Gene: Alk MGI:103305

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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:
anaplastic lymphoma kinase
Synonyms:
Tcrz,  CD246

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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 Alk mutations

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

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

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Neuroblastoma
ORPHA:635

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

Disease Similarity of
phenotypes
Matching phenotypes Source
X-Linked Intellectual Disability, Van Esch Type
Cryptorchidism, Male hypogonadism, Increased circulating gonadotropin level, Retractile testis, H... ORPHA:163976
Chromosome Xq27.3-Q28 Duplication Syndrome
Cryptorchidism, Increased circulating gonadotropin level, Decreased serum testosterone concentrat... OMIM:300869
Isolated Follicle Stimulating Hormone Deficiency
Male hypogonadism, Hyperplasia of the Leydig cells, Azoospermia, Bilateral breast hypoplasia, Oli... ORPHA:52901
Leptin Receptor Deficiency
Abnormal hypothalamus morphology, Hypergonadotropic hypogonadism, Pituitary hypothyroidism, Obesi... OMIM:614963
Pituicytoma
Abnormality of the pituitary gland, Amenorrhea, Pituicytoma, Pituitary hypothyroidism, Hypopituit... ORPHA:251623
X-Linked Intellectual Disability, Cilliers Type
Cryptorchidism, Male hypogonadism, Increased circulating gonadotropin level, Hypergonadotropic hy... ORPHA:163971
46,Xy Sex Reversal 11
Elevated circulating luteinizing hormone level, Urogenital sinus anomaly, Vanishing testis, Decre... OMIM:273250
Leydig Cell Hypoplasia
Cryptorchidism, Male hypogonadism, Abnormal internal genitalia, Secondary amenorrhea, Micropenis,... ORPHA:755
Hypogonadotropic Hypogonadism 25 With Anosmia
Cryptorchidism, Primary amenorrhea, Hypothalamic gonadotropin-releasing hormone deficiency, Decre... OMIM:618841
49,Xxxyy Syndrome
Ambiguous genitalia, Increased circulating gonadotropin level, Male hypogonadism, Eunuchoid habit... ORPHA:261534
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Cryptorchidism, Hypoplasia of the uterus, Decreased circulating gonadotropin concentration, Prima... OMIM:614841
Hypogonadotropic Hypogonadism 23 Without Anosmia
Androgen insufficiency, Ovarian cyst, Abnormality of the Leydig cells, Oligomenorrhea, Micropenis... OMIM:228300
Intellectual Developmental Disorder And Hypogonadotropic Hypogonadism
Cryptorchidism, Decreased circulating follicle stimulating hormone concentration, Hyperinsulinemi... OMIM:619326
Episodic Pain Syndrome, Familial, 3
Abnormal autonomic nervous system physiology OMIM:615552
Obesity Due To Congenital Leptin Deficiency
Decreased serum leptin, Hyperinsulinemia, Hypergonadotropic hypogonadism, Absence of secondary se... ORPHA:66628
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Infertility, Increased circulating gonadotropin level, Male hypogonadism, Abnormal vagina morphol... ORPHA:168563
Obesity Due To Leptin Receptor Gene Deficiency
Decreased serum leptin, Hyperinsulinemia, Hypergonadotropic hypogonadism, Absence of secondary se... ORPHA:179494
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Abnormal response to ACTH stimulation test, Abnormal circulating dehydroepiandrosterone concentra... ORPHA:90793
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Abnormal circulating dehydroepiandrosterone concentration, Cryptorchidism, Female external genita... ORPHA:90791
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Decreased serum testosterone concentration, Short stature, Failure to thrive, Decreased testicula... OMIM:201100
49,Xyyyy Syndrome
Male hypogonadism, Increased circulating gonadotropin level, Azoospermia, Abnormality of the test... ORPHA:99330
46,Xy Disorder Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Cryptorchidism, Delayed puberty, Female external genitalia in individual with 46,XY karyotype, De... ORPHA:90796
Polyendocrine-Polyneuropathy Syndrome
Decreased circulating follicle stimulating hormone concentration, Central hypothyroidism, Decreas... ORPHA:453533
Orthostatic Intolerance
Orthostatic tachycardia OMIM:604715
46,Xy Partial Gonadal Dysgenesis
Cryptorchidism, Abnormal internal genitalia, Delayed puberty, Female external genitalia in indivi... ORPHA:251510
Normosmic Congenital Hypogonadotropic Hypogonadism
Cryptorchidism, Male hypogonadism, Azoospermia, Eunuchoid habitus, Breast hypoplasia, Non-obstruc... ORPHA:432
Sim1-Related Prader-Willi-Like Syndrome
Cryptorchidism, Scrotal hypoplasia, Central hypothyroidism, Clitoral hypoplasia, Type II diabetes... ORPHA:398079
Dysautonomia-Like Disorder
Abnormal autonomic nervous system physiology OMIM:224000
Autosomal Recessive Spastic Paraplegia Type 26
Cerebral cortical atrophy, Decreased serum testosterone concentration, Hyperintensity of cerebral... ORPHA:101006
Central Precocious Puberty
Hypothalamic hamartoma, Increased circulating gonadotropin level, Proportionate short stature, Is... ORPHA:759
Testicular Agenesis
Urethrovaginal fistula, Ambiguous genitalia, Increased circulating gonadotropin level, Absent tes... ORPHA:325124
Precocious Puberty, Male-Limited
Decreased testicular size, Precocious puberty in males OMIM:176410
Hypogonadism, Male
Hypospadias, Testicular atrophy, Male hypogonadism, Micropenis OMIM:241100
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Cryptorchidism, Decreased circulating follicle stimulating hormone concentration, Azoospermia, Eu... OMIM:308700
Ane Syndrome
Abnormal response to ACTH stimulation test, Adrenocorticotropin deficient adrenal insufficiency, ... ORPHA:157954
Kallmann Syndrome With Spastic Paraplegia
Cryptorchidism, Decreased circulating follicle stimulating hormone concentration, Eunuchoid habit... OMIM:308750
Bone Marrow Failure Syndrome 5
Hypogonadism, Microcephaly, Testicular atrophy, Short stature OMIM:618165
Microduplication Xp11.22P11.23 Syndrome
Precocious puberty, Obesity ORPHA:217377
Craniopharyngioma
Abnormal hypothalamus morphology, Proportionate short stature, Enlarged pituitary gland, Growth d... ORPHA:54595
Hypersecretion Of Adrenal Androgens, Familial
Increased circulating androgen concentration, Adrenal overactivity, Premature pubarche, Amenorrhea OMIM:145295
Precocious Puberty, Central, 2
Premature thelarche, Premature pubarche OMIM:615346
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome
Elevated circulating luteinizing hormone level, Breast aplasia, Decreased serum testosterone conc... ORPHA:3044
Functioning Gonadotropic Adenoma
Pituitary hypothyroidism, Delayed puberty, Decreased female libido, Anterior hypopituitarism, Pit... ORPHA:91348
Epilepsy, Familial Focal, With Variable Foci 4
Abnormal autonomic nervous system physiology OMIM:617935
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Cryptorchidism, Infertility, Increased circulating gonadotropin level, Aplasia of the ovary, Brea... ORPHA:2232
Spermatogenic Failure 12
Infertility, Azoospermia, Abnormal male germ cell morphology OMIM:615413
Cortisone Reductase Deficiency 1
Oligomenorrhea, Infertility, Precocious puberty, Obesity OMIM:604931
Familial Male-Limited Precocious Puberty
Long penis, Oligospermia, Macroorchidism, Male infertility, Precocious puberty ORPHA:3000
Magel2-Related Prader-Willi-Like Syndrome
Cryptorchidism, Scrotal hypoplasia, Central hypothyroidism, Clitoral hypoplasia, Type II diabetes... ORPHA:398069
Leukoencephalopathy With Dystonia And Motor Neuropathy
Hypergonadotropic hypogonadism, Abnormality of thalamus morphology, Azoospermia, Leukoencephalopathy OMIM:613724
46,Xx Sex Reversal 2
Ovotestis, Azoospermia, Bifid scrotum, Sex reversal, Scrotal hypoplasia, Hypoplasia of the uterus... OMIM:278850
Non-Acquired Combined Pituitary Hormone Deficiency-Sensorineural Hearing Loss-Spine Abnormalities Syndrome
Gonadotropin deficiency, Hypothalamic luteinizing hormone-releasing hormone deficiency, Pituitary... ORPHA:231720
Cortisone Reductase Deficiency 2
Premature pubarche, Obesity OMIM:614662
Spermatogenic Failure, X-Linked, 2
Testicular atrophy, Male infertility, Azoospermia OMIM:309120
Aganglionosis, Total Intestinal
Total intestinal aganglionosis OMIM:202550
Gonadoblastoma
Ambiguous genitalia, Abnormality of the ovary, Dysgerminoma, Female external genitalia in individ... ORPHA:206484
Aarskog-Scott Syndrome
Cryptorchidism, Elevated circulating luteinizing hormone level, Mild short stature, Bilateral cry... OMIM:305400
Partial Chromosome Y Deletion
Cryptorchidism, Oligospermia, Non-obstructive azoospermia, Decreased testicular size, Male infert... ORPHA:1646
Progeria-Short Stature-Pigmented Nevi Syndrome
Abnormality of thalamus morphology, Hypergonadotropic hypogonadism, Microcephaly, Insulin-resista... ORPHA:2959
Testicular Regression Syndrome
Abnormal morphology of female internal genitalia, Ambiguous genitalia, Absent testis, Abnormality... ORPHA:983
Complete Androgen Insensitivity Syndrome
Abnormal morphology of female internal genitalia, Elevated circulating luteinizing hormone level,... ORPHA:99429
Panhypophysitis
Panhypopituitarism, Adrenocorticotropin deficient adrenal insufficiency, Amenorrhea, Decreased ci... ORPHA:95513
Adenohypophysitis
Panhypopituitarism, Adrenocorticotropin deficient adrenal insufficiency, Amenorrhea, Decreased ci... ORPHA:95512
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Increased urinary 11-deoxycorticosterone level, Decreased circulating renin level, Clitoral hyper... ORPHA:90795
Krabbe Disease, Atypical, Due To Saposin A Deficiency
Death in childhood, Respiratory failure, Central apnea, Respiratory insufficiency OMIM:611722
Spinocerebellar Ataxia 32
Infertility, Testicular atrophy, Azoospermia OMIM:613909
Partial Androgen Insensitivity Syndrome
Clitoral hypertrophy, Male infertility, Micropenis, Elevated circulating luteinizing hormone leve... ORPHA:90797
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Anterior hypopituitarism, Breast hypoplasia, Absence of secondary sex characteristics, Primary am... ORPHA:2235
Spinocerebellar Ataxia Type 32
Testicular atrophy, Male infertility, Azoospermia ORPHA:276183
Temple Syndrome
Cryptorchidism, Postnatal growth retardation, Obesity, Small for gestational age, Type II diabete... ORPHA:254516
Symptomatic Form Of Hemochromatosis Type 1
Infertility, Amenorrhea, Hypothyroidism, Erectile dysfunction, Weight loss, Testicular atrophy, D... ORPHA:465508
Spastic Paraplegia With Precocious Puberty
Precocious puberty OMIM:182820
Polyembryoma
Abnormality of the endocrine system, Irregular menstruation, Macroorchidism, Increased serum sero... ORPHA:180229
45,X/46,Xy Mixed Gonadal Dysgenesis
Cryptorchidism, Chordee, Abnormal internal genitalia, Delayed puberty, Epispadias, Male infertili... ORPHA:1772
Spastic Paraplegia-Precocious Puberty Syndrome
Hyperplasia of the Leydig cells, Precocious puberty in males ORPHA:2826
Woodhouse-Sakati Syndrome
Hyperinsulinemia, Micropenis, Hypothyroidism, Hypoplasia of the fallopian tube, Hypoplasia of the... ORPHA:3464
Pseudohypoaldosteronism, Type Iib
Hyperchloremia, Hyperkalemia OMIM:614491
Pseudohypoaldosteronism, Type Iid
Hyperchloremia, Hyperkalemia OMIM:614495
Meningioma
Decreased circulating ACTH level, Decreased circulating follicle stimulating hormone concentratio... ORPHA:2495
Adrenal Hypoplasia, Congenital
Cryptorchidism, Azoospermia, Adrenal hypoplasia, Oligospermia, Decreased circulating cortisol lev... OMIM:300200
Mitochondrial Complex I Deficiency, Nuclear Type 13
Apnea, Death in infancy OMIM:618235
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Cryptorchidism, Delayed puberty, Female external genitalia in individual with 46,XY karyotype, De... ORPHA:168558
Kennedy Disease
Erectile dysfunction, Testicular atrophy, Decreased fertility, Type II diabetes mellitus ORPHA:481
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Cryptorchidism, Delayed puberty, Female external genitalia in individual with 46,XY karyotype, De... ORPHA:289548
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Cryptorchidism, Congenital hypothyroidism, Precocious puberty, Failure to thrive OMIM:614736
Non-Functioning Pituitary Adenoma
Male hypogonadism, Pituitary hypothyroidism, Decreased fertility in females, Adrenocorticotropin ... ORPHA:91349
Woodhouse-Sakati Syndrome
Decreased serum insulin-like growth factor 1, Hypergonadotropic hypogonadism, Hypoplasia of the f... OMIM:241080
46,Xy Disorder Of Sex Development Due To 17-Beta-Hydroxysteroid Dehydrogenase 3 Deficiency
Cryptorchidism, Ambiguous genitalia, Infertility, Hypothyroidism, Abnormality of the urethra, Mal... ORPHA:752
Dystonia 12
Dystonia, Depression, Dysphagia, Bradykinesia, Emotional lability, Unsteady gait, Torticollis, An... OMIM:128235
Pseudohypoaldosteronism, Type Iic
Hyperchloremia, Hyperkalemia OMIM:614492
Pseudohypoaldosteronism, Type Iie
Hyperchloremia, Hyperkalemia OMIM:614496
Ravine Syndrome
Apnea, Failure to thrive, Decreased body weight ORPHA:99852
Precocious Puberty, Central, 1
Elevated circulating luteinizing hormone level, Hypothyroidism, Isosexual precocious puberty, Sho... OMIM:176400
Myoclonus-Dystonia Syndrome
Personality disorder, Dystonia, Depression, Writer's cramp, Panic attack, Torticollis, Anxiety ORPHA:36899
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome
Hypergonadotropic hypogonadism, Precocious puberty, Polycystic ovaries ORPHA:2229
Bronchopulmonary Dysplasia
Wheezing, Hyperoxemia, Respiratory distress, Abnormal respiratory system physiology, Dyspnea, Cou... ORPHA:70589
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Increased circulating gonadotropin level, Azoospermia, Non-obstructive azoospermia, Obstructive a... ORPHA:399805
46,Xy Complete Gonadal Dysgenesis
Hypogonadotropic hypogonadism, Testicular dysgenesis, Male pseudohermaphroditism, Polycystic ovaries ORPHA:242
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Increased circulating androstenedione concentration, Long penis, Elevated serum 11-deoxycortisol,... OMIM:202010
Ring Chromosome Y Syndrome
Cryptorchidism, Male hypogonadism, Female infertility, Male infertility, Abnormal spermatogenesis... ORPHA:261529
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome
Cryptorchidism, Interhypothalamic Adhesion, Supernumerary nipple, Micropenis, Agenesis of corpus ... OMIM:618929
47,Xyy Syndrome
Cryptorchidism, Increased circulating gonadotropin level, Azoospermia, Oligospermia, Increased se... ORPHA:8
Sudden Infant Death Syndrome
Apneic episodes in infancy OMIM:272120
Myasthenic Syndrome, Congenital, 6, Presynaptic
Sudden episodic apnea, Respiratory distress, Dysphagia, Respiratory insufficiency due to muscle w... OMIM:254210
Premature Ovarian Failure 17
Elevated circulating luteinizing hormone level, Decreased antimullerian hormone level, Decreased ... OMIM:619146
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Globozoospermia, Increased circulating gonadotropin level, Non-obstructive azoospermia, Decreased... ORPHA:399808
Chromosome Xp11.23-P11.22 Duplication Syndrome
Precocious puberty OMIM:300801
Dyskeratosis Congenita, Autosomal Recessive 2
Testicular atrophy, Cerebral calcification, Growth delay OMIM:613987
Septopreoptic Holoprosencephaly
Abnormality of the septum pellucidum, Perisylvian polymicrogyria, Anterior hypopituitarism, Megal... ORPHA:280195
17-Beta Hydroxysteroid Dehydrogenase Iii Deficiency
Infertility, Hypothyroidism, Female external genitalia in individual with 46,XY karyotype, Male p... OMIM:264300
46,Xy Sex Reversal 1
Ambiguous genitalia, Abnormality of the menstrual cycle, Elevated circulating luteinizing hormone... OMIM:400044
Butyrylcholinesterase Deficiency
Apnea OMIM:617936
Surfactant Metabolism Dysfunction, Pulmonary, 1
Apnea, Dyspnea, Death in infancy, Neonatal respiratory distress, Neonatal death, Respiratory fail... OMIM:265120
Temple Syndrome Due To Paternal 14Q32.2 Microdeletion
Intrauterine growth retardation, Precocious puberty, Postnatal growth retardation, Obesity ORPHA:254525
Mitochondrial Complex I Deficiency, Nuclear Type 2
Apnea, Respiratory insufficiency OMIM:618222
Pituitary Deficiency Due To Empty Sella Turcica Syndrome
Oligomenorrhea, Pituitary hypothyroidism, Hypopituitarism, Impotence, Adrenocorticotropic hormone... ORPHA:91354
2Q24 Microdeletion Syndrome
Camptodactyly of finger, Toe syndactyly, Central apnea, Small for gestational age, Bullet-shaped ... ORPHA:1617
Thyrotropin-Releasing Hormone Deficiency
Hypothyroidism, Hypothalamic hypothyroidism, Short stature OMIM:275120
Premature Ovarian Failure 16
Decreased serum estradiol, Elevated circulating follicle stimulating hormone level, Premature ova... OMIM:618723
Kallmann Syndrome
Cryptorchidism, Abnormal morphology of female internal genitalia, Breast hypoplasia, Erectile dys... ORPHA:478
46,Xx Sex Reversal 5
Ambiguous genitalia, Urogenital sinus anomaly, Increased serum testosterone level OMIM:618901
Hirschsprung Disease, Susceptibility To, 2
Aganglionic megacolon OMIM:600155
Hirschsprung Disease, Susceptibility To, 5
Aganglionic megacolon OMIM:600156
Hirschsprung Disease, Susceptibility To, 3
Aganglionic megacolon OMIM:613711
Hirschsprung Disease, Susceptibility To, 4
Aganglionic megacolon OMIM:613712
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Sudden episodic apnea, Respiratory distress, Dysphagia, Respiratory insufficiency due to muscle w... OMIM:605809
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Abnormal response to ACTH stimulation test, Abnormal circulating dehydroepiandrosterone concentra... ORPHA:90794
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Decreased circulating cortisol level, Endometrial carcinoma, Macroorchidism, Hyperactive renin-an... ORPHA:90790
Ovarian Fibrothecoma
Abnormality of the ovary, Abnormality of the endometrium, Metrorrhagia, Gonadal calcification, Ab... ORPHA:314478
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Testicular atrophy, Decreased fertility OMIM:313200
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related
Apnea, Respiratory failure, Respiratory insufficiency OMIM:613869
Epilepsy, Early-Onset, Vitamin B6-Dependent
Apnea, Respiratory insufficiency OMIM:617290
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Hyperinsulinemia, Long penis, Insulin-resistant diabetes mellitus, Small for gestational age, Dia... OMIM:262190
Duplication Of The Pituitary Gland
Abnormality of the pituitary gland, Abnormal hypothalamus morphology, Decreased body weight, Shor... ORPHA:314621
Severe Neurodevelopmental Disorder With Feeding Difficulties-Stereotypic Hand Movement-Bilateral Cataract
Apneic episodes in infancy, Failure to thrive ORPHA:500545
Androgen Insensitivity Syndrome
Abnormal morphology of female internal genitalia, Cryptorchidism, Abnormality of the uterus, Ambi... ORPHA:754
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Cryptorchidism, Maturity-onset diabetes of the young, Postnatal growth retardation, Truncal obesi... ORPHA:96184
Dystonia 30
Hypothalamic hamartoma, Diffuse cerebral atrophy, Globus pallidus hypointensity on susceptibility... OMIM:619291
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Maturity-onset diabetes of the young, Postnatal growth retardation, Intrauterine growth retardati... ORPHA:254531
Spastic Paraplegia 26, Autosomal Recessive
Cerebral cortical atrophy, Decreased serum testosterone concentration OMIM:609195
Frasier Syndrome
Increased circulating gonadotropin level, Ambiguous genitalia, male, Gonadoblastoma, Hypergonadot... ORPHA:347
Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes
Secondary amenorrhea, Short stature, Premature pubarche OMIM:612847
Surfactant Metabolism Dysfunction, Pulmonary, 3
Apnea, Dyspnea, Respiratory distress, Exertional dyspnea, Cough, Death in infancy, Neonatal respi... OMIM:610921
46,Xy Sex Reversal 8
Sex reversal, Cryptorchidism, Ambiguous genitalia, Male pseudohermaphroditism OMIM:614279
Pandas
Claustrophobia, Depression, Agoraphobia, Emotional lability, Separation insecurity, Impulsivity, ... ORPHA:66624
Generalized Glucocorticoid Resistance Syndrome
Ambiguous genitalia, Increased urinary cortisol level, Infertility, Increased circulating cortiso... ORPHA:786
Müllerian Aplasia And Hyperandrogenism
Abnormality of the ovary, Abnormal vagina morphology, Increased serum testosterone level, Hypopla... ORPHA:247768
Pontocerebellar Hypoplasia, Type 6
Apnea, Death in childhood, Failure to thrive OMIM:611523
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome
Hypoplasia of the corpus callosum, Microcephaly, Cortical dysplasia, Precocious puberty ORPHA:457260
Renal Glucosuria
Polydipsia, Polyphagia OMIM:233100
Androgen Insensitivity, Partial
Cryptorchidism, Infertility, Azoospermia, Bifid scrotum, Absent vas deferens, Perineal hypospadia... OMIM:312300
Prolactin Deficiency With Obesity And Enlarged Testes
Reduced circulating prolactin concentration, Macroorchidism, Obesity OMIM:264120
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome
Cryptorchidism, Cerebral atrophy, Premature pubarche ORPHA:457205
Mitochondrial Complex I Deficiency, Nuclear Type 5
Dysphagia, Failure to thrive, Apnea, Respiratory insufficiency OMIM:618226
Ceroid Lipofuscinosis, Neuronal, 10
Apnea, Respiratory failure, Respiratory insufficiency OMIM:610127
Myasthenic Syndrome, Congenital, 24, Presynaptic
Dysphagia, Camptodactyly, Apnea, Respiratory insufficiency OMIM:618198
Familial Glucocorticoid Deficiency
Cryptorchidism, Decreased circulating dehydroepiandrosterone concentration, Impaired cortisol res... ORPHA:361
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Cryptorchidism, Decreased circulating T4 level, Scrotal hypoplasia, Central hypothyroidism, Decre... ORPHA:98754
Dyskeratosis Congenita, Autosomal Recessive 6
Abnormality of skin pigmentation, Sparse hair, Alopecia, Failure to thrive, Nail dystrophy OMIM:616353
Leigh Syndrome With Leukodystrophy
Apnea, Failure to thrive, Hypertrichosis, Pigmentary retinopathy ORPHA:255241
Maternal Uniparental Disomy Of Chromosome 6
Hydrocele testis, Congenital adrenal hyperplasia, Intrauterine growth retardation, Clitoral hyper... ORPHA:96181
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Cryptorchidism, Decreased circulating T4 level, Scrotal hypoplasia, Central hypothyroidism, Decre... ORPHA:98793
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Cryptorchidism, Decreased circulating T4 level, Scrotal hypoplasia, Central hypothyroidism, Decre... ORPHA:177904
Laryngotracheal Angioma
Apnea, Wheezing, Respiratory distress, Cough, Intercostal retractions, Stridor ORPHA:137935
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Cryptorchidism, Decreased circulating T4 level, Scrotal hypoplasia, Central hypothyroidism, Decre... ORPHA:177901
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Apnea OMIM:616277
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type
Hypoplasia of the corpus callosum, Microcephaly, Precocious puberty, Decreased body weight OMIM:300958
Bartter Syndrome, Type 5, Antenatal, Transient
Hypokalemia, Hyponatremia, Increased circulating renin level, Hypochloremia OMIM:300971
Leukodystrophy, Hypomyelinating, 4
Apnea OMIM:612233
Persistent Müllerian Duct Syndrome
Cryptorchidism, Male pseudohermaphroditism ORPHA:2856
Joubert Syndrome 23
Polydactyly, Apnea, Tachypnea OMIM:616490
Global Developmental Delay With Speech And Behavioral Abnormalities
Cryptorchidism, Supernumerary nipple, Microcephaly, Precocious puberty OMIM:619243
Mccune-Albright Syndrome
Ovarian cyst, Abnormal endocrine physiology, Hyperplasia of the Leydig cells, Elevated circulatin... ORPHA:562
Myotonic Dystrophy 1
Hypogonadism, Cerebral atrophy, Testicular atrophy, Cholelithiasis OMIM:160900
Myasthenic Syndrome, Congenital, 21, Presynaptic
Apnea, Respiratory insufficiency OMIM:617239
46,Xx Gonadal Dysgenesis
Increased circulating gonadotropin level, Streak ovary, Primary amenorrhea, Decreased fertility, ... ORPHA:243
Stuve-Wiedemann Syndrome
Short phalanx of finger, Respiratory insufficiency, Pulmonary arterial hypertension, Femoral bowi... OMIM:601559
Congenital Neuronal Ceroid Lipofuscinosis
Apnea, Central sleep apnea, Split hand, Neonatal respiratory distress, Respiratory failure ORPHA:168486
Pituitary Gigantism
Pituitary growth hormone cell adenoma, Increased serum insulin-like growth factor 1, Elevated cir... ORPHA:99725
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4
Apnea OMIM:615228
Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy
Abnormality of the menstrual cycle, Goiter, Abnormal calcium-phosphate regulating hormone level, ... ORPHA:457059
Autosomal Recessive Spastic Paraplegia Type 11
Focal T2 hyperintense basal ganglia lesion, Overweight, Frontal cortical atrophy, Hypoplasia of t... ORPHA:2822
Mccune-Albright Syndrome
Hyperparathyroidism, Elevated circulating growth hormone concentration, Increased circulating cor... OMIM:174800
Nemaline Myopathy 2
Slender build, Dysphagia, Apnea, Respiratory insufficiency due to muscle weakness OMIM:256030
Microphthalmia, Syndromic 3
Cryptorchidism, Hypothalamic hamartoma, Hypoplasia of the corpus callosum, Patent ductus arterios... OMIM:206900
Seizures, Benign Familial Infantile, 3
Apnea OMIM:607745
Congenital Cataracts, Facial Dysmorphism, And Neuropathy
Hypergonadotropic hypogonadism, Cerebral atrophy, Primary amenorrhea, Short stature, Hypogonadotr... OMIM:604168
Myasthenic Syndrome, Congenital, 16
Apnea OMIM:614198
Type 1 Diabetes Mellitus
Polydipsia, Polyphagia OMIM:222100
Perrault Syndrome 4
Increased circulating gonadotropin level, Oligomenorrhea, Hypoplasia of the uterus, Primary ameno... OMIM:615300
Prader-Willi-Like Syndrome
Cryptorchidism, Decreased circulating T4 level, Scrotal hypoplasia, Central hypothyroidism, Decre... ORPHA:398073
Silver-Russell Syndrome
Cryptorchidism, Abnormal vagina morphology, Premature adrenarche, Secondary microcephaly, Failure... ORPHA:813
3-Methylglutaconic Aciduria, Type Viii
Apnea, Respiratory failure, Death in infancy OMIM:617248
Seizures, Benign Familial Infantile, 1
Apnea OMIM:601764
Pallister-Hall-Like Syndrome
Hypothalamic hamartoma, Micropenis, Anterior hypopituitarism OMIM:241800
Adrenocortical Carcinoma
Abnormal circulating dehydroepiandrosterone concentration, Paradoxical increased cortisol secreti... ORPHA:1501
Leukoencephalopathy With Vanishing White Matter
Premature ovarian insufficiency, Primary amenorrhea, Secondary amenorrhea, Decreased circulating ... OMIM:603896
Gaucher Disease, Type Ii
Dysphagia, Recurrent aspiration pneumonia, Apnea, Failure to thrive OMIM:230900
Combined Oxidative Phosphorylation Deficiency 51
Focal T2 hyperintense thalamic lesion, Growth delay, Cerebral atrophy, Severe short stature, Smal... OMIM:619057
Inverted Duplicated Chromosome 15 Syndrome
Cryptorchidism, Growth delay, Hypogonadism, Microcephaly, Gonadal dysgenesis, Precocious puberty ORPHA:3306
Encephalopathy, Neonatal Severe, Due To Mecp2 Mutations
Apnea, Failure to thrive, Central hypoventilation, Respiratory insufficiency OMIM:300673
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency
Ambiguous genitalia, Primary amenorrhea, Male pseudohermaphroditism, Adrenal hyperplasia, Adrenog... OMIM:202110
Hemochromatosis, Type 1
Azoospermia, Amenorrhea, Impotence, Testicular atrophy, Hypogonadotropic hypogonadism, Diabetes m... OMIM:235200
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Testicular atrophy OMIM:601163
Pontocerebellar Hypoplasia Type 4
Respiratory failure requiring assisted ventilation, Central apnea ORPHA:166063
Senior-Loken Syndrome 1
Polydipsia OMIM:266900
Skeletal Dysplasia And Progressive Central Nervous System Degeneration, Lethal
Apnea, Hypoplasia of the radius, Sparse hair, Hypoplastic pelvis, Death in infancy, Hypoplasia of... OMIM:602613
Robinow Syndrome
Cryptorchidism, Webbed penis, Scrotal hypoplasia, External genital hypoplasia, Clitoral hypoplasi... ORPHA:97360
Prader-Willi Syndrome
Cryptorchidism, Scrotal hypoplasia, Central hypothyroidism, Decreased circulating gonadotropin co... ORPHA:739
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Abnormal response to ACTH stimulation test, Cryptorchidism, Abnormal response to human chorionic ... ORPHA:95699
Mitochondrial Complex I Deficiency, Nuclear Type 10
Dysphagia, Respiratory failure, Apnea, Central hypoventilation OMIM:618233
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency
Ambiguous genitalia, Premature pubarche, Bifid scrotum, Male pseudohermaphroditism, Hypospadias, ... OMIM:201810
Hypophosphatasia, Infantile
Apnea, Stillbirth, Death in infancy, Metaphyseal cupping, Bowing of the legs, Failure to thrive, ... OMIM:241500
Male Pseudohermaphroditism/Mental Retardation Syndrome, Verloes Type
Growth delay, Postnatal growth retardation, Male pseudohermaphroditism, Obesity OMIM:600122
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome
Cryptorchidism, Absence of labia majora, Hypoplastic labia minora, Decreased serum testosterone c... ORPHA:495875
Coasy Protein-Associated Neurodegeneration
Abnormality of thalamus morphology, Eye of the tiger anomaly of globus pallidus, Abnormal caudate... ORPHA:397725
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Apnea, Failure to thrive OMIM:619048
Acquired Central Diabetes Insipidus
Polydipsia ORPHA:95626
Primary Pulmonary Hypoplasia
Abnormal breath sound, Apnea, Restrictive ventilatory defect, Neonatal respiratory distress, Pate... ORPHA:2257
Hyperglycinemia, Lactic Acidosis, And Seizures
Apnea, Respiratory insufficiency OMIM:614462
Rabson-Mendenhall Syndrome
Long penis, Enlarged ovaries, Hypothyroidism, Increased circulating androgen concentration, Insul... ORPHA:769
Wolfram Syndrome 1
Hypothyroidism, Growth delay, Cerebral atrophy, Testicular atrophy, Diabetes insipidus, Diabetes ... OMIM:222300
Methemoglobinemia And Ambiguous Genitalia
Ambiguous genitalia, Bifid scrotum, Male pseudohermaphroditism, Hypospadias, Micropenis OMIM:250790
Diencephalic-Mesencephalic Junction Dysplasia Syndrome 2
Abnormality of the basal ganglia, Decreased thalamic volume, Hypoplasia of the olfactory bulb OMIM:618646
Glutamine Deficiency, Congenital
Apnea, Neonatal death, Neonatal respiratory distress, Camptodactyly OMIM:610015
Donohue Syndrome
Ovarian cyst, Long penis, Hyperinsulinemia, Postnatal growth retardation, Intrauterine growth ret... OMIM:246200
Optic Pathway Glioma
Growth delay, Precocious puberty ORPHA:2086
Amoebiasis Due To Free-Living Amoebae
Myocardial necrosis, Abnormal hypothalamus morphology, Abnormal cerebral white matter morphology,... ORPHA:68
Steinert Myotonic Dystrophy
Male hypogonadism, Hyperinsulinemia, Hypergonadotropic hypogonadism, Endometrial carcinoma, Abnor... ORPHA:273
Pyruvate Dehydrogenase E1-Alpha Deficiency
Apneic episodes precipitated by illness, fatigue, stress, Small for gestational age OMIM:312170
Semilobar Holoprosencephaly
Panhypopituitarism, Abnormality of the endocrine system, Growth delay, Central hypothyroidism, Ab... ORPHA:220386
Alobar Holoprosencephaly
Panhypopituitarism, Abnormality of the endocrine system, Growth delay, Central hypothyroidism, Ab... ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Panhypopituitarism, Abnormality of the endocrine system, Growth delay, Central hypothyroidism, Ab... ORPHA:93926
Lobar Holoprosencephaly
Panhypopituitarism, Abnormality of the endocrine system, Growth delay, Central hypothyroidism, Ab... ORPHA:93924
Mitochondrial Complex I Deficiency, Nuclear Type 14
Apnea OMIM:618236
Auriculocondylar Syndrome 2
Apnea, Snoring OMIM:614669
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Apnea, Cardiorespiratory arrest, Bronchospasm, Abnormal pattern of respiration, Stridor OMIM:608800
Diarrhea 1, Secretory Chloride, Congenital
Hypokalemia, Hyponatremia, Hypochloremia OMIM:214700
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Apnea, Death in infancy OMIM:614498
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Decreased circulating ACTH level, Adrenocorticotropin deficient adrenal insufficiency, Decreased ... ORPHA:293978
Mitochondrial Complex I Deficiency, Nuclear Type 4
Apnea OMIM:618225
Joubert Syndrome 30
Apnea, Postaxial hand polydactyly, Tachypnea OMIM:617622
Denys-Drash Syndrome
Gonadal dysgenesis, Male pseudohermaphroditism ORPHA:220
Aromatase Deficiency
Hypergonadotropic hypogonadism, Ovarian cyst, Primary amenorrhea, Female pseudohermaphroditism OMIM:613546
Thanatophoric Dysplasia, Type Ii
Metaphyseal irregularity, Hypoplastic ilia, Short greater sciatic notch, Respiratory insufficienc... OMIM:187601
Joubert Syndrome 7
Postaxial hand polydactyly, Episodic tachypnea, Postaxial polydactyly, Central apnea, Tachypnea, ... OMIM:611560
48,Xxyy Syndrome
Hip dysplasia, Apnea, Radioulnar synostosis, Asthma, Abnormal shoulder morphology, Clinodactyly o... ORPHA:10
Juvenile Neuronal Ceroid Lipofuscinosis
Apnea, Pigmentary retinopathy, Dysphagia, Episodic tachypnea, Aspiration pneumonia ORPHA:79264
9P13 Microdeletion Syndrome
Short stature, Precocious puberty, External genital hypoplasia ORPHA:324313
Ovarian Hyperstimulation Syndrome
Ovarian cyst, Increased circulating gonadotropin level, Hemorrhagic ovarian cyst, Enlarged polycy... ORPHA:64739
Cach Syndrome
T2 hypointense thalamus, Growth delay, Cerebral atrophy, Primary amenorrhea, Secondary amenorrhea... ORPHA:135
Hereditary Sensory And Autonomic Neuropathy Due To Tecpr2 Mutation
Low anterior hairline, Central apnea ORPHA:320385
Congenital Generalized Lipodystrophy
Hyperinsulinemia, Amenorrhea, Oligomenorrhea, Polycystic ovaries, Precocious puberty in females, ... ORPHA:528
Hereditary Central Diabetes Insipidus
Polydipsia ORPHA:30925
Early-Onset Schizophrenia
Low self esteem, Polyphagia, Depression, Abnormal emotion/affect behavior, Impairment in personal... ORPHA:96369
Frasier Syndrome
Primary amenorrhea, Ovarian gonadoblastoma, Gonadal dysgenesis, Male pseudohermaphroditism OMIM:136680
Aromatase Deficiency
Cryptorchidism, Eunuchoid habitus, Hypergonadotropic hypogonadism, Growth delay, Primary amenorrh... ORPHA:91
Ollier Disease
Precocious puberty ORPHA:296
Neuropathy, Hereditary Sensory And Autonomic, Type Ix, With Developmental Delay
Low anterior hairline, Central apnea OMIM:615031
Slc35A2-Cdg
Cerebral white matter atrophy, Hypoplasia of the corpus callosum, Abnormal cerebral white matter ... ORPHA:356961
Joubert Syndrome 33
Apnea OMIM:617767
Microgastria-Limb Reduction Defects Association
Cryptorchidism, Porencephalic cyst, Arrhinencephaly, Fusion of the left and right thalami, Bicorn... OMIM:156810
Insulin-Resistance Syndrome Type B
Hyperinsulinemic hypoglycemia, Hyperinsulinemia, Enlarged ovaries, Abnormality of circulating lep... ORPHA:2298
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 2
T2 hypointense thalamus, Hypoplasia of the corpus callosum, Cerebral cortical atrophy, Basal gang... OMIM:618193
Senior-Loken Syndrome 4
Polydipsia OMIM:606996
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness
Hypokalemia, Hyponatremia, Hyperchloriduria, Hypochloremia OMIM:613090
Hypoadrenocorticism, Familial
Abnormality of skin pigmentation, Apnea OMIM:240200
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome
Aplasia/Hypoplasia of the corpus callosum, Cerebral cortical atrophy, Hydranencephaly, Abnormalit... ORPHA:2570
Marshall-Smith Syndrome
Distal widening of metacarpals, Apnea, Bullet-shaped middle phalanges of the hand, Short sternum,... OMIM:602535
Faciocardiomelic Dysplasia, Lethal
Hypoplasia of the radius, Hypoplasia of the ulna, Fibular hypoplasia, Neonatal death, Small for g... OMIM:227270
Neurodevelopmental Disorder With Seizures And Brain Atrophy
Hypoplasia of the corpus callosum, Cerebral cortical atrophy, Decreased thalamic volume, Simplifi... OMIM:619072
Prader-Willi Syndrome
Cryptorchidism, Infertility, Hyperinsulinemia, Oligomenorrhea, Scrotal hypoplasia, External genit... OMIM:176270
Peroxisome Biogenesis Disorder 11A (Zellweger)
Apnea, Failure to thrive OMIM:614883
Leukoencephalopathy, Arthritis, Colitis, And Hypogammaglobulinema
Dysphagia, Apnea, Failure to thrive OMIM:608809
Fatal Familial Insomnia
Dysphagia, Apnea, Weight loss OMIM:600072
Campomelic Dysplasia
Apnea, Respiratory distress, Hypoplastic scapulae, Shortening of all phalanges of fingers, Hypopl... OMIM:114290
Benign Familial Neonatal Epilepsy
Apnea ORPHA:1949
Kleefstra Syndrome Due To A Point Mutation
Hypoplasia of the corpus callosum, Abnormal cerebral white matter morphology, Failure to thrive, ... ORPHA:261652
Joubert Syndrome 3
Highly arched eyebrow, Pigmentary retinopathy, Episodic tachypnea, Central apnea, Neonatal breath... OMIM:608629
Epidermolysis Bullosa, Lethal Acantholytic
Anonychia, Absent fingernail, Widely spaced toes, Sandal gap, Alopecia totalis, Neonatal death, S... OMIM:609638
19P13.3 Microduplication Syndrome
Growth delay, Cerebral atrophy, Unilateral cryptorchidism, Intrauterine growth retardation, Micro... ORPHA:447980
Myasthenic Syndrome, Congenital, 20, Presynaptic
Dysphagia, Stridor, Apnea, Hypoventilation OMIM:617143
Peroxisome Biogenesis Disorder 2A (Zellweger)
Apnea, Brushfield spots, Pigmentary retinopathy, Camptodactyly, Metatarsus adductus, Death in chi... OMIM:214110
Classic Glucose Transporter Type 1 Deficiency Syndrome
Central apnea ORPHA:71277
Currarino Syndrome
Hypospadias, Male pseudohermaphroditism, Bifid scrotum, Hypoplasia of penis ORPHA:1552
Joubert Syndrome 9
Apnea, Episodic tachypnea OMIM:612285
Diabetes Insipidus, Neurohypophyseal Type
Polydipsia OMIM:304900
Myoclonus, Intractable, Neonatal
Dysphagia, Apnea OMIM:617235
Wieacker-Wolff Syndrome
Apnea, High anterior hairline, Camptodactyly, Neonatal respiratory distress, Hip dislocation, Pro... OMIM:314580
Cerebral-Cerebellar-Coloboma Syndrome, X-Linked
Apnea OMIM:300864
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Hypokalemia, Hyponatremia, Hyperchloriduria, Hypochloremia OMIM:602522
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Dysphagia, Apneic episodes in infancy, Episodic tachypnea ORPHA:163961
Atypical Rett Syndrome
Sudden episodic apnea, Abnormal pattern of respiration, Episodic tachypnea, Small hand, Short foot ORPHA:3095
19P13.12 Microdeletion Syndrome
Cryptorchidism, Hypoplasia of the corpus callosum, Hypothyroidism, Hypospadias, Intrauterine grow... ORPHA:254346
Myotonia Fluctuans
Choking episodes, Stridor, Apnea ORPHA:99734
Benign Familial Infantile Epilepsy
Apnea ORPHA:306
Leigh Syndrome With Cardiomyopathy
Apnea, Respiratory distress, Dysphagia, Central hypoventilation, Respiratory failure, Hypertricho... ORPHA:70474
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Hypospadias, Precocious puberty, Rhizomelia OMIM:615877
Pontocerebellar Hypoplasia Type 2
Oral-pharyngeal dysphagia, Apnea, Impaired oropharyngeal swallow response ORPHA:2524
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Apnea, Hypoventilation, Respiratory distress, Polydactyly, Sparse lateral eyebrow, Aspiration pne... ORPHA:314655
Plaa-Associated Neurodevelopmental Disorder
Apnea, Rocker bottom foot, Postaxial hand polydactyly, Hirsutism, Respiratory insufficiency, Post... ORPHA:521426
Congenital Myasthenic Syndrome
Choking episodes, Episodic respiratory distress, Central sleep apnea, Sudden episodic apnea, Cong... ORPHA:590
Presynaptic Congenital Myasthenic Syndromes
Choking episodes, Episodic respiratory distress, Central sleep apnea, Sudden episodic apnea, Cong... ORPHA:98914
Osteoporosis-Pseudoglioma Syndrome
Isosexual precocious puberty, Short stature ORPHA:2788
Glycine Encephalopathy With Normal Serum Glycine
Apnea, Overlapping toe, Dysphagia, Long eyelashes, Respiratory failure, Hip dislocation OMIM:617301
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Hypergonadotropic hypogonadism, Primary amenorrhea, Testicular atrophy, Secondary amenorrhea, Pre... OMIM:157640
Pallister-Hall Syndrome
Cryptorchidism, Panhypopituitarism, Hypothalamic hamartoma, Adrenal hypoplasia, Decreased circula... OMIM:146510
Severe X-Linked Intellectual Disability, Gustavson Type
Rocker bottom foot, Congenital hip dislocation, Apneic episodes in infancy, Small for gestational... ORPHA:3078
Neurodevelopmental Disorder With Poor Language And Loss Of Hand Skills
Apnea, Small hand, Short foot, Hyperventilation OMIM:617903
Joubert Syndrome
Highly arched eyebrow, Apnea, Hand polydactyly, Episodic tachypnea, Foot polydactyly, Abnormal pa... ORPHA:475
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7
Cryptorchidism, Premature adrenarche, Postnatal growth retardation, Severe intrauterine growth re... ORPHA:96182
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Abnormality of thalamus morphology, Cryptorchidism ORPHA:404440
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Apnea, Rocker bottom foot, Dysphagia, Hirsutism, Postaxial polydactyly, Respiratory insufficiency... OMIM:617527
Genitopatellar Syndrome
Apnea, Radioulnar synostosis, Hypoplastic ilia, Sparse scalp hair, Hypoplastic ischia, Patellar a... ORPHA:85201
Pancreatic And Cerebellar Agenesis
Overlapping fingers, Apnea, Death in infancy, Failure to thrive OMIM:609069
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Apnea, Proximal femoral metaphyseal irregularity, Cone-shaped epiphysis, Postaxial polydactyly, E... ORPHA:397715
Rett Syndrome
Apnea, Intermittent hyperventilation, Cachexia, Short foot OMIM:312750
Schwartz-Jampel Syndrome
Death in infancy, Long eyelashes in irregular rows, Respiratory insufficiency, Pulmonary arterial... ORPHA:800
Basal Ganglia Calcification, Idiopathic, 8, Autosomal Recessive
Basal ganglia calcification, Thalamic calcification OMIM:618824
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Apnea, Hypoplastic toenails, Respiratory distress, Tapered toe, Respiratory insufficiency, Respir... OMIM:608836
Infantile Bartter Syndrome With Sensorineural Deafness
Hyponatremia, Increased circulating renin level, Emotional lability, Hypokalemia, Hypochloremia, ... ORPHA:89938
Peripheral Primitive Neuroectodermal Tumor
Ovarian neoplasm, Weight loss, Uterine neoplasm, Neoplasm of the scrotum, Metrorrhagia, Neoplasm ... ORPHA:370348
D-2-Hydroxyglutaric Aciduria 1
Apnea, Inspiratory stridor OMIM:600721
Schimmelpenning-Feuerstein-Mims Syndrome
Hemimegalencephaly, Growth delay, Precocious puberty, Short stature OMIM:163200
Lesch-Nyhan Syndrome
Testicular atrophy, Short stature OMIM:300322
Hyperekplexia 1
Apnea, Hip dislocation, Aspiration OMIM:149400
Joubert Syndrome With Oculorenal Defect
Highly arched eyebrow, Apnea, Hand polydactyly, Foot polydactyly, Tachypnea ORPHA:2318
Bartter Syndrome, Type 2, Antenatal
Increased circulating renin level, Increased serum prostaglandin E2, Hypokalemia, Hypochloremia, ... OMIM:241200
Orofaciodigital Syndrome Type 6
Highly arched eyebrow, Apnea, Hand polydactyly, Central Y-shaped metacarpal, Finger clinodactyly,... ORPHA:2754
Orofaciodigital Syndrome Vi
Hypothalamic hamartoma, Short stature, Failure to thrive OMIM:277170
Bartter Syndrome, Type 1, Antenatal
Increased circulating renin level, Increased serum prostaglandin E2, Hypokalemia, Hypercalcemia, ... OMIM:601678
Mucopolysaccharidosis Type 1
Apnea, Low anterior hairline, Abnormality of epiphysis morphology, Split hand, Cough, Abnormal hi... ORPHA:579
Propionic Acidemia
Tachypnea, Apnea, Failure to thrive OMIM:606054
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii
Disproportionate short stature, Hypoplasia of the corpus callosum, Patent ductus arteriosus, Trun... ORPHA:2637
Congenital Disorder Of Glycosylation, Type Ij
Apnea, Clinodactyly of the 5th finger, Respiratory insufficiency OMIM:608093
Rhombencephalosynapsis
Fusion of the left and right thalami, Abnormality of the uterus, Septo-optic dysplasia ORPHA:59315
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Abnormality of thalamus morphology, Type II lissencephaly, Hypoplasia of the corpus callosum, Dys... ORPHA:300570
Myotonia, Potassium-Aggravated
Apneic episodes in infancy, Stridor OMIM:608390
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency
Apnea, Failure to thrive OMIM:210200
Pseudo-Torch Syndrome 3
Apnea, Death in infancy, Respiratory insufficiency OMIM:618886
Pontocerebellar Hypoplasia, Type 7
Apnea OMIM:614969
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
Apnea, Respiratory insufficiency, Blotching pigmentation of the skin OMIM:614653
Hyperekplexia 3
Apnea OMIM:614618
Joubert Syndrome With Renal Defect
Apnea, Highly arched eyebrow, Hand polydactyly, Abnormal pattern of respiration ORPHA:220497
Arachnodactyly-Abnormal Ossification-Intellectual Disability Syndrome
Apnea, Arachnodactyly ORPHA:1129
Paternal Uniparental Disomy Of Chromosome 6
Cryptorchidism, Patent ductus arteriosus, Postnatal growth retardation, Neonatal insulin-dependen... ORPHA:96191
Denys-Drash Syndrome
Ambiguous genitalia, male, Gonadal tissue inappropriate for external genitalia or chromosomal sex... OMIM:194080
Familial Cold Urticaria
Polydipsia ORPHA:47045
Carpenter Syndrome 1
Cryptorchidism, Aplasia/Hypoplasia of the corpus callosum, Cerebral atrophy, Patent ductus arteri... OMIM:201000
2-Methylbutyryl-Coa Dehydrogenase Deficiency
Apneic episodes in infancy OMIM:610006
Smith-Magenis Syndrome
Aplasia/Hypoplasia of the corpus callosum, Hypothyroidism, Failure to thrive in infancy, Delayed ... ORPHA:819
Auriculocondylar Syndrome 1
Apnea, Snoring OMIM:602483
Teratoma, Pineal
Polydipsia OMIM:273120
Mitochondrial Dna Depletion Syndrome 14 (Cardioencephalomyopathic Type)
Apnea OMIM:616896
X-Linked Intellectual Disability, Snyder Type
Cryptorchidism, Abnormality of the Leydig cells, Megalencephaly, Testicular atrophy, Short statur... ORPHA:3063
Oculocerebrodental Syndrome
Abnormality of thalamus morphology, Dysplastic corpus callosum, Focal white matter lesions, Short... ORPHA:557003
Bardet-Biedl Syndrome 9
Polydipsia, Polyphagia OMIM:615986
Joubert Syndrome With Ocular Defect
Apnea, Highly arched eyebrow, Hand polydactyly, Foot polydactyly, Abnormal pattern of respiration ORPHA:220493
Myhre Syndrome
Cryptorchidism, Abnormal penis morphology, External genital hypoplasia, Severe short stature, Hyp... ORPHA:2588
Odontochondrodysplasia 2 With Hearing Loss And Diabetes
Proportionate short stature, Growth delay, Type I diabetes mellitus, Precocious puberty, Obesity OMIM:619269
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii
Disproportionate short stature, Postnatal growth retardation, Truncal obesity, Type II diabetes m... OMIM:210720
Central Diabetes Insipidus
Polydipsia ORPHA:178029
Hermansky-Pudlak Syndrome 10
Apnea, Albinism, Ocular albinism OMIM:617050
Fructose-1,6-Bisphosphatase Deficiency
Apnea, Dyspnea, Hyperventilation OMIM:229700
Tarp Syndrome
Apnea, Rocker bottom foot, Hand polydactyly, Finger syndactyly, Short sternum, Postaxial polydact... ORPHA:2886
Gaucher Disease, Perinatal Lethal
Dysphagia, Apnea, Respiratory distress, Decreased body weight OMIM:608013
Tenorio Syndrome
Apnea, Thick eyebrow, Hypertrichosis, Pneumonia OMIM:616260
Mitochondrial Dna-Associated Leigh Syndrome
Apnea, Episodic respiratory distress, Dyspnea, Pigmentary retinopathy, Dysphagia, Failure to thri... ORPHA:255210
8P Inverted Duplication/Deletion Syndrome
Cryptorchidism, Agenesis of corpus callosum, Aplasia/Hypoplasia of the gallbladder, Micropenis, P... ORPHA:96092
Brachytelephalangic Chondrodysplasia Punctata
Epiphyseal stippling, Abnormal ossification involving the femoral head and neck, Epiphyseal stipp... ORPHA:79345
Basilicata-Akhtar Syndrome
Precocious puberty OMIM:301032
Neurological Conditions Associated With Aminoacylase 1 Deficiency
Apnea ORPHA:137754
Radio-Tartaglia Syndrome
Microcephaly, Agenesis of corpus callosum, Precocious puberty, Obesity OMIM:619312
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development
Fusion of the left and right thalami, Abnormality of the anterior commissure, Agenesis of corpus ... OMIM:617542
Coach Syndrome 2
Apneic episodes in infancy OMIM:619111
Alternating Hemiplegia Of Childhood
Apnea, Respiratory distress, Dysphagia, Oral-pharyngeal dysphagia, Failure to thrive, Thin eyebro... ORPHA:2131
Tuberous Sclerosis 1
Hypothyroidism, Adenoma sebaceum, Cerebral calcification, Cortical tubers, Hemimegalencephaly, Pr... OMIM:191100
Hydranencephaly
Dysgenesis of the thalamus, Abnormal corpus striatum morphology, Hypoplastic hippocampus, Postnat... ORPHA:2177
Joubert Syndrome 2
Postaxial hand polydactyly, Episodic tachypnea, Central apnea, Failure to thrive, Neonatal breath... OMIM:608091
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Apnea, Clinodactyly of the 5th finger OMIM:618056
Mitochondrial Complex Iv Deficiency, Nuclear Type 3
Focal T2 hyperintense thalamic lesion, Failure to thrive OMIM:619046
Biotinidase Deficiency
Tachypnea, Apnea, Alopecia OMIM:253260
Infantile Neuroaxonal Dystrophy
Choking episodes, Apneic episodes in infancy, Aspiration pneumonia ORPHA:35069
Developmental And Epileptic Encephalopathy 90
Apneic episodes in infancy OMIM:301058
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Elevated circulating luteinizing hormone level, Lacrimal gland hypoplasia, Oligomenorrhea, Hyperg... ORPHA:572333
Combined Oxidative Phosphorylation Defect Type 23
Abnormal thalamic MRI signal intensity, Failure to thrive, Abnormal basal ganglia MRI signal inte... ORPHA:444013
Shprintzen-Goldberg Syndrome
Apnea, Genu valgum, Camptodactyly of finger, Bowing of the long bones, Failure to thrive, Abnorma... ORPHA:2462
Fibrous Dysplasia Of Bone
Ovarian cyst, Elevated circulating growth hormone concentration, Increased circulating cortisol l... ORPHA:249
Necrotizing Enterocolitis
Apnea, Small for gestational age ORPHA:391673
Joubert Syndrome 1
Highly arched eyebrow, Postaxial hand polydactyly, Episodic tachypnea, Central apnea, Clinodactyl... OMIM:213300
Ochoa Syndrome
Polydipsia ORPHA:2704
Orofaciodigital Syndrome Type 2
Apnea, Postaxial hand polydactyly, Y-shaped metacarpals, Adactyly, Cone-shaped epiphyses of the p... ORPHA:2751
Congenital Left Ventricular Aneurysm
Apnea ORPHA:1055
Autosomal Recessive Spastic Paraplegia Type 77
Hip dysplasia, Neuromuscular dysphagia, Sudden episodic apnea ORPHA:466722
Biotinidase Deficiency
Apnea, Respiratory distress, Alopecia, Hyperventilation ORPHA:79241
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Pulmonary arterial hypertension, Sleep apnea, Central apnea OMIM:616482
Osteopathia Striata With Cranial Sclerosis
Apnea, Fibular aplasia, Camptodactyly, Flexion contracture of toe, Tracheomalacia, Fibular hypopl... OMIM:300373
Illum Syndrome
Apnea OMIM:208155
Pallister-Hall Syndrome
Cryptorchidism, Scrotal hypoplasia, Patent ductus arteriosus, Pituitary hypothyroidism, Decreased... ORPHA:672
Fructose-1,6-Bisphosphatase Deficiency
Dyspnea, Respiratory distress, Episodic tachypnea, Apneic episodes in infancy, Intermittent hyper... ORPHA:348
Tay-Sachs Disease
Hypointensity of cerebral white matter on MRI, Precocious puberty, Abnormal thalamic MRI signal i... ORPHA:845
Tuberous Sclerosis 2
Hypothyroidism, Adenoma sebaceum, Cerebral calcification, Cortical tubers, Hemimegalencephaly, Pr... OMIM:613254
Combined Oxidative Phosphorylation Defect Type 7
Hypoplasia of the corpus callosum, Abnormal cerebral white matter morphology, Failure to thrive, ... ORPHA:254930
Familial Hyperaldosteronism Type I
Polydipsia ORPHA:403
Central Hypoventilation Syndrome, Congenital, 1
Apnea, Hypoventilation, Hypercapnia, Central hypoventilation, Hypoxemia OMIM:209880
Orofaciodigital Syndrome Xvi
Apnea, Postaxial hand polydactyly OMIM:617563
Arnold-Chiari Malformation Type Ii
Inspiratory stridor, Dysphagia, Apnea, Pneumonia ORPHA:1136
Neuroferritinopathy
T2 hypointense thalamus, Abnormal caudate nucleus morphology, Abnormal thalamic MRI signal intens... ORPHA:157846
Alexander Disease
Agenesis of corpus callosum, Hypothyroidism, Megalencephaly, Cerebral calcification, Failure to t... ORPHA:58
Kabuki Syndrome
Cryptorchidism, Cerebral cortical atrophy, Failure to thrive, Hypoplasia of penis, Short stature,... ORPHA:2322
Wiedemann-Rautenstrauch Syndrome
Cryptorchidism, Long penis, Failure to thrive, Short stature, Intrauterine growth retardation, Hy... OMIM:264090
Kcnq2-Related Epileptic Encephalopathy
Apnea ORPHA:439218
Bohring-Opitz Syndrome
Apnea, Synophrys, Hypertrichosis, Metacarpophalangeal joint contracture, Severe failure to thrive... ORPHA:97297
Orofaciodigital Syndrome I
Hypothalamic hamartoma, Ovarian cyst, Porencephalic cyst, Pancreatic cysts, Abnormal cortical gyr... OMIM:311200
Early Infantile Epileptic Encephalopathy
Diffuse white matter abnormalities, Pachygyria, Hypoplasia of the corpus callosum, Failure to thr... ORPHA:1934
3P25.3 Microdeletion Syndrome
Abnormality of thalamus morphology, Patent ductus arteriosus, Cerebral white matter atrophy ORPHA:435638
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Apnea OMIM:261680
Hyperaldosteronism, Familial, Type Iii
Polydipsia OMIM:613677
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Premature pubarche, Hypothyroidism, Cerebral atrophy, Microcephaly, Premature thelarche OMIM:616878
Familial Acute Necrotizing Encephalopathy
Abnormality of thalamus morphology, Abnormal putamen morphology, Cerebral edema ORPHA:88619
Non-Specific Syndromic Intellectual Disability
Cryptorchidism, Small scrotum, Frontal cortical atrophy, Decreased body weight, Abnormal corpus c... ORPHA:528084
Nephronophthisis 4
Polydipsia OMIM:606966
Familial Hyperaldosteronism Type Iii
Polydipsia ORPHA:251274
New-Onset Refractory Status Epilepticus
Focal T2 hyperintense basal ganglia lesion, Abnormal thalamic MRI signal intensity, Abnormal basa... ORPHA:363558
Aicardi Syndrome
Cavum septum pellucidum, Pachygyria, Postnatal growth retardation, Polymicrogyria, Dilated third ... OMIM:304050
3-Hydroxy-3-Methylglutaric Aciduria
Tachypnea, Apnea, Weight loss ORPHA:20
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Cryptorchidism, Ambiguous genitalia, Bifid scrotum, Chordee, Elevated circulating 17-hydroxyproge... OMIM:201750
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency
Apnea, Failure to thrive ORPHA:395
Smith-Lemli-Opitz Syndrome
Ambiguous genitalia, Cryptorchidism, Bifid scrotum, Hypoplasia of the corpus callosum, Growth del... OMIM:270400
Holoprosencephaly-Caudal Dysgenesis Syndrome
Microcephaly, Abnormality of the diencephalon ORPHA:2165
Norrie Disease
Cryptorchidism, Erectile dysfunction, Uterine rupture, Cerebral cortical atrophy, Delayed puberty... ORPHA:649
Stüve-Wiedemann Syndrome
Metaphyseal widening, Apnea, Genu valgum, Camptodactyly of finger, Respiratory distress, Bowing o... ORPHA:3206
Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type
T2 hypointense thalamus, Cerebral atrophy, Hyperintensity of cerebral white matter on MRI, Sponta... ORPHA:1947
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Growth delay, Abnormal thalamic MRI signal intensity, Abnormal mitochondrial shape, Secondary mic... ORPHA:485421
East Syndrome
Polydipsia, Salt craving ORPHA:199343
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Apnea, Short femur, Respiratory distress, Polydactyly, Short humerus, Failure to thrive ORPHA:17
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome
Sleep apnea, Horizontal eyebrow, Widow's peak, 2-3 toe syndactyly, Central apnea, Equinus calcane... ORPHA:522077
Wiedemann-Rautenstrauch Syndrome
Slender build, Cryptorchidism, Increased serum testosterone level, Growth delay, Increased serum ... ORPHA:3455
Senior-Loken Syndrome 3
Polydipsia OMIM:606995
Nephronophthisis 3
Polydipsia OMIM:604387
Diabetes Insipidus, Nephrogenic, 2, Autosomal
Polydipsia OMIM:125800
Diabetes Insipidus, Nephrogenic, X-Linked
Polydipsia OMIM:304800
Autosomal Recessive Malignant Osteopetrosis
Apnea, Abnormality of epiphysis morphology, Bowing of the long bones, Abnormality of the metaphys... ORPHA:667
Japanese Encephalitis
Abnormality of thalamus morphology, Focal T2 hyperintense thalamic lesion, Abnormality of the int... ORPHA:79139
Aceruloplasminemia
Abnormal pancreas morphology, Diabetes mellitus, Abnormal corpus striatum morphology, Abnormal th... ORPHA:48818
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Cryptorchidism, Abnormality of the endocrine system, Chordee, Hypoplasia of the corpus callosum, ... ORPHA:268261
Mosaic Variegated Aneuploidy Syndrome
Abnormality of skin pigmentation, Apnea, Clinodactyly of the 5th finger, Multiple cafe-au-lait spots ORPHA:1052
Leigh Syndrome
Focal T2 hyperintense basal ganglia lesion, Hypoplasia of the corpus callosum, Diffuse spongiform... ORPHA:506
Hypophosphatemic Rickets
Parathyroid hyperplasia, Hyperparathyroidism, Disproportionate short stature, Hyperthyroidism, El... ORPHA:437
Congenital Muscular Dystrophy With Cerebellar Involvement
Diffuse white matter abnormalities, Type II lissencephaly, Polymicrogyria, Decreased thalamic vol... ORPHA:370959
Aromatic L-Amino Acid Decarboxylase Deficiency
Apnea, Cardiorespiratory arrest OMIM:608643
Oculocerebral Hypopigmentation Syndrome, Preus Type
Abnormality of the diencephalon, Short stature ORPHA:2720
Pediatric-Onset Graves Disease
Polydipsia, Polyphagia ORPHA:525731
Koolen-De Vries Syndrome Due To A Point Mutation
Slender build, Cryptorchidism, Agenesis of corpus callosum, Primary adrenal insufficiency, Hypopl... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Slender build, Cryptorchidism, Agenesis of corpus callosum, Primary adrenal insufficiency, Hypopl... ORPHA:363958
Joubert Syndrome With Hepatic Defect
Postaxial hand polydactyly, Apnea, Highly arched eyebrow, Abnormal pattern of respiration ORPHA:1454
Nephronophthisis 1
Polydipsia OMIM:256100
Primary Unilateral Adrenal Hyperplasia
Polydipsia ORPHA:231580
Wolf-Hirschhorn Syndrome
Cryptorchidism, Cavum septum pellucidum, Agenesis of corpus callosum, Absent septum pellucidum, P... OMIM:194190
Cystinosis
Polydipsia ORPHA:213
Aicardi Syndrome
Pachygyria, Delayed puberty, Polymicrogyria, Microcephaly, Precocious puberty, Partial agenesis o... ORPHA:50
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Polydipsia ORPHA:369929
Xp21 Deletion Syndrome
Apneic episodes in infancy, Finger clinodactyly ORPHA:261476
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Patent ductus arteriosus, Precocious puberty, Hypoparathyroidism, Obesity ORPHA:369837
Acute Disseminated Encephalomyelitis
Diffuse white matter abnormalities, Hypointensity of cerebral white matter on MRI, Abnormal periv... ORPHA:83597
Carnitine-Acylcarnitine Translocase Deficiency
Sudden episodic apnea, Respiratory insufficiency ORPHA:159
Apparent Mineralocorticoid Excess
Polydipsia ORPHA:320
Bilateral Perisylvian Polymicrogyria
Pseudobulbar paralysis, Dysphagia, Apnea, Aspiration ORPHA:98889
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Hip dysplasia, Apnea, Hypoventilation, Central sleep apnea, Dysphagia, High anterior hairline, As... ORPHA:438213
Diethylstilbestrol Syndrome
Small for gestational age, Central apnea ORPHA:1916
Slc39A8-Cdg
Cutaneous syndactyly of toes, Sudden episodic apnea, Failure to thrive in infancy ORPHA:468699
Joubert Syndrome 21
Apnea, Dyspnea OMIM:615636
Nephronophthisis 11
Polydipsia OMIM:613550
Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, And Electrolyte Imbalance
Polydipsia, Salt craving OMIM:612780
Floating-Harbor Syndrome
Cryptorchidism, Growth delay, Epididymal cyst, Small for gestational age, Short stature, Congenit... ORPHA:2044
Whipple Disease
Polydipsia ORPHA:3452
Hereditary Cryohydrocytosis With Reduced Stomatin
Cerebral white matter hypoplasia, Postnatal growth retardation, Intracerebral periventricular cal... ORPHA:168577
Renal Hypoplasia
Polydipsia ORPHA:93101
Nephrogenic Diabetes Insipidus
Polydipsia ORPHA:223
Neurofibromatosis Type 1
Cryptorchidism, Pheochromocytoma, Delayed puberty, Short stature, Precocious puberty, Abnormality... ORPHA:636
Septo-Optic Dysplasia Spectrum
Polydipsia ORPHA:3157
Wolfram Syndrome
Polydipsia, Central apnea, Respiratory insufficiency ORPHA:3463
Williams Syndrome
Cryptorchidism, Hypothyroidism, Patent ductus arteriosus, Cholelithiasis, Polycystic ovaries, Ure... ORPHA:904
Chronic Bilirubin Encephalopathy
Central apnea ORPHA:529808
Acute Bilirubin Encephalopathy
Central apnea ORPHA:529799
Tolchin-Le Caignec Syndrome
Precocious puberty OMIM:618971
Helix Syndrome
Polydipsia OMIM:617671
Pseudoleprechaunism Syndrome, Patterson Type
Premature adrenarche, Increased circulating androgen concentration, Diabetes mellitus ORPHA:2976
Unilateral Polymicrogyria
Pseudobulbar paralysis, Apnea, Epistaxis ORPHA:268943
Pituitary Dermoid And Epidermoid Cysts
Polydipsia ORPHA:91351
Hyperparathyroidism, Neonatal Severe
Polydipsia OMIM:239200
Holoprosencephaly 7
Panhypopituitarism, Fusion of the left and right thalami, Agenesis of corpus callosum OMIM:610828
Alström Syndrome
Decreased circulating T4 level, Elevated circulating thyroid-stimulating hormone concentration, T... ORPHA:64
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome
Abnormal thalamic MRI signal intensity ORPHA:70595
Gitelman Syndrome
Polydipsia, Salt craving OMIM:263800
Kabuki Syndrome 1
Cryptorchidism, Anoperineal fistula, Growth delay, Postnatal growth retardation, Congenital hypot... OMIM:147920
Primary Parathyroid Hyperplasia
Dysphagia, Polydipsia ORPHA:99878
Sponastrime Dysplasia
Hypothyroidism, Rhizomelia, Small for gestational age, Intrauterine growth retardation, Hypospadi... ORPHA:93357
Joubert Syndrome 5
Episodic tachypnea, Central apnea, Neonatal breathing dysregulation OMIM:610188
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia
Hypoplasia of the corpus callosum, Fusion of the left and right thalami, Secondary microcephaly OMIM:619306
Hypomagnesemia 3, Renal
Polydipsia OMIM:248250
Oligomeganephronia
Polydipsia ORPHA:2260
Toxic Epidermal Necrolysis
Dysphagia, Polydipsia ORPHA:537
17Q11 Microdeletion Syndrome
Pheochromocytoma, Recurrent subcortical infarcts, Delayed puberty, Elevated circulating parathyro... ORPHA:97685
Hyperparathyroidism-Jaw Tumor Syndrome
Dysphagia, Polydipsia ORPHA:99880
Infantile Nephropathic Cystinosis
Polydipsia ORPHA:411629
Erdheim-Chester Disease
Polydipsia ORPHA:35687
Parathyroid Carcinoma
Dysphagia, Polydipsia ORPHA:143
Distal Renal Tubular Acidosis
Polydipsia ORPHA:18
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Abnormality of the basal ganglia, Thalamic hemorrhage, Cerebral calcification ORPHA:464321
Cystinosis, Nephropathic
Dysphagia, Polydipsia, Oral-pharyngeal dysphagia OMIM:219800
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Polydipsia ORPHA:93111
Gitelman Syndrome
Polydipsia, Salt craving ORPHA:358
Hypermobile Ehlers-Danlos Syndrome
Apnea, Hip dislocation ORPHA:285
Juvenile Nephropathic Cystinosis
Polydipsia ORPHA:411634
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome