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Gene: Phf6 MGI:1918248

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Gene Summary

Name:
PHD finger protein 6
Synonyms:
4931428F02Rik,  2700007B13Rik

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype System Allele Zyg Sex Life Stage P Value
preweaning lethality, complete penetrance Phf6tm1b(EUCOMM)Wtsi HOM   Early adult 0.00
abnormal auditory brainstem response Phf6tm1b(EUCOMM)Wtsi HET   Early adult 1.56×10-05

Download data as:  TSV  XLS

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Viewing: all phenotypes

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 Phf6 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 Phf6 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Borjeson-Forssman-Lehmann Syndrome
Obesity, Seizure, EEG abnormality OMIM:301900
Borjeson-Forssman-Lehmann Syndrome
Seizure, Truncal obesity ORPHA:127

The table below shows human diseases predicted to be associated to Phf6 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Lymphoblastic Leukemia, Acute, With Lymphomatous Features
Lymphoma, T-cell acute lymphoblastic leukemias, Acute lymphoblastic leukemia OMIM:247640
Deafness, Autosomal Recessive 9
Absent brainstem auditory responses, Sensorineural hearing impairment OMIM:601071
Myeloproliferative Syndrome, Transient
Transient myeloproliferative syndrome, Leukocytosis OMIM:159595
Juvenile Myelomonocytic Leukemia
Juvenile myelomonocytic leukemia OMIM:607785
Auditory Neuropathy, Autosomal Dominant 1
Abnormal auditory evoked potentials, Sensorineural hearing impairment OMIM:609129
Myeloproliferative Disorder, Chronic, With Eosinophilia
Malignant eosinophil proliferation, Eosinophilia, Myeloproliferative disorder OMIM:131440
Macroglobulinemia, Waldenstrom, Susceptibility To, 1
Lymphoma, Monoclonal immunoglobulin M proteinemia, Leukemia, Impaired lymphocyte transformation w... OMIM:153600
Glioma Susceptibility 9
Astrocytoma, Renal neoplasm, Glioma, Leukemia, Neoplasm of the lung OMIM:616568
Leukemia, Acute, X-Linked
Acute leukemia OMIM:308960
Leukemia, Acute Lymphoblastic
Acute lymphoblastic leukemia OMIM:613065
Leukemia, Acute Monocytic
Acute monocytic leukemia OMIM:151380
Leukemia, Acute Myeloid
Acute myeloid leukemia OMIM:601626
Myeloproliferative Disease, Autosomal Recessive
Myeloproliferative disorder OMIM:254700
Deafness, Autosomal Recessive 104
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment OMIM:616515
Erythroleukemia, Familial, Susceptibility To
Acute myeloid leukemia, Anemia, Splenomegaly, Erythroid hyperplasia, Thrombocytopenia, Refractory... OMIM:133180
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults
Acute myeloid leukemia, Neutropenia OMIM:607847
Hypothyroidism, Central, With Testicular Enlargement
Hypothyroidism, Reduced TSH response to thyrotrophin-releasing hormone stimulation test, Inapprop... OMIM:300888
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Acute myeloid leukemia, Thrombocytopenia, Increased mean corpuscular volume, Myelodysplasia OMIM:252270
Isolated Growth Hormone Deficiency, Type Iv
Decreased serum insulin-like growth factor 1, Anterior pituitary hypoplasia, Decreased response t... OMIM:618157
Leukemia, Acute Myelocytic, With Polyposis Coli And Colon Cancer
Acute myeloid leukemia, Colon cancer, Adenomatous colonic polyposis OMIM:246470
Pituitary Hormone Deficiency, Combined, 2
Hypothyroidism, Decreased circulating follicle stimulating hormone concentration, Hypogonadism, A... OMIM:262600
Mismatch Repair Cancer Syndrome 2
T-cell acute lymphoblastic leukemias, Colon cancer, Glioblastoma multiforme OMIM:619096
Spermatogenic Failure 14
Elevated circulating follicle stimulating hormone level, Abnormal circulating testosterone concen... OMIM:615842
Prolactin Deficiency With Obesity And Enlarged Testes
Macroorchidism, Obesity, Reduced circulating prolactin concentration OMIM:264120
Leukemia, Chronic Lymphocytic, Susceptibility To, 2
Chronic lymphatic leukemia OMIM:109543
Leukemia, Chronic Lymphocytic
Chronic lymphatic leukemia OMIM:151400
Nut Midline Carcinoma
Oropharyngeal squamous cell carcinoma, Squamous cell carcinoma, Pancreatic squamous cell carcinom... ORPHA:443167
Spermatogenic Failure, X-Linked, 4
Abnormal prolactin level, Elevated circulating luteinizing hormone level, Elevated circulating fo... OMIM:301077
Post-Traumatic Pituitary Deficiency
Decreased response to growth hormone stimulation test, Decreased testicular size, Decreased circu... ORPHA:95619
Isolated Growth Hormone Deficiency, Type Ii
Decreased serum insulin-like growth factor 1, Anterior pituitary hypoplasia, Decreased response t... OMIM:173100
Li-Fraumeni Syndrome
Acute myeloid leukemia, Neoplasm of the gastrointestinal tract, Neoplasm of the central nervous s... ORPHA:524
Chromosome 14Q32 Duplication Syndrome, 700-Kb
Acute myeloid leukemia, Chronic myelomonocytic leukemia OMIM:616604
Li-Fraumeni Syndrome
Nephroblastoma, Breast carcinoma, Prostate cancer, Adrenocortical carcinoma, Choriocarcinoma, Neo... OMIM:151623
Pyknoachondrogenesis
Stillbirth OMIM:265880
Growth Hormone Deficiency, Isolated Partial
Small pituitary gland, Decreased response to growth hormone stimulation test OMIM:615925
Pituitary Carcinoma
Pituitary thyrotropic cell adenoma, Enlarged pituitary gland, Diabetes insipidus, Pituitary corti... ORPHA:300385
Ane Syndrome
Anterior pituitary hypoplasia, Decreased response to growth hormone stimulation test, Abnormal re... ORPHA:157954
Fanconi Anemia, Complementation Group G
Anemia, Myelodysplasia, Thrombocytopenia, Neutropenia, Leukemia OMIM:614082
Pituitary Hormone Deficiency, Combined Or Isolated, 1
Hypothyroidism, Anterior pituitary hypoplasia, Decreased circulating free T4 concentration, Reduc... OMIM:613038
Obesity Due To Prohormone Convertase I Deficiency
Hyperinsulinemia, Childhood-onset truncal obesity, Decreased response to growth hormone stimulati... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Hyperinsulinemia, Childhood-onset truncal obesity, Decreased response to growth hormone stimulati... ORPHA:71526
Prolactin Deficiency, Isolated
Reduced circulating prolactin concentration OMIM:264110
Thyroid Hormone Metabolism, Abnormal, 1
Hypothyroidism, Elevated circulating thyroid-stimulating hormone concentration, Increased circula... OMIM:609698
Continuous Spikes And Waves During Sleep
EEG with centrotemporal focal spike waves, Focal-onset seizure, Focal clonic seizure, Interictal ... ORPHA:725
Leukemia, Chronic Myeloid
Chronic myelogenous leukemia, Ph-positive acute lymphoblastic leukemia OMIM:608232
Lymphedema, Primary, With Myelodysplasia
Acute myeloid leukemia, Decreased CD4:CD8 ratio, Myelodysplasia, Pancytopenia, Leukemia, Verrucae OMIM:614038
Resistance To Thyrotropin-Releasing Hormone Syndrome
Increased circulating prolactin concentration, Elevated circulating thyroid-stimulating hormone c... ORPHA:99832
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To
Lymphoma, Leukopenia, Acute myeloid leukemia, Myelodysplasia, Refractory anemia, Monocytosis OMIM:616871
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Anemia, Acute monocytic leukemia, Thrombocytosis, Eosinophilia, Monocytosis, Congenital agranuloc... OMIM:202700
Functioning Gonadotropic Adenoma
Isosexual precocious puberty, Decreased response to growth hormone stimulation test, Enlarged pol... ORPHA:91348
Hypogonadotropic Hypogonadism 27 Without Anosmia
Decreased circulating follicle stimulating hormone concentration, Reduced response to gonadotropi... OMIM:619755
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Acute myeloid leukemia, Anemia, Myelodysplasia, Pancytopenia, Increased mean corpuscular volume, ... OMIM:619041
Ras-Associated Autoimmune Leukoproliferative Disorder
Lymphoma, Splenomegaly, Hemolytic anemia, Lymphocytosis, Pancytopenia, Autoimmune thrombocytopeni... OMIM:614470
Panhypophysitis
Increased circulating prolactin concentration, Abnormal size of pituitary gland, Gonadotropin def... ORPHA:95513
Non-Functioning Pituitary Adenoma
Anterior hypopituitarism, Adrenal insufficiency, Increased circulating gonadotropin level, Second... ORPHA:91349
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 2
Aplastic anemia, Myeloid leukemia, Leukemia, Pancytopenia OMIM:614743
Alpha-Thalassemia-Myelodysplastic Syndrome
Neutropenia, Myelodysplasia, HbH hemoglobin, Thrombocytopenia, Acute leukemia, Splenomegaly, Micr... ORPHA:231401
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Elevated circulating thyroid-stimulating hormone concentration, Increased circulating T4 concentr... ORPHA:171706
Myelocytic Leukemia-Like Syndrome, Familial, Chronic
Chronic myelogenous leukemia OMIM:600080
Adenohypophysitis
Increased circulating prolactin concentration, Abnormal size of pituitary gland, Gonadotropin def... ORPHA:95512
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials, Facial palsy OMIM:601382
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Acute myeloid leukemia, Myelodysplasia, Acute lymphoblastic leukemia, Hepatocellular carcinoma, H... ORPHA:158057
Unclassified Myelodysplastic Syndrome
Acute myeloid leukemia, Multiple lineage myelodysplasia, Leukocytosis, Myelodysplasia ORPHA:98827
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Absence of secondary sex characteristics, Anterior hypopituitarism, Hypothalamic gonadotropin-rel... ORPHA:2235
Pituicytoma
Increased circulating prolactin concentration, Decreased response to growth hormone stimulation t... ORPHA:251623
Non-Acquired Combined Pituitary Hormone Deficiency-Sensorineural Hearing Loss-Spine Abnormalities Syndrome
Anterior pituitary hypoplasia, Decreased response to growth hormone stimulation test, Gonadotropi... ORPHA:231720
Fanconi Anemia, Complementation Group D1
Acute myeloid leukemia, Failure to thrive, T-cell acute lymphoblastic leukemias OMIM:605724
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome
Reduced subcutaneous adipose tissue, Small pituitary gland, Delayed puberty, Limb joint contractu... OMIM:612079
Pulmonary Hypoplasia, Primary
Neonatal death OMIM:265430
N Syndrome
Neoplasm, Leukemia OMIM:310465
Pituitary Hormone Deficiency, Combined Or Isolated, 7
Anterior pituitary hypoplasia, Decreased response to growth hormone stimulation test, Abdominal o... OMIM:618160
Polyendocrine-Polyneuropathy Syndrome
Central hypothyroidism, Decreased circulating follicle stimulating hormone concentration, Anterio... ORPHA:453533
Hypereosinophilic Syndrome, Idiopathic
Splenomegaly, Eosinophilia, Myeloproliferative disorder OMIM:607685
X-Linked Acrogigantism
Enlarged pituitary gland, Diabetes insipidus, Increased circulating prolactin concentration, Hype... ORPHA:300373
Neutropenia, Severe Congenital, 3, Autosomal Recessive
Neutropenia, Acute lymphoblastic leukemia, Myelodysplasia OMIM:610738
Generalized Eruptive Histiocytosis
Hypereosinophilia, Histiocytosis, Leukemia ORPHA:157991
Immunodeficiency 21
Anemia, Myeloid leukemia, Reduced natural killer cell count, Monocytopenia, B lymphocytopenia, My... OMIM:614172
Platelet Disorder, Familial, With Associated Myeloid Malignancy
Lymphoma, Acute myeloid leukemia, Abnormal alpha granule content, Myelodysplasia, Abnormal dense ... OMIM:601399
Optic Atrophy 8
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Prolonged somatosensory ev... OMIM:616648
Pituitary Hormone Deficiency, Combined, 3
Anterior hypopituitarism, Anterior pituitary hypoplasia, Decreased response to growth hormone sti... OMIM:221750
Immunodeficiency, Common Variable, 13
Acute lymphoblastic leukemia, Pancytopenia, B lymphocytopenia OMIM:616873
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Leukopenia, Acute myeloid leukemia, Abnormality of neutrophil morphology, Myelodysplasia, Erythro... ORPHA:86841
Hernia, Anterior Diaphragmatic
Neonatal death OMIM:306950
Acute Promyelocytic Leukemia
Acute promyelocytic leukemia OMIM:612376
Intellectual Developmental Disorder, X-Linked, With Panhypopituitarism
Hypothyroidism, Decreased response to growth hormone stimulation test, Panhypopituitarism OMIM:300123
Storage Pool Platelet Disease
Decreased mean platelet volume, Acute leukemia, Myelodysplasia OMIM:185050
Gangliocytoma
Hyperhidrosis, Adrenocorticotropic hormone excess, Pituitary null cell adenoma, Abnormal prolacti... ORPHA:251937
Primary Erythromelalgia
Leukemia ORPHA:90026
Dohle Bodies And Leukemia
Leukocyte inclusion bodies, Acute myeloid leukemia, Anemia OMIM:223350
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Umbilical hernia, Decreased circulating follicle stimulating hormone concentration, Anterior pitu... ORPHA:226307
X-Linked Intellectual Disability With Isolated Growth Hormone Deficiency
Ectopic posterior pituitary, Decreased serum insulin-like growth factor 1, Anterior pituitary hyp... ORPHA:67045
Chronic Myeloid Leukemia
Abnormal granulocyte morphology, Abnormal basophil morphology, Thrombocytosis, Leukocytosis, Myel... ORPHA:521
Sheehan Syndrome
Abnormal size of pituitary gland, Gonadotropin deficiency, Decreased serum estradiol, Decreased c... ORPHA:91355
Hypogonadotropic Hypogonadism 6 With Or Without Anosmia
Small pituitary gland, Delayed puberty, Hypogonadotropic hypogonadism, Cryptorchidism OMIM:612702
Epilepsy, Familial Adult Myoclonic, 2
Blepharospasm, Cognitive impairment, Myoclonus, Dementia, Jerk-locked premyoclonus spikes, EEG wi... OMIM:607876
Cutaneous Neuroendocrine Carcinoma
Squamous cell carcinoma of the skin, Lymphoid leukemia, Neoplasm of the outer ear, Multiple myelo... ORPHA:79140
Acquired Idiopathic Sideroblastic Anemia
Acute myeloid leukemia, Neutropenia, Megaloblastic erythroid hyperplasia, Myelodysplasia, Normocy... ORPHA:75564
Mismatch Repair Cancer Syndrome 1
Lymphoma, Medulloblastoma, Astrocytoma, Adenocarcinoma of the small intestine, Adenocarcinoma of ... OMIM:276300
Tumor Predisposition Syndrome 2
Acute myeloid leukemia, Ductal carcinoma in situ, Juvenile type ovarian granulosa cell tumor, Sch... OMIM:619975
Pituitary Apoplexy
Increased circulating prolactin concentration, Decreased response to growth hormone stimulation t... ORPHA:95613
Amed Syndrome, Digenic
Acute myeloid leukemia, Leukopenia, Anemia, Myelodysplasia, Failure to thrive, Thrombocytopenia OMIM:619151
Isolated Growth Hormone Deficiency, Type Ib
Decreased response to growth hormone stimulation test OMIM:612781
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia
Decreased testicular size, Small pituitary gland, Cryptorchidism OMIM:614880
Non-Acquired Isolated Growth Hormone Deficiency
Anterior hypopituitarism ORPHA:631
Bone Marrow Failure And Diabetes Mellitus Syndrome
T-cell acute lymphoblastic leukemias, Pancytopenia, Increased mean corpuscular volume OMIM:620044
Ovarian Dysgenesis 4
Elevated circulating follicle stimulating hormone level, Decreased body weight, Decreased serum e... OMIM:616185
Pituitary Dwarfism With Large Sella Turcica
Hypothyroidism, Decreased response to growth hormone stimulation test OMIM:262710
Developmental And Epileptic Encephalopathy 108
Small pituitary gland OMIM:620115
Autosomal Recessive Spastic Paraplegia Type 44
Abnormal motor evoked potentials, Abnormal auditory evoked potentials, Sensorineural hearing impa... ORPHA:320401
Systemic Mastocytosis With Associated Hematologic Neoplasm
Lymphoma, Acute myeloid leukemia, Myeloid leukemia, Increased basophil count, Chronic lymphatic l... ORPHA:98849
Delayed Puberty, Self-Limited
Decreased circulating follicle stimulating hormone concentration, Delayed puberty, Decreased seru... OMIM:619613
Non-Acquired Panhypopituitarism
Anterior pituitary hypoplasia, Decreased response to growth hormone stimulation test, Absence of ... ORPHA:90695
Panhypopituitarism, X-Linked
Panhypopituitarism OMIM:312000
Wt Limb-Blood Syndrome
Thrombocytopenia, Leukemia, Pancytopenia, Hypoplastic anemia OMIM:194350
Ravine Syndrome
Abnormal auditory evoked potentials ORPHA:99852
Premature Ovarian Failure 17
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Decreased cirrculating... OMIM:619146
Joubert Syndrome 38
Small pituitary gland, Decreased serum insulin-like growth factor 1, Ectopic posterior pituitary,... OMIM:619476
Ataxia-Pancytopenia Syndrome
Acute myelomonocytic leukemia, Abnormal macrophage morphology, Pancytopenia, Abnormality of neutr... ORPHA:2585
Autosomal Dominant Severe Congenital Neutropenia
Acute myeloid leukemia, Myelodysplasia, Acute lymphoblastic leukemia, Lymphopenia, Hemangioma, Eo... ORPHA:486
Meningioma
Enlarged pituitary gland, Decreased circulating follicle stimulating hormone concentration, Incre... ORPHA:2495
Bdv Syndrome
Central hypothyroidism, Decreased circulating follicle stimulating hormone concentration, Hyperin... OMIM:619326
Sim1-Related Prader-Willi-Like Syndrome
Central hypothyroidism, Precocious puberty, Hypogonadism, Decreased testicular size, Type II diab... ORPHA:398079
Septooptic Dysplasia
Diabetes insipidus, Anterior pituitary hypoplasia, Decreased response to growth hormone stimulati... OMIM:182230
Congenital Disorder Of Glycosylation, Type Iiq
Small pituitary gland OMIM:617395
Prader-Willi Syndrome
Central hypothyroidism, Precocious puberty, Decreased response to growth hormone stimulation test... ORPHA:739
Fanconi Anemia, Complementation Group T
Acute myeloid leukemia, Anemia, Thrombocytopenia, Pancytopenia OMIM:616435
Ataxia-Pancytopenia Syndrome
Acute myelomonocytic leukemia, Anemia, Pancytopenia, Thrombocytopenia, Neutropenia, Hypoplastic a... OMIM:159550
Cog2-Cdg
Small pituitary gland ORPHA:435934
Deafness-Lymphedema-Leukemia Syndrome
Weight loss, Abnormal neutrophil count, Leukocytosis, Myeloproliferative disorder, Thrombocytopen... ORPHA:3226
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Decreased response to growth hormone stimulation test, Gonadotropin deficiency, Adrenal insuffici... OMIM:609734
Agammaglobulinemia 8B, Autosomal Recessive
Anemia, B lymphocytopenia, Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Pancyt... OMIM:619824
Hypothyroidism, Congenital, Nongoitrous, 8
Central hypothyroidism, Inappropriately normal thyroid-stimulating hormone level, Decreased circu... OMIM:301033
Pituitary Hormone Deficiency, Combined, 6
Decreased circulating follicle stimulating hormone concentration, Decreased circulating ACTH leve... OMIM:613986
Aggressive Systemic Mastocytosis
Anemia, Weight loss, Hypersplenism, Pancytopenia, Hepatosplenomegaly, Increased proportion of CD2... ORPHA:98850
Pituitary Deficiency Due To Rathke Cleft Cysts
Enlarged pituitary gland, Diabetes insipidus, Increased circulating prolactin concentration, Ante... ORPHA:91350
Adrenal Hypoplasia, Congenital, With Absent Pituitary Luteinizing Hormone
Decreased circulating luteinizing hormone level, Congenital adrenal hypoplasia, Cryptorchidism OMIM:202150
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia
Decreased circulating follicle stimulating hormone concentration, Decreased serum estradiol, Hypo... OMIM:616030
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Central hypothyroidism, Precocious puberty, Decreased response to growth hormone stimulation test... ORPHA:98754
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Primary gonadal insufficiency, Decreased serum estradiol, Aplasia of the ovary, Absence of second... ORPHA:2232
Thymoma
Neoplasm of the gastrointestinal tract, Weight loss, Pure red cell aplasia, Neoplasm of head and ... ORPHA:99867
Pituitary Dermoid And Epidermoid Cysts
Enlarged pituitary gland, Increased circulating prolactin concentration, Hypogonadism, Hyperpitui... ORPHA:91351
Magel2-Related Prader-Willi-Like Syndrome
Central hypothyroidism, Precocious puberty, Flexion contracture, Hypogonadism, Decreased testicul... ORPHA:398069
Kallmann Syndrome With Spastic Paraplegia
Decreased circulating follicle stimulating hormone concentration, Hypothalamic gonadotropin-relea... OMIM:308750
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Nephroblastoma, Meningioma, Leukemia OMIM:602501
Thyroid Hormone Resistance, Generalized, Autosomal Recessive
Elevated circulating thyroid-stimulating hormone concentration, Small for gestational age, Type I... OMIM:274300
Joubert Syndrome 26
Central hypothyroidism, Decreased response to growth hormone stimulation test, Panhypopituitarism OMIM:616784
Charcot-Marie-Tooth Disease, Type 4D
Abnormal auditory evoked potentials, Decreased nerve conduction velocity, Hearing impairment OMIM:601455
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Central hypothyroidism, Precocious puberty, Decreased response to growth hormone stimulation test... ORPHA:98793
Pituitary Adenoma 1, Multiple Types
Increased circulating prolactin concentration, Pituitary adenoma, Prolactinoma, Increased circula... OMIM:102200
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Central hypothyroidism, Precocious puberty, Decreased response to growth hormone stimulation test... ORPHA:177904
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Central hypothyroidism, Precocious puberty, Decreased response to growth hormone stimulation test... ORPHA:177901
Oliver-Mcfarlane Syndrome
Decreased response to growth hormone stimulation test, Small for gestational age, Delayed puberty... OMIM:275400
Myelofibrosis
Splenomegaly, Myeloproliferative disorder OMIM:254450
Combined Pituitary Hormone Deficiencies, Genetic Forms
Anterior pituitary hypoplasia, Decreased response to growth hormone stimulation test, Absence of ... ORPHA:95494
Prader-Willi-Like Syndrome
Central hypothyroidism, Precocious puberty, Decreased response to growth hormone stimulation test... ORPHA:398073
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia
Decreased testicular size, Decreased circulating follicle stimulating hormone concentration, Elev... OMIM:229070
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia
Hypogonadotropic hypogonadism, Decreased circulating follicle stimulating hormone concentration, ... OMIM:614842
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Abnormal size of pituitary gland, Decreased response to growth hormone stimulation test, Decrease... ORPHA:293978
Craniopharyngioma
Enlarged pituitary gland, Increased circulating prolactin concentration, Hypogonadism, Neoplasm o... ORPHA:54595
Acute Monoblastic/Monocytic Leukemia
Anemia, Weight loss, Lymphocytosis, Acute monocytic leukemia, Leukocytosis, Hypochromic anemia ORPHA:514
Pituitary Deficiency Due To Empty Sella Turcica Syndrome
Increased circulating prolactin concentration, Precocious puberty, Decreased response to growth h... ORPHA:91354
Fg Syndrome Type 1
Small pituitary gland, Progressive flexion contractures, Inguinal hernia, Cryptorchidism, Slender... ORPHA:93932
Leydig Cell Hypoplasia, Type I
Increased circulating gonadotropin level, Hypergonadotropic hypogonadism OMIM:238320
Tsh-Secreting Pituitary Adenoma
Enlarged pituitary gland, Euthyroid hyperthyroxinemia, Increased circulating gonadotropin level, ... ORPHA:91347
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Absent brainstem auditory responses, Sensorineural hearing impairment, EEG abnormality, Facial palsy OMIM:617519
Leptin Receptor Deficiency
Decreased response to growth hormone stimulation test, Abnormal hypothalamus morphology, Diabetes... OMIM:614963
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 1
Anemia, Myeloid leukemia, Myelodysplasia, Pancytopenia, Aplastic anemia OMIM:614742
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities
Exaggerated startle response, Seizure, Inability to walk, Status epilepticus, Absent speech, Fail... OMIM:617864
Abcd Syndrome
Aganglionic megacolon, Total intestinal aganglionosis, Hearing impairment, Abnormal auditory evok... OMIM:600501
Bonnemann-Meinecke-Reich Syndrome
Decreased response to growth hormone stimulation test ORPHA:1261
Culler-Jones Syndrome
Diabetes insipidus, Anterior pituitary hypoplasia, Hypogonadism, Hypopituitarism, Ectopic posteri... OMIM:615849
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Abnormal auditory evoked potentials, Progressive sensorineural hearing impairment, Optic atrophy OMIM:125250
Hypogonadotropic Hypogonadism 10 With Or Without Anosmia
Hypogonadotropic hypogonadism, Decreased circulating follicle stimulating hormone concentration, ... OMIM:614839
Graves Disease, Susceptibility To, 1
Hyperhidrosis, Weight loss, Increased circulating free T3, Decreased thyroid-stimulating hormone ... OMIM:275000
Pseudohypoparathyroidism Type 1C
Enamel hypoplasia, Decreased response to growth hormone stimulation test, Reduced circulating pro... ORPHA:79444
Adrenocortical Carcinoma
Increased serum estradiol, Hyperhidrosis, Hyperaldosteronism, Increased circulating cortisol leve... ORPHA:1501
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Hyperthyroidism, Weight loss, Increased circulating T4 concentration, Decreased thyroid-stimulati... OMIM:613239
Obesity Due To Congenital Leptin Deficiency
Hyperinsulinemia, Decreased serum estradiol, Absence of secondary sex characteristics, Decreased ... ORPHA:66628
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Decreased circulating follicle stimulating hormone concentration, Decreased testicular size, Hypo... OMIM:308700
Orthostatic Hypotension 1
Reduced circulating prolactin concentration OMIM:223360
Hypergonadotropic Hypogonadism-Cataract Syndrome
Absence of secondary sex characteristics, Increased circulating gonadotropin level, Delayed puber... ORPHA:2410
Acute Panmyelosis With Myelofibrosis
Acute myeloid leukemia, Acute myelomonocytic leukemia, Lymphocytosis, Pancytopenia, Splenomegaly ORPHA:86843
Septo-Optic Dysplasia Spectrum
Diabetes insipidus, Hypohidrosis, Anterior pituitary hypoplasia, Maternal diabetes, Cryptorchidis... ORPHA:3157
Familial Thrombocytosis
Acute myeloid leukemia, Weight loss, Myelodysplasia, Thrombocytosis, Splenomegaly, Chronic myelog... ORPHA:71493
Hyperthyroidism, Familial Gestational
Decreased thyroid-stimulating hormone level, Increased circulating T4 concentration, Hyperthyroidism OMIM:603373
Premature Ovarian Failure 14
Elevated circulating follicle stimulating hormone level, Elevated circulating luteinizing hormone... OMIM:618014
Obesity Due To Leptin Receptor Gene Deficiency
Hyperinsulinemia, Decreased serum estradiol, Absence of secondary sex characteristics, Decreased ... ORPHA:179494
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia
Decreased circulating follicle stimulating hormone concentration, Decreased serum estradiol, Hypo... OMIM:614897
Essential Thrombocythemia
Abnormal platelet morphology, Acute leukemia, Splenomegaly, Myelodysplasia ORPHA:3318
Leukodystrophy, Hypomyelinating, 13
Exaggerated startle response, Absent speech, Ataxia, Failure to thrive, Prolonged brainstem audit... OMIM:616881
Immunodeficiency 36 With Lymphoproliferation
Chronic lymphatic leukemia, Increased proportion of transitional B cells, B lymphocytopenia, Decr... OMIM:616005
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Testicular microlithiasis, Decreased circulating dihydrotestosterone concentration, Androgen insu... OMIM:228300
Hyperekplexia-Epilepsy Syndrome
Exaggerated startle response, Generalized tonic seizure, Focal impaired awareness seizure, EEG wi... ORPHA:163985
Chilblain Lupus
Chronic myelomonocytic leukemia ORPHA:90280
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive
Failure to thrive, Decreased response to growth hormone stimulation test OMIM:245590
Pseudohypoparathyroidism Type 1A
Enamel hypoplasia, Decreased response to growth hormone stimulation test, Reduced circulating pro... ORPHA:79443
Spermatogenic Failure 77
Elevated circulating follicle stimulating hormone level, Abnormal circulating testosterone concen... OMIM:620103
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome
Small pituitary gland OMIM:614195
Turcot Syndrome With Polyposis
Neoplasm of the central nervous system, Ependymoma, Hepatoblastoma, Soft tissue neoplasm, Glioma,... ORPHA:99818
Retinoblastoma
Lymphoma, Retinoblastoma, Pinealoma, Ewing sarcoma, Osteosarcoma, Leukemia OMIM:180200
Hypothyroidism, Congenital, Nongoitrous, 4
Hypothyroidism, Decreased thyroid-stimulating hormone level, Decreased circulating T4 concentrati... OMIM:275100
Syndromic Recessive X-Linked Ichthyosis
Testicular seminoma, Acute leukemia ORPHA:281090
Endocardial Fibroelastosis
Anterior hypopituitarism, Cryptorchidism ORPHA:2022
Refractory Anemia With Excess Blasts
Acute myeloid leukemia, Single lineage myelodysplasia, Anemia of inadequate production, Abnormal ... ORPHA:86839
Ovarian Dysgenesis 9
Decreased serum estradiol, Hypoplasia of the ovary, Delayed puberty, Elevated circulating luteini... OMIM:619665
Spermatogenic Failure 28
Decreased testicular size, Elevated circulating follicle stimulating hormone level, Elevated circ... OMIM:618086
Developmental And Epileptic Encephalopathy 105 With Hypopituitarism
Anterior pituitary hypoplasia, Pituitary hypothyroidism OMIM:619983
Hypothyroidism, Congenital, Nongoitrous, 9
Central hypothyroidism, Inappropriately normal thyroid-stimulating hormone level, Decreased circu... OMIM:301035
Charcot-Marie-Tooth Disease, Type 4C
Decreased motor nerve conduction velocity, Abnormal cranial nerve morphology, Prolonged brainstem... OMIM:601596
Precocious Puberty, Central, 1
Hypothyroidism, Elevated circulating follicle stimulating hormone level, Elevated circulating lut... OMIM:176400
Mehmo Syndrome
Decreased response to growth hormone stimulation test, Small for gestational age, Male hypogonadi... OMIM:300148
Chromosome Xq26.3 Duplication Syndrome
Hyperhidrosis, Increased circulating prolactin concentration, Hypopituitarism, Pituitary adenoma,... OMIM:300942
Ovarian Dysgenesis 8
Elevated circulating follicle stimulating hormone level, Elevated circulating luteinizing hormone... OMIM:618187
Gm2 Gangliosidosis, Ab Variant
Exaggerated startle response, Abnormal fear/anxiety-related behavior, Cognitive impairment, Seizu... ORPHA:309246
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Decreased circulating follicle stimulating hormone concentration, Decreased testicular size, Abse... OMIM:614837
Acth Deficiency, Isolated
Decreased circulating cortisol level, Adrenocorticotropic hormone deficiency, Adrenal hypoplasia OMIM:201400
Autoimmune Hemolytic Anemia, Warm Type
Autoimmune hemolytic anemia, Splenomegaly, Lymphoproliferative disorder, Chronic lymphatic leukemia ORPHA:90033
Nasu-Hakola Disease
Acute leukemia ORPHA:2770
Acromelic Frontonasal Dysplasia
Midline central nervous system lipomas, Anterior pituitary hypoplasia, Hypopituitarism, Cryptorch... ORPHA:1827
Ovarian Dysgenesis 10
Decreased serum estradiol, Hypoplasia of the ovary, Delayed puberty, Elevated circulating follicl... OMIM:619834
Tay-Sachs Disease
Exaggerated startle response, Seizure, Apathy, Psychomotor deterioration, Dementia OMIM:272800
Intellectual Developmental Disorder, Autosomal Recessive 54
Delayed speech and language development, Exaggerated startle response, Emotional lability OMIM:617028
Pyoderma Gangrenosum
Myeloid leukemia, Myelodysplasia ORPHA:48104
Pituitary Adenoma 2, Growth Hormone-Secreting
Elevated circulating growth hormone concentration, Pituitary adenoma OMIM:300943
Isolated Follicle Stimulating Hormone Deficiency
Female hypogonadism, Gonadotropin deficiency, Decreased serum estradiol, Decreased testicular siz... ORPHA:52901
46,Xy Sex Reversal 11
Elevated circulating luteinizing hormone level, Absence of pubertal development, Decreased cirrcu... OMIM:273250
Midline Malformations, Multiple, With Limb Abnormalities And Hypopituitarism
Anterior hypopituitarism, Camptodactyly, Joint contracture of the hand OMIM:601016
Ataxia-Telangiectasia
Lymphoma, Hypoplasia of the thymus, T lymphocytopenia, Acute lymphoblastic leukemia, Lymphopenia,... OMIM:208900
Premature Ovarian Failure 8
Decreased serum estradiol, Elevated circulating follicle stimulating hormone level, Elevated circ... OMIM:615723
Temple Syndrome
Precocious puberty, Decreased response to growth hormone stimulation test, Small for gestational ... ORPHA:254516
Shwachman-Diamond Syndrome 1
Acute myeloid leukemia, Anemia, Myelodysplasia, Small for gestational age, Pancytopenia, Persiste... OMIM:260400
Deeah Syndrome
Hypohidrosis, Anterior pituitary hypoplasia, Decreased response to growth hormone stimulation tes... OMIM:619004
Fanconi Anemia, Complementation Group E
Anemia, Reticulocytopenia, Small for gestational age, Pancytopenia, Thrombocytopenia, Neutropenia... OMIM:600901
Asparagine Synthetase Deficiency
Exaggerated startle response, Seizure, Simplified gyral pattern, Hypsarrhythmia, EEG with burst s... OMIM:615574
Rhyns Syndrome
Anterior hypopituitarism, Decreased response to growth hormone stimulation test, Pituitary hypoth... OMIM:602152
Hypertriglyceridemia 1
Hypopituitarism OMIM:145750
Hyperlipoproteinemia, Type Iv
Hypopituitarism OMIM:144600
Chromosome 14Q11-Q22 Deletion Syndrome
Anterior pituitary hypoplasia, Elevated circulating thyroid-stimulating hormone concentration, Bi... OMIM:613457
Kearns-Sayre Syndrome
Anterior hypopituitarism ORPHA:480
Autosomal Dominant Optic Atrophy Plus Syndrome
Absent brainstem auditory responses, Temporal optic disc pallor, Sensorineural hearing impairment... ORPHA:1215
Fanconi Anemia, Complementation Group A
Anemia, Reticulocytopenia, Small for gestational age, Pancytopenia, Thrombocytopenia, Neutropenia... OMIM:227650
X-Linked Hypohidrotic Ectodermal Dysplasia
Anterior hypopituitarism, Hypohidrosis, Type I diabetes mellitus ORPHA:181
Mastocytosis
Sarcoma, Mastocytosis, Acute leukemia, Splenomegaly, Chronic leukemia ORPHA:98292
Pallister-Hall Syndrome
Distal arthrogryposis, Precocious puberty, Gonadotropin deficiency, Decreased testicular size, Hy... ORPHA:672
Shwachman-Diamond Syndrome
Acute myeloid leukemia, Chronic neutropenia, Leukopenia, Anemia, Neutropenia, Myelodysplasia, Imp... ORPHA:811
Lig4 Syndrome
Lymphoma, Leukocytosis, Acute leukemia, Pancytopenia ORPHA:99812
Neurodevelopmental Disorder With Brain Abnormalities, Poor Growth, And Dysmorphic Facies
Failure to thrive, Decreased response to growth hormone stimulation test OMIM:615286
Zollinger-Ellison Syndrome
Multiple lipomas, Pituitary corticotropic cell adenoma, Increased circulating cortisol level, Inc... ORPHA:913
Premature Ovarian Failure 18
Hypoplasia of the ovary, Elevated circulating follicle stimulating hormone level, Elevated circul... OMIM:619203
Multiple Endocrine Neoplasia Type 4
Pituitary corticotropic cell adenoma, Parathyroid adenoma, Hyperinsulinemic hypoglycemia, Pituita... ORPHA:276152
Polycythemia Vera
Acute leukemia, Splenomegaly, Weight loss, Myelodysplasia ORPHA:729
Mohr-Tranebjaerg Syndrome
Postlingual sensorineural hearing impairment, Sensorineural hearing impairment, Prelingual sensor... ORPHA:52368
Bloom Syndrome
Nephroblastoma, Acute myeloid leukemia, Lymphoma, Stomach cancer, Myelodysplasia, Abnormal propor... ORPHA:125
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Adrenocorticotropic hormone excess, Decreased circulating aldosterone level, Decreased circulatin... ORPHA:90793
Blue Diaper Syndrome
Elevated circulating thyroid-stimulating hormone concentration, Decreased circulating T4 concentr... ORPHA:94086
Septopreoptic Holoprosencephaly
Anterior hypopituitarism, Central diabetes insipidus, Precocious puberty ORPHA:280195
Tatton-Brown-Rahman Syndrome
Obesity, Myeloid leukemia, Neuroendocrine neoplasm ORPHA:404443
Hyperthyroidism, Nonautoimmune
Hyperthyroidism, Small for gestational age, Increased circulating T4 concentration, Thyroid hyper... OMIM:609152
Sweet Syndrome
Acute myeloid leukemia, Breast carcinoma, Sterile abscess, Anemia, Chronic lymphatic leukemia, Ne... ORPHA:3243
Acrocraniofacial Dysostosis
Abnormal auditory evoked potentials, Conductive hearing impairment, Sensorineural hearing impairment OMIM:201050
Prolactinoma
Female hypogonadism, Hypogonadism, Anterior hypopituitarism, Decreased circulating ACTH level, Ad... ORPHA:2965
Combined Oxidative Phosphorylation Deficiency 25
Decreased response to growth hormone stimulation test OMIM:616430
Developmental And Epileptic Encephalopathy 8
Exaggerated startle response, Tonic seizure, Bilateral tonic-clonic seizure, Frontal polymicrogyr... OMIM:300607
Diffuse Cutaneous Mastocytosis
Lymphocytosis, Abnormality of the spleen, Myeloproliferative disorder ORPHA:79456
Multiple Endocrine Neoplasia, Type I
Increased circulating prolactin concentration, Parathyroid adenoma, Increased circulating cortiso... OMIM:131100
Gm2-Gangliosidosis, Ab Variant
Myoclonic seizure, Exaggerated startle response, Seizure, Apathy, Dementia, Dystonia OMIM:272750
Stiff Person Spectrum Disorder
Exaggerated startle response, Falls, Emotional lability, Difficulty walking, Anxiety, Agoraphobia ORPHA:3198
Short Stature-Wormian Bones-Dextrocardia Syndrome
Anterior hypopituitarism, Camptodactyly of finger, Cryptorchidism ORPHA:2863
Fanconi Anemia, Complementation Group C
Anemia, Reticulocytopenia, Small for gestational age, Pancytopenia, Thrombocytopenia, Neutropenia... OMIM:227645
Short-Rib Thoracic Dysplasia 21 Without Polydactyly
Small pituitary gland, Flexion contracture OMIM:619479
Isolated Exencephaly
Posterior pituitary agenesis, Anterior pituitary hypoplasia, Maternal diabetes ORPHA:563612
Nelson Syndrome
Diabetes insipidus, Increased circulating prolactin concentration, Pituitary corticotropic cell a... ORPHA:199244
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Abnormal auditory evoked potentials, Optic disc pallor OMIM:617523
Rothmund-Thomson Syndrome Type 1
Anemia, Myelodysplasia, Small for gestational age, Squamous cell carcinoma, Melanoma, Basal cell ... ORPHA:221008
Retinoblastoma
Lymphoma, Retinoblastoma, Leiomyosarcoma, Melanoma, Ewing sarcoma, Pineoblastoma, Osteosarcoma, G... ORPHA:790
Rothmund-Thomson Syndrome Type 2
Lymphoma, Anemia, Myelodysplasia, Small for gestational age, Squamous cell carcinoma, Melanoma, B... ORPHA:221016
Rothmund-Thomson Syndrome
Anemia, Myelodysplasia, Small for gestational age, Squamous cell carcinoma, Melanoma, Basal cell ... ORPHA:2909
Porphyria Due To Ala Dehydratase Deficiency
Abnormal erythrocyte enzyme level, Myeloproliferative disorder ORPHA:100924
Cerebellar Dysfunction, Impaired Intellectual Development, And Hypogonadotropic Hypogonadism
Decreased circulating follicle stimulating hormone concentration, Delayed puberty, Cryptorchidism... OMIM:619761
Tay-Sachs Disease
Exaggerated startle response, Typical absence seizure, Seizure, Anxiety, Inability to walk, Myocl... ORPHA:845
Developmental And Epileptic Encephalopathy 68
Failure to thrive, Myoclonus, Status epilepticus, Exaggerated startle response OMIM:618201
Aromatic L-Amino Acid Decarboxylase Deficiency
Exaggerated startle response, Blepharospasm, Limb dystonia, Myoclonus, Choreoathetosis, Torticoll... OMIM:608643
Galloway-Mowat Syndrome 6
Hypothyroidism, Decreased response to growth hormone stimulation test, Decreased body weight OMIM:618347
Waldenström Macroglobulinemia
Lymphoma, Leukemia, Normocytic anemia, Abnormality of neutrophils, Monoclonal immunoglobulin M pr... ORPHA:33226
Hydranencephaly
Atrophic pituitary gland, Thalamic edema, Dysgenesis of the thalamus ORPHA:2177
Rhyns Syndrome
Hypopituitarism ORPHA:140976
Noonan Syndrome 6
Juvenile myelomonocytic leukemia OMIM:613224
Nijmegen Breakage Syndrome
Lymphoma, Hemolytic anemia, Glioma, Cachexia, B-cell lymphoma, Autoimmune hemolytic anemia, Neopl... ORPHA:647
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4
Leukemia, Myelodysplasia OMIM:619951
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Abnormal auditory evoked potentials, Sensorineural hearing impairment OMIM:109120
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Gait ataxia, Exaggerated startle response, Seizure, Delayed speech and language development, Abse... OMIM:618056
Bone Marrow Failure Syndrome 3
Acute myeloid leukemia, Aplastic anemia, Failure to thrive, Pancytopenia OMIM:617052
Mosaic Variegated Aneuploidy Syndrome 1
Nephroblastoma, Small for gestational age, Embryonal rhabdomyosarcoma, Leukemia OMIM:257300
Prader-Willi Syndrome Due To Translocation
Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Decreased response to growth hormon... ORPHA:177907
Lenz-Majewski Hyperostotic Dwarfism
Knee flexion contracture, Enamel hypoplasia, Anterior pituitary hypoplasia, Elbow flexion contrac... OMIM:151050
Bloom Syndrome
Lymphoma, Small for gestational age, Squamous cell carcinoma, Elevated hemoglobin A1c, Leukemia OMIM:210900
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Abnormal auditory evoked potentials, Optic disc pallor, Sensorineural hearing impairment OMIM:619260
Late-Onset Isolated Acth Deficiency
Weight loss, Decreased circulating ACTH level, Decreased circulating cortisol level, Pituitary ad... ORPHA:199299
Thyroid Hormone Resistance, Selective Pituitary
Impaired sensitivity to thyroid hormone, Hyperthyroidism, Elevated circulating thyroid-stimulatin... OMIM:145650
Hypothyroidism, Congenital, Nongoitrous, 5
Hypothyroidism, Decreased circulating free T4 concentration, Elevated circulating thyroid-stimula... OMIM:225250
Dyrk1A-Related Intellectual Disability Syndrome
Anterior pituitary hypoplasia, Multiple joint contractures, Small for gestational age, Failure to... ORPHA:464306
Blackfan-Diamond Anemia
Acute myeloid leukemia, Leukopenia, Adenocarcinoma of the colon, Reticulocytopenia, Myelodysplasi... ORPHA:124
Multiple Endocrine Neoplasia, Type Iv
Hypothyroidism, Parathyroid adenoma, Pancreatic endocrine tumor, Pituitary adenoma, Carcinoid tum... OMIM:610755
Isolated Thyroid-Stimulating Hormone Deficiency
Macroorchidism, Increased circulating prolactin concentration, Increased pituitary glycoprotein h... ORPHA:90674
Triple A Syndrome
Anterior hypopituitarism, Adrenal insufficiency ORPHA:869
Simple Cryoglobulinemia
Chronic lymphatic leukemia, Weight loss, Multiple myeloma, Monoclonal immunoglobulin M proteinemi... ORPHA:91139
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Knee flexion contracture, Enamel hypoplasia, Flexion contracture, Decreased response to growth ho... OMIM:619503
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures
Exaggerated startle response, Inability to walk, Seizure, Absent speech OMIM:620114
African Trypanosomiasis
Weight loss, Abnormality of circulating cortisol level, Abnormality of renin-angiotensin system, ... ORPHA:3385
Fanconi Anemia, Complementation Group D2
Anemia, Reticulocytopenia, Small for gestational age, Pancytopenia, Thrombocytopenia, Neutropenia... OMIM:227646
Neurodevelopmental Disorder With Seizures, Hypotonia, And Brain Imaging Abnormalities
Hypothyroidism, Decreased response to growth hormone stimulation test, Panhypopituitarism, Lipody... OMIM:618922
Wiskott-Aldrich Syndrome
Lymphoma, Anemia, Hypoplasia of the thymus, Hemolytic anemia, Abnormal eosinophil morphology, Lym... ORPHA:906
Myasthenic Syndrome, Congenital, 22
Decreased response to growth hormone stimulation test OMIM:616224
Neurofibromatosis Type 1
Spinal neurofibromas, Multiple lipomas, Astrocytoma, Urinary tract neoplasm, Neoplasm of the gast... ORPHA:636
Boomerang Dysplasia
Omphalocele, Decreased response to growth hormone stimulation test, Cryptorchidism ORPHA:1263
15Q24 Microdeletion Syndrome
Decreased response to growth hormone stimulation test, Hernia, Small for gestational age, Failure... ORPHA:94065
Late-Infantile/Juvenile Krabbe Disease
EEG with persistent abnormal rhythmic activity, Prolonged brainstem auditory evoked potentials, D... ORPHA:206443
Down Syndrome
Acute megakaryocytic leukemia, Obesity ORPHA:870
Legius Syndrome
Nephroblastoma, Multiple lipomas, Ovarian neoplasm, Neoplasm of the central nervous system, Neuro... ORPHA:137605
4H Leukodystrophy
Hypogonadotropic hypogonadism, Delayed puberty, Decreased response to growth hormone stimulation ... ORPHA:289494
Intellectual Disability-Strabismus Syndrome
Hypothyroidism, Hypohidrosis, Congenital finger flexion contractures, Decreased response to growt... ORPHA:363528
14Q22Q23 Microdeletion Syndrome
Diabetes insipidus, Anterior pituitary hypoplasia, Cryptorchidism, Abnormality of the hypothalamu... ORPHA:264200
Holoprosencephaly 9
Anterior pituitary hypoplasia, Decreased response to growth hormone stimulation test, Panhypopitu... OMIM:610829
Sandhoff Disease
Myoclonic seizure, Exaggerated startle response, Ataxia, Bilateral tonic-clonic seizure, Progress... OMIM:268800
Plaa-Associated Neurodevelopmental Disorder
Exaggerated startle response, Seizure, Abnormal cortical gyration, Hypsarrhythmia, Delayed speech... ORPHA:521426
Pallister-Hall-Like Syndrome
Anterior hypopituitarism, Hypothalamic hamartoma OMIM:241800
Williams-Beuren Region Duplication Syndrome
Small for gestational age, Failure to thrive, Decreased response to growth hormone stimulation te... OMIM:609757
Hypotonia-Cystinuria Syndrome
Failure to thrive, Decreased response to growth hormone stimulation test, Hypergonadotropic hypog... OMIM:606407
Congenital Factor Xiii Deficiency
Myeloid leukemia ORPHA:331
Noonan Syndrome 12
Decreased response to growth hormone stimulation test OMIM:618624
Microphthalmia, Syndromic 3
Hypogonadotropic hypogonadism, Hypothalamic hamartoma, Anterior pituitary hypoplasia, Cryptorchidism OMIM:206900
Idiopathic Hypereosinophilic Syndrome
Anemia, Myelodysplasia, Neutrophilia, Hepatosplenomegaly, Failure to thrive, Thrombocytosis, Eosi... ORPHA:3260
Kallmann Syndrome
Anterior hypopituitarism, Decreased testicular size, Hypothalamic gonadotropin-releasing hormone ... ORPHA:478
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Generalized-onset seizure, Exaggerated startle response, Cognitive impairment, Seizure, Abnormal ... OMIM:617527
Juberg-Hayward Syndrome
Decreased response to growth hormone stimulation test OMIM:216100
Ulnar-Mammary Syndrome
Anterior pituitary hypoplasia, Elbow flexion contracture, Obesity, Axillary apocrine gland hypopl... OMIM:181450
Hypothyroidism, Congenital, Nongoitrous, 1
Hypothyroidism, Elevated circulating thyroid-stimulating hormone concentration, Thyroid hypoplasi... OMIM:275200
Mpdu1-Cdg
Decreased serum insulin-like growth factor 1, Decreased response to growth hormone stimulation test ORPHA:79323
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Decreased testicular size, Decreased response to growth hormone stimulation test, Overweight ORPHA:457240
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Exaggerated startle response, Seizure, Ataxia, Anxiety, Dystonia, Broad-based gait ORPHA:438216
Juvenile Xanthogranuloma
Myeloproliferative disorder ORPHA:158000
Acute Bilirubin Encephalopathy
Abnormal auditory evoked potentials, Sensorineural hearing impairment ORPHA:529799
Chronic Bilirubin Encephalopathy
Abnormal auditory evoked potentials, Sensorineural hearing impairment ORPHA:529808
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Decreased response to growth hormone stimulation test, Adrenal hypoplasia, Cryptorchidism OMIM:614732
Arthrogryposis, Distal, Type 2A
Abnormal auditory evoked potentials, Hearing impairment OMIM:193700
Alstrom Syndrome
Hypothyroidism, Hyperinsulinemia, Diabetes insipidus, Decreased response to growth hormone stimul... OMIM:203800
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1
Failure to thrive, Delayed puberty, Hypopituitarism OMIM:600462
Xq21 Microdeletion Syndrome
Decreased response to growth hormone stimulation test, Anterior hypopituitarism, Anterior pituita... ORPHA:1435
Adult Krabbe Disease
Prolonged brainstem auditory evoked potentials, EEG abnormality ORPHA:206448
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome
Decreased testicular size, Delayed puberty, Decreased response to growth hormone stimulation test... ORPHA:280679
Stiff-Person Syndrome
Exaggerated startle response, Myoclonic spasms, Anxiety, Agoraphobia, Opisthotonus OMIM:184850
17Q11 Microdeletion Syndrome
Glomus jugular tumor, Breast carcinoma, Myelodysplasia, Atypical neurofibromatosis, Brainstem gli... ORPHA:97685
Spastic Tetraplegia And Axial Hypotonia, Progressive
Ataxia, Exaggerated startle response, Absent speech OMIM:618598
Sandhoff Disease, Infantile Form
Myoclonic seizure, Exaggerated startle response, Seizure, Myoclonus, Bilateral tonic-clonic seizure ORPHA:309155
Mosaic Variegated Aneuploidy Syndrome
Nephroblastoma, Stomach cancer, Myelodysplasia, Vaginal neoplasm, Acute lymphoblastic leukemia, I... ORPHA:1052
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hypothyroidism, Hypopituitarism OMIM:619013
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome
Anterior pituitary hypoplasia, Bilateral cryptorchidism, Supernumerary nipple, Failure to thrive,... ORPHA:466791
Silver-Russell Syndrome 1
Small for gestational age, Testicular seminoma, Decreased response to growth hormone stimulation ... OMIM:180860
Cohen Syndrome
Small for gestational age, Delayed puberty, Decreased response to growth hormone stimulation test... OMIM:216550
Congenital Hypothyroidism
Hypothyroidism, Hypogonadism, Anterior hypopituitarism, Abnormality of the thyroid gland, Umbilic... ORPHA:442
Noonan Syndrome 2
Leukemia OMIM:605275
Hyperekplexia 1
Exaggerated startle response, Myoclonus, Nocturnal seizures, Seizure OMIM:149400
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Congenital hypoparathyroidism, Decreased response to growth hormone stimulation test, Decreased c... OMIM:241410
Adult-Onset Autosomal Dominant Leukodystrophy
Sensorineural hearing impairment, Abnormality of somatosensory evoked potentials, Abnormal audito... ORPHA:99027
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Absent brainstem auditory responses, Vestibular areflexia ORPHA:3240
Dubowitz Syndrome
Lymphoma, Anemia, Acute lymphoblastic leukemia, Abnormality of neutrophils, Neoplasm, Thrombocyto... ORPHA:235
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Elevated circulating thyroid-stimulating hormone concentration, Gonadotropin deficiency, Decrease... OMIM:610978
Hyperekplexia 3
Bilateral tonic-clonic seizure, Myoclonus, Exaggerated startle response OMIM:614618
Giant Axonal Neuropathy
Abnormality of the pituitary gland ORPHA:643
Cataract-Growth Hormone Deficiency-Sensory Neuropathy-Sensorineural Hearing Loss-Skeletal Dysplasia Syndrome
Decreased response to growth hormone stimulation test ORPHA:436174
Ellis Van Creveld Syndrome
Failure to thrive, Acute leukemia ORPHA:289
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome
Acute lymphoblastic leukemia, Large for gestational age OMIM:280000
Infantile Krabbe Disease
Prolonged brainstem auditory evoked potentials, Decreased nerve conduction velocity, Hearing impa... ORPHA:206436
Acrodysostosis 1 With Or Without Hormone Resistance
Elevated circulating thyroid-stimulating hormone concentration, Hypogonadism, Small for gestation... OMIM:101800
Charcot-Marie-Tooth Disease Type 1F
Absent brainstem auditory responses, Decreased nerve conduction velocity, Sensorineural hearing i... ORPHA:101085
Rubinstein-Taybi Syndrome 1
Leukemia, Small for gestational age, Capillary hemangioma, Failure to thrive, Neoplasm, Accessory... OMIM:180849
Dyskeratosis Congenita, X-Linked
Acute myeloid leukemia, Leukopenia, Anemia, Oropharyngeal squamous cell carcinoma, Myelodysplasia... OMIM:305000
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, Genital Anomalies, And Immunodeficiency
Bilateral cryptorchidism, Congenital adrenal hypoplasia, Decreased response to growth hormone sti... OMIM:618336
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Decreased testicular size, Decreased response to growth hormone stimulation test, Hypergonadotrop... OMIM:300845
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Exaggerated startle response, Seizure OMIM:618367
16P12.1P12.3 Triplication Syndrome
Failure to thrive, Bilateral cryptorchidism, Decreased response to growth hormone stimulation test ORPHA:485405
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia
Failure to thrive, Juvenile myelomonocytic leukemia, Splenomegaly, Hepatosplenomegaly OMIM:613563
Anterior Chamber Cleavage Disorder, Cerebellar Hypoplasia, Hypothyroidism, And Tracheal Stenosis
Congenital hypothyroidism, Decreased response to growth hormone stimulation test OMIM:601427
Dubowitz Syndrome
Lymphoma, Aplastic anemia, Neuroblastoma, Acute lymphoblastic leukemia OMIM:223370
Solitary Median Maxillary Central Incisor
Anterior hypopituitarism, Decreased response to growth hormone stimulation test OMIM:147250
Schinzel-Giedion Syndrome
Nephroblastoma, Myeloid leukemia, Ependymoma, Hepatoblastoma, Teratoma, Facial hemangioma, Failur... ORPHA:798
Acrootoocular Syndrome
Small for gestational age, Failure to thrive, Decreased response to growth hormone stimulation te... ORPHA:2980
Srd5A3-Cdg
Hypothyroidism, Decreased response to growth hormone stimulation test ORPHA:324737
Fanconi Anemia, Complementation Group I
Hypothyroidism, Decreased response to growth hormone stimulation test, Decreased body weight OMIM:609053
Chilton-Okur-Chung Neurodevelopmental Syndrome
Anterior pituitary hypoplasia, Aplasia of the right hemidiaphragm, Cryptorchidism OMIM:619841
Isolated Biliary Atresia
Hypothyroidism, Atretic gallbladder, Small for gestational age, Hypopituitarism, Failure to thriv... ORPHA:30391
Igg4-Related Thyroid Disease
Hypothyroidism, Nodular goiter, Thyroiditis, Thyrotoxicosis with diffuse goiter, Graves disease, ... ORPHA:64744
Pseudohypoparathyroidism Type 1B
Enamel hypoplasia, Decreased response to growth hormone stimulation test, Elevated circulating pa... ORPHA:94089
Trichothiodystrophy 5, Nonphotosensitive
Decreased testicular size, Panhypopituitarism OMIM:300953
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Sensorineural hearing impairment, Abnormal autonomic nervous system physiology, Aganglionic megac... OMIM:609136
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Lymphoma, Leukemia ORPHA:2526
Cockayne Syndrome Type 1
Macrotia, Abnormality of peripheral nerve conduction, Optic atrophy, Absent brainstem auditory re... ORPHA:90321
Webb-Dattani Syndrome
Diabetes insipidus, Decreased response to growth hormone stimulation test, Pituitary hypothyroidi... OMIM:615926
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Exaggerated startle response, Inability to walk OMIM:609541
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Exaggerated startle response, Seizure, Agyria, Lissencephaly, Type II lissencephaly, Pachygyria, ... OMIM:253800
Trisomy 10P
Macrotia, Low voltage EEG, EEG with burst suppression, EEG with focal spikes, Abnormal auditory e... ORPHA:171929
Cryptococcosis
Neoplasm, Lymphoid leukemia ORPHA:1546
Chronic Thromboembolic Pulmonary Hypertension
Obesity, Neoplasm, Myeloproliferative disorder ORPHA:70591
Pallister-Hall Syndrome
Precocious puberty, Decreased response to growth hormone stimulation test, Neonatal death, Decrea... OMIM:146510
Hyperekplexia 2
Myoclonus, Exaggerated startle response OMIM:614619
Ritscher-Schinzel Syndrome 1
Decreased response to growth hormone stimulation test, Adrenal hypoplasia OMIM:220210
Immunodeficiency, Common Variable, 10
Decreased response to growth hormone stimulation test, Abnormal response to ACTH stimulation test... OMIM:615577
Pycnodysostosis
Enamel hypoplasia, Decreased serum insulin-like growth factor 1, Decreased response to growth hor... ORPHA:763
Snakebite Envenomation
Hypopituitarism ORPHA:449285
Prader-Willi Syndrome
Failure to thrive in infancy, Hyperinsulinemia, Precocious puberty, Decreased response to growth ... OMIM:176270
Dominant Beta-Thalassemia
Hypothyroidism, Adrenal insufficiency, Hypopituitarism, Diabetes mellitus, Delayed puberty, Hypop... ORPHA:231226
Short Stature, Oligodontia, Dysmorphic Facies, And Motor Delay
Hypothyroidism, Bilateral camptodactyly, Decreased response to growth hormone stimulation test, D... OMIM:619234
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Exaggerated startle response, Difficulty walking ORPHA:320406
Mogs-Cdg
Absent brainstem auditory responses, Sensorineural hearing impairment, Optic atrophy ORPHA:79330
Biliary, Renal, Neurologic, And Skeletal Syndrome
Diabetes insipidus, Anterior pituitary hypoplasia, Failure to thrive, Inguinal hernia, Bile duct ... OMIM:619534
Gomez-Lopez-Hernandez Syndrome
Decreased response to growth hormone stimulation test OMIM:601853
Cardiofaciocutaneous Syndrome 4
Hyperhidrosis, Decreased response to growth hormone stimulation test OMIM:615280
Down Syndrome
Acute megakaryocytic leukemia, Myeloproliferative disorder OMIM:190685
Chime Syndrome
Acute leukemia ORPHA:3474
Acrodysostosis With Multiple Hormone Resistance
Decreased response to growth hormone stimulation test, Hypogonadism, Elevated calcitonin, Diabete... ORPHA:280651
Cerebrotendinous Xanthomatosis
Abnormality of somatosensory evoked potentials, Optic atrophy, Abnormal auditory evoked potential... ORPHA:909
Woodhouse-Sakati Syndrome
Hypothyroidism, Hyperinsulinemia, Decreased response to growth hormone stimulation test, Decrease... ORPHA:3464
Frontorhiny
Camptodactyly of finger, Diabetes insipidus, Hypopituitarism, Pericallosal lipoma ORPHA:391474
Beta-Thalassemia Major
Hypothyroidism, Adrenal insufficiency, Hypopituitarism, Diabetes mellitus, Delayed puberty, Hypop... ORPHA:231214
Fanconi Anemia, Complementation Group W
Decreased response to growth hormone stimulation test OMIM:617784
Noonan Syndrome 3
Juvenile myelomonocytic leukemia OMIM:609942
Aicardi-Goutières Syndrome
Neonatal alloimmune thrombocytopenia, Chronic lymphatic leukemia, Enchondroma, Hepatosplenomegaly ORPHA:51
Microform Holoprosencephaly
Hypothyroidism, Maternal diabetes, Panhypopituitarism ORPHA:280200
Somatomammotropinoma
Hyperhidrosis, Increased circulating prolactin concentration, Anterior hypopituitarism, Pituitary... ORPHA:314769
Acquired Aneurysmal Subarachnoid Hemorrhage
Hypothyroidism, Hypopituitarism ORPHA:90065
Chromosome 18Q Deletion Syndrome
Decreased response to growth hormone stimulation test, Inguinal hernia, Cryptorchidism, Failure t... OMIM:601808
Poland Syndrome
Retinal hamartoma, Acute leukemia, Neoplasm of the breast ORPHA:2911
Meier-Gorlin Syndrome 6
Decreased response to growth hormone stimulation test, Small for gestational age, Failure to thri... OMIM:616835
Duplication Of The Pituitary Gland
Abnormality of the pituitary gland, Decreased body weight, Abnormal hypothalamus morphology ORPHA:314621
Holoprosencephaly
Diabetes insipidus, Anterior hypopituitarism, Panhypopituitarism, Diabetes mellitus, Congenital d... ORPHA:2162
Cockayne Syndrome B
Sensorineural hearing impairment, Optic atrophy, Abnormal auditory evoked potentials, Decreased n... OMIM:133540
Cockayne Syndrome A
Sensorineural hearing impairment, Optic atrophy, Abnormal auditory evoked potentials, Decreased n... OMIM:216400
Maternal Uniparental Disomy Of Chromosome 2
Hypothyroidism, Bilateral cryptorchidism, Contractures of the large joints, Decreased response to... ORPHA:96179
Mosaic Variegated Aneuploidy Syndrome 2
Small for gestational age, Hypothyroidism, Decreased response to growth hormone stimulation test OMIM:614114
Borjeson-Forssman-Lehmann Syndrome
Obesity, Seizure, EEG abnormality OMIM:301900
Noonan Syndrome 1
Amegakaryocytic thrombocytopenia, Juvenile myelomonocytic leukemia, Failure to thrive in infancy,... OMIM:163950
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7
Hyperhidrosis, Precocious puberty, Decreased response to growth hormone stimulation test, Small f... ORPHA:96182
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Central hypothyroidism, Increased circulating prolactin concentration, Hypohidrosis, Gonadotropin... ORPHA:293987
Fanconi Anemia, Complementation Group F
Failure to thrive, Decreased response to growth hormone stimulation test, Cryptorchidism OMIM:603467
Acromegaly
Hyperhidrosis, Anterior hypopituitarism, Diabetes mellitus, Pituitary prolactin cell adenoma, Pit... ORPHA:963
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism
Delayed puberty, Decreased response to growth hormone stimulation test OMIM:615866
Chronic Visceral Acid Sphingomyelinase Deficiency
Hypersplenism, Neoplasm of the liver, Acute promyelocytic leukemia, Autoimmune thrombocytopenia, ... ORPHA:77293
Mend Syndrome
Abnormal auditory evoked potentials, Low-set ears ORPHA:401973
Gm1 Gangliosidosis Type 1
Exaggerated startle response, Dystonia, Seizure ORPHA:79255
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Exaggerated startle response OMIM:608800
Eec Syndrome
Hypohidrosis, Hypoplasia of the thymus, Decreased response to growth hormone stimulation test, An... ORPHA:1896
Acromelic Frontonasal Dysostosis
Tubulonodular pericallosal lipoma, Hypopituitarism, Lipoma, Cryptorchidism OMIM:603671
Leukocyte Adhesion Deficiency
Acute myeloid leukemia, Perianal abscess, Impaired neutrophil chemotaxis, Polycythemia, Thrombocy... ORPHA:2968
Histiocytosis-Lymphadenopathy Plus Syndrome
Camptodactyly of finger, Pancreatic hypoplasia, Decreased response to growth hormone stimulation ... OMIM:602782
Semilobar Holoprosencephaly
Central hypothyroidism, Diabetes insipidus, Flexion contracture, Decreased response to growth hor... ORPHA:220386
Alobar Holoprosencephaly
Central hypothyroidism, Diabetes insipidus, Flexion contracture, Decreased response to growth hor... ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Central hypothyroidism, Diabetes insipidus, Flexion contracture, Decreased response to growth hor... ORPHA:93926
Lobar Holoprosencephaly
Central hypothyroidism, Diabetes insipidus, Flexion contracture, Decreased response to growth hor... ORPHA:93924
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia
Flexion contracture, Decreased response to growth hormone stimulation test, Central adrenal insuf... OMIM:616007
17Q24.2 Microdeletion Syndrome
Pineal cyst, Failure to thrive in infancy, Decreased response to growth hormone stimulation test,... ORPHA:529962
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Decreased response to growth hormone stimulation test, Hashimoto thyroiditis, Contracture of the ... OMIM:618223
Tbck-Related Intellectual Disability Syndrome
Hypothyroidism, Hyperthyroidism, Decreased response to growth hormone stimulation test, Cryptorch... ORPHA:488632
Glycine Encephalopathy With Normal Serum Glycine
Exaggerated startle response OMIM:617301
Spondyloenchondrodysplasia
Hypothyroidism, Decreased response to growth hormone stimulation test ORPHA:1855
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Delayed puberty, Decreased response to growth hormone stimulation test, Prostatitis OMIM:307200
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Hypothyroidism, Premature thelarche, Decreased response to growth hormone stimulation test, Small... ORPHA:268261
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Exaggerated startle response, Generalized tonic seizure, Seizure, Inability to walk, Myoclonus, A... ORPHA:438213
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Inguinal hernia, Large for gestational age, Decreased response to growth hormone stimulation test... OMIM:213980
Sotos Syndrome
Astrocytoma, Acute lymphoblastic leukemia, Cholesteatoma, Small cell lung carcinoma, Hemangioma, ... ORPHA:821
Wiedemann-Steiner Syndrome
Failure to thrive, Decreased response to growth hormone stimulation test ORPHA:319182
Pearson Syndrome
Hypothyroidism, Decreased response to growth hormone stimulation test, Adrenal insufficiency, Sma... ORPHA:699
Wiedemann-Rautenstrauch Syndrome
Increased serum estradiol, Camptodactyly of finger, Increased circulating prolactin concentration... ORPHA:3455
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria
Acute myelomonocytic leukemia, Multiple enchondromatosis, Cavernous hemangioma of the face, Failu... ORPHA:99646
Steinert Myotonic Dystrophy
Hyperinsulinemia, Decreased response to growth hormone stimulation test, Abnormality of thyroid p... ORPHA:273
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies
Decreased response to growth hormone stimulation test OMIM:617260
Koolen-De Vries Syndrome Due To A Point Mutation
Hypothyroidism, Precocious puberty, Decreased response to growth hormone stimulation test, Slende... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Hypothyroidism, Precocious puberty, Decreased response to growth hormone stimulation test, Slende... ORPHA:363958
Helsmoortel-Van Der Aa Syndrome
Decreased response to growth hormone stimulation test, Pineal cyst, Failure to thrive, Truncal ob... OMIM:615873
Holoprosencephaly 7
Omphalocele, Fusion of the left and right thalami, Panhypopituitarism OMIM:610828
Gabriele-De Vries Syndrome
Hypothyroidism, Distal arthrogryposis, Decreased response to growth hormone stimulation test, Sma... ORPHA:506358
Hartsfield Syndrome
Diabetes insipidus, Gonadotropin deficiency, Cryptorchidism OMIM:615465
Microphthalmia, Syndromic 6
Female hypogonadism, Hypothyroidism, Anterior hypopituitarism, Failure to thrive, Cryptorchidism,... OMIM:607932
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Decreased response to growth hormone stimulation test, Absence of Stensen duct, Central diabetes ... OMIM:129900
Charge Syndrome
Anterior hypopituitarism, Delayed puberty, Abnormality of the adrenal glands, Cryptorchidism, Hyp... ORPHA:138
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3
Decreased response to growth hormone stimulation test, Absence of Stensen duct, Central diabetes ... OMIM:604292
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Hypothyroidism, Obesity, Decreased response to growth hormone stimulation test ORPHA:444077
Charge Syndrome
Hypothyroidism, Gonadotropin deficiency, Decreased response to growth hormone stimulation test, A... OMIM:214800
Lysinuric Protein Intolerance
Failure to thrive, Decreased response to growth hormone stimulation test, Pancreatitis ORPHA:470
Peters Plus Syndrome
Anterior hypopituitarism, Inguinal hernia, Cryptorchidism, Congenital hypothyroidism, Umbilical h... ORPHA:709
Witteveen-Kolk Syndrome
Decreased response to growth hormone stimulation test, Small for gestational age, Type II diabete... OMIM:613406
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Delayed speech and language development, Exaggerated startle response, Seizure OMIM:619522
Alström Syndrome