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:
CD246,  Tcrz

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
Chromosome Xq27.3-Q28 Duplication Syndrome
Small for gestational age, Short stature, Cryptorchidism, Increased circulating gonadotropin leve... OMIM:300869
X-Linked Intellectual Disability, Van Esch Type
Hypergonadotropic hypogonadism, Short stature, Cryptorchidism, Increased circulating gonadotropin... ORPHA:163976
Spermatogenic Failure 28
Male infertility, Elevated circulating luteinizing hormone level, Non-obstructive azoospermia, El... OMIM:618086
Pituicytoma
Hypopituitarism, Decreased female libido, Hypogonadotropic hypogonadism, Decreased response to gr... ORPHA:251623
Leptin Receptor Deficiency
Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulati... OMIM:614963
X-Linked Intellectual Disability, Cilliers Type
Hypergonadotropic hypogonadism, Hypospadias, Short stature, Cryptorchidism, Increased circulating... ORPHA:163971
Isolated Follicle Stimulating Hormone Deficiency
Hyperplasia of the Leydig cells, Decreased serum testosterone concentration, Decreased female lib... ORPHA:52901
46,Xy Sex Reversal 11
Abnormal internal genitalia, Elevated circulating luteinizing hormone level, Absence of pubertal ... OMIM:273250
Hypogonadotropic Hypogonadism 25 With Anosmia
Hypothalamic gonadotropin-releasing hormone deficiency, Decreased serum testosterone concentratio... OMIM:618841
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Hypothalamic gonadotropin-releasing hormone deficiency, Decreased serum testosterone concentratio... OMIM:308700
Testes, Rudimentary
Hypergonadotropic hypogonadism, Decreased testicular size, Hypoplastic male external genitalia OMIM:273150
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia
Reduced response to gonadotropin-releasing hormone stimulation test, Decreased serum testosterone... OMIM:616030
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Decreased circulating ... OMIM:228300
49,Xxxyy Syndrome
Eunuchoid habitus, Decreased serum testosterone concentration, External genital hypoplasia, Abnor... ORPHA:261534
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Cryptorchidism, Primar... OMIM:614841
Leydig Cell Hypoplasia
Hypoplasia of the Leydig cells, Male hypogonadism, Micropenis, Abnormal internal genitalia, Hypos... ORPHA:755
Episodic Pain Syndrome, Familial, 3
Abnormal autonomic nervous system physiology OMIM:615552
Spermatogenic Failure, X-Linked, 4
Male infertility, Elevated circulating luteinizing hormone level, Abnormal prolactin level, Azoos... OMIM:301077
Obesity Due To Congenital Leptin Deficiency
Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse... ORPHA:66628
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia
Decreased serum testosterone concentration, Cryptorchidism, Primary amenorrhea, Decreased circula... OMIM:614897
Bdv Syndrome
Decreased thyroid-stimulating hormone level, Decreased serum testosterone concentration, Hypogona... OMIM:619326
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Streak ovary, Abnormality of female external genitalia, Increased circulating gonadotropin level,... ORPHA:168563
Obesity Due To Leptin Receptor Gene Deficiency
Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse... ORPHA:179494
Spermatogenic Failure 57
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Decreased testicular size, Male i... OMIM:619528
Spermatogenic Failure 50
Decreased testicular size, Azoospermia, Spermatogenesis maturation arrest, Male infertility OMIM:619145
Spermatogenic Failure 15
Male infertility, Non-obstructive azoospermia, Abnormal circulating testosterone concentration, S... OMIM:616950
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Decreased circulating cortisol level, Ambiguous genitalia, female, Ambiguous genitalia, male, Inc... ORPHA:90791
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Bifid scrotum, Decreased circulating cortisol level, Bilateral cryptorchidism, Blind vagina, Ambi... ORPHA:90793
Spermatogenic Failure 77
Male infertility, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Abnormal circulati... OMIM:620103
Spermatogenic Failure 2
Male infertility, Non-obstructive azoospermia, Oligozoospermia, Abnormal circulating testosterone... OMIM:108420
Isochromosomy Yp
Male infertility, Azoospermia, Primary gonadal insufficiency, Ambiguous genitalia, Decreased test... ORPHA:98797
Polyendocrine-Polyneuropathy Syndrome
Decreased testicular size, Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Postnata... ORPHA:453533
Delayed Puberty, Self-Limited
Hypogonadotropic hypogonadism, Decreased circulating luteinizing hormone level, Decreased circula... OMIM:619613
49,Xyyyy Syndrome
Eunuchoid habitus, External genital hypoplasia, Abnormality of the testis size, Increased circula... ORPHA:99330
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Hypoplasia of the vagina, Dysmenorrhea, Ambiguous genitalia, male, Decreased serum estradiol, Dec... ORPHA:90796
Normosmic Congenital Hypogonadotropic Hypogonadism
Eunuchoid habitus, Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Fem... ORPHA:432
Dysautonomia-Like Disorder
Abnormal autonomic nervous system physiology OMIM:224000
Sim1-Related Prader-Willi-Like Syndrome
Small scrotum, External genital hypoplasia, Xerostomia, Clitoral hypoplasia, Premature adrenarche... ORPHA:398079
46,Xy Partial Gonadal Dysgenesis
Hypoplasia of the vagina, Hypoplasia of penis, Vanishing testis, Decreased serum estradiol, Micro... ORPHA:251510
Partial Chromosome Y Deletion
Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato... ORPHA:1646
Orthostatic Intolerance
Orthostatic tachycardia OMIM:604715
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Non-obstructive azoospermia, Increased circulating gonadotropin level, Abnormal spermatogenesis, ... ORPHA:399805
Spermatogenic Failure, X-Linked, 2
Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest OMIM:309120
Isochromosomy Yq
Decreased testicular size, Male infertility, Gonadal tissue inappropriate for external genitalia ... ORPHA:98798
Precocious Puberty, Male-Limited
Decreased testicular size, Precocious puberty in males OMIM:176410
Kallmann Syndrome With Spastic Paraplegia
Hypothalamic gonadotropin-releasing hormone deficiency, Eunuchoid habitus, Hypogonadotropic hypog... OMIM:308750
Spermatogenic Failure 14
Male infertility, Abnormal circulating testosterone concentration, Azoospermia, Abnormal prolacti... OMIM:615842
Hypogonadotropic Hypogonadism 11 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Absence of pubertal developmen... OMIM:614840
Testicular Agenesis
Decreased serum testosterone concentration, Abnormal vas deferens morphology, Urethrovaginal fist... ORPHA:325124
Hypogonadism, Male
Male hypogonadism, Micropenis, Hypospadias, Testicular atrophy OMIM:241100
Spermatogenic Failure 25
Non-obstructive azoospermia, Male infertility, Decreased testicular size, Cryptozoospermia OMIM:617960
Hypogonadotropic Hypogonadism 10 With Or Without Anosmia
Hypogonadotropic hypogonadism, Primary amenorrhea, Decreased circulating luteinizing hormone leve... OMIM:614839
Central Precocious Puberty In Male
Abnormality of the testis size, Pituitary microadenoma, Hypothalamic hamartoma, Abnormal response... ORPHA:649929
Ane Syndrome
Decreased serum insulin-like growth factor 1, Hypogonadotropic hypogonadism, Anterior pituitary h... ORPHA:157954
Non-Acquired Combined Pituitary Hormone Deficiency-Sensorineural Hearing Loss-Spine Abnormalities Syndrome
Short stature, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplas... ORPHA:231720
Functioning Gonadotropic Adenoma
Decreased response to growth hormone stimulation test, Pituitary gonadotropic cell adenoma, Isose... ORPHA:91348
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome
Eunuchoid habitus, Elevated circulating luteinizing hormone level, Breast aplasia, Elevated circu... ORPHA:3044
Magel2-Related Prader-Willi-Like Syndrome
Small scrotum, External genital hypoplasia, Xerostomia, Increased body weight, Clitoral hypoplasi... ORPHA:398069
Craniopharyngioma
Enlarged pituitary gland, Hypogonadotropic hypogonadism, Neoplasm of the anterior pituitary, Prop... ORPHA:54595
46,Xx Sex Reversal 2
Bifid scrotum, Hypoplasia of the vagina, Decreased serum testosterone concentration, Small scrotu... OMIM:278850
Ravine Syndrome
Failure to thrive, Apnea, Anorexia, Decreased body weight ORPHA:99852
Familial Peripheral Male-Limited Precocious Puberty
Male infertility, Precocious puberty, Long penis, Oligozoospermia, Macroorchidism ORPHA:3000
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Streak ovary, Hypergonadotropic hypogonadism, Non-obstructive azoospermia, Cryptorchidism, Increa... ORPHA:2232
Aganglionosis, Total Intestinal
Total intestinal aganglionosis OMIM:202550
Aarskog-Scott Syndrome
Short stature, Elevated circulating luteinizing hormone level, Bilateral cryptorchidism, Cryptorc... OMIM:305400
Spermatogenic Failure 63
Male infertility, Reduced progressive sperm motility, Decreased testicular size, Oligozoospermia OMIM:619689
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Short stature, Hypogonadism, Decreased serum testosterone concentration, Failure to thrive, Decre... OMIM:201100
Microduplication Xp11.22P11.23 Syndrome
Precocious puberty, Obesity ORPHA:217377
Panhypophysitis
Decreased circulating cortisol level, Decreased female libido, Reduced circulating prolactin conc... ORPHA:95513
Precocious Puberty, Central, 2
Premature thelarche, Premature pubarche OMIM:615346
Adenohypophysitis
Decreased circulating cortisol level, Decreased female libido, Reduced circulating prolactin conc... ORPHA:95512
Spinocerebellar Ataxia 32
Azoospermia, Testicular atrophy, Infertility OMIM:613909
Complete Androgen Insensitivity Syndrome
Male infertility, Abnormal uterine cervix morphology, Testicular neoplasm, Elevated circulating l... ORPHA:99429
Testicular Regression Syndrome
Decreased testicular size, Abnormal male internal genitalia morphology, Hypoplasia of penis, Male... ORPHA:983
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Non-obstructive azoospermia, Abnormal sperm tail morphology, Increased circulating gonadotropin l... ORPHA:399808
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4B
Neonatal death, Apnea OMIM:615228
Polyembryoma
Abnormal circulating gonadotropin concentration, Isosexual precocious puberty, Abnormality of the... ORPHA:180229
Temple Syndrome
Small for gestational age, Decreased response to growth hormone stimulation test, Short stature, ... ORPHA:254516
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Decreased circulating cortisol level, Premature thelarche, Ambiguous genitalia, female, Premature... ORPHA:90795
Spinocerebellar Ataxia Type 32
Male infertility, Azoospermia, Testicular atrophy ORPHA:276183
Cortisone Reductase Deficiency 1
Precocious puberty, Obesity, Infertility, Oligomenorrhea OMIM:604931
Pseudohypoaldosteronism, Type Iic
Hyperchloremia, Hyperkalemia, Decreased circulating renin level OMIM:614492
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related
Death in infancy, Respiratory failure, Apnea, Respiratory insufficiency OMIM:613869
Partial Androgen Insensitivity Syndrome
Bifid scrotum, Fused labia majora, Bilateral cryptorchidism, Blind vagina, Increased circulating ... ORPHA:90797
Progeria-Short Stature-Pigmented Nevi Syndrome
Neoplasm of the pancreas, Decreased serum testosterone concentration, Premature ovarian insuffici... ORPHA:2959
Cortisone Reductase Deficiency 2
Obesity, Premature pubarche OMIM:614662
Leukoencephalopathy With Dystonia And Motor Neuropathy
Azoospermia, Focal T2 hyperintense thalamic lesion, Hypergonadotropic hypogonadism OMIM:613724
Bronchopulmonary Dysplasia
Respiratory distress, Central apnea, Respiratory failure requiring assisted ventilation, Small fo... ORPHA:70589
Symptomatic Form Of Hfe-Related Hemochromatosis
Diabetes mellitus, Hypogonadotropic hypogonadism, Testicular atrophy, Weight loss, Infertility, E... ORPHA:465508
46,Xx Testicular Difference Of Sex Development
Ambiguous genitalia, Male hypogonadism, Decreased testicular size, Polycystic ovaries ORPHA:393
Pseudohypoaldosteronism, Type Iib
Hyperchloremia, Hyperkalemia OMIM:614491
Pseudohypoaldosteronism, Type Iid
Hyperchloremia, Hyperkalemia OMIM:614495
45,X/46,Xy Mixed Gonadal Dysgenesis
Bifid scrotum, Bilateral cryptorchidism, Epispadias, Ambiguous genitalia, female, Ambiguous genit... ORPHA:1772
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Short stat... ORPHA:2235
Leptin Deficiency Or Dysfunction
Decreased serum leptin, Obesity, Primary amenorrhea, Hypogonadism, Micropenis, Decreased testicul... OMIM:614962
Myasthenic Syndrome, Congenital, 6, Presynaptic
Respiratory distress, Sudden episodic apnea, Respiratory insufficiency due to muscle weakness, Ap... OMIM:254210
Meningioma
Enlarged pituitary gland, Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Re... ORPHA:2495
Woodhouse-Sakati Syndrome
Decreased serum testosterone concentration, Streak ovary, Hypoplasia of the fallopian tube, Decre... ORPHA:3464
Krabbe Disease, Atypical, Due To Saposin A Deficiency
Central apnea, Death in infancy, Respiratory failure, Respiratory insufficiency OMIM:611722
Adrenal Hypoplasia, Congenital
Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Adrenal hypoplasia, Precocio... OMIM:300200
Kennedy Disease
Type II diabetes mellitus, Testicular atrophy, Decreased fertility, Erectile dysfunction ORPHA:481
Non-Functioning Pituitary Adenoma
Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio... ORPHA:91349
Gonadoblastoma
Female external genitalia in individual with 46,XY karyotype, Gonadal calcification, Increased se... ORPHA:206484
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Decreased circulating cortisol level, Precocious puberty, Cryptorchidism, Abnormal circulating re... OMIM:614736
2Q24 Microdeletion Syndrome
Central apnea, Toe syndactyly, Small for gestational age, Camptodactyly of finger, Long fingers, ... ORPHA:1617
Pseudohypoaldosteronism, Type Iie
Hyperchloremia, Hyperkalemia OMIM:614496
Ring Chromosome Y Syndrome
Bifid scrotum, Ambiguous genitalia, female, Ambiguous genitalia, male, Abnormality of the male ge... ORPHA:261529
Surfactant Metabolism Dysfunction, Pulmonary, 1
Death in infancy, Neonatal respiratory distress, Apnea, Dyspnea, Tachypnea, Clubbing, Respiratory... OMIM:265120
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia
Elevated circulating luteinizing hormone level, Primary amenorrhea, Decreased circulating follicl... OMIM:229070
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Respiratory distress, Sudden episodic apnea, Respiratory insufficiency due to muscle weakness, Ap... OMIM:605809
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Decreased circulating cortisol level, Adrenal hypoplasia, Sex reversal, Ambiguous genitalia, male... ORPHA:168558
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasia, Sex reversal, Am... ORPHA:289548
Autosomal Recessive Spastic Paraplegia Type 26
Decreased serum testosterone concentration, Premature ovarian insufficiency ORPHA:101006
Precocious Puberty, Central, 1
Short stature, Elevated circulating luteinizing hormone level, Isosexual precocious puberty, Elev... OMIM:176400
Severe Neurodevelopmental Disorder With Feeding Difficulties-Stereotypic Hand Movement-Bilateral Cataract
Failure to thrive, Apneic episodes in infancy, Stereotypical hand wringing ORPHA:500545
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome
Interhypothalamic adhesion, Cryptorchidism, Micropenis, Supernumerary nipple OMIM:618929
Stuve-Wiedemann Syndrome 2
Respiratory distress, Bowing of the long bones, Death in adolescence, Short long bone, Stillbirth... OMIM:619751
Sudden Infant Death Syndrome
Apneic episodes in infancy OMIM:272120
Ceroid Lipofuscinosis, Neuronal, 10
Apnea, Split hand, Respiratory insufficiency, Respiratory failure, Neonatal death OMIM:610127
Premature Ovarian Failure 21
Streak ovary, Precocious puberty in females, Primary amenorrhea, Secondary amenorrhea, Decreased ... OMIM:620311
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Hypoplasia of the vagina, Clitoral hypertrophy, Short stature, Congenital adrenal hyperplasia, Am... OMIM:202010
Congenital Myopathy 14
Death in infancy, Hip contracture, Apnea, Respiratory insufficiency due to muscle weakness, Respi... OMIM:618414
Hypogonadotropic Hypogonadism 7 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Infertility, Micropenis, Decre... OMIM:146110
Spastic Paraplegia-Precocious Puberty Syndrome
Hyperplasia of the Leydig cells, Precocious puberty in males ORPHA:2826
Methemoglobinemia And Ambiguous Genitalia
Bifid scrotum, Scrotal hypospadias, Hypospadias, Elevated circulating luteinizing hormone level, ... OMIM:250790
Thyrotropin-Releasing Hormone Deficiency
Hypothalamic hypothyroidism, Hypothyroidism, Short stature OMIM:275120
46,Xy Difference Of Sex Development Due To 17-Beta-Hydroxysteroid Dehydrogenase 3 Deficiency
Hypogonadotropic hypogonadism, Cryptorchidism, Male pseudohermaphroditism, Infertility, Ambiguous... ORPHA:752
Neurodevelopmental Disorder With Language Delay And Seizures
Growth delay, Cryptorchidism, Hypothyroidism, Hypothalamic hamartoma OMIM:619908
Pituitary Deficiency Due To Empty Sella Turcica Syndrome
Decreased response to growth hormone stimulation test, Precocious puberty, Pituitary adenoma, Adr... ORPHA:91354
Prolactin Deficiency With Obesity And Enlarged Testes
Macroorchidism, Obesity, Reduced circulating prolactin concentration OMIM:264120
Woodhouse-Sakati Syndrome
Decreased serum testosterone concentration, Decreased serum insulin-like growth factor 1, Prematu... OMIM:241080
Phosphoserine Aminotransferase Deficiency
Death in infancy, Apnea OMIM:610992
47,Xyy Syndrome
Male infertility, Hypospadias, Cryptorchidism, Increased circulating gonadotropin level, Oligozoo... ORPHA:8
46,Xy Complete Gonadal Dysgenesis
Male pseudohermaphroditism, Hypogonadotropic hypogonadism, Testicular dysgenesis, Polycystic ovaries ORPHA:242
Pandas
Anorexia, Impulsivity, Abnormal fear-induced behavior, Depression, Irritability, Tics, Attention ... ORPHA:66624
Laryngotracheal Angioma
Respiratory distress, Intercostal retractions, Apnea, Wheezing, Stridor, Cough ORPHA:137935
Butyrylcholinesterase Deficiency
Apnea OMIM:617936
Surfactant Metabolism Dysfunction, Pulmonary, 3
Respiratory distress, Death in infancy, Neonatal respiratory distress, Nonspecific interstitial p... OMIM:610921
Hirschsprung Disease, Susceptibility To, 3
Total colonic aganglionosis, Aganglionic megacolon, Long-segment aganglionic megacolon OMIM:613711
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome
Precocious puberty, Hypergonadotropic hypogonadism, Polycystic ovaries ORPHA:2229
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome
Eunuchoid habitus, Hypoplasia of penis, Small scrotum, Short stature, Abnormality of the thyroid ... ORPHA:2234
Hirschsprung Disease, Susceptibility To, 2
Aganglionic megacolon OMIM:600155
Hirschsprung Disease, Susceptibility To, 5
Aganglionic megacolon OMIM:600156
Hirschsprung Disease, Susceptibility To, 4
Aganglionic megacolon OMIM:613712
46,Xy Sex Reversal 1
Abnormality of male external genitalia, Hypergonadotropic hypogonadism, Elevated circulating lute... OMIM:400044
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia
Diabetes mellitus, Hypogonadotropic hypogonadism, Cryptorchidism, Obesity, Primary amenorrhea, Ab... OMIM:610628
Ovarian Dysgenesis 4
Short stature, Primary amenorrhea, Decreased serum estradiol, Elevated circulating follicle stimu... OMIM:616185
Post-Traumatic Pituitary Deficiency
Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Decreased c... ORPHA:95619
Renal Glucosuria
Polydipsia, Polyphagia OMIM:233100
Temple Syndrome
Small for gestational age, Short stature, Maturity-onset diabetes of the young, Precocious pubert... OMIM:616222
Kallmann Syndrome
Hypothalamic gonadotropin-releasing hormone deficiency, Dyspareunia, Hypoplasia of penis, Hypogon... ORPHA:478
Hidrotic Ectodermal Dysplasia
Slow-growing nails, Absent pubic hair, Sparse hair, Absent eyebrow, Alopecia, Brittle scalp hair,... ORPHA:189
Myasthenic Syndrome, Congenital, 24, Presynaptic
Camptodactyly, Apnea, Respiratory insufficiency, Dysphagia OMIM:618198
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency
Bifid scrotum, Adrenal hyperplasia, Hypospadias, Scrotal hypospadias, Cryptorchidism, Male pseudo... OMIM:201810
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Fused labia majora, Decreased circulating cortisol level, Ambiguous genitalia, female, Abnormal o... ORPHA:90794
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Testicular atrophy, Decreased fertility OMIM:313200
Ovarian Dysgenesis 9
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Primary amenorrh... OMIM:619665
Mitochondrial Complex I Deficiency, Nuclear Type 13
Death in infancy, Failure to thrive, Apnea OMIM:618235
Hypogonadotropic Hypogonadism 14 With Or Without Anosmia
Cryptorchidism, Hypogonadotropic hypogonadism, Decreased testicular size, Primary amenorrhea OMIM:614858
Myoclonus, Intractable, Neonatal
Impaired oral bolus formation, Apnea, Dysphagia OMIM:617235
Temple Syndrome Due To Paternal 14Q32.2 Microdeletion
Precocious puberty, Intrauterine growth retardation, Postnatal growth retardation, Obesity ORPHA:254525
Joubert Syndrome 23
Polydactyly, Tachypnea, Apnea OMIM:616490
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Endometrial carcinoma, Decreased circulating cortisol level, Adrenal hyperplasia, Male pseudoherm... ORPHA:90790
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Death in infancy, Respiratory failure, Apnea OMIM:616277
17-Beta Hydroxysteroid Dehydrogenase Iii Deficiency
Male pseudohermaphroditism, Hypothyroidism, Infertility, Female external genitalia in individual ... OMIM:264300
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Small for gestational age, Short stature, Maturity-onset diabetes of the young, Precocious pubert... ORPHA:96184
Seizures, Benign Familial Infantile, 3
Apnea OMIM:607745
Premature Ovarian Failure 10
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Primary amenorrh... OMIM:612885
Mitochondrial Complex I Deficiency, Nuclear Type 33
Apnea, Small for gestational age, Bronchiectasis, Respiratory insufficiency, Aspiration pneumonia... OMIM:618253
46,Xx Sex Reversal 5
Ambiguous genitalia, Urogenital sinus anomaly, Increased serum testosterone level OMIM:618901
Mitochondrial Complex I Deficiency, Nuclear Type 5
Failure to thrive, Apnea, Respiratory insufficiency, Dysphagia OMIM:618226
Pontocerebellar Hypoplasia Type 4
Central apnea, Respiratory failure requiring assisted ventilation ORPHA:166063
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies
Hyperextensibility of the finger joints, Congenital hip dislocation, Apnea, Frontal upsweep of ha... OMIM:619797
Seizures, Benign Familial Infantile, 1
Apnea OMIM:601764
Ovarian Dysgenesis 7
Elevated circulating luteinizing hormone level, Primary amenorrhea, Hypoplasia of the uterus, Dec... OMIM:618117
Encephalopathy, Neonatal Severe, Due To Mecp2 Mutations
Failure to thrive, Apnea, Central hypoventilation, Respiratory insufficiency OMIM:300673
Atypical Rett Syndrome
Restrictive behavior, Sudden episodic apnea, Episodic tachypnea, Tongue thrusting, Small hand, Sh... ORPHA:3095
Ovarian Dysgenesis 8
Eunuchoid habitus, Elevated circulating luteinizing hormone level, Primary amenorrhea, Hypoplasti... OMIM:618187
Ovarian Dysgenesis 10
Streak ovary, Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Pr... OMIM:619834
Hypophosphatasia, Infantile
Death in infancy, Apnea, Anorexia, Bowing of the legs, Stillbirth, Metaphyseal cupping, Failure t... OMIM:241500
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Maturity-onset diabetes of the young, Precocious puberty, Postnatal growth retardation, Obesity, ... ORPHA:254531
Androgen Insensitivity, Partial
Bifid scrotum, Absent vas deferens, Cryptorchidism, Male pseudohermaphroditism, Perineal hypospad... OMIM:312300
Ovarian Fibrothecoma
Ovarian fibroma, Metrorrhagia, Abnormal endometrium morphology, Abnormal circulating hormone conc... ORPHA:314478
46,Xy Sex Reversal 8
Sex reversal, Cryptorchidism, Male pseudohermaphroditism, Ambiguous genitalia OMIM:614279
Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes
Short stature, Secondary amenorrhea, Premature pubarche OMIM:612847
Pontocerebellar Hypoplasia, Type 6
Failure to thrive, Apnea, Death in childhood OMIM:611523
Ovarian Dysgenesis 5
Short stature, Elevated circulating luteinizing hormone level, Primary amenorrhea, Hypoplasia of ... OMIM:617690
Generalized Glucocorticoid Resistance Syndrome
Increased urinary cortisol level, Adrenal hyperplasia, Precocious puberty, Increased circulating ... ORPHA:786
Severe Neonatal-Onset Encephalopathy With Microcephaly
Apnea, Respiratory insufficiency ORPHA:209370
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Absence of pubertal developmen... OMIM:614837
Primary Pulmonary Hypoplasia
Neonatal respiratory distress, Apnea, Asthma, Tachypnea, Pneumothorax, Patellar hypoplasia, Hypox... ORPHA:2257
Neurodevelopmental Disorder With Poor Language And Loss Of Hand Skills
Apnea, Small hand, Short foot, Agitation, Bruxism, Recurrent hand flapping, Hyperventilation OMIM:617903
Mitochondrial Complex I Deficiency, Nuclear Type 6
Failure to thrive, Apnea, Respiratory insufficiency OMIM:618228
Duplication Of The Pituitary Gland
Abnormal hypothalamus morphology, Abnormal pituitary gland morphology, Short stature, Decreased b... ORPHA:314621
Maternal Uniparental Disomy Of Chromosome 6
Hydrocele testis, Increased serum testosterone level, Intrauterine growth retardation, Congenital... ORPHA:96181
48,Xxyy Syndrome
Apnea, Asthma, Obesity, Abnormal shoulder morphology, Radioulnar synostosis, Hip dysplasia, Atten... ORPHA:10
Type 1 Diabetes Mellitus
Polydipsia, Polyphagia OMIM:222100
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Failure to thrive, Apnea OMIM:619048
X-Linked Intellectual Disability-Macrocephaly-Macroorchidism Syndrome
Macroorchidism ORPHA:85320
Stuve-Wiedemann Syndrome 1
Apnea, Femoral bowing, Tibial bowing, Blotching pigmentation of the skin, Sparse hair, Short tibi... OMIM:601559
Müllerian Aplasia And Hyperandrogenism
Short stature, Obesity, Primary amenorrhea, Hypoplasia of the uterus, Increased serum testosteron... ORPHA:247768
Combined Oxidative Phosphorylation Deficiency 57
Death in infancy, Apnea, Central hypoventilation, Small for gestational age, Neonatal death OMIM:620167
Myasthenic Syndrome, Congenital, 16
Apnea OMIM:614198
Familial Glucocorticoid Deficiency
Decreased circulating dehydroepiandrosterone concentration, Decreased circulating cortisol level,... ORPHA:361
Nemaline Myopathy 2
Respiratory insufficiency due to muscle weakness, Apnea, Slender build, Dysphagia OMIM:256030
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Small for gestational age, Short stature, Precocious puberty, Insulin-resistant diabetes mellitus... OMIM:262190
Bone Marrow Failure Syndrome 5
Hypogonadism, Growth delay, Testicular atrophy, Short stature OMIM:618165
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Hyperactivity, Broad-based gait, Anorexia, Aggressive behavior, Abnormal fear-induced behavior, I... ORPHA:3077
Dystonia 30
Hypothalamic hamartoma OMIM:619291
Bartter Syndrome, Type 5, Antenatal, Transient
Hyponatremia, Hypokalemia, Increased circulating renin level, Hypochloremia OMIM:300971
Mitochondrial Complex I Deficiency, Nuclear Type 4
Apnea, Death in childhood OMIM:618225
Estrogen Resistance Syndrome
Enlarged polycystic ovaries, Increased circulating gonadotropin level, Absence of secondary sex c... ORPHA:785
Glutamine Deficiency, Congenital
Neonatal death, Neonatal respiratory distress, Apnea, Camptodactyly OMIM:610015
Juvenile Neuronal Ceroid Lipofuscinosis
Apnea, Episodic tachypnea, Pigmentary retinopathy, Aspiration pneumonia, Dysphagia, Abnormal repe... ORPHA:79264
Adrenocortical Carcinoma
Increased urinary cortisol level, Diabetes mellitus, Paradoxical increased cortisol secretion on ... ORPHA:1501
Epilepsy, Early-Onset, 1, Vitamin B6-Dependent
Apnea, Respiratory insufficiency OMIM:617290
Congenital Neuronal Ceroid Lipofuscinosis
Neonatal respiratory distress, Split hand, Apnea, Respiratory failure ORPHA:168486
Developmental And Epileptic Encephalopathy 61
Apnea OMIM:617933
Mccune-Albright Syndrome
Hyperplasia of the Leydig cells, Hyperthyroidism, Primary hypercortisolism, Elevated circulating ... ORPHA:562
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Small scrotum, External genital hypoplasia, Decreased response to growth hormone stimulation test... ORPHA:98754
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Abnormal fear-induced behavior, Pseudobulbar paralysis, Aggressive behavior ORPHA:208441
Spastic Paraplegia 26, Autosomal Recessive
Decreased serum testosterone concentration OMIM:609195
Joubert Syndrome 33
Syndactyly, Apnea OMIM:617767
Persistent Müllerian Duct Syndrome
Cryptorchidism, Male pseudohermaphroditism ORPHA:2856
Frasier Syndrome
Streak ovary, Hypergonadotropic hypogonadism, Male pseudohermaphroditism, Increased circulating g... ORPHA:347
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome
Cryptorchidism, Premature pubarche ORPHA:457205
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia
Cryptorchidism, Primary amenorrhea, Small pituitary gland, Micropenis, Decreased testicular size OMIM:614880
Joubert Syndrome 7
Central apnea, Episodic tachypnea, Postaxial polydactyly, Postaxial hand polydactyly, Tachypnea, ... OMIM:611560
Premature Ovarian Failure 8
Streak ovary, Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Pr... OMIM:615723
Polyendocrine-Polyneuropathy Syndrome
Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Short stature, Postnatal growth ret... OMIM:616113
Mitochondrial Complex I Deficiency, Nuclear Type 14
Apnea OMIM:618236
Joubert Syndrome 30
Postaxial hand polydactyly, Tachypnea, Apnea OMIM:617622
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Small scrotum, External genital hypoplasia, Decreased response to growth hormone stimulation test... ORPHA:98793
Mitochondrial Complex I Deficiency, Nuclear Type 10
Respiratory failure, Apnea, Central hypoventilation, Dysphagia OMIM:618233
Global Developmental Delay With Speech And Behavioral Abnormalities
Precocious puberty, Cryptorchidism, Supernumerary nipple OMIM:619243
Central Hypoventilation Syndrome, Congenital, 3
Respiratory failure, Apnea, Central hypoventilation OMIM:619483
Pituitary Gigantism
Elevated circulating growth hormone concentration, Amenorrhea, Hyperhidrosis, Increased circulati... ORPHA:99725
Dystonia 28
Precocious puberty, Hypothyroidism, Short stature ORPHA:589618
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Small scrotum, External genital hypoplasia, Decreased response to growth hormone stimulation test... ORPHA:177904
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Small scrotum, External genital hypoplasia, Decreased response to growth hormone stimulation test... ORPHA:177901
Hereditary Sensory And Autonomic Neuropathy Due To Tecpr2 Mutation
Central apnea, Low anterior hairline ORPHA:320385
Septopreoptic Holoprosencephaly
Precocious puberty, Anterior hypopituitarism, Central diabetes insipidus ORPHA:280195
Auriculocondylar Syndrome 2A
Respiratory distress, Apnea OMIM:614669
Neuropathy, Hereditary Sensory And Autonomic, Type Ix, With Developmental Delay
Central apnea, Low anterior hairline OMIM:615031
Intellectual Developmental Disorder, Autosomal Recessive 76
Precocious puberty in females OMIM:619931
Glucocorticoid Resistance, Generalized
Irregular menstruation, Increased circulating ACTH level, Increased circulating cortisol level, I... OMIM:615962
46,Xy Sex Reversal 10
Bifid scrotum, Small scrotum, Hypospadias, Ovotestis, Testicular dysgenesis, Perineal hypospadias... OMIM:616425
Hemochromatosis, Type 1
Diabetes mellitus, Hypogonadotropic hypogonadism, Azoospermia, Impotence, Testicular atrophy, Ame... OMIM:235200
Benign Familial Neonatal Epilepsy
Apnea ORPHA:1949
Premature Ovarian Failure 17
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Decreased inhibi... OMIM:619146
Malignant Migrating Focal Seizures Of Infancy
Precocious puberty, Failure to thrive ORPHA:293181
Silver-Russell Syndrome
Abnormality of male external genitalia, Hypospadias, Failure to thrive in infancy, Cachexia, Shor... ORPHA:813
Mccune-Albright Syndrome
Hyperparathyroidism, Hyperthyroidism, Elevated circulating growth hormone concentration, Precocio... OMIM:174800
Acquired Central Diabetes Insipidus
Polydipsia ORPHA:95626
Hypoadrenocorticism, Familial
Abnormality of skin pigmentation, Apnea OMIM:240200
Combined Oxidative Phosphorylation Deficiency 51
Severe short stature, Small for gestational age, Growth delay, Focal T2 hyperintense thalamic les... OMIM:619057
Rett Syndrome
Apnea, Intermittent hyperventilation, Cachexia, Short foot, Bruxism, Stereotypical hand wringing OMIM:312750
46,Xx Gonadal Dysgenesis
Streak ovary, Premature ovarian insufficiency, Short stature, Increased circulating gonadotropin ... ORPHA:243
Robinow Syndrome
Decreased serum testosterone concentration, Small scrotum, Small for gestational age, External ge... ORPHA:97360
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Restlessness, Apnea, Small hand, Obesity, Bruxism OMIM:300055
Pontocerebellar Hypoplasia, Type 16
Apnea, Dysphagia OMIM:619527
Peroxisome Biogenesis Disorder 11A (Zellweger)
Failure to thrive, Apnea OMIM:614883
Perrault Syndrome 4
Premature ovarian insufficiency, Increased circulating gonadotropin level, Obesity, Secondary ame... OMIM:615300
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Fused labia majora, Decreased circulating cortisol level, Adrenal hyperplasia, Decreased circulat... ORPHA:95699
Myotonic Dystrophy 1
Hypogonadism, Cholelithiasis, Testicular atrophy OMIM:160900
Diarrhea 1, Secretory Chloride, Congenital
Hyponatremia, Hypokalemia, Increased circulating renin level, Hypochloremia OMIM:214700
Inverted Duplicated Chromosome 15 Syndrome
Precocious puberty, Cryptorchidism, Growth delay, Gonadal dysgenesis, Hypogonadism ORPHA:3306
Kleine-Levin Syndrome
Abnormal eating behavior, Repetitive compulsive behavior, Sweet craving, Hypersexuality, Agitatio... ORPHA:33543
Prader-Willi Syndrome
Small scrotum, External genital hypoplasia, Decreased response to growth hormone stimulation test... ORPHA:739
Pontocerebellar Hypoplasia Type 2
Impaired oropharyngeal swallow response, Apnea, Oral-pharyngeal dysphagia ORPHA:2524
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Testicular atrophy OMIM:601163
Benign Familial Infantile Epilepsy
Apnea ORPHA:306
Pallister-Hall-Like Syndrome
Micropenis, Short stature, Anterior hypopituitarism, Hypothalamic hamartoma OMIM:241800
Pigmented Nodular Adrenocortical Disease, Primary, 1
Increased urinary cortisol level, Decreased circulating dehydroepiandrosterone concentration, Pig... OMIM:610489
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia
Hypogonadotropic hypogonadism, Decreased circulating luteinizing hormone level, Hypoplasia of the... OMIM:614842
Benign Familial Neonatal-Infantile Seizures
Apnea ORPHA:140927
Pyruvate Dehydrogenase E1-Alpha Deficiency
Respiratory failure, Small for gestational age, Apneic episodes precipitated by illness, fatigue,... OMIM:312170
Folinic Acid-Responsive Seizures
Respiratory distress, Apnea ORPHA:79097
Microcephaly, Postnatal Progressive, With Seizures And Brain Atrophy
Failure to thrive, Decreased thalamic volume OMIM:613668
Hereditary Central Diabetes Insipidus
Polydipsia ORPHA:30925
Glass Syndrome
Restlessness, Hyperactivity, Apnea, Anterior tibial bowing, Arachnodactyly, Aggressive behavior, ... OMIM:612313
Fatal Familial Insomnia
Weight loss, Apnea, Dysphagia OMIM:600072
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type
Precocious puberty, Decreased body weight OMIM:300958
Myasthenic Syndrome, Congenital, 20, Presynaptic
Stridor, Hypoventilation, Apnea, Dysphagia OMIM:617143
Joubert Syndrome 9
Apnea, Episodic tachypnea OMIM:612285
Classic Glucose Transporter Type 1 Deficiency Syndrome
Central apnea ORPHA:71277
Developmental And Epileptic Encephalopathy 99
Central apnea, Hip dysplasia OMIM:619606
Wieacker-Wolff Syndrome
Neonatal respiratory distress, Apnea, Proximal placement of thumb, Hip dislocation, Camptodactyly... OMIM:314580
Developmental And Epileptic Encephalopathy 39 With Leukodystrophy
Frontal hirsutism, Apnea, Generalized hirsutism, Tapered finger OMIM:612949
Glycine Encephalopathy With Normal Serum Glycine
Hip contracture, Overlapping toe, Apnea, Hip dislocation, Respiratory failure, Long eyelashes, Dy... OMIM:617301
Congenital Myopathy 11
Neonatal respiratory distress, Apneic episodes in infancy OMIM:619967
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome
Hypospadias, Cryptorchidism, Hypoplastic labia minora, Absence of labia majora, Absent scrotum, D... ORPHA:495875
Marshall-Smith Syndrome
Brittle hair, Apnea, Synophrys, Distal widening of metacarpals, Coxa vara, Aspiration pneumonia, ... OMIM:602535
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Apneic episodes in infancy, Episodic tachypnea, Dysphagia ORPHA:163961
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency
Adrenal hyperplasia, Male pseudohermaphroditism, Adrenogenital syndrome, Primary amenorrhea, Ambi... OMIM:202110
Plaa-Associated Neurodevelopmental Disorder
Hyperextensibility of the finger joints, Apnea, Rocker bottom foot, Long fingers, Postaxial hand ... ORPHA:521426
Dyskeratosis Congenita, Autosomal Recessive 2
Growth delay, Testicular atrophy OMIM:613987
Mullerian Aplasia And Hyperandrogenism
Abnormal external genitalia, Increased circulating dehydroepiandrosterone-sulfate concentration, ... OMIM:158330
Senior-Loken Syndrome 4
Polydipsia OMIM:606996
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Apnea, Cardiorespiratory arrest, Stridor, Bronchospasm, Abnormal pattern of respiration OMIM:608800
Joubert Syndrome 3
Central apnea, Episodic tachypnea, Highly arched eyebrow, Pigmentary retinopathy, Neonatal breath... OMIM:608629
Peroxisome Biogenesis Disorder 2A (Zellweger)
Apnea, Brushfield spots, Metatarsus adductus, Death in childhood, Pigmentary retinopathy, Camptod... OMIM:214110
Myotonia Fluctuans
Stridor, Apnea, Choking episodes ORPHA:99734
Rabson-Mendenhall Syndrome
Increased pineal volume, Enlarged ovaries, Short stature, Precocious puberty, Insulin-resistant d... ORPHA:769
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome
Precocious puberty ORPHA:457260
Steinert Myotonic Dystrophy
Endometrial carcinoma, Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased response to g... ORPHA:273
Gaucher Disease, Type Ii
Death in infancy, Apnea, Cough, Stridor, Dysphagia, Failure to thrive, Recurrent aspiration pneum... OMIM:230900
Semilobar Holoprosencephaly
Diabetes insipidus, Decreased response to growth hormone stimulation test, Short stature, Abnorma... ORPHA:220386
Alobar Holoprosencephaly
Diabetes insipidus, Decreased response to growth hormone stimulation test, Short stature, Abnorma... ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Diabetes insipidus, Decreased response to growth hormone stimulation test, Short stature, Abnorma... ORPHA:93926
Lobar Holoprosencephaly
Diabetes insipidus, Decreased response to growth hormone stimulation test, Short stature, Abnorma... ORPHA:93924
Aromatase Deficiency
Macroorchidism, postpubertal, Male infertility, Eunuchoid habitus, Hypergonadotropic hypogonadism... ORPHA:91
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Respiratory distress, Hypoventilation, Apnea, Recurrent pneumonia, Polydactyly, Aspiration pneumo... ORPHA:314655
Congenital Tracheomalacia
Neonatal respiratory distress, Apnea, Intercostal retractions, Pneumonia, Productive cough, Dyspn... ORPHA:95430
Congenital Disorder Of Glycosylation, Type Ij
Clinodactyly of the 5th finger, Apnea, Respiratory insufficiency, Aggressive behavior OMIM:608093
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Apnea, Rocker bottom foot, Postaxial polydactyly, Long fingers, Respiratory insufficiency, Dyspha... OMIM:617527
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Death in infancy, Apnea OMIM:614498
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Central apnea, Congenital hip dislocation, Femur fracture, Respiratory insufficiency due to muscl... OMIM:618291
Donohue Syndrome
Precocious puberty, Postnatal growth retardation, Long penis, Hyperinsulinemia, Ovarian cyst, Pan... OMIM:246200
Leukodystrophy, Hypomyelinating, 4
Apnea OMIM:612233
Optic Pathway Glioma
Precocious puberty, Growth delay ORPHA:2086
Genitopatellar Syndrome
Hip contracture, Sparse scalp hair, Apnea, Hypoplastic ilia, Patellar aplasia, Fine hair, Radioul... ORPHA:85201
Woolly Hair Nevus
Precocious puberty ORPHA:79414
Severe X-Linked Intellectual Disability, Gustavson Type
Congenital hip dislocation, Small for gestational age, Rocker bottom foot, Calcaneovalgus deformi... ORPHA:3078
Cach Syndrome
Premature ovarian insufficiency, T2 hypointense thalamus, Primary amenorrhea, Secondary amenorrhe... ORPHA:135
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Apnea, Impulsivity, Aggressive behavior, Tongue thrusting, Attention deficit hyperactivity disord... OMIM:619580
Propionic Acidemia
Failure to thrive, Tachypnea, Apnea OMIM:606054
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Macroorchidism, Decreased serum insulin-like growth factor 1, Elevated circulating growth hormone... ORPHA:85327
Schwartz-Jampel Syndrome
Apnea, Low anterior hairline, Coxa vara, Generalized hirsutism, Death in infancy, Respiratory ins... ORPHA:800
Wolfram Syndrome 1
Diabetes mellitus, Diabetes insipidus, Growth delay, Hypothyroidism, Testicular atrophy OMIM:222300
Alexander Disease Type I
Failure to thrive, Abnormal thalamic MRI signal intensity, Cachexia ORPHA:363717
Autosomal Recessive Spastic Paraplegia Type 11
Overweight, Hypothalamic atrophy, Obesity ORPHA:2822
3-Methylglutaconic Aciduria, Type Viii
Death in infancy, Apnea, Hypopnea, Respiratory failure, Dysphagia, Neonatal death, Respiratory ar... OMIM:617248
Mogs-Cdg
Respiratory distress, Hypoventilation, Alopecia, Apnea, Long eyelashes, Overlapping fingers, Fair... ORPHA:79330
Central Diabetes Insipidus
Polydipsia, Anorexia ORPHA:178029
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Abnormal acetabulum morphology, Apnea, Postaxial polydactyly, Supernumerary nipple, Proximal femo... ORPHA:397715
Orofaciodigital Syndrome Type 6
Syndactyly, Mesoaxial polydactyly, Apnea, Episodic tachypnea, Highly arched eyebrow, Central Y-sh... ORPHA:2754
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness
Hyponatremia, Hyperchloriduria, Hypokalemia, Hypochloremia OMIM:613090
Joubert Syndrome
Apnea, Episodic tachypnea, Highly arched eyebrow, Hand polydactyly, Foot polydactyly, Abnormal pa... ORPHA:475
Gaucher Disease, Perinatal Lethal
Respiratory distress, Apnea, Dysphagia, Decreased body weight, Neonatal death OMIM:608013
Porphyria Due To Ala Dehydratase Deficiency
Hyponatremia, Restlessness, Abnormal circulating porphyrin concentration, Abnormal fear-induced b... ORPHA:100924
Epidermolysis Bullosa, Lethal Acantholytic
Syndactyly, Sandal gap, Alopecia totalis, Widely spaced toes, Clinodactyly of the 5th finger, Abs... OMIM:609638
Campomelic Dysplasia
Respiratory distress, Apnea, Anterior tibial bowing, Delayed epiphyseal ossification, Patellar hy... OMIM:114290
Ollier Disease
Precocious puberty ORPHA:296
Congenital Generalized Lipodystrophy
Overgrowth of external genitalia, Diabetes mellitus, Precocious puberty in females, Hyperinsuline... ORPHA:528
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Long toe, Death in infancy, Neonatal respiratory distress, Apnea, Tapered toe, Tapered finger, Hy... OMIM:608836
Hyperekplexia 1
Aspiration, Apnea, Hip dislocation OMIM:149400
Pontocerebellar Hypoplasia, Type 7
Hypopigmentation of the skin, Synophrys, Apnea, Hirsutism OMIM:614969
Ovarian Hyperstimulation Syndrome
Hemorrhagic ovarian cyst, Enlarged polycystic ovaries, Increased circulating gonadotropin level, ... ORPHA:64739
D-2-Hydroxyglutaric Aciduria 1
Apnea, Inspiratory stridor OMIM:600721
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Central apnea, Dysphagia, Compulsive behaviors, Aggressive behavior OMIM:615157
Amoebiasis Due To Free-Living Amoebae
Abnormal hypothalamus morphology, Abnormality of the adrenal glands, Myocardial necrosis ORPHA:68
Mitochondrial Dna Depletion Syndrome 14 (Cardioencephalomyopathic Type)
Apnea OMIM:616896
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Hyponatremia, Hyperchloriduria, Hypochloremia, Hypokalemia, Polydipsia OMIM:602522
Diencephalic-Mesencephalic Junction Dysplasia Syndrome 2
Decreased thalamic volume OMIM:618646
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Respiratory distress, Central apnea, Femoral bowing, Tibial bowing, Respiratory failure, Neonatal... OMIM:616482
Joubert Syndrome With Oculorenal Defect
Apnea, Highly arched eyebrow, Tachypnea, Hand polydactyly, Foot polydactyly ORPHA:2318
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Cryptorchidism, Abnormal thalamus morphology ORPHA:404440
Chromosome Xp11.23-P11.22 Duplication Syndrome
Precocious puberty OMIM:300801
Congenital Myasthenic Syndrome
Congenital hip dislocation, Sudden episodic apnea, Intermittent episodes of respiratory insuffici... ORPHA:590
Presynaptic Congenital Myasthenic Syndromes
Congenital hip dislocation, Sudden episodic apnea, Intermittent episodes of respiratory insuffici... ORPHA:98914
Alternating Hemiplegia Of Childhood
Respiratory distress, Apnea, Anorexia, Oral-pharyngeal dysphagia, Aggressive behavior, Impulsivit... ORPHA:2131
Arachnodactyly-Abnormal Ossification-Intellectual Disability Syndrome
Arachnodactyly, Apnea ORPHA:1129
Non-Acquired Panhypopituitarism
Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypogonadotropic hypogonadism, Ant... ORPHA:90695
2-Methylbutyryl-Coa Dehydrogenase Deficiency
Apneic episodes in infancy OMIM:610006
Nephronophthisis-Like Nephropathy 2
Polydipsia OMIM:619468
Mucopolysaccharidosis Type 1
Sinusitis, Apnea, Split hand, Low anterior hairline, Abnormal epiphysis morphology, Abnormal hip ... ORPHA:579
Prader-Willi Syndrome
Small scrotum, External genital hypoplasia, Decreased response to growth hormone stimulation test... OMIM:176270
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Decreased serum insulin-like growth factor 1, Decreased circulating cortisol level, Decreased res... ORPHA:293978
Insulin-Resistance Syndrome Type B
Enlarged ovaries, Abnormality of body weight, Enlarged polycystic ovaries, Abnormal circulating l... ORPHA:2298
Pseudo-Torch Syndrome 3
Death in infancy, Apnea, Respiratory insufficiency OMIM:618886
Dentici-Novelli Neurodevelopmental Syndrome
Precocious puberty OMIM:619877
Fructose-1,6-Bisphosphatase Deficiency
Dyspnea, Apnea, Hyperventilation OMIM:229700
Aromatase Deficiency
Ovarian cyst, Hypergonadotropic hypogonadism, Primary amenorrhea, Female pseudohermaphroditism OMIM:613546
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency
Failure to thrive, Apnea OMIM:210200
Hyperekplexia 3
Respiratory arrest, Apnea OMIM:614618
Developmental And Epileptic Encephalopathy 90
Apneic episodes in infancy OMIM:301058
Joubert Syndrome With Renal Defect
Hand polydactyly, Apnea, Abnormal pattern of respiration, Highly arched eyebrow ORPHA:220497
19P13.3 Microduplication Syndrome
Precocious puberty, Intrauterine growth retardation, Growth delay, Unilateral cryptorchidism ORPHA:447980
Infantile Neuroaxonal Dystrophy
Hyperactivity, Impulsivity, Apneic episodes in infancy, Aspiration pneumonia, Choking episodes ORPHA:35069
Microphthalmia, Syndromic 3
Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Hypospadias, Short stature, Postnat... OMIM:206900
Joubert Syndrome With Ocular Defect
Apnea, Highly arched eyebrow, Hand polydactyly, Foot polydactyly, Abnormal pattern of respiration ORPHA:220493
Intellectual Developmental Disorder, Autosomal Dominant 54
Small for gestational age, Apnea, Thin nail, Aggressive behavior, Bruxism, Sparse hair, Hypervent... OMIM:617799
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Precocious puberty OMIM:619356
Abcd Syndrome
White eyelashes, White eyebrow, Large for gestational age, Albinism, Neonatal death OMIM:600501
Tenorio Syndrome
Recurrent pneumonia, Apnea, Thick eyebrow, Hypertrichosis OMIM:616260
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Respiratory distress, Death in infancy, Neonatal respiratory distress, Apnea, Hypopnea, Death in ... OMIM:618426
Pallister-Hall Syndrome
Thyroid dysgenesis, Decreased circulating cortisol level, Short stature, Decreased response to gr... OMIM:146510
Bartter Syndrome Type 4
Hyponatremia, Hypochloremia, Hypokalemia, Increased circulating renin level, Hypomagnesemia, Emot... ORPHA:89938
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
Developmental And Epileptic Encephalopathy 101
Apnea OMIM:619814
Tarp Syndrome
Finger syndactyly, Apnea, Rocker bottom foot, Postaxial polydactyly, Abnormal hair pattern, Hypop... ORPHA:2886
Neurological Conditions Associated With Aminoacylase 1 Deficiency
Apnea ORPHA:137754
Bartter Syndrome, Type 2, Antenatal
Hyperchloriduria, Increased serum prostaglandin E2, Hypochloremia, Hypokalemia, Increased circula... OMIM:241200
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Clinodactyly of the 5th finger, Agitation, Apnea OMIM:618056
Brachytelephalangic Chondrodysplasia Punctata
Central apnea, Respiratory failure requiring assisted ventilation, Neonatal respiratory distress,... ORPHA:79345
19P13.12 Microdeletion Syndrome
Hypospadias, Precocious puberty, Cryptorchidism, Obesity, Intrauterine growth retardation, Hypoth... ORPHA:254346
Auriculocondylar Syndrome 1
Apnea OMIM:602483
Joubert Syndrome 1
Central apnea, Hyperactivity, Episodic tachypnea, Highly arched eyebrow, Aggressive behavior, Pos... OMIM:213300
Alg6-Cdg
Puberty and gonadal disorders, Failure to thrive, Increased circulating androgen concentration ORPHA:79320
Myotonia, Potassium-Aggravated
Stridor, Apneic episodes in infancy OMIM:608390
Coach Syndrome 2
Apneic episodes in infancy OMIM:619111
Peripheral Primitive Neuroectodermal Tumor
Neoplasm of the pancreas, Metrorrhagia, Precocious puberty, Ovarian neoplasm, Weight loss, Neopla... ORPHA:370348
Hermansky-Pudlak Syndrome 10
Ocular albinism, Apnea, Albinism OMIM:617050
Orofaciodigital Syndrome Xvi
Postaxial foot polydactyly, Postaxial hand polydactyly, Apnea OMIM:617563
Hyperglycinemia, Lactic Acidosis, And Seizures
Apnea, Respiratory insufficiency OMIM:614462
Teratoma, Pineal
Polydipsia OMIM:273120
Coasy Protein-Associated Neurodegeneration
Abnormal thalamus morphology ORPHA:397725
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities
Precocious puberty, Cryptorchidism, Micropenis, Labial hypoplasia OMIM:620073
Familial Cold Urticaria
Polydipsia ORPHA:47045
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Apnea, Large for gestational age ORPHA:79644
Mitochondrial Dna-Associated Leigh Syndrome
Apnea, Dyspnea, Episodic respiratory distress, Pigmentary retinopathy, Dysphagia, Failure to thri... ORPHA:255210
Bartter Syndrome, Type 1, Antenatal
Hyperchloriduria, Increased serum prostaglandin E2, Hypercalcemia, Hypochloremia, Hypokalemia, In... OMIM:601678
Bardet-Biedl Syndrome 9
Polydipsia, Polyphagia OMIM:615986
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome
Central apnea, Abnormal location of the eyebrow, Equinus calcaneus, Repetitive compulsive behavio... ORPHA:522077
Biotinidase Deficiency
Alopecia, Tachypnea, Apnea OMIM:253260
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
Neonatal respiratory distress, Apnea, Stridor, Blotching pigmentation of the skin, Aspiration OMIM:614653
Congenital Left Ventricular Aneurysm
Apnea ORPHA:1055
Autosomal Recessive Spastic Paraplegia Type 77
Neuromuscular dysphagia, Hip dysplasia, Sudden episodic apnea ORPHA:466722
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Primary amenorrhea, Secondary am... OMIM:157640
Carney Complex
Increased body weight, Thyroid carcinoma, Papillary thyroid carcinoma, Leydig cell neoplasia, Abn... ORPHA:1359
Shprintzen-Goldberg Syndrome
Bowing of the long bones, Arachnodactyly, Apnea, Camptodactyly of finger, Genu valgum, Abnormal m... ORPHA:2462
Orofaciodigital Syndrome Type 2
Finger syndactyly, Apnea, Broad hallux, Thick hair, Short tibia, Tachypnea, Adactyly, Broad first... ORPHA:2751
Necrotizing Enterocolitis
Small for gestational age, Apnea ORPHA:391673
Basal Ganglia Calcification, Idiopathic, 8, Autosomal Recessive
Thalamic calcification OMIM:618824
Fructose-1,6-Bisphosphatase Deficiency
Respiratory distress, Intermittent hyperventilation, Episodic tachypnea, Dyspnea, Apneic episodes... ORPHA:348
Mitochondrial Complex I Deficiency, Nuclear Type 2
Apneic episodes in infancy, Apnea, Hypercapnia, Respiratory insufficiency OMIM:618222
3-Hydroxy-3-Methylglutaric Aciduria
Tachypnea, Apnea, Anorexia, Weight loss ORPHA:20
Illum Syndrome
Apnea OMIM:208155
Central Hypoventilation Syndrome, Congenital, 1
Hypoventilation, Apnea, Central hypoventilation, Hypercapnia, Hypoxemia, Nocturnal hypoventilation OMIM:209880
Biotinidase Deficiency
Respiratory distress, Alopecia, Apnea, Hyperventilation ORPHA:79241
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Respiratory distress, Short humerus, Short femur, Apnea, Aggressive behavior, Polydactyly, Failur... ORPHA:17
Kcnq2-Related Epileptic Encephalopathy
Apnea ORPHA:439218
Basal Ganglia Calcification, Idiopathic, 5
Thalamic calcification OMIM:615483
Neurodevelopmental Disorder With Seizures And Brain Atrophy
Decreased thalamic volume OMIM:619072
Kleefstra Syndrome Due To A Point Mutation
Precocious puberty, Failure to thrive, Short stature, Large for gestational age ORPHA:261652
Aromatic L-Amino Acid Decarboxylase Deficiency
Tongue thrusting, Apnea, Cardiorespiratory arrest OMIM:608643
Paternal Uniparental Disomy Of Chromosome 6
Neonatal insulin-dependent diabetes mellitus, Precocious puberty, Cryptorchidism, Labial hypertro... ORPHA:96191
Slc35A2-Cdg
Failure to thrive in infancy, Short stature, Precocious puberty, Elevated circulating thyroid-sti... ORPHA:356961
Lesch-Nyhan Syndrome
Testicular atrophy, Short stature OMIM:300322
Pancreatic And Cerebellar Agenesis
Death in infancy, Failure to thrive, Overlapping fingers, Apnea OMIM:609069
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction
Hypoventilation, Apnea, Hypopnea, Restrictive ventilatory defect, Aspiration pneumonia, Dysphagia OMIM:619482
Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive
Thalamic calcification OMIM:618317
Ochoa Syndrome
Polydipsia ORPHA:2704
Phakomatosis Pigmentokeratotica
Precocious puberty, Cryptorchidism, Pheochromocytoma, Hyperhidrosis ORPHA:2874
Joubert Syndrome With Hepatic Defect
Postaxial hand polydactyly, Apnea, Abnormal pattern of respiration, Highly arched eyebrow ORPHA:1454
Osteopathia Striata With Cranial Sclerosis
Arachnodactyly, Apnea, Osteopathia striata, Fibular hypoplasia, Clinodactyly of the 5th finger, C... OMIM:300373
Basilicata-Akhtar Syndrome
Precocious puberty OMIM:301032
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 2
T2 hypointense thalamus OMIM:618193
Joubert Syndrome 2
Central apnea, Episodic tachypnea, Postaxial hand polydactyly, Postaxial foot polydactyly, Failur... OMIM:608091
Smith-Magenis Syndrome
Failure to thrive in infancy, Short stature, Precocious puberty, Obesity, Delayed puberty, Hypoth... ORPHA:819
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Hyperextensibility of the finger joints, Apnea, Internally rotated shoulders, Synophrys, Clinodac... OMIM:619503
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Apnea OMIM:261680
Carpenter Syndrome 1
Short stature, External genital hypoplasia, Precocious puberty, Cryptorchidism, Patent ductus art... OMIM:201000
Rhombencephalosynapsis
Fusion of the left and right thalami, Abnormality of the uterus ORPHA:59315
Myhre Syndrome
Abnormal penis morphology, Severe short stature, Hypospadias, External genital hypoplasia, Precoc... ORPHA:2588
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome
Intrauterine growth retardation, Abnormality of the diencephalon ORPHA:2570
9P13 Microdeletion Syndrome
Precocious puberty, Short stature, External genital hypoplasia ORPHA:324313
Familial Hyperaldosteronism Type I
Polydipsia ORPHA:403
Tubulinopathy-Associated Dysgyria
Abnormal thalamus morphology ORPHA:467166
Mitochondrial Complex Iv Deficiency, Nuclear Type 3
Focal T2 hyperintense thalamic lesion, Failure to thrive OMIM:619046
Stüve-Wiedemann Syndrome
Respiratory distress, Bowing of the long bones, Apnea, Camptodactyly of finger, Asthma, Metaphyse... ORPHA:3206
Oculoskeletodental Syndrome
Abnormal thalamus morphology, Short stature ORPHA:557003
Bohring-Opitz Syndrome
Apnea, Synophrys, Severe failure to thrive, Metacarpophalangeal joint contracture, Hypertrichosis ORPHA:97297
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency
Failure to thrive, Apnea ORPHA:395
Autosomal Recessive Malignant Osteopetrosis
Bowing of the long bones, Apnea, Abnormality of hair texture, Abnormal epiphysis morphology, Chro... ORPHA:667
Ogden Syndrome
Congenital hip dislocation, Apnea, Sandal gap, Broad hallux, Metatarsus valgus, Sparse eyebrow, L... OMIM:300855
Cntnap2-Related Developmental And Epileptic Encephalopathy
Precocious puberty, Obesity ORPHA:163681
Schimmelpenning-Feuerstein-Mims Syndrome
Precocious puberty, Growth delay, Short stature OMIM:163200
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii
Precocious puberty, Patent ductus arteriosus, Disproportionate short stature, Truncal obesity, Ab... ORPHA:2637
Spinocerebellar Ataxia With Epilepsy
Focal T2 hyperintense thalamic lesion ORPHA:254881
Odontochondrodysplasia 2 With Hearing Loss And Diabetes
Proportionate short stature, Precocious puberty, Obesity, Growth delay, Type I diabetes mellitus OMIM:619269
Mitochondrial Complex I Deficiency, Nuclear Type 1
Death in infancy, Apnea, Respiratory insufficiency, Respiratory failure, Failure to thrive OMIM:252010
Joubert Syndrome 21
Apnea, Dyspnea, Respiratory failure, Dysphagia, Chronic sinusitis OMIM:615636
Hyperaldosteronism, Familial, Type Iii
Polydipsia OMIM:613677
Combined Oxidative Phosphorylation Defect Type 23
Failure to thrive, Abnormal thalamic MRI signal intensity ORPHA:444013
Nephronophthisis 4
Polydipsia OMIM:606966
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii
Hypospadias, Precocious puberty, Postnatal growth retardation, Disproportionate short stature, Tr... OMIM:210720
Pallister-Hall Syndrome
Small scrotum, Adrenal hypoplasia, Large for gestational age, Gonadotropin deficiency, Micropenis... ORPHA:672
Mosaic Variegated Aneuploidy Syndrome
Abnormality of skin pigmentation, Apnea, Clinodactyly of the 5th finger, Multiple cafe-au-lait spots ORPHA:1052
8P Inverted Duplication/Deletion Syndrome
Precocious puberty, Cryptorchidism, Micropenis, Aplasia/Hypoplasia of the gallbladder ORPHA:96092
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Bifid scrotum, Fused labia majora, Decreased circulating cortisol level, Small scrotum, Micropeni... OMIM:201750
Radio-Tartaglia Syndrome
Precocious puberty, Obesity OMIM:619312
Bainbridge-Ropers Syndrome
Supernumerary nipple, Precocious puberty, Cryptorchidism, Growth delay, Intrauterine growth retar... OMIM:615485
Cystinosis
Polydipsia, Abnormal repetitive mannerisms ORPHA:213
East Syndrome
Polydipsia, Salt craving ORPHA:199343
Tay-Sachs Disease
Precocious puberty, Abnormal thalamic MRI signal intensity ORPHA:845
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Growth delay, Abnormal mitochondrial shape, Abnormal thalamic MRI signal intensity ORPHA:485421
Senior-Loken Syndrome 3
Polydipsia OMIM:606995
Cushing Syndrome Due To Ectopic Acth Secretion
Adrenal hyperplasia, Pancreatoblastoma, Pituitary corticotropic cell adenoma, Neoplasm of the thy... ORPHA:99889
Familial Hyperaldosteronism Type Iii
Polydipsia ORPHA:251274
Cln3 Disease
Increased circulating androgen concentration ORPHA:228346
Diabetes Insipidus, Nephrogenic, 2, Autosomal
Polydipsia OMIM:125800
Diabetes Insipidus, Nephrogenic, 1, X-Linked
Polydipsia OMIM:304800
Pediatric-Onset Graves Disease
Hyperactivity, Polydipsia, Polyphagia ORPHA:525731
Xp21 Deletion Syndrome
Finger clinodactyly, Apneic episodes in infancy ORPHA:261476
Bilateral Perisylvian Polymicrogyria
Aspiration, Pseudobulbar paralysis, Apnea, Dysphagia ORPHA:98889
Carnitine-Acylcarnitine Translocase Deficiency
Sudden episodic apnea, Respiratory insufficiency ORPHA:159
3P25.3 Microdeletion Syndrome
Patent ductus arteriosus, Abnormal thalamus morphology ORPHA:435638
Combined Oxidative Phosphorylation Defect Type 7
Failure to thrive, Abnormal thalamic MRI signal intensity ORPHA:254930
Bifid Nose With Or Without Anorectal And Renal Anomalies
Precocious puberty, Rectovaginal fistula OMIM:608980
Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type
T2 hypointense thalamus ORPHA:1947
Bardet-Biedl Syndrome 17
Polydipsia OMIM:615994
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Precocious puberty, Rhizomelia, Hypospadias OMIM:615877
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Streak ovary, Hypergonadotropic hypogonadism, Premature ovarian insufficiency, Elevated circulati... ORPHA:572333
Nephronophthisis 3
Polydipsia OMIM:604387
Nephrogenic Diabetes Insipidus
Polydipsia, Anorexia ORPHA:223
Slc39A8-Cdg
Cutaneous syndactyly of toes, Sudden episodic apnea, Failure to thrive in infancy ORPHA:468699
Kabuki Syndrome
Hypoplasia of penis, Hypospadias, Short stature, Precocious puberty, Cryptorchidism, Obesity, Fai... ORPHA:2322
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development
Fusion of the left and right thalami OMIM:617542
Diethylstilbestrol Syndrome
Central apnea, Small for gestational age ORPHA:1916
X-Linked Intellectual Disability, Snyder Type
Hypospadias, Short stature, Cryptorchidism, Abnormality of the Leydig cells, Testicular atrophy ORPHA:3063
Nephronophthisis 1
Polydipsia OMIM:256100
Primary Unilateral Adrenal Hyperplasia
Polydipsia ORPHA:231580
Norrie Disease