colonic polyposis, Multiple g... OMIM:175100
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Hypospadias, Hypertelorism, Cryptorchidism, Widow's peak, Renal cyst, Hypotelorism, Deeply set ey... OMIM:616975
Rodrigues Blindness
Sparse hair, Fine hair OMIM:268320
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Anisocytosis, Splenomegaly, Hepatosplenomegaly, Decreased mean corpuscular volume, Type II diabet... OMIM:616860
Hepatic Veno-Occlusive Disease
Increased body weight ORPHA:890
Cleidocranial Dysplasia 2
Hypoplasia of the maxilla, Supernumerary tooth, Delayed eruption of primary teeth OMIM:620099
1P36 Deletion Syndrome
Abnormal eyebrow morphology, Hypoplasia of penis, Hypospadias, Abnormality of the spleen, Cryptor... ORPHA:1606
Cerebellar-Facial-Dental Syndrome
Micrognathia, Sparse eyebrow, Dental malocclusion, Alveolar ridge overgrowth, Fine hair, Taurodon... ORPHA:444072
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities
Hypertelorism, Synophrys, Obesity, Deeply set eye, Thick eyebrow OMIM:618443
Mitochondrial Complex Iii Deficiency, Nuclear Type 11
Hypoglycemia, Pancreatitis OMIM:620137
Arthrogryposis, Distal, Type 5
Deeply set eye OMIM:108145
Koolen-De Vries Syndrome
Failure to thrive, Small for gestational age, Abnormality of hair texture, Cryptorchidism, Hypote... OMIM:610443
X-Linked Agammaglobulinemia
Alopecia, Weight loss, Anemia, Neutropenia, Failure to thrive, Thrombocytopenia ORPHA:47
Coffin-Siris Syndrome 12
Sparse scalp hair, Hypospadias, Highly arched eyebrow, Hypertelorism, Cryptorchidism, Synophrys, ... OMIM:619325
Xeroderma Pigmentosum, Complementation Group F
Deeply set eye, Decreased body weight OMIM:278760
Isolated Epispadias
Urinary incontinence, Epispadias, Anteriorly displaced urethral meatus, Vesicoureteral reflux, Bi... ORPHA:93928
Intellectual Developmental Disorder, Autosomal Dominant 65
Sparse hair, Synophrys, Thin eyebrow, Low posterior hairline OMIM:619320
46,Xx Sex Reversal 2
Bifid scrotum, Hypoplasia of the vagina, Small scrotum, True hermaphroditism, Ovotestis, Perineal... OMIM:278850
X-Linked Intellectual Disability, Stevenson Type
Tapered finger, Obesity, Genu valgum, Large hands, Tall stature ORPHA:85325
Joubert Syndrome 14
Deeply set eye, Renal cyst, Highly arched eyebrow, Hypertelorism OMIM:614424
Branchioskeletogenital Syndrome
Mandibular prognathia, Absent nipple, Highly arched eyebrow, Abnormality of the dentition, Hypopl... ORPHA:1299
Paganini-Miozzo Syndrome
Deeply set eye, Urinary incontinence OMIM:301025
Pitt-Hopkins Syndrome
Supernumerary nipple, Cryptorchidism, Deeply set eye, Micropenis, Failure to thrive ORPHA:2896
Chromosome 6Q24-Q25 Deletion Syndrome
Medial flaring of the eyebrow, Thin upper lip vermilion, Sparse eyelashes, High, narrow palate, S... OMIM:612863
Leopard Syndrome 3
Curly hair, Low posterior hairline, Hypertelorism OMIM:613707
Pseudohypoparathyroidism, Type Ib
Short metacarpal, Obesity, Brachydactyly OMIM:603233
Juvenile Amyotrophic Lateral Sclerosis
Urinary incontinence, Cachexia ORPHA:300605
Hypotonia, Ataxia, And Delayed Development Syndrome
Hypertelorism, Cryptorchidism, Synophrys, Deeply set eye, Horizontal eyebrow, Vesicoureteral refl... OMIM:617330
Atypical Werner Syndrome
Abnormal hair whorl, Fasting hyperinsulinemia, Premature graying of hair, Hyperglycemia, Alopecia... ORPHA:79474
Syndromic Diarrhea
Hypopigmentation of hair, Brittle hair, Small for gestational age, Increased mean platelet volume... ORPHA:84064
Acrogeria
Fine hair ORPHA:2500
Encephalopathy Due To Defective Mitochondrial And Peroxisomal Fission 1
Deeply set eye, Failure to thrive OMIM:614388
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Mitochondrial hypertrophy, Premature ovarian insufficiency, Female infertility OMIM:619518
Grfoma
Neoplasm of the pancreas, Elevated circulating growth hormone concentration, Neoplasm of the thym... ORPHA:97261
Huntington Disease-Like 2
Weight loss ORPHA:98934
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5
3-Methylglutaconic aciduria, Hypoglycemia OMIM:618120
Aicardi-Goutieres Syndrome 9
Hemolytic anemia, Renal insufficiency, Acute pancreatitis, Proteinuria, Stage 5 chronic kidney di... OMIM:619487
Neu-Laxova Syndrome
Abnormality of the philtrum, Micrognathia, Abnormal eyelash morphology, Trismus, Abnormal hair mo... ORPHA:2671
1Q21.1 Microdeletion Syndrome
Cryptorchidism, Deeply set eye, Vesicoureteral reflux, Failure to thrive, Hydronephrosis ORPHA:250989
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Ketonuria, Hypoglycemia, Premature thelarche, Myoglobinuria, Hypothyroidism, Premature pubarche OMIM:616878
Thrombocytopenia 6
Deeply set eye, Thrombocytopenia, Hypotelorism OMIM:616937
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities
Highly arched eyebrow, Low anterior hairline, Low posterior hairline, Deeply set eye, Failure to ... OMIM:615802
Leber Congenital Amaurosis 8
Deeply set eye OMIM:613835
Schinzel-Giedion Syndrome
Streak ovary, Hypospadias, Failure to thrive in infancy, Hypertelorism, Abnormality of the ureter... ORPHA:798
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Dicarboxylic aciduria, Fasting hyperinsulinemia, Hypoglycemic seizures, Hyperinsulinemic hypoglyc... ORPHA:71212
Lamellar Ichthyosis
Sparse hair, Renal insufficiency, Abnormality of the nail, Aplasia/Hypoplasia of the eyebrow ORPHA:313
Malonyl-Coa Decarboxylase Deficiency
Elevated urine suberic acid level, Hypoglycemia, Methylmalonic aciduria OMIM:248360
Distal Deletion 12Q
Hyperactivity, Median cleft lip, Micrognathia, High, narrow palate, Supernumerary tooth, Esophage... ORPHA:96149
Netherton Syndrome
Sparse scalp hair, Brittle hair, Brittle scalp hair, Sparse eyebrow, Hypereosinophilia OMIM:256500
Native American Myopathy
Micrognathia, Cleft palate, Downturned corners of mouth, High palate, Submucous cleft soft palate... ORPHA:168572
Congenital Myopathy 22A, Classic
Deeply set eye, Synophrys, Proptosis OMIM:620351
Congenital Disorder Of Glycosylation, Type Iie
Neurogenic bladder, Hypoglycemia, Splenomegaly, Low anterior hairline, Failure to thrive, Hydrone... OMIM:608779
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Splenomegaly, Weight loss, Hyperhidrosis ORPHA:86893
Simpson-Golabi-Behmel Syndrome
Ureteral duplication, Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Hydroureter... ORPHA:373
Omenn Syndrome
Alopecia, Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Hypoplasia of t... OMIM:603554
Fanconi Anemia, Complementation Group E
Pancytopenia, Hypergonadotropic hypogonadism, Small for gestational age, Ectopic kidney, Cryptorc... OMIM:600901
Erythrocytosis, Familial, 8
Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:222800
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
Curly hair, Slow-growing hair, Highly arched eyebrow, Hypertelorism, Cryptorchidism, Low posterio... OMIM:617506
Adrenomyeloneuropathy
Urinary incontinence, Frontal balding, Primary adrenal insufficiency, Fine hair, Urinary urgency,... ORPHA:139399
2P15P16.1 Microdeletion Syndrome
Decreased testicular size, Multicystic kidney dysplasia, Supernumerary nipple, Sparse eyebrow, Fi... ORPHA:261349
Eec Syndrome
Slow-growing hair, Decreased response to growth hormone stimulation test, Hypospadias, Sparse eye... ORPHA:1896
Immunodeficiency 27A
Splenomegaly, Leukocytosis, Hepatosplenomegaly, Weight loss, Thrombocytosis, Anemia, Histiocytosis OMIM:209950
Cystic Echinococcosis
Eosinophilia, Abnormality of the testis size, Renal cyst, Weight loss, Ovarian cyst, Membranous n... ORPHA:400
Intestinal Dysmotility Syndrome
Failure to thrive, Weight loss OMIM:620045
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type
Hypospadias, Small for gestational age, Hypertelorism, Cryptorchidism, Low posterior hairline, Hy... OMIM:309590
Central Diabetes Insipidus
Failure to thrive, Diabetes insipidus, Nocturia, Weight loss ORPHA:178029
Olmsted Syndrome 1
Subungual hyperkeratosis, Nail dystrophy, Nail dysplasia, Sparse hair, Alopecia universalis OMIM:614594
Intellectual Developmental Disorder, Autosomal Dominant 54
Anhidrosis, Small for gestational age, Thin nail, Deeply set eye, Urinary retention, Neutropenia,... OMIM:617799
Rhizomelic Chondrodysplasia Punctata
Alopecia, Sparse body hair ORPHA:177
Al-Raqad Syndrome
Deeply set eye OMIM:616459
Localized Scleroderma
Abnormal skin adnexa morphology, Deeply set eye, Proptosis, Patchy alopecia, Hashimoto thyroiditis ORPHA:90289
Jaberi-Elahi Syndrome
Brittle hair, Sparse eyelashes, Sparse eyebrow, Fine hair, Sparse hair OMIM:617988
Fanconi Anemia, Complementation Group A
Male infertility, Pancytopenia, Hypergonadotropic hypogonadism, Small for gestational age, Ectopi... OMIM:227650
Floating-Harbor Syndrome
Hypospadias, Cryptorchidism, Glandular hypospadias, Varicocele, Low posterior hairline, Nephrocal... OMIM:136140
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Thin upper lip vermilion, Supernumerary nipple, Aggressive behavior, Pyloric stenosis, Submucous ... ORPHA:457279
Holocarboxylase Synthetase Deficiency
Alopecia, Organic aciduria, Thrombocytopenia, Weight loss ORPHA:79242
Erythrocytosis, Familial, 3
Increased red blood cell mass, Increased hematocrit, Increased hemoglobin OMIM:609820
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly
Hypertelorism, Hyposegmentation of neutrophil nuclei, Fine hair, Proptosis, Thick eyebrow OMIM:614800
Down Syndrome
Decreased fertility, Obesity, Type II diabetes mellitus, Sparse hair, Hypothyroidism, Acute megak... ORPHA:870
Lessel-Kreienkamp Syndrome
Deeply set eye OMIM:619149
Beckwith-Wiedemann Syndrome
Ureteral duplication, Neonatal hypoglycemia, Large for gestational age, Vesicoureteral reflux, Ne... ORPHA:116
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Ketonuria, Ketotic hypoglycemia, Glycosuria, Postprandial hyperglycemia, Failure to thrive ORPHA:2089
Erythrocytosis, Familial, 1
Increased red blood cell mass, Splenomegaly, Increased hematocrit, Increased hemoglobin OMIM:133100
Infantile Krabbe Disease
Failure to thrive, Cachexia ORPHA:206436
Pseudopseudohypoparathyroidism
Short distal phalanx of the 3rd finger, Short metatarsal, Obesity, Short 5th finger, Short distal... ORPHA:79445
Attrv30M Amyloidosis
Nephropathy, Impotence, Abnormal renal physiology, Weight loss ORPHA:85447
Chand Syndrome
Curly hair, Nail dysplasia OMIM:214350
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Alopecia, Sparse eyelashes, Thick hair, Sparse eyebrow, Splenomegaly, Bile duct proliferation, Sp... OMIM:607626
Mucoepithelial Dysplasia, Hereditary
Alopecia, Eosinophilia, Hematuria, Coarse hair, Nail dystrophy, Nail dysplasia, Sparse hair, Chro... OMIM:158310
Chromosome Xq26.3 Duplication Syndrome
Elevated circulating growth hormone concentration, Pituitary adenoma, Hyperhidrosis, Increased ci... OMIM:300942
Gangliocytoma
Decreased female libido, Pituitary null cell adenoma, Elevated circulating growth hormone concent... ORPHA:251937
Angelman Syndrome
Deeply set eye, Fair hair OMIM:105830
Serkal Syndrome
Abnormal penis morphology, Abnormality of the adrenal glands, Hypospadias, Sex reversal ORPHA:139466
Myhre Syndrome
Small for gestational age, Hypertelorism, Cryptorchidism, Obesity, Fine hair, Deeply set eye, Spa... OMIM:139210
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome
Submucous cleft soft palate, Cleft soft palate, Highly arched eyebrow, Micrognathia ORPHA:2282
Beckwith-Wiedemann Syndrome
Adrenocortical cytomegaly, Overgrowth of external genitalia, Neonatal hypoglycemia, Adrenocortica... OMIM:130650
Glycogen Storage Disease Ixb
Splenomegaly, Hypoglycemia OMIM:261750
Medullary Thyroid Carcinoma
Primary hyperparathyroidism, Hyperhidrosis, Weight loss, Pheochromocytoma, Elevated circulating c... ORPHA:1332
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Failure to thrive, Hypoglycemia, Hypoketotic hypoglycemia ORPHA:5
Lenz-Majewski Hyperostotic Dwarfism
Hypospadias, Anterior pituitary hypoplasia, Hypertelorism, Cryptorchidism, Chordee, Sparse hair, ... OMIM:151050
Intellectual Developmental Disorder, X-Linked, Syndromic 33
Hypertelorism, Synophrys, Deeply set eye, Proptosis, Sparse hair, Toenail dysplasia, Hirsutism OMIM:300966
Ogden Syndrome
Global glomerulosclerosis, Maternal diabetes, Hypertelorism, Sparse eyebrow, Cryptorchidism, Fine... OMIM:300855
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities
Deeply set eye, Obesity OMIM:618430
Rhizomelic Chondrodysplasia Punctata, Type 2
Submucous cleft hard palate, High palate, Micrognathia OMIM:222765
Bathing Suit Ichthyosis
Sparse hair, Alopecia, Nail dystrophy ORPHA:100976
Seckel Syndrome
Sparse scalp hair, Cachexia ORPHA:808
Craniolenticulosutural Dysplasia
Brittle hair, Hypertelorism, Cryptorchidism, Coarse hair, Sparse hair OMIM:607812
Cerebrooculofacioskeletal Syndrome 4
Deeply set eye, Failure to thrive in infancy, Decreased body weight OMIM:610758
Velocardiofacial Syndrome
Aggressive behavior, Velopharyngeal insufficiency, Submucous cleft hard palate, Pierre-Robin sequ... OMIM:192430
Zollinger-Ellison Syndrome
Increased urinary cortisol level, Hyperparathyroidism, Pituitary null cell adenoma, Elevated circ... ORPHA:913
Renal Agenesis, Bilateral
Nonketotic hypoglycemia, Abnormal morphology of female internal genitalia, Hypertelorism ORPHA:1848
Congenital Isolated Acth Deficiency
Decreased circulating cortisol level, Adrenal hypoplasia, Hypoglycemic seizures, Adrenocorticotro... ORPHA:199296
Allergic Bronchopulmonary Aspergillosis
Abnormal eosinophil morphology, Abnormal fingernail morphology, Weight loss ORPHA:1164
Ifap Syndrome 2
Sparse hair, Nail dystrophy, Atrichia OMIM:619016
Pachyonychia Congenita 2
Sparse scalp hair, Dry hair, Subungual hyperkeratosis, Sparse eyebrow, Nail dystrophy, Nail dyspl... OMIM:167210
Orthostatic Hypotension 1
Retrograde ejaculation, Neonatal hypoglycemia, Nocturia, Reduced circulating prolactin concentration OMIM:223360
Ablepharon Macrostomia Syndrome
Absent eyebrow, Hypoplasia of penis, Ambiguous genitalia, Abnormal hair pattern, Absent eyelashes... ORPHA:920
Rhabdoid Tumor
Hematuria, Thrombocytopenia, Anemia, Weight loss ORPHA:69077
Myhre Syndrome
Mandibular prognathia, Craniofacial hyperostosis, Hypoplasia of the maxilla, Submucous cleft hard... ORPHA:2588
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum
Hypertelorism, Synophrys, Fine hair, Proptosis, Long eyelashes OMIM:620250
Epidermolysis Bullosa, Junctional 6, With Pyloric Atresia
Neonatal death, Esophageal stenosis, Congenital pyloric atresia, Oral mucosal blisters OMIM:619817
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis
Deeply set eye, Hypertrichosis OMIM:618590
Phelan-Mcdermid Syndrome
Hypertelorism, Hypoplastic toenails, Deeply set eye, Long eyelashes, Polycystic kidney dysplasia,... OMIM:606232
Neurodevelopmental Disorder With Seizures And Speech And Walking Impairment
Deeply set eye OMIM:618480
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures
Hypoglycemia, Thrombocytopenia OMIM:617710
3-Methylglutaconic Aciduria Type 7
Renal insufficiency, Renal cyst, Nephrocalcinosis, 3-Methylglutaconic aciduria, Infection associa... ORPHA:445038
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3
Absence of Stensen duct, Decreased response to growth hormone stimulation test, Transverse vagina... OMIM:604292
Intellectual Disability, Buenos-Aires Type
Abnormal fingernail morphology, Hypertelorism, Hyperconvex thumb nails, Fine hair, Hydronephrosis ORPHA:3079
Lysinuric Protein Intolerance
Failure to thrive, Splenomegaly, Stage 5 chronic kidney disease, Fine hair, Anemia, Leukopenia, A... OMIM:222700
Intellectual Developmental Disorder, Autosomal Dominant 34
Curly hair, Synophrys, Coarse hair OMIM:616351
Perlman Syndrome
Hypoglycemia, Renal hamartoma, Large for gestational age, Cryptorchidism, Pancreatic islet-cell h... OMIM:267000
Glycogen Storage Disease Ib
Proteinuria, Pancreatic fibrosis, Hypoglycemia, Splenomegaly, Neutropenia, Nephrolithiasis, Focal... OMIM:232220
Cardiofaciocutaneous Syndrome 1
Absent eyebrow, Curly hair, Slow-growing hair, Micrognathia, Absent eyelashes, Open bite, Abnorma... OMIM:115150
Weaver Syndrome
Deep-set nails, Thin nail, Hypertelorism, Cryptorchidism, Fine hair, Hydrocele testis, Sparse hair OMIM:277590
Congenital Disorder Of Glycosylation, Type Im
Alopecia, Sparse eyelashes, Sparse eyebrow, Failure to thrive, Hypoketotic hypoglycemia OMIM:610768
Insulin-Like Growth Factor I Deficiency
Decreased serum insulin-like growth factor 1, Elevated circulating growth hormone concentration, ... OMIM:608747
Meier-Gorlin Syndrome 5
Micrognathia, Hypoplasia of the maxilla, Submucous cleft hard palate, Thick vermilion border, Lon... OMIM:613805
Cutis Laxa, Autosomal Recessive, Type Iib
Deeply set eye, Failure to thrive, Hypertelorism, Hypotelorism OMIM:612940
Wiedemann-Rautenstrauch Syndrome
Decreased response to growth hormone stimulation test, Synophrys, Wide penis, Deeply set eye, Ves... ORPHA:3455
Cardiofaciocutaneous Syndrome 3
Curly hair, Failure to thrive, Hyperhidrosis OMIM:615279
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Decreased response to growth hormone stimulation test, Synophrys, Hypotelorism, Deeply set eye, T... OMIM:619503
Beta-Ketothiolase Deficiency
Ketonuria, Hypoglycemia, Leukocytosis, Weight loss, Thrombocytosis, Hyperglycemia ORPHA:134
Acromegaly
Diabetes mellitus, Abnormal fingernail morphology, Hypogonadotropic hypogonadism, Elevated circul... ORPHA:963
Pyruvate Carboxylase Deficiency
Hypoglycemia, Proximal renal tubular acidosis OMIM:266150
Autosomal Recessive Faciodigitogenital Syndrome
Dry hair, Hypopigmentation of hair, Hypertelorism, Widow's peak, Coarse hair, Shawl scrotum ORPHA:1974
Trichorhinophalangeal Syndrome, Type I
Slow-growing hair, Thin nail, Concave nail, Leukonychia, Fine hair, Thin eyebrow, Sparse hair, Sp... OMIM:190350
Dyskeratosis Congenita, Autosomal Recessive 6
Sparse hair, Alopecia, Nail dystrophy OMIM:616353
Leishmaniasis
Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Weight loss, Anemia, Leukopenia, Thro... ORPHA:507
Rothmund-Thomson Syndrome Type 2
Aplastic anemia, Alopecia totalis, Small for gestational age, Cryptorchidism, Sparse or absent ey... ORPHA:221016
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis
Woolly hair, Fragile nails, Nail dystrophy, Leukonychia OMIM:615821
Global Developmental Delay-Visual Anomalies-Progressive Cerebellar Atrophy-Truncal Hypotonia Syndrome
Deeply set eye, Low anterior hairline ORPHA:480898
Cushing Syndrome Due To Ectopic Acth Secretion
Adrenal hyperplasia, Pancreatoblastoma, Pituitary corticotropic cell adenoma, Neoplasm of the thy... ORPHA:99889
Carnitine Deficiency, Systemic Primary
Impaired gluconeogenesis, Failure to thrive, Dicarboxylic aciduria, Recurrent hypoglycemia OMIM:212140
X-Linked Creatine Transporter Deficiency
Cachexia ORPHA:52503
Combined Oxidative Phosphorylation Defect Type 39
Cryptorchidism, Neonatal hypoglycemia ORPHA:565624
Glycogen Storage Disease Ixa1
Splenomegaly, Hypoglycemia OMIM:306000
Neurooculorenal Syndrome
Decreased circulating cortisol level, Ectopic posterior pituitary, Highly arched eyebrow, Unilate... OMIM:620305
Witteveen-Kolk Syndrome
Medial flaring of the eyebrow, Hypospadias, Hyperconvex nail, Decreased response to growth hormon... OMIM:613406
Fanconi Anemia, Complementation Group D2
Pancytopenia, Hypergonadotropic hypogonadism, Small for gestational age, Hypertelorism, Ectopic k... OMIM:227646
Noonan Syndrome
Abnormal hair quantity, Hypogonadotropic hypogonadism, Hypertelorism, Abnormality of the spleen, ... ORPHA:648
Isaacs Syndrome
Weight loss, Hyperhidrosis ORPHA:84142
Gardner Syndrome
Duodenal polyposis, Abnormality of the dentition, Supernumerary tooth, Adenomatous colonic polypo... ORPHA:79665
Hemochromatosis, Neonatal
Hypoglycemia OMIM:231100
Hereditary Orotic Aciduria
Orotic acid crystalluria, Hypertelorism, Splenomegaly, Abnormality of the ureter, Aminoaciduria, ... ORPHA:30
Richieri-Costa/Guion-Almeida Syndrome
Deeply set eye, Hypotelorism OMIM:268850
Timothy Syndrome
Hypothyroidism, Hypoglycemia OMIM:601005
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome
Sparse hair, Alopecia, Abnormal toenail morphology, Hypertelorism ORPHA:1005
Undifferentiated Pleomorphic Sarcoma
Weight loss ORPHA:2023
Adult Syndrome
Sparse scalp hair, Alopecia, Absent nipple, Breast hypoplasia, Nail pits, Fine hair, Fingernail d... ORPHA:978
Combined Immunodeficiency-Enteropathy Spectrum
Absent eyebrow, Autoimmune hemolytic anemia, Hypoplasia of the thymus, Nail dystrophy, Type I dia... ORPHA:436252
Erythrocytosis, Familial, 6
Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:617980
Opitz-Kaveggia Syndrome
Hypospadias, Hypertelorism, Cryptorchidism, Fine hair, Frontal upsweep of hair, Sparse hair OMIM:305450
Revesz Syndrome
Aplastic anemia, Nail pits, Fine hair, Nail dystrophy, Sparse hair, Ridged fingernail OMIM:268130
Primrose Syndrome
Sparse scalp hair, Diabetes mellitus, Hypergonadotropic hypogonadism, Absent facial hair, Hyperte... OMIM:259050
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency
Ketonuria, Hypoglycemia, Elevated urinary 3-methylcrotonylglycine level, Failure to thrive, 3-hyd... OMIM:210200
Turner Syndrome Due To Structural X Chromosome Anomalies
Ectopic kidney, Hypoplastic toenails, Hyperconvex fingernails, Glucose intolerance, Hashimoto thy... ORPHA:99413
Mosaic Monosomy X
Ectopic kidney, Hypoplastic toenails, Hyperconvex fingernails, Glucose intolerance, Hashimoto thy... ORPHA:99228
Monosomy X
Ectopic kidney, Hypoplastic toenails, Hyperconvex fingernails, Glucose intolerance, Hashimoto thy... ORPHA:99226
Wieacker-Wolff Syndrome, Female-Restricted
Deeply set eye, Urinary incontinence OMIM:301041
Turner Syndrome
Ectopic kidney, Hypoplastic toenails, Hyperconvex fingernails, Glucose intolerance, Hashimoto thy... ORPHA:881
Pelizaeus-Merzbacher Disease In Female Carriers
Deeply set eye, Neurogenic bladder, Hypertelorism ORPHA:280229
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Natal tooth, Hyperactivity, Dental crowding, Intestinal malrotation, Impulsivity, Aggressive beha... ORPHA:353281
Tyrosinemia, Type I
Renal insufficiency, Hypoglycemia, Splenomegaly, Nephrocalcinosis, Renal Fanconi syndrome, Pancre... OMIM:276700
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Submucous cleft hard palate, Cleft palate, Failure of eruption of permanent teeth, Tooth malposit... ORPHA:2250
Dubowitz Syndrome
Delayed eruption of teeth, Sparse scalp hair, Hyperactivity, Micrognathia, Carious teeth, Velopha... OMIM:223370
Rett Syndrome
Cachexia OMIM:312750
Lesch-Nyhan Syndrome
Megaloblastic anemia, Nephrolithiasis, Hyperuricosuria, Nephrocalcinosis, Testicular atrophy OMIM:300322
Spinocerebellar Ataxia-Dysmorphism Syndrome
Coarse hair, Proptosis ORPHA:1185
Cutis Laxa, Autosomal Recessive, Type Iia
Failure to thrive, Coarse hair, Brittle hair, Abnormality of hair texture OMIM:219200
Hereditary Central Diabetes Insipidus
Diabetes insipidus, Weight loss ORPHA:30925
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Accessory spleen, Severe B lymphocytopenia, Cryptorchidism, Renal hypoplasia, Anemia, Sparse hair... OMIM:620005
Silver-Russell Syndrome 2
Neonatal hypoglycemia, Hyperhidrosis OMIM:618905
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2
Sparse hair, Failure to thrive, Hyperconvex nail OMIM:619721
Polycystic Ovary Syndrome 1
Obesity OMIM:184700
Erdheim-Chester Disease
Renal insufficiency, Hypogonadotropic hypogonadism, Dysuria, Hyperhidrosis, Weight loss, Proptosi... ORPHA:35687
Amelo-Onycho-Hypohidrotic Syndrome
Hypoplastic toenails, Onycholysis, Abnormal fingernail morphology, Fine hair ORPHA:1028
Cerebroretinal Microangiopathy With Calcifications And Cysts 1
Fine hair, Premature graying of hair, Anemia, Nail dystrophy, Nail dysplasia, Sparse hair, Thromb... OMIM:612199
Orofaciodigital Syndrome Type 3
Stage 5 chronic kidney disease, Abnormality of hair texture, Hypertelorism ORPHA:2752
Primary Ciliary Dyskinesia
Male infertility, Female infertility, Asplenia, Polysplenia, Abnormal sperm motility ORPHA:244
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation
Hypertelorism, Dilatation of renal calices, Synophrys, Hirsutism, Obesity, Deeply set eye, Trunca... ORPHA:466950
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Nonketotic hypoglycemia, Ureteral duplication, Renal insufficiency, Hypoglycemia, Long-chain dica... OMIM:608836
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Curly hair, Abnormal fingernail morphology, Thick hair, Highly arched eyebrow, Decreased response... ORPHA:444077
Noonan Syndrome 7
Curly hair, Large for gestational age, Hypertelorism, Hyperhidrosis, Low posterior hairline OMIM:613706
Oculogastrointestinal Muscular Dystrophy
Cachexia ORPHA:1876
Apc-Related Attenuated Familial Adenomatous Polyposis
Duodenal polyposis, Supernumerary tooth, Adenomatous colonic polyposis, Esophageal carcinoma, Mul... ORPHA:247806
Adams-Oliver Syndrome
Alopecia, Aplastic/hypoplastic toenail, Leukopenia, Absent fingernail, Sparse hair, Thrombocytope... ORPHA:974
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome
Neonatal hypoglycemia, Hypertelorism, Sparse eyebrow, Large for gestational age, Proptosis, Shall... ORPHA:457359
Gm1 Gangliosidosis
Splenomegaly, Hepatosplenomegaly, Weight loss, Abnormality of the scrotum, Failure to thrive, Gen... ORPHA:354
Parathyroid Carcinoma
Renal insufficiency, Pancreatic adenocarcinoma, Renal hamartoma, Testicular neoplasm, Primary hyp... ORPHA:143
Fanconi Anemia
Pyridoxine-responsive sideroblastic anemia, Renal insufficiency, Hydroureter, Hypospadias, Hypert... ORPHA:84
Hsd10 Disease, Infantile Type
Abnormal concentration of acylcarnitine in the urine, Hypoglycemia ORPHA:391428
Hawkinsinuria
Sparse hair, Hawkinsinuria, 4-hydroxyphenylacetic aciduria, 4-Hydroxyphenylpyruvic aciduria OMIM:140350
Trichohepatoneurodevelopmental Syndrome
Curly hair, Cholelithiasis, Hypertelorism, Splenomegaly, Synophrys, Coarse hair, Long eyelashes, ... OMIM:618268
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome
Proteinuria, Hypertelorism, Precocious puberty, Cryptorchidism, Nail dysplasia, Sparse hair OMIM:616682
Familial Pancreatic Carcinoma
Pancreatic adenocarcinoma, Diabetes mellitus, Hepatosplenomegaly, Weight loss, Ovarian carcinoma,... ORPHA:1333
Tolchin-Le Caignec Syndrome
Micrognathia, Submucous cleft hard palate, Hirsutism, High palate, Attention deficit hyperactivit... OMIM:618971
Conductive Deafness-Ptosis-Skeletal Anomalies Syndrome
Fine hair ORPHA:3236
Hypothyroidism, Central, With Testicular Enlargement
Overweight OMIM:300888
3-Hydroxy-3-Methylglutaric Aciduria
Nonketotic hypoglycemia, Acute pancreatitis, Ketonuria, Leukocytosis, Weight loss, Leukopenia, 3-... ORPHA:20
Mitochondrial Complex Iii Deficiency, Nuclear Type 6
Failure to thrive, Ketonuria, Hypoglycemia, Hyperglycemia OMIM:615453
Noonan Syndrome 2
Curly hair, Hypertelorism, Sparse eyebrow, Cryptorchidism, Low posterior hairline, Leukemia OMIM:605275
Alström Syndrome
Decreased response to growth hormone stimulation test, Urinary incontinence, Elevated circulating... ORPHA:64
Wilson Disease
Abnormality of the menstrual cycle, Splenomegaly, Increased body weight, Weight loss, Anemia, Fai... ORPHA:905
Ectodermal Dysplasia 10B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive
Sparse hair, Sparse eyelashes, Sparse eyebrow OMIM:224900
Gorlin-Chaudhry-Moss Syndrome
Coarse hair, Low anterior hairline, Generalized hirsutism, Hypertelorism ORPHA:2095
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Hyperthyroidism, Small for gestational age, Thyrotoxicosis with diffuse goiter, Activating thyroi... ORPHA:424
Oligodontia-Colorectal Cancer Syndrome
Sparse scalp hair, Absent eyebrow, Sparse axillary hair, Short eyelashes, Sparse body hair OMIM:608615
Bladder Exstrophy
Hypoplasia of penis, Epispadias, Abnormality of the ureter, Abnormality of the clitoris, Vesicour... ORPHA:93930
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type
Hypertelorism, Failure to thrive, Curly hair, Hypotelorism OMIM:300986
Desmosterolosis
Intestinal malrotation, Micrognathia, Submucous cleft hard palate, Cleft palate, Narrow mouth, Re... ORPHA:35107
Fryns-Smeets-Thiry Syndrome
Cachexia ORPHA:2058
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome
Deeply set eye ORPHA:2570
Fibrous Dysplasia Of Bone
Hyperthyroidism, Precocious puberty in females, Diabetes mellitus, Elevated circulating growth ho... ORPHA:249
Pituitary Adenoma 2, Growth Hormone-Secreting
Pituitary adenoma, Elevated circulating growth hormone concentration OMIM:300943
Somatomammotropinoma
Diabetes mellitus, Abnormal fingernail morphology, Hypogonadotropic hypogonadism, Elevated circul... ORPHA:314769
Chronic Hiccup
Weight loss ORPHA:396
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Impaired gluconeogenesis, Ketonuria, Hypoglycemia, Fasting hypoglycemia OMIM:261680
Non-Functioning Paraganglioma
Paraganglioma of head and neck, Elevated urinary norepinephrine level, Episodic hyperhidrosis, El... ORPHA:94080
Glycogen Storage Disease Ia
Proteinuria, Hypoglycemia, Nephrolithiasis, Focal segmental glomerulosclerosis, Fasting hypoglyce... OMIM:232200
Ectodermal Dysplasia-Blindness Syndrome
Sparse hair, Abnormal fingernail morphology, Fine hair ORPHA:1806
Dyskeratosis Congenita, X-Linked
Acute myeloid leukemia, Ridged nail, Pancytopenia, Split nail, Alopecia, Sparse eyelashes, Hyposp... OMIM:305000
Glycogen Storage Disease Ixd
Hypoglycemia, Exercise-induced myoglobinuria OMIM:300559
Cystinosis, Nephropathic
Aminoaciduria, Renal Fanconi syndrome, Low-molecular-weight proteinuria, Male hypogonadism, Male ... OMIM:219800
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked
Absent eyebrow, Anhidrosis, Brittle hair, Absent nipple, Sparse eyelashes, Concave nail, Absent e... OMIM:305100
19P13.13 Microdeletion Syndrome
Deeply set eye, Long eyelashes, Hypertelorism ORPHA:357001
Premature Aging Syndrome, Penttinen Type
Hypertelorism, Elevated circulating thyroid-stimulating hormone concentration, Hypotelorism, Prop... OMIM:601812
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive
Sparse hair, Alopecia, Fragile nails OMIM:242150
Gaisböck Syndrome
Diabetes mellitus, Overweight, Splenomegaly, Increased mean corpuscular hemoglobin concentration,... ORPHA:90041
Multiple Endocrine Neoplasia Type 1
Pituitary corticotropic cell adenoma, Pituitary gonadotropic cell adenoma, Pancreatic endocrine t... ORPHA:652
Giant Axonal Neuropathy 1, Autosomal Recessive
Curly hair OMIM:256850
Mitochondrial Complex I Deficiency, Nuclear Type 20
Dicarboxylic aciduria, Hypoglycemia, Thrombocytopenia OMIM:611126
Bardet-Biedl Syndrome 6
Syndactyly, Obesity, Postaxial polydactyly OMIM:605231
Chromosome 16P13.3 Duplication Syndrome
Hypertelorism, Cryptorchidism, Synophrys, Low anterior hairline, Deeply set eye, Hirsutism OMIM:613458
Multiple Endocrine Neoplasia, Type Iv
Hyperparathyroidism, Elevated circulating growth hormone concentration, Pancreatic endocrine tumo... OMIM:610755
Bronchial Neuroendocrine Tumor
Elevated circulating growth hormone concentration, Increased circulating ACTH level, Pulmonary ca... ORPHA:97287
Retinitis Pigmentosa With Or Without Skeletal Anomalies
Sparse eyelashes, Sparse eyebrow, Renal cyst, Horseshoe kidney, Small nail, Sparse hair, High ant... OMIM:250410
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures
Hypertelorism, Pseudohypoparathyroidism, Renal hypoplasia, Obesity, Deeply set eye, Sparse hair, ... OMIM:617157
Kabuki Syndrome 2
Highly arched eyebrow, Neonatal hypoglycemia, Horseshoe kidney, Long eyelashes, Decreased body we... OMIM:300867
Pachydermoperiostosis
Abnormal hair quantity, Abnormal fingernail morphology, Abnormal hair pattern, Elevated circulati... ORPHA:2796
Craniolenticulosutural Dysplasia
Sparse hair, Coarse hair, Brittle hair, Hypertelorism ORPHA:50814
Aggressive Systemic Mastocytosis
Pancytopenia, Hypersplenism, Thrombocytopenia, Leukocytosis, Hepatosplenomegaly, Weight loss, Inc... ORPHA:98850
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Bifid scrotum, Abnormal penis morphology, Hypospadias, Hypertelorism, Epispadias, Proptosis, Shaw... ORPHA:2211
Teebi-Shaltout Syndrome
Ureteral stenosis, Slow-growing hair, Highly arched eyebrow, Hypertelorism, Low anterior hairline... OMIM:272950
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency
Hypoglycemia ORPHA:364
Lateral Meningocele Syndrome
Cryptorchidism, Coarse hair, Neurogenic bladder, Hypertelorism OMIM:130720
Orofaciodigital Syndrome Type 4
Median cleft lip, Abnormal oral mucosa morphology, Micrognathia, High, narrow palate, Abnormality... ORPHA:2753
Combined Oxidative Phosphorylation Deficiency 37
Failure to thrive, 3-Methylglutaconic aciduria, Bile duct proliferation, Hypoglycemia OMIM:618329
Erythrocytosis, Familial, 7
Increased hematocrit, Polycythemia OMIM:617981
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques
Sparse hair, Alopecia, Abnormal fingernail morphology ORPHA:659
Generalized Pseudohypoaldosteronism Type 1
Failure to thrive in infancy, Glucocortocoid-insensitive primary hyperaldosteronism, Weight loss,... ORPHA:171876
Shigellosis
Failure to thrive in infancy, Hypoglycemia, Hemolytic-uremic syndrome, Leukocytosis, Urethritis, ... ORPHA:810
Acute Promyelocytic Leukemia
Pancytopenia, Metrorrhagia, Leukocytosis, Weight loss, Anemia, Leukopenia, Hematuria, Neutropenia... ORPHA:520
Familial Adenomatous Polyposis
Duodenal polyposis, Abnormality of the dentition, Supernumerary tooth, Adenomatous colonic polypo... ORPHA:733
Cog8-Cdg
Failure to thrive, Hypoglycemia ORPHA:95428
Distal 22Q11.2 Microduplication Syndrome
Unilateral renal agenesis, Hypertelorism, Hypoplastic toenails, Cryptorchidism, Low posterior hai... ORPHA:261337
Nicolaides-Baraitser Syndrome
Absent eyebrow, Dry hair, Sparse scalp hair, Failure to thrive, Cryptorchidism, Low anterior hair... OMIM:601358
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
Woolly hair OMIM:607450
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Sparse hair, Failure to thrive, Reduced circulating growth hormone concentration OMIM:615508
Bone Dysplasia, Lethal Holmgren Type
Failure to thrive, Anemia, Weight loss ORPHA:1842
Obesity-Hypoventilation Syndrome
Obesity OMIM:257500
Microphthalmia, Syndromic 2
Delayed eruption of teeth, Persistence of primary teeth, Supernumerary tooth, Submucous cleft har... OMIM:300166
Intellectual Developmental Disorder, Autosomal Dominant 66
Sparse hair OMIM:619910
Marshall Syndrome
Sparse eyelashes, Hypertelorism, Sparse eyebrow, Proptosis, Sparse hair ORPHA:560
Galloway-Mowat Syndrome 3
Diffuse mesangial sclerosis, Proteinuria, Hypertelorism, Stage 5 chronic kidney disease, Deeply s... OMIM:617729
Bullous Pemphigoid
Diabetes mellitus, Weight loss ORPHA:703
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Deeply set eye, Failure to thrive ORPHA:60040
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Weight loss, Hyperthyroidism, Goiter OMIM:188580
Holoprosencephaly 13, X-Linked
Median cleft lip, Micrognathia, Submucous cleft hard palate, Cleft palate, Solitary median maxill... OMIM:301043
Multiple Acyl-Coa Dehydrogenase Deficiency
Hypoglycemia, Glutaric aciduria, Generalized aminoaciduria, Renal cortical cysts, Proximal tubulo... OMIM:231680
Orofaciodigital Syndrome Xiv
Microretrognathia, Natal tooth, Hamartoma of tongue, Micrognathia, Cleft lip, Supernumerary tooth... OMIM:615948
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2
Brittle hair, Hypospadias OMIM:619184
Ablepharon-Macrostomia Syndrome
Absent eyebrow, Ambiguous genitalia, Hypertelorism, Absent eyelashes, Hypoplastic labia majora, H... OMIM:200110
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Abnormal mitochondrial shape, Hypospadias, Hypoglycemia, Methylmalonic aciduria, Hyperhidrosis, 3... ORPHA:17
Congenital Disorder Of Glycosylation, Type It
Decreased serum insulin-like growth factor 1, Hypoglycemia, Hydronephrosis, Delayed puberty OMIM:614921
Intellectual Developmental Disorder, Autosomal Dominant 68
Sparse hair, Deeply set eye, Urinary incontinence OMIM:619934
Hereditary Sensory And Autonomic Neuropathy Type 5
Deeply set eye, Anhidrosis ORPHA:64752
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma
Alopecia, Sparse eyelashes, Sparse eyebrow, Nail dystrophy, Woolly hair OMIM:605676
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity
Deeply set eye, Dilated third ventricle, Obesity OMIM:617296
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Dental crowding, Impulsivity, Aggressive behavior, Tremor, High, narrow palate, Wide mouth, Short... OMIM:300967
Multiple Acyl-Coa Dehydrogenase Deficiency
Acute pancreatitis, Hypoglycemia, Glutaric aciduria, Lacticaciduria, 3-Methylglutaric aciduria, E... ORPHA:26791
Cockayne Syndrome Type 3
Dry hair, Renal insufficiency, Neurogenic bladder, Hydroureter, Unilateral renal agenesis, Spleno... ORPHA:90324
Arboleda-Tham Syndrome
Microretrognathia, Mandibular prognathia, Thin upper lip vermilion, Dystonia, Intestinal malrotat... OMIM:616268
Toxic Epidermal Necrolysis
Renal insufficiency, Dysuria, Abnormality of the urethra, Weight loss, Anemia, Neutropenia, Abnor... ORPHA:537
Hirschsprung Disease
Neoplasm of the thyroid gland, Failure to thrive in infancy, Weight loss ORPHA:388
Takayasu Arteritis
Weight loss, Anemia, Hyperhidrosis ORPHA:3287
Gapo Syndrome
Alopecia, Sparse eyelashes, Hypertelorism, Sparse eyebrow, Hypoplastic nipples, Nail dysplasia, S... OMIM:230740
Holoprosencephaly 1
Hypoglycemia, Adrenal hypoplasia, Micropenis, Hypotelorism, Cyclopia, Diabetes insipidus OMIM:236100
Cerebrofaciothoracic Dysplasia
Abnormal hair pattern, Hypertelorism, Synophrys, Low posterior hairline, Coarse hair, Thick eyebrow ORPHA:1394
Noonan Syndrome 10
Sparse eyebrow, Curly hair, Cryptorchidism, Hypertelorism OMIM:616564
Hypogonadotropic Hypogonadism 27 Without Anosmia
Obesity OMIM:619755
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Lymphopenia, White hair, Anemia, Fine hair ORPHA:935
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Bifid scrotum, Thick eyebrow, Failure to thrive, Hypospadias, Hypertelorism, Overweight, Synophry... OMIM:619475
Paternal Uniparental Disomy Of Chromosome 6
Neonatal insulin-dependent diabetes mellitus, Precocious puberty, Cryptorchidism, Labial hypertro... ORPHA:96191
Pearson Marrow-Pancreas Syndrome
Sideroblastic anemia, Pancytopenia, Failure to thrive, Pancreatic fibrosis, Small for gestational... OMIM:557000
Glutaric Acidemia I
Glutaric aciduria, Failure to thrive, Ketonuria, Hypoglycemia OMIM:231670
Carnitine Palmitoyl Transferase 1A Deficiency
Renal tubular acidosis, Hypoglycemia ORPHA:156
Floating-Harbor Syndrome
Hypospadias, Small for gestational age, Precocious puberty, Cryptorchidism, Stage 5 chronic kidne... ORPHA:2044
Marshall-Smith Syndrome
Failure to thrive, Brittle hair, Highly arched eyebrow, Bilateral cryptorchidism, Cryptorchidism,... OMIM:602535
Maple Syrup Urine Disease
Increased level of hippuric acid in urine, Pancreatitis, Hypoglycemia OMIM:248600
Familial Colorectal Cancer Type X
Neoplasm of the pancreas, Pancreatic adenocarcinoma, Pituitary adenoma, Ovarian neoplasm, Weight ... ORPHA:440437
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia
Long eyelashes, Broad lateral eyebrow, Neonatal hypoglycemia, Obesity OMIM:608624
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome
Highly arched eyebrow, Hypertelorism, Large for gestational age, Fine hair, Acute lymphoblastic l... OMIM:280000
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hypoglycemia, Splenomegaly, Generalized aminoaciduria, Failure to thrive, Thrombocytopenia OMIM:251880
Bladder Exstrophy And Epispadias Complex
Hydroureter, Unilateral renal agenesis, Epispadias, Horseshoe kidney, Bladder exstrophy, Bifid cl... OMIM:600057
X-Linked Intellectual Disability, Snyder Type
Hypospadias, Hypertelorism, Sparse eyebrow, Ectopic kidney, Synophrys, Cryptorchidism, Proptosis,... ORPHA:3063
Non-Progressive Cerebellar Ataxia With Intellectual Disability
Aggressive behavior, Narrow mouth, Thick lower lip vermilion, Mesiodens, Long philtrum, Intention... ORPHA:314647
Familial Gestational Hyperthyroidism
Hyperthyroidism, Thyrotoxicosis with diffuse goiter, Activating thyroid-stimulating hormone recep... ORPHA:99819
Histiocytoid Cardiomyopathy
Failure to thrive, Hypoglycemia, Renal cyst, Polycystic ovaries ORPHA:137675
Scalp-Ear-Nipple Syndrome
Ureteral duplication, Abnormal fingernail morphology, Pyelonephritis, Hypohidrosis, Duplication o... ORPHA:2036
White-Sutton Syndrome
Hypertelorism, Obesity, Hypoglycemic seizures, Sparse hair, Failure to thrive OMIM:616364
Ectodermal Dysplasia And Immunodeficiency 2
Sparse scalp hair, Anhidrosis, Splenomegaly, Hypohidrosis, Aplasia of the sweat glands, Sparse ha... OMIM:612132
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Brittle hair, Methioninuria, Failure to thrive, Homocystinuria, Pancreatitis OMIM:236200
Neuroblastoma, Susceptibility To, 1
Elevated urinary catecholamine level, Elevated urinary dopamine level, Abnormality of urine catec... OMIM:256700
Autosomal Recessive Cutis Laxa Type 2, Classic Type
Thick hair, Hypertelorism, Coarse hair, Sparse hair, Failure to thrive ORPHA:357074
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Weight loss ORPHA:2198
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Ketonuria, Hypospadias, Small for gestational age, Highly arched eyebrow, Hypertelorism, Hypoglyc... OMIM:220111
Isolated Complex I Deficiency
Failure to thrive, Proximal tubulopathy, Diabetes mellitus, Hypoglycemia ORPHA:2609
Anaplastic Thyroid Carcinoma
Nodular goiter, Weight loss, Anaplastic thyroid carcinoma, Goiter ORPHA:142
Fontaine Progeroid Syndrome
Sparse scalp hair, Failure to thrive, Absent nipple, Small scrotum, Small for gestational age, Hy... OMIM:612289
Refractory Celiac Disease
Normocytic anemia, Macrocytic anemia, Microcytic anemia, Increased proportion of HLA DR+ T cells,... ORPHA:398063
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Natal tooth, Hyperactivity, Dental crowding, Intestinal malrotation, Trichiasis, Highly arched ey... ORPHA:353284
Mast Cell Sarcoma
Mastocytosis, Splenomegaly, Weight loss ORPHA:66661
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Natal tooth, Hyperactivity, Dental crowding, Intestinal malrotation, Trichiasis, Highly arched ey... ORPHA:353277
Double Outlet Right Ventricle
Submucous cleft hard palate, Intestinal malrotation, Cleft palate, Narrow mouth ORPHA:3426
Noonan Syndrome 1
Male infertility, Amegakaryocytic thrombocytopenia, Juvenile myelomonocytic leukemia, Hypospadias... OMIM:163950
Cloacal Exstrophy
Hypoplasia of penis, Hydroureter, Ectopic kidney, Horseshoe kidney, Abnormality of the clitoris, ... ORPHA:93929
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder
Curly hair, Highly arched eyebrow, Hypertelorism, Low posterior hairline, Thick eyebrow OMIM:617360
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome
Compensated hypothyroidism, Hypoglycemia, Ketonuria, Hypoglycemic seizures ORPHA:480864
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia
Ridged nail, Absent eyebrow, Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Nail dystrophy,... ORPHA:1010
Orofaciodigital Syndrome Type 14
Microretrognathia, Hamartoma of tongue, Accessory oral frenulum, Supernumerary tooth, Aplasia of ... ORPHA:434179
Fructose-1,6-Bisphosphatase Deficiency
Increased urinary glycerol, Hypoglycemia, Fasting hypoglycemia, Neonatal hypoglycemia ORPHA:348
Lynch Syndrome
Neoplasm of the pancreas, Pancreatic adenocarcinoma, Pituitary adenoma, Ovarian neoplasm, Weight ... ORPHA:144
Cranioectodermal Dysplasia 3
Short nail, Broad nail, Stage 5 chronic kidney disease, Fine hair, Nephronophthisis, Sparse hair OMIM:614099
Diffuse Alveolar Hemorrhage
Proteinuria, Leukocytosis, Weight loss, Hematuria, Anemia, Thrombocytopenia ORPHA:90060
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Small for gestational age, Hypoglycemia, Aminoaciduria, Failure to thrive, Neonatal hypoglycemia OMIM:619055
Mitochondrial Complex I Deficiency, Nuclear Type 1
3-hydroxydicarboxylic aciduria, Hypospadias, Hypoglycemia, Splenomegaly, Lacticaciduria, Failure ... OMIM:252010
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)
Slender build, Cachexia, Weight loss OMIM:603041
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome
Abnormality of the thyroid gland, Cachexia ORPHA:1969
Cholera
Abnormality of renal excretion, Hypoglycemia, Deeply set eye, Acute kidney injury, Decreased urin... ORPHA:173
Neonatal Marfan Syndrome
Deeply set eye, Small for gestational age, Decreased testicular size ORPHA:284979
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Failure to thrive, Proteinuria, Vaginal neoplasm, Chronic kidney disease, Stage 5 chronic kidney ... ORPHA:1018
Scalp-Ear-Nipple Syndrome
Renal insufficiency, Sparse axillary hair, Unilateral renal agenesis, Sparse pubic hair, Renal hy... OMIM:181270
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of
Medium chain dicarboxylic aciduria, Hyperglycinuria, Hypoglycemia OMIM:201450
Doors Syndrome
Thin upper lip vermilion, Short lingual frenulum, Abnormality of the dentition, Thick lower lip v... ORPHA:79500
Zttk Syndrome
Curly hair, Absent gallbladder, Polyuria, Unilateral renal agenesis, Sparse eyebrow, Horseshoe ki... OMIM:617140
Carnitine-Acylcarnitine Translocase Deficiency
Dicarboxylic aciduria, Hypoglycemia, Neonatal hypoglycemia OMIM:212138
Multiple Sulfatase Deficiency
Splenomegaly, Coarse hair, Mucopolysacchariduria, Thick eyebrow ORPHA:585
Oculopharyngodistal Myopathy
Weight loss ORPHA:98897
Huntington Disease-Like 2
Weight loss OMIM:606438
Hajdu-Cheney Syndrome
Abnormal fingernail morphology, Hypospadias, Hypertelorism, Splenomegaly, Synophrys, Low anterior... ORPHA:955
Mitochondrial Trifunctional Protein Deficiency
Hypoparathyroidism, Failure to thrive in infancy, Hypoketotic hypoglycemia ORPHA:746
Neurofacioskeletal Syndrome With Or Without Renal Agenesis
Thin upper lip vermilion, Supernumerary nipple, Deep philtrum, Submucous cleft hard palate, Thin ... OMIM:619194
Duane Retraction Syndrome
Deeply set eye, Patchy hypopigmentation of hair, Ectopic kidney, Low posterior hairline ORPHA:233
Chondrodysplasia Punctata 2, X-Linked Dominant
Sparse eyelashes, Sparse eyebrow, Patchy alopecia, Sparse hair, Failure to thrive, Hydronephrosis OMIM:302960
Deafness-Lymphedema-Leukemia Syndrome
Abnormal neutrophil count, Splenomegaly, Leukocytosis, Acute leukemia, Weight loss, Myeloprolifer... ORPHA:3226
Bone Fragility With Contractures, Arterial Rupture, And Deafness
Nail dysplasia, Coarse hair, Thrombocytopenia, Shallow orbits OMIM:612394
Naxos Disease
Subungual hyperkeratosis, Curly hair, Sparse eyebrow, Onycholysis, Nail dystrophy, Woolly hair, S... OMIM:601214
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Decreased proportion of CD8-positive T cells, Hypereosinophilia, Horseshoe kidney, T lymphocytope... ORPHA:508533
Acyl-Coa Dehydrogenase 9 Deficiency
Nonketotic hypoglycemia, Failure to thrive, Dicarboxylic aciduria, Thrombocytopenia ORPHA:99901
Trichorhinophalangeal Syndrome, Type Ii
Sparse scalp hair, Thick eyebrow, Bilateral cryptorchidism, Hydrometrocolpos, Vesicoureteral refl... OMIM:150230
Stuve-Wiedemann Syndrome 1
Sparse hair, Deeply set eye OMIM:601559
Sporadic Pheochromocytoma/Secreting Paraganglioma
Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Proteinuria, Elevated urinary nore... ORPHA:276621
Craniosynostosis And Dental Anomalies
Mandibular prognathia, Delayed eruption of teeth, Dental crowding, Hypoplasia of the maxilla, Sup... OMIM:614188
Congenital Myopathy 22B, Severe Fetal
Deeply set eye, Synophrys, Proptosis OMIM:620369
Follicular Lymphoma
Splenomegaly, Weight loss ORPHA:545
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Renal insufficiency, Ketonuria, Hypoglycemia, Megaloblastic anemia, Hemolytic-uremic syndrome, Me... ORPHA:79282
Microcephaly 29, Primary, Autosomal Recessive
Reduced renal corticomedullary differentiation, Deeply set eye, Thick eyebrow OMIM:620047
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Curly hair, Proptosis ORPHA:85184
Tetrasomy 9P
Absent gallbladder, Hypertelorism, Cryptorchidism, Pilomatrixoma, Horseshoe kidney, Oligozoosperm... ORPHA:3310
Neutral Lipid Storage Myopathy
Hand muscle weakness, Fatty replacement of skeletal muscle, Generalized limb muscle atrophy, Obes... ORPHA:98908
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Absent nipple, Aplasia of the thymus, Hypertelorism, Sparse eyebrow, Congenital hypothyroidism, H... OMIM:620186
Thyroid Hormone Resistance, Generalized, Autosomal Recessive
Small for gestational age, Increased body weight OMIM:274300
Distal 17P13.1 Microdeletion Syndrome
Deeply set eye ORPHA:319171
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1
Submucous cleft hard palate, Bifid uvula OMIM:617660
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome
Hypertelorism, Synophrys, Obesity, Deeply set eye, Pelvic kidney, Dilatation of renal calices ORPHA:466943
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Failure to thrive, Small for gestational age, Hydronephrosis, Hypoglycemia OMIM:617093
Hereditary Pheochromocytoma-Paraganglioma
Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Proteinuria, Elevated urinary nore... ORPHA:29072
Mitochondrial Complex Iv Deficiency, Nuclear Type 22
3-hydroxydicarboxylic aciduria, Increased urine alpha-ketoglutarate concentration, Dicarboxylic a... OMIM:619355
Immunodeficiency 59 And Hypoglycemia
High anterior hairline, Hypoglycemia, Decreased proportion of class-switched memory B cells OMIM:233600
Pyomyositis
Renal insufficiency, Leukocytosis, Weight loss, Testicular teratoma ORPHA:764
Huntington Disease
Weight loss, Decreased body mass index, Abnormal libido ORPHA:399
Walker-Warburg Syndrome
Submucous cleft hard palate, Bifid uvula, Cleft palate ORPHA:899
Monocarboxylate Transporter 1 Deficiency
Ketonuria, Ketotic hypoglycemia OMIM:616095
Al Amyloidosis
Renal insufficiency, Howell-Jolly bodies, Proteinuria, Xerostomia, Weight loss, Nephrotic syndrom... ORPHA:85443
15Q14 Microdeletion Syndrome
Deeply set eye ORPHA:261190
Agel Amyloidosis
Proteinuria, Stage 5 chronic kidney disease, Abnormal spleen morphology, Nail dystrophy, Sparse hair ORPHA:85448
Lenz-Majewski Hyperostotic Dwarfism
Mandibular prognathia, Abnormal dental enamel morphology, High, narrow palate, Submucous cleft ha... ORPHA:2658
Steinert Myotonic Dystrophy
Endometrial carcinoma, Alopecia, Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased res... ORPHA:273
Papillon-Lefèvre Syndrome
Abnormal fingernail morphology, Nail dystrophy, Abnormality of the nail, Sparse body hair, Genera... ORPHA:678
3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Myoglobinuria, Dicarboxylic aciduria, Hypoglycemic seizures, Hypoketotic hypoglycemia OMIM:231530
Juvenile Huntington Disease
Weight loss ORPHA:248111
S-Adenosylhomocysteine Hydrolase Deficiency
Failure to thrive, Abnormality of hair texture ORPHA:88618
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Brittle hair, Hypoglycemia, Lacticaciduria, Tubulointerstitial nephritis, Aminoaciduria, Recurren... OMIM:124000
Benign Recurrent Intrahepatic Cholestasis
Cholelithiasis, Pancreatitis, Weight loss ORPHA:65682
Chromosome 1P36 Deletion Syndrome, Distal
Abnormal external genitalia, Hypospadias, Hypertelorism, Ectopic kidney, Cryptorchidism, Synophry... OMIM:607872
Cholestasis, Progressive Familial Intrahepatic, 5
Failure to thrive, Hypoglycemia OMIM:617049
16P11.2P12.2 Microdeletion Syndrome
Deeply set eye, Hypotelorism ORPHA:261211
Fanconi-Bickel Syndrome
Hyperphosphaturia, Ketonuria, Proteinuria, Hypercalciuria, Generalized aminoaciduria, Renal tubul... OMIM:227810
Infantile Liver Failure Syndrome 2
Hypoglycemia OMIM:616483
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Acute myeloid leukemia, Neutrophilia, Eosinophilia, Splenomegaly, Leukocytosis... ORPHA:98849
Stromme Syndrome
Accessory spleen, Hypertelorism, Bilateral renal hypoplasia, Deeply set eye, Hydronephrosis OMIM:243605
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2
Sparse hair, Proptosis, Decreased body weight OMIM:615349
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Primary amenorrhea, Secondary am... OMIM:157640
Thymic Carcinoma
Neoplasm of the thymus, Weight loss, Hyperhidrosis ORPHA:99868
Intellectual Developmental Disorder, Autosomal Dominant 45
Slender build, Neonatal hypoglycemia OMIM:617600
Ectodermal Dysplasia-Skin Fragility Syndrome
Urethral stricture, Hypohidrosis, Anoperineal fistula, Nail dystrophy, Sparse hair, Failure to th... ORPHA:158668
X-Linked Intellectual Disability, Golabi-Ito-Hall Type
Dry hair, Brittle hair, Nail dystrophy ORPHA:93947
Neuroendocrine Tumor Of Stomach
Increased circulating ACTH level, Weight loss, Iron deficiency anemia, Paraganglioma, Atypical pu... ORPHA:100075
Exudative Vitreoretinopathy 2, X-Linked
Deeply set eye OMIM:305390
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Alopecia, Hydroureter, Cryptorchidism, Loss of eyelashes, Abnormal circulating calcium-phosphate ... ORPHA:2636
Costello Syndrome
Deep-set nails, Curly hair, Renal insufficiency, Hypoglycemia, Thin nail, Concave nail, Hypertelo... OMIM:218040
Tempi Syndrome
Increased hematocrit, Polycythemia ORPHA:284227
Orofaciodigital Syndrome Type 1
Alopecia, Brittle hair, Multicystic kidney dysplasia, Renal insufficiency, Proteinuria, Hypertelo... ORPHA:2750
Acrodermatitis Enteropathica
Ridged nail, Abnormal eyebrow morphology, Alopecia, Paronychia, Weight loss, Ridged fingernail, F... ORPHA:37
Menkes Disease
Hypopigmentation of hair, Hypoglycemia, Bladder diverticulum, Sparse hair, Woolly hair ORPHA:565
Congenital Disorder Of Glycosylation, Type Iia
Hirsutism, Long eyelashes, Sparse hair, Failure to thrive, Thick eyebrow OMIM:212066
Mitochondrial Trifunctional Protein Deficiency 1
Myoglobinuria, Failure to thrive, Small for gestational age, Hypoketotic hypoglycemia OMIM:609015
Pituitary Adenoma 4, Acth-Secreting
Skeletal muscle atrophy, Abdominal obesity, Obesity OMIM:219090
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome
Cachexia ORPHA:3217
Eosinophilic Gastroenteritis
Leukocytosis, Eosinophilia, Anemia, Weight loss ORPHA:2070
Leprosy
Absent eyebrow, Alopecia, Abnormality of the spleen, Loss of eyelashes, Testicular mass, Hypohidr... ORPHA:548
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Failure to thrive, Severe B lymphocytopenia, Biliary hyperplasia, Cryptorchidism, Coarse hair, B ... ORPHA:83617
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Hydroureter, Hypospadias, Hypertelorism, Asplenia, Deeply set eye, Bicornuate uterus, Annular pan... OMIM:265380
Pfapa Syndrome
Splenomegaly, Weight loss ORPHA:42642
Marden-Walker Syndrome
Micrognathia, Pyloric stenosis, Submucous cleft hard palate, Cleft palate, Attention deficit hype... ORPHA:2461
Renpenning Syndrome 1
Brittle hair, Hypospadias, Phimosis, Renal hypoplasia, Sparse hair, Decreased testicular size, Sp... OMIM:309500
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome
Sparse scalp hair, Renal insufficiency, Sparse eyelashes, Proteinuria, Hypertelorism, Sparse eyeb... OMIM:614748
Acth-Independent Macronodular Adrenal Hyperplasia 2
Abdominal obesity, Increased body weight OMIM:615954
Peritoneal Cystic Mesothelioma
Menorrhagia, Dyspareunia, Metrorrhagia, Weight loss ORPHA:168816
Chondrodysplasia Punctata, Autosomal Dominant
Sparse hair, Coarse hair OMIM:118650
Liver Disease, Severe Congenital
Dry hair, Failure to thrive, Hypospadias, Biliary hyperplasia, Thrombocytopenia, Splenomegaly, Ab... OMIM:619991
Diamond-Blackfan Anemia
Cleft soft palate, Micrognathia, Cleft lip, Low anterior hairline, High palate, Adenocarcinoma of... ORPHA:124
Restrictive Dermopathy 1
Natal tooth, Sparse eyelashes, Short nail, Micrognathia, Absent eyelashes, Sparse eyebrow, Submuc... OMIM:275210
3-Methylglutaconic Aciduria, Type Viib
Thrombocytopenia, Leukopenia, 3-Methylglutaconic aciduria, Neutropenia, Neonatal hypoglycemia OMIM:616271
Tropical Pancreatitis
Pancreatic adenocarcinoma, Maternal diabetes, Insulin-dependent but ketosis-resistant diabetes, W... ORPHA:103918
Loeys-Dietz Syndrome 4
Deeply set eye, Hypertelorism OMIM:614816
Isolated Permanent Neonatal Diabetes Mellitus
Failure to thrive, Ketonuria, Neonatal insulin-dependent diabetes mellitus, Weight loss, Renal tu... ORPHA:99885
Osteogenesis Imperfecta, Type Xx
Sparse hair, Highly arched eyebrow, Sparse lateral eyebrow OMIM:618644
Felty Syndrome
Splenomegaly, Weight loss, Anemia, Neutropenia, Abnormal lymphocyte morphology, Thrombocytopenia ORPHA:47612
Mitochondrial Trifunctional Protein Deficiency 2
Myoglobinuria, Hypoglycemia, Recurrent myoglobinuria OMIM:620300
Xeroderma Pigmentosum-Cockayne Syndrome Complex
Cachexia ORPHA:220295
Primary Fanconi Renotubular Syndrome
Hypoglycemia, Increased urinary potassium, Chronic kidney disease, Bicarbonaturia, Bicarbonate-wa... ORPHA:3337
Glycogen Storage Disease Ic
Renal insufficiency, Proteinuria, Cyclic neutropenia, Hypoglycemia, Chronic pancreatitis, Hematur... OMIM:232240
Carnitine Palmitoyltransferase I Deficiency
Renal tubular acidosis, Dicarboxylic aciduria, Hypoketotic hypoglycemia OMIM:255120
Menke-Hennekam Syndrome 1
Cryptorchidism, Deeply set eye, Long eyelashes, Sparse hair, Thick eyebrow OMIM:618332
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Woolly hair OMIM:610193
Giant Cell Arteritis
Renal insufficiency, Alopecia, Hyperhidrosis, Hematuria, Weight loss, Diabetes insipidus ORPHA:397
Alagille Syndrome 1
Hypertelorism, Multiple small medullary renal cysts, Renal hypoplasia, Stage 5 chronic kidney dis... OMIM:118450
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To
Elevated urinary 3-hydroxybutyric acid, Ketonuria, Hypoglycemia, Lacticaciduria, Elevated urine a... OMIM:615751
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Median cleft lip, Accessory oral frenulum, Supernumerary tooth, Aplasia of the epiglottis, Hypodo... OMIM:617088
Ulnar-Mammary Syndrome
Ectopic posterior pituitary, Small scrotum, Anterior pituitary hypoplasia, Sparse axillary hair, ... OMIM:181450
Marfanoid-Progeroid-Lipodystrophy Syndrome
Deeply set eye, Proptosis OMIM:616914
Mucopolysaccharidosis, Type Vii
Heparan sulfate excretion in urine, Splenomegaly, Hirsutism, Dermatan sulfate excretion in urine,... OMIM:253220
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Hypoketotic hypoglycemia OMIM:600649
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
External genital hypoplasia, Large for gestational age, Cryptorchidism, Hepatosplenomegaly, Deepl... ORPHA:96334
Ahdc1-Related Intellectual Disability-Obstructive Sleep Apnea-Mild Dysmorphism Syndrome
Deeply set eye, Failure to thrive, Hypertelorism ORPHA:412069
Oculodentodigital Dysplasia
Dry hair, Neurogenic bladder, Slow-growing hair, Fine hair, Sparse hair, Fragile nails OMIM:164200
Wars2-Related Combined Oxidative Phosphorylation Defect
Neonatal hypoglycemia, Thrombocytopenia, Hypertelorism ORPHA:572798
Classic Hodgkin Lymphoma
Splenomegaly, Weight loss, Hyperhidrosis ORPHA:391
Isolated Succinate-Coq Reductase Deficiency
Vesicoureteral reflux, Weight loss ORPHA:3208
Distal 22Q11.2 Microdeletion Syndrome
Deeply set eye, Absent fingernail, Highly arched eyebrow, Absent toenail ORPHA:261330
Acquired Central Diabetes Insipidus
Pollakisuria, Diabetes insipidus, Weight loss ORPHA:95626
Marburg Hemorrhagic Fever
Lymphopenia, Reticulocytosis, Renal insufficiency, Hypoglycemia, Orchitis, Neutrophilia in presen... ORPHA:99826
Lmna-Related Cardiocutaneous Progeria Syndrome
Absent eyebrow, Absent eyelashes, Pulmonary carcinoid tumor, Premature graying of hair, Sparse ha... ORPHA:363618
Drug Reaction With Eosinophilia And Systemic Symptoms
Renal insufficiency, Eosinophilia, Thyroiditis, Weight loss, Tubulointerstitial nephritis, Nephro... ORPHA:139402
Goldberg-Shprintzen Syndrome
Highly arched eyebrow, Synophrys, Vesicoureteral reflux, Sparse hair, Thick eyebrow OMIM:609460
Von Hippel-Lindau Syndrome
Papillary cystadenoma of the epididymis, Epididymal cyst OMIM:193300
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Cryptorchidism, Renal hypoplasia, Renal cyst... OMIM:210710
Eosinophilic Fasciitis
Abnormal eosinophil morphology, Eosinophilia, Weight loss ORPHA:3165
Cranioectodermal Dysplasia 1
Slow-growing hair, Short nail, Thin nail, Renal magnesium wasting, Chronic kidney disease, Stage ... OMIM:218330
Inflammatory Pseudotumor Of The Liver
Diabetes mellitus, Weight loss ORPHA:90003
Focal Dermal Hypoplasia
Ridged nail, Ureteral duplication, Brittle hair, Supernumerary nipple, Cryptorchidism, Horseshoe ... OMIM:305600
Pleural Mesothelioma
Weight loss ORPHA:50251
Geroderma Osteodysplasticum
Deeply set eye, Hypertelorism OMIM:231070
Glass Syndrome
Sparse hair, Long eyelashes, Nail dysplasia OMIM:612313
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Absent eyebrow, Alopecia, Thin fingernail, Hydroureter, Abnormal eyelash morphology, Abnormal hai... ORPHA:2273
Fructose-1,6-Bisphosphatase Deficiency
Increased urinary glycerol, Hypoglycemia OMIM:229700
Mowat-Wilson Syndrome
Bifid scrotum, Hypospadias, Supernumerary nipple, Hypertelorism, Cryptorchidism, Deeply set eye, ... OMIM:235730
Viss Syndrome
Microretrognathia, Sparse scalp hair, Alopecia, Chronic gastritis, Duodenitis, Intestinal malrota... OMIM:619472
Argininosuccinic Aciduria
Dry hair, Brittle hair, Aminoaciduria, Oroticaciduria, Trichorrhexis nodosa OMIM:207900
Mitochondrial Complex Iv Deficiency, Nuclear Type 23
Hypoglycemia OMIM:620275
Vascular Ehlers-Danlos Syndrome
Alopecia, Hypospadias, Abnormality of hair texture, Hypertelorism, Abnormal eyelash morphology, C... ORPHA:286
Thauvin-Robinet-Faivre Syndrome
Transient neutropenia, Hypertelorism, Large for gestational age, Renal cyst, Deeply set eye, Bifi... OMIM:617107
Sarcoidosis
Increased T cell count, Nephrocalcinosis, Leukopenia, Tubulointerstitial nephritis, Hypothyroidis... ORPHA:797
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects
Highly arched eyebrow, Synophrys, Low anterior hairline, Hypotelorism, Deeply set eye, Hirsutism OMIM:301044
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Nonketotic hypoglycemia, Dicarboxylic aciduria, Exercise-induced myoglobinuria OMIM:201475
Neuroendocrine Tumor Of The Colon
Increased serum serotonin, Carcinoid tumor, Atypical pulmonary carcinoid tumor, Weight loss ORPHA:100080
Joubert Syndrome 39
Overweight, Joint contracture of the 5th finger, Postaxial polydactyly OMIM:619562
8Q24.3 Microdeletion Syndrome
Ectopic posterior pituitary, Small for gestational age, Highly arched eyebrow, Unilateral renal a... ORPHA:508488
Mucolipidosis Ii Alpha/Beta
Brittle hair, Hypertelorism, Sparse eyebrow, Splenomegaly, Mucopolysacchariduria, Sparse hair, Fa... OMIM:252500
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Bifid scrotum, Multicystic kidney dysplasia, Failure to thrive, Hypospadias, Urinary incontinence... ORPHA:261537
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly
Hypothyroidism, Dry hair, Low anterior hairline OMIM:618569
Granulomatosis With Polyangiitis
Renal insufficiency, Ureteral stenosis, Proteinuria, Pancreatitis, Prostatitis, Weight loss, Hema... ORPHA:900
Stevens-Johnson Syndrome
Dyspareunia, Renal insufficiency, Dysuria, Abnormality of neutrophils, Abnormality of the urethra... ORPHA:36426
Alveolar Echinococcosis
Eosinophilia, Pancreatic cysts, Renal cyst, Weight loss, Abnormal spleen morphology, Abnormal adr... ORPHA:284
17Q11 Microdeletion Syndrome
Hypertelorism, Precocious puberty, Renovascular hypertension, Glomus jugular tumor, Deeply set ey... ORPHA:97685
Brucellosis
Small for gestational age, Glomerulonephritis, Hypersplenism, Thrombocytopenia, Leukocytosis, Spl... ORPHA:1304
Immunodeficiency 31C
Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Diabetes... OMIM:614162
Chronic Graft Versus Host Disease
Alopecia, Pancytopenia, Phimosis, Urinary bladder inflammation, Xerostomia, Weight loss, Hematuri... ORPHA:99921
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Multicystic kidney dysplasia, Transient neutropenia, Chronic neutropenia, Hypertelorism, Large fo... ORPHA:500095
Cartilage-Hair Hypoplasia
Sparse eyebrow, Mucopolysacchariduria, Neutropenia, Sparse hair, Failure to thrive, Anemia ORPHA:175
Mowat-Wilson Syndrome
Bifid scrotum, Multicystic kidney dysplasia, Hypospadias, Urinary incontinence, Septate vagina, H... ORPHA:2152
Igg4-Related Kidney Disease
Sterile pyuria, Tubulointerstitial nephritis, Abnormal ureter morphology, Sialadenitis, Nephrotic... ORPHA:449395
Monosomy 22Q13.3
Hypoplastic toenails, Obesity, Hypohidrosis, Deeply set eye, Long eyelashes, Vesicoureteral reflu... ORPHA:48652
Mandibuloacral Dysplasia Progeroid Syndrome
Proteinuria, Elevated hemoglobin A1c, Sparse eyebrow, Focal segmental glomerulosclerosis, Proptos... OMIM:619127
Carnitine-Acylcarnitine Translocase Deficiency
Dicarboxylic aciduria, Oliguria, Fasting hypoglycemia, Hypoketotic hypoglycemia ORPHA:159
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Abdominal obesity, Increased body weight, Proximal amyotrophy ORPHA:189427
Stickler Syndrome
Proptosis, Slender build, Cachexia, Hypertelorism ORPHA:828
Huntington Disease-Like 1
Weight loss ORPHA:157941
Kid Syndrome
Sparse eyelashes, Sparse eyebrow, Scarring alopecia of scalp, Hypohidrosis, Trichilemmoma, Nail d... ORPHA:477
Hutchinson-Gilford Progeria Syndrome
Absent eyebrow, Female hypogonadism, Alopecia totalis, Decreased serum leptin, Insulin resistance... ORPHA:740
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Weight loss, Iron deficiency anemia, Lymphocytosis, Anoperineal fistula, Thrombocytosis, Reduced ... OMIM:301074
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Overweight, Small for gestational age, Obesity, Hypoketotic hypoglycemia ORPHA:26793
Secondary Short Bowel Syndrome
Weight loss, Failure to thrive, Primary hypothyroidism, Central hypothyroidism ORPHA:95427
Lipodystrophy, Familial Partial, Type 7
Sparse scalp hair, Small for gestational age, Polyuria, Impaired glucose tolerance, Insulin resis... OMIM:606721
Hardikar Syndrome
Cleft soft palate, Intestinal malrotation, Celiac disease, Esophageal varix, Bilateral cleft lip ... OMIM:301068
3Q27.3 Microdeletion Syndrome
Deeply set eye ORPHA:397695
Systemic Capillary Leak Syndrome
Renal insufficiency, Leukocytosis, Oliguria, Weight loss, Pancreatitis ORPHA:188
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Myoglobinuria, Red-brown urine, Hypoketotic hypoglycemia ORPHA:228305
Chronic Beryllium Disease
Abnormal proportion of CD4-positive T cells, Weight loss ORPHA:133
Kaposi Sarcoma
Abnormality of the spleen, Weight loss ORPHA:33276
Restrictive Dermopathy
Ureteral duplication, Hypospadias, Short nail, Hypertelorism, Aplasia/Hypoplastia of the eccrine ... ORPHA:1662
Carnitine Palmitoyltransferase Ii Deficiency
Red-brown urine, Stage 5 chronic kidney disease, Renal tubular epithelial necrosis, Tubulointerst... ORPHA:157
Neuroendocrine Tumor Of The Rectum
Increased serum serotonin, Carcinoid tumor, Atypical pulmonary carcinoid tumor, Weight loss ORPHA:100081
Neuroendocrine Tumor Of Anal Canal
Increased serum serotonin, Carcinoid tumor, Atypical pulmonary carcinoid tumor, Weight loss ORPHA:100082
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2
Cleft soft palate OMIM:614557
Pettigrew Syndrome
Deeply set eye OMIM:304340
Ileal Neuroendocrine Tumor
Weight loss, Iron deficiency anemia, Small intestine carcinoid, Increased serum serotonin, Hydron... ORPHA:100078
Wrinkly Skin Syndrome
Short nail, Hypertelorism, Cryptorchidism, Sparse hair, Failure to thrive, Fragile nails OMIM:278250
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Anemia, Weight loss ORPHA:324964
Neuroocular Syndrome
Brittle hair, Highly arched eyebrow, Synophrys, Short uvula, Submucous cleft hard palate, Retrogn... OMIM:619539
Cryptogenic Organizing Pneumonia
Leukocytosis, Neutrophilia, Weight loss ORPHA:1302
Pyruvate Carboxylase Deficiency
Hyperglycemia, Failure to thrive, Hypoglycemia, Lacticaciduria ORPHA:3008
Hermansky-Pudlak Syndrome
Renal insufficiency, Hypopigmentation of hair, Menometrorrhagia, Weight loss, Long eyelashes, Neu... ORPHA:79430
Holoprosencephaly 2
Aplasia of the premaxilla, Submucous cleft hard palate, Bilateral cleft lip and palate, Solitary ... OMIM:157170
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Bifid scrotum, Multicystic kidney dysplasia, Failure to thrive, Hypospadias, Urinary incontinence... ORPHA:261552
Renal Cysts And Diabetes Syndrome
Hypospadias, Hypoplasia of the uterus, Bicornuate uterus, Epididymal cyst, Atretic vas deferens OMIM:137920
Ménétrier Disease
Hypochromic microcytic anemia, Weight loss ORPHA:2494
Castleman Disease
Renal insufficiency, Weight loss, Anemia, Decreased mean corpuscular volume, Hematuria, Ureteral ... ORPHA:160
Developmental And Epileptic Encephalopathy 2
Deeply set eye OMIM:300672
Osteootohepatoenteric Syndrome
Proteinuria, Grade II vesicoureteral reflux, Weight loss, Failure to thrive, Anemia OMIM:619377
Cranioectodermal Dysplasia 2
Renal insufficiency, Sparse eyelashes, Hypertelorism, Sparse eyebrow, Splenomegaly, Renal cyst, B... OMIM:613610
Campomelic Dysplasia
Irregular dentition, Short nail, Micrognathia, Carious teeth, Submucous cleft hard palate, Cleft ... OMIM:114290
Polymicrogyria With Or Without Vascular-Type Ehlers-Danlos Syndrome
Deeply set eye OMIM:618343
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Highly arched eyebrow, Hypertelorism, Frontal balding, Synophrys, Hypotelorism, Deeply set eye, T... OMIM:612474
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Renal insufficiency, Dicarboxylic aciduria, Red-brown urine, Renal tubular epithelial necrosis, T... ORPHA:228308
Primary Intestinal Lymphangiectasia
Weight loss, Decreased proportion of CD3-positive T cells, Lymphopenia, Reduced proportion of CD4... ORPHA:90362
Marfan Syndrome
Slender build, Cachexia ORPHA:558
Igg4-Related Aortitis
Hypereosinophilia, Hydronephrosis, Weight loss ORPHA:449400
Mucolipidosis Type Ii
Dry hair, Splenomegaly, White hair, Hepatosplenomegaly, Fine hair, Weight loss, Shallow orbits ORPHA:576
Idiopathic Chronic Eosinophilic Pneumonia
Leukocytosis, Hypereosinophilia, Weight loss ORPHA:2902
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Recurrent hypoglycemia, Failure to thrive, Hypoglycemia OMIM:256810
Pseudomyxoma Peritonei
Weight loss ORPHA:26790
Yao Syndrome
Xerostomia, Nephrolithiasis, Weight loss OMIM:617321
Malt Lymphoma
Abnormality of the thyroid gland, Weight loss, Anemia, Hyperhidrosis ORPHA:52417
Coffin-Lowry Syndrome
Highly arched eyebrow, Hypertelorism, Hyperconvex fingernails, Coarse hair, Decreased body weight... OMIM:303600
Perry Syndrome
Weight loss ORPHA:178509
Wild Type Attr Amyloidosis
Renal insufficiency, Proteinuria, Weight loss, Nephrotic syndrome, Nephropathy ORPHA:330001
Lacrimoauriculodentodigital Syndrome 1
Absence of Stensen duct, Delayed eruption of primary teeth, Carious teeth, Xerostomia, Conical in... OMIM:149730
Sotos Syndrome
Ureteral duplication, Renal insufficiency, Hypospadias, Phimosis, Sparse anterior scalp hair, Cry... ORPHA:821
Thyrotoxic Periodic Paralysis
Hyperthyroidism, Thyrotoxicosis with toxic single thyroid nodule, Decreased urinary potassium, Th... ORPHA:79102
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Curly hair, Absent gallbladder, Failure to thrive in infancy, Unilateral renal agenesis, Sparse e... ORPHA:500150
Wrinkly Skin Syndrome
Sparse hair, Cryptorchidism, Failure to thrive, Hypertelorism ORPHA:2834
Inflammatory Bowel Disease (Crohn Disease) 1
Weight loss OMIM:266600
Branchiooculofacial Syndrome
Hypospadias, Supernumerary nipple, Hypertelorism, Cryptorchidism, Renal cyst, Low posterior hairl... OMIM:113620
Retinitis Pigmentosa 74
Polydactyly, Obesity OMIM:616562
Melnick-Needles Syndrome
Ureteral stenosis, Hypertelorism, Coarse hair, Proptosis, Frontal hirsutism, Failure to thrive, H... OMIM:309350
Neurodevelopmental Disorder With Hypotonia, Craniofacial Abnormalities, And Seizures
Small for gestational age, Hypoglycemia OMIM:614501
Pruritic Urticarial Papules And Plaques Of Pregnancy
Increased body weight ORPHA:64745
Kikuchi-Fujimoto Disease
Alopecia, Splenomegaly, Weight loss, Anemia, Leukopenia, Enlargement of parotid gland, Lymphocyto... ORPHA:50918
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type
Micrognathia, Submucous cleft hard palate, Bifid uvula, Retrognathia, Neoplasm of the tongue ORPHA:3047
Focal Myositis
Weight loss ORPHA:48918
Bardet-Biedl Syndrome 12
Postaxial foot polydactyly, Postaxial hand polydactyly, Polydactyly, Obesity OMIM:615989
Mucopolysaccharidosis Type 3
Thick hair, Heparan sulfate excretion in urine, Splenomegaly, Synophrys, Coarse hair, Mucopolysac... ORPHA:581
Magel2-Related Prader-Willi-Like Syndrome
Flexion contracture, Small hand, Increased body weight, Short foot, Abdominal obesity, Failure to... ORPHA:398069
Primary Hepatic Neuroendocrine Carcinoma
Weight loss, Carcinoid tumor, Increased serum serotonin, Neuroendocrine neoplasm ORPHA:100085
Congenital Disorder Of Glycosylation, Type Iiw
Supernumerary tooth, Ankyloglossia, Micrognathia OMIM:619525
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Failure to thrive, Hypoglycemia, 4-hydroxyphenylacetic aciduria, 4-Hydroxyphenylpyruvic aciduria OMIM:617156
Autosomal Recessive Malignant Osteopetrosis
Splenomegaly, Anemia, Abnormality of hair texture ORPHA:667
Igg4-Related Dacryoadenitis And Sialadenitis
Enlarged lacrimal glands, Thyroiditis, Xerostomia, Weight loss, Enlargement of parotid gland, Tub... ORPHA:79078
Cerebral Visual Impairment
Neonatal hypoglycemia ORPHA:447788
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Deeply set eye OMIM:614643
Glucose-Galactose Malabsorption
Renal insufficiency, Nephrolithiasis, Weight loss, Hematuria, Failure to thrive ORPHA:35710
Fructose Intolerance, Hereditary
Transient aminoaciduria, Hyperphosphaturia, Hypoglycemia, Bicarbonaturia, Proximal renal tubular ... OMIM:229600
Hypoplasminogenemia
Cervicitis, Abnormality of the ovary, Nephrolithiasis, Abnormal fallopian tube morphology ORPHA:722
African Trypanosomiasis
Alopecia, Renal insufficiency, Urinary incontinence, Abnormality of the menstrual cycle, Abnormal... ORPHA:3385
Aicardi-Goutieres Syndrome 7
Hemolytic anemia, Pancytopenia, Splenomegaly, Weight loss, Anemia, Nephrotic syndrome, Hypothyroi... OMIM:615846
Loeffler Endocarditis
Eosinophilia, Weight loss ORPHA:75566
Eosinophilic Granulomatosis With Polyangiitis
Renal insufficiency, Proteinuria, Eosinophilia, Weight loss, Hematuria, Tubulointerstitial nephritis ORPHA:183
Autosomal Dominant Epidermolytic Ichthyosis
Weight loss ORPHA:312
Inflammatory Bowel Disease 11
Weight loss OMIM:191390
Pigmented Nodular Adrenocortical Disease, Primary, 4
Increased body weight OMIM:615830
Tropical Endomyocardial Fibrosis
Splenomegaly, Proptosis, Eosinophilia, Cachexia ORPHA:75565
Glutaryl-Coa Dehydrogenase Deficiency
Glutaric aciduria, Chronic kidney disease, Fasting hypoglycemia ORPHA:25
Primary Sclerosing Cholangitis
Renal insufficiency, Abnormal eosinophil morphology, Splenomegaly, Thyroiditis, Hepatosplenomegal... ORPHA:171
Fatal Familial Insomnia
Weight loss, Urinary retention, Hyperhidrosis OMIM:600072
Subcutaneous Panniculitis-Like T-Cell Lymphoma
Weight loss, Hemophagocytosis, Hepatosplenomegaly ORPHA:86884
Amoebiasis Due To Entamoeba Histolytica
Leukocytosis, Anemia, Weight loss ORPHA:67
Osteosarcoma
Weight loss ORPHA:668
Pulmonary Alveolar Microlithiasis
Calcium nephrolithiasis, Decreased fertility, Weight loss, Gonadal calcification, Hematuria, Test... ORPHA:60025
Pallister-Killian Syndrome
Sparse scalp hair, Alopecia, Small scrotum, Sparse eyelashes, Hypospadias, Supernumerary nipple, ... OMIM:601803
Pmm2-Cdg
Hypogonadotropic hypogonadism, Proteinuria, Elevated circulating growth hormone concentration, Hy... ORPHA:79318
Caroli Disease
Splenomegaly, Leukocytosis, Weight loss, Polycystic kidney dysplasia, Cholelithiasis ORPHA:53035
Pneumocystosis
Weight loss, Abnormal neutrophil count ORPHA:723
Simple Cryoglobulinemia
Renal insufficiency, Membranoproliferative glomerulonephritis, Proteinuria, Chronic lymphatic leu... ORPHA:91139
Familial Thrombocytosis
Acute myeloid leukemia, Splenomegaly, Chronic myelogenous leukemia, Hyperhidrosis, Weight loss, T... ORPHA:71493
Biliary, Renal, Neurologic, And Skeletal Syndrome
Dark urine, Renal insufficiency, Failure to thrive, Anterior pituitary hypoplasia, Hypertelorism,... OMIM:619534
Polyarteritis Nodosa
Weight loss ORPHA:767
Classic Pantothenate Kinase-Associated Neurodegeneration
Weight loss ORPHA:216866
Nephroblastoma
Hematuria, Weight loss ORPHA:654
Cap Polyposis
Weight loss ORPHA:160148
Acute Liver Failure
Acute kidney injury, Adrenal insufficiency, Thrombocytopenia, Hypoglycemia ORPHA:90062
Neurocardiofaciodigital Syndrome
Small for gestational age, Sparse eyebrow, Vesicoureteral reflux, Sparse hair, Failure to thrive OMIM:619869
Pulmonary Non-Tuberculous Mycobacterial Infection
Weight loss ORPHA:411703
Congenital Enterocyte Heparan Sulfate Deficiency
Weight loss ORPHA:103910
Multiple Myeloma
Splenomegaly, Weight loss, Nephrotic syndrome, Nephropathy, Acute kidney injury, Anemia ORPHA:29073
Q Fever
Splenomegaly, Hepatosplenomegaly, Hematuria, Anemia, Weight loss, Thrombocytopenia ORPHA:781
Rat-Bite Fever
Parotitis, Pancreatitis, Anemia, Weight loss ORPHA:31205
Hereditary Fructose Intolerance
Episodic hyperhidrosis, Renal insufficiency, Chronic kidney disease, Reactive hypoglycemia ORPHA:469
Malignant Peritoneal Mesothelioma
Weight loss ORPHA:168811
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Weight loss ORPHA:79127
3-Methylglutaconic Aciduria, Type Viii
3-Methylglutaric aciduria, 3-Methylglutaconic aciduria, Neutropenia, Failure to thrive, Neonatal ... OMIM:617248
Occipital Horn Syndrome
Ureteral obstruction, Bladder diverticulum, Coarse hair, Pili torti, Hydronephrosis OMIM:304150
Liposarcoma
Weight loss ORPHA:69078
1P21.3 Microdeletion Syndrome
Deeply set eye, Obesity ORPHA:293948
Von Hippel-Lindau Disease
Papillary cystadenoma of the epididymis, Epididymal cyst ORPHA:892
Perry Syndrome
Weight loss OMIM:168605
Juvenile Dermatomyositis
Alopecia, Weight loss ORPHA:93672
Postinfectious Vasculitis
Membranoproliferative glomerulonephritis, Proteinuria, Glomerulonephritis, Orchitis, Weight loss,... ORPHA:48435
Lymphoid Interstitial Pneumonia
Failure to thrive, Enlarged kidney, Weight loss ORPHA:79128
Polymyositis
Weight loss ORPHA:732
Congenital Tufting Enteropathy
Failure to thrive, Weight loss ORPHA:92050
Nodular Non-Suppurative Panniculitis
Splenomegaly, Weight loss ORPHA:33577
Oromandibular Dystonia
Weight loss ORPHA:93958
Behçet Disease
Renal insufficiency, Orchitis, Splenomegaly, Weight loss, Pancreatitis ORPHA:117
Carney-Stratakis Syndrome
Paraganglioma, Weight loss ORPHA:97286
Intellectual Developmental Disorder, Autosomal Dominant 38
Deeply set eye OMIM:616393
Immunodeficiency 82 With Systemic Inflammation
Decreased proportion of naive T cells, Splenomegaly, Weight loss, T lymphocytopenia, B lymphocyto... OMIM:619381
Rheumatoid Arthritis
Weight loss OMIM:180300
Cushing Disease
Truncal obesity, Abdominal obesity, Increased body weight, Proximal amyotrophy ORPHA:96253
Budd-Chiari Syndrome
Splenomegaly, Weight loss ORPHA:131
Pancreatic Triacylglycerol Lipase Deficiency
Iron deficiency anemia, Weight loss, Exocrine pancreatic insufficiency ORPHA:309031
Marfan Syndrome
Deeply set eye OMIM:154700
Pemphigus Vulgaris
Weight loss ORPHA:704
Polycythemia Vera
Splenomegaly, Weight loss, Acute leukemia ORPHA:729
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability
Curly hair, Abnormal circulating thyroid hormone concentration, Cyst of the ductus choledochus, H... ORPHA:480880
Occipital Horn Syndrome
Bladder diverticulum, Coarse hair, Thick hair ORPHA:198
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis
Weight loss, Anemia, Hepatosplenomegaly ORPHA:85408
Dermatomyositis
Abnormal hair quantity, Abnormal eosinophil morphology, Abnormality of the nail, Weight loss ORPHA:221
Parkinson Disease 4, Autosomal Dominant
Weight loss OMIM:605543
Tubulointerstitial Nephritis And Uveitis Syndrome
Normocytic anemia, Sterile pyuria, Renal tubular epithelial necrosis, Beta 2-microglobulinuria, T... ORPHA:91500
Fibromuscular Dysplasia, Multifocal
Deeply set eye OMIM:619329
Glycogen Storage Disease Of Heart, Lethal Congenital
Neonatal hypoglycemia, Enlarged kidney OMIM:261740
Gallbladder Neuroendocrine Tumor
Neuroendocrine neoplasm, Weight loss ORPHA:100086
Pancreatoblastoma
Pancreatic calcification, Weight loss ORPHA:677
Granulomatosis With Polyangiitis
Granulomatosis, Weight loss OMIM:608710
Glossopharyngeal Neuralgia
Weight loss ORPHA:221098
Reactive Arthritis
Dystrophic fingernails, Abnormality of the nail, Weight loss ORPHA:29207
Sarcoidosis, Susceptibility To, 1
Pancytopenia, Splenomegaly, Enlarged lacrimal glands, Hypercalciuria, Weight loss, Abnormal saliv... OMIM:181000
Hereditary Late-Onset Parkinson Disease
Spastic/hyperactive bladder, Weight loss ORPHA:411602
Gerstmann-Straussler Disease
Weight loss OMIM:137440
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Weight loss OMIM:607459
Malignant Atrophic Papulosis
Weight loss ORPHA:679
Hellp Syndrome
Increased body weight ORPHA:244242
Riddle Syndrome
Weight loss, Enuresis nocturna ORPHA:420741
Autoimmune Pulmonary Alveolar Proteinosis
Weight loss ORPHA:747
Klatskin Tumor
Weight loss ORPHA:99978
Goodpasture Syndrome
Renal insufficiency, Proteinuria, Glomerulonephritis, Cylindruria, Weight loss, Macroscopic hemat... OMIM:233450
Nocardiosis
Abnormality of the adrenal glands, Thyroiditis, Weight loss ORPHA:31204
Congenital Fiber-Type Disproportion Myopathy
Failure to thrive, Weight loss ORPHA:2020
Choreoacanthocytosis
Abnormal erythrocyte enzyme level, Splenomegaly, Weight loss, Acanthocytosis ORPHA:2388
Oculopharyngodistal Myopathy 1
Weight loss OMIM:164310

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 Inhba

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 Inhba.

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

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Inhbatm1(NCOM)Mfgc Reporter-tagged deletion allele (with selection cassette) Targeting vectors, ES Cells
Inhbatm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Inhbatm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Inhbatm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells

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