Gene: Phf6 MGI:1918248

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Gene Summary

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

IMPC Data Collections

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.

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

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lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

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
Seizure, EEG abnormality, Obesity OMIM:301900
Borjeson-Forssman-Lehmann Syndrome
Cryptorchidism, Camptodactyly of toe, Truncal obesity, Decreased testicular size, Hypogonadism, M... 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
Acute lymphoblastic leukemia, Lymphoma, T-cell acute lymphoblastic leukemias OMIM:247640
Deafness, Autosomal Recessive 9
Absent brainstem auditory responses, Sensorineural hearing impairment OMIM:601071
Electroencephalographic Peculiarity: 14 And 6 Per Sec. Positive Spike Phenomenon
EEG abnormality OMIM:130200
Electroencephalographic Peculiarity: Fronto-Precentral Beta Wave Groups
EEG abnormality OMIM:130300
Myeloproliferative Syndrome, Transient
Leukocytosis, Transient myeloproliferative syndrome 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
Myeloproliferative disorder, Malignant eosinophil proliferation, Eosinophilia OMIM:131440
Glioma Susceptibility 9
Leukemia, Glioma, Astrocytoma OMIM:616568
Macroglobulinemia, Waldenstrom, Susceptibility To, 1
Impaired lymphocyte transformation with phytohemagglutinin, Monoclonal immunoglobulin M proteinem... OMIM:153600
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
Erythroleukemia, Familial, Susceptibility To
Refractory anemia with ringed sideroblasts, Erythroid hyperplasia, Thrombocytopenia, Acute myeloi... OMIM:133180
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults
Acute myeloid leukemia, Neutropenia OMIM:607847
Hypothyroidism, Central, With Testicular Enlargement
Overweight, Hypothyroidism, Inappropriately normal thyroid-stimulating hormone level, Reduced TSH... OMIM:300888
Isolated Growth Hormone Deficiency, Type Iv
Anterior pituitary hypoplasia, Impaired growth-hormone response to insulin stimulation test, Decr... OMIM:618157
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Thrombocytopenia, Acute myeloid leukemia, Myelodysplasia, Increased mean corpuscular volume OMIM:252270
Leukemia, Acute Myelocytic, With Polyposis Coli And Colon Cancer
Acute myeloid leukemia, Adenomatous colonic polyposis, Colon cancer OMIM:246470
Mismatch Repair Cancer Syndrome 2
Glioblastoma multiforme, Colon cancer, T-cell acute lymphoblastic leukemias OMIM:619096
Growth Hormone Deficiency, Isolated Partial
Small pituitary gland, Decreased response to growth hormone stimuation test OMIM:615925
Prolactin Deficiency With Obesity And Enlarged Testes
Reduced circulating prolactin concentration, Macroorchidism, Obesity OMIM:264120
Leukemia, Chronic Lymphocytic, Susceptibility To, 2
Chronic lymphatic leukemia OMIM:109543
Leukemia, Chronic Lymphocytic
Chronic lymphatic leukemia OMIM:151400
Nut Midline Carcinoma
Neuroblastoma, Pancreatic squamous cell carcinoma, Neoplasm, Oropharyngeal squamous cell carcinom... ORPHA:443167
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Seizure, Abnormal social behavior, EEG abnormality, Hyperactivity ORPHA:436151
Post-Traumatic Pituitary Deficiency
Panhypopituitarism, Decreased circulating ACTH level, Pituitary hypothyroidism, Delayed puberty, ... ORPHA:95619
Li-Fraumeni Syndrome
Non-Hodgkin lymphoma, Ovarian neoplasm, Neoplasm, Colorectal polyposis, Hodgkin lymphoma, Breast ... ORPHA:524
Isolated Growth Hormone Deficiency, Type V
Microcephaly, Truncal obesity, Decreased response to growth hormone stimuation test, Abdominal ob... OMIM:618160
Pituitary Carcinoma
Pituitary growth hormone cell adenoma, Elevated circulating growth hormone concentration, Pituita... ORPHA:300385
Li-Fraumeni Syndrome
Prostate cancer, Prostate neoplasm, Soft tissue sarcoma, Lung adenocarcinoma, Nephroblastoma, Ost... OMIM:151623
Pituitary Hormone Deficiency, Combined, 2
Panhypopituitarism, Hypothyroidism, Adrenal insufficiency, Reduced circulating prolactin concentr... OMIM:262600
Pyknoachondrogenesis
Stillbirth OMIM:265880
Obesity Due To Prohormone Convertase I Deficiency
Hyperinsulinemia, Pituitary hypothyroidism, Central adrenal insufficiency, Decreased response to ... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Hyperinsulinemia, Pituitary hypothyroidism, Central adrenal insufficiency, Decreased response to ... ORPHA:71526
Abcd Syndrome
Hearing impairment, Abnormal auditory evoked potentials, Aganglionic megacolon OMIM:600501
Ane Syndrome
Abnormal response to ACTH stimulation test, Adrenocorticotropin deficient adrenal insufficiency, ... ORPHA:157954
Isolated Growth Hormone Deficiency, Type Ib
Decreased response to growth hormone stimuation test OMIM:612781
Fanconi Anemia, Complementation Group G
Myelodysplasia, Neutropenia, Thrombocytopenia, Anemia, Leukemia OMIM:614082
Arthrogryposis, distal, with hypopituitarism, mental retardation,and facial anomalies
Camptodactyly of finger, Arthrogryposis multiplex congenita, Distal arthrogryposis, Anterior hypo... OMIM:208080
Non-Acquired Combined Pituitary Hormone Deficiency-Sensorineural Hearing Loss-Spine Abnormalities Syndrome
Hypothalamic luteinizing hormone-releasing hormone deficiency, Pituitary hypothyroidism, Decrease... ORPHA:231720
Intellectual Developmental Disorder, X-Linked, With Panhypopituitarism
Panhypopituitarism, Hypothyroidism, Decreased response to growth hormone stimuation test OMIM:300123
Prolactin Deficiency, Isolated
Reduced circulating prolactin concentration OMIM:264110
Immunodeficiency 21
Myeloid leukemia, Myelodysplasia, Monocytopenia, Abnormal natural killer cell morphology, Lymphop... OMIM:614172
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials, Facial palsy OMIM:601382
Leukemia, Chronic Myeloid
Chronic myelogenous leukemia, Ph-positive acute lymphoblastic leukemia OMIM:608232
Resistance To Thyrotropin-Releasing Hormone Syndrome
Overweight, Decreased circulating T4 level, Pituitary hypothyroidism, Decreased circulating free ... ORPHA:99832
Pituitary Dwarfism With Large Sella Turcica
Hypothyroidism, Decreased response to growth hormone stimuation test OMIM:262710
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To
Myelodysplasia, Monocytosis, Lymphoma, Acute myeloid leukemia, Leukopenia, Refractory anemia OMIM:616871
Functioning Gonadotropic Adenoma
Panhypopituitarism, Ovarian cyst, Increased circulating gonadotropin level, Anterior hypopituitar... ORPHA:91348
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Congenital agranulocytosis, Monocytosis, Thrombocytosis, Acute monocytic leukemia, Neutropenia, A... OMIM:202700
Pituitary Hormone Deficiency, Combined, 3
Anterior pituitary hypoplasia, Decreased response to growth hormone stimuation test, Anterior hyp... OMIM:221750
Pituicytoma
Abnormality of the pituitary gland, Pituicytoma, Abnormality of circulating adrenocorticotropin l... ORPHA:251623
Isolated Growth Hormone Deficiency, Type Ia
Impaired growth-hormone response to insulin stimulation test, Decreased response to growth hormon... OMIM:262400
Ras-Associated Autoimmune Leukoproliferative Disorder
Lymphocytosis, Lymphoproliferative disorder, Monocytosis, Hemolytic anemia, Autoimmune thrombocyt... OMIM:614470
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Myelodysplasia, Neutropenia, Thrombocytopenia, Acute myeloid leukemia, Pancytopenia, Anemia, Incr... OMIM:619041
Non-Functioning Pituitary Adenoma
Male hypogonadism, Pituitary hypothyroidism, Adrenocorticotropin deficient adrenal insufficiency,... ORPHA:91349
Congenital Disorder Of Glycosylation, Type Iiq
Hypoplasia of the corpus callosum, Small pituitary gland, Secondary microcephaly, Diffuse cerebra... OMIM:617395
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 2
Myeloid leukemia, Aplastic anemia, Pancytopenia, Leukemia OMIM:614743
Panhypophysitis
Panhypopituitarism, Adrenocorticotropin deficient adrenal insufficiency, Decreased circulating co... ORPHA:95513
Isolated Growth Hormone Deficiency, Type Ii
Decreased response to growth hormone stimuation test OMIM:173100
Myelocytic Leukemia-Like Syndrome, Familial, Chronic
Chronic myelogenous leukemia OMIM:600080
Alpha-Thalassemia-Myelodysplastic Syndrome
Myelodysplasia, Microcytic anemia, Neutropenia, Thrombocytopenia, HbH hemoglobin, Splenomegaly, A... ORPHA:231401
Adenohypophysitis
Panhypopituitarism, Adrenocorticotropin deficient adrenal insufficiency, Decreased circulating co... ORPHA:95512
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Hypogonadotropic hypogonadism, Breast hypoplasia, Absence of secondary sex characteristics, Hypot... ORPHA:2235
Chromosome 14Q32 Duplication Syndrome, 700-Kb
Myeloid leukemia OMIM:616604
Unclassified Myelodysplastic Syndrome
Leukocytosis, Acute myeloid leukemia, Myelodysplasia, Multiple lineage myelodysplasia ORPHA:98827
Generalized Eruptive Histiocytosis
Histiocytosis, Leukemia, Hypereosinophilia ORPHA:157991
X-Linked Acrogigantism
Increased serum insulin-like growth factor 1, Abnormality of the pituitary gland, Elevated circul... ORPHA:300373
Fanconi Anemia, Complementation Group D1
Acute myeloid leukemia, Failure to thrive, T-cell acute lymphoblastic leukemias OMIM:605724
N Syndrome
Neoplasm, Leukemia OMIM:310465
Pulmonary Hypoplasia, Primary
Neonatal death OMIM:265430
Septooptic Dysplasia
Absent septum pellucidum, Anterior pituitary hypoplasia, Diabetes insipidus, Agenesis of corpus c... OMIM:182230
Hypereosinophilic Syndrome, Idiopathic
Myeloproliferative disorder, Eosinophilia, Splenomegaly OMIM:607685
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia
Cryptorchidism, Decreased testicular size, Small pituitary gland OMIM:614880
Polyendocrine-Polyneuropathy Syndrome
Decreased circulating follicle stimulating hormone concentration, Central hypothyroidism, Decreas... ORPHA:453533
Platelet Disorder, Familial, With Associated Myeloid Malignancy
Myelodysplasia, Acute monocytic leukemia, Abnormal alpha granule content, Neuroblastoma, Abnormal... OMIM:601399
X-Linked Intellectual Disability With Isolated Growth Hormone Deficiency
Decreased serum insulin-like growth factor 1, Hypoplasia of the corpus callosum, Ectopic posterio... ORPHA:67045
Neutropenia, Severe Congenital, 3, Autosomal Recessive
Acute lymphoblastic leukemia, Myelodysplasia, Neutropenia OMIM:610738
Storage Pool Platelet Disease
Myelodysplasia, Decreased mean platelet volume, Acute leukemia OMIM:185050
Lymphedema, Primary, With Myelodysplasia
Pancytopenia, Myelodysplasia, Leukemia OMIM:614038
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Erythroid hypoplasia, Myelodysplasia, Thrombocytosis, Abnormal erythrocyte morphology, Acute myel... ORPHA:86841
Optic Atrophy 8
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Prolonged somatosensory ev... OMIM:616648
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Adrenal hypoplasia, Decreased response to growth hormone stimuation test, Obesity, Adrenal insuff... OMIM:609734
Acute Promyelocytic Leukemia
Acute promyelocytic leukemia OMIM:612376
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Panhypopituitarism, Decreased circulating ACTH level, Overweight, Decreased circulating follicle ... ORPHA:226307
Immunodeficiency, Common Variable, 13
Pancytopenia, Acute lymphoblastic leukemia, B lymphocytopenia OMIM:616873
Bonnemann-Meinecke-Reich Syndrome
Microcephaly, Cerebral calcification, Decreased response to growth hormone stimuation test ORPHA:1261
Gangliocytoma
Abnormality of the pituitary gland, Elevated circulating growth hormone concentration, Pituitary ... ORPHA:251937
Primary Erythromelalgia
Leukemia ORPHA:90026
Hernia, Anterior Diaphragmatic
Neonatal death OMIM:306950
Cutaneous Neuroendocrine Carcinoma
Basal cell carcinoma, Multiple myeloma, Neoplasm of the outer ear, Carcinoid tumor, Brain neoplas... ORPHA:79140
Hypogonadotropic Hypogonadism 6 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Small pituitary gland OMIM:612702
Chronic Myeloid Leukemia
Thrombocytosis, Abnormal basophil morphology, Leukocytosis, Abnormal granulocyte morphology, Thro... ORPHA:521
Cog2-Cdg
Hypoplasia of the corpus callosum, Small pituitary gland, Secondary microcephaly, Diffuse cerebra... ORPHA:435934
Sheehan Syndrome
Gonadotropin deficiency, Panhypopituitarism, Adrenocorticotropin deficient adrenal insufficiency,... ORPHA:91355
Oliver-Mcfarlane Syndrome
Cryptorchidism, Delayed puberty, Small for gestational age, Hypogonadotropic hypogonadism, Decrea... OMIM:275400
Pituitary Apoplexy
Elevated circulating growth hormone concentration, Increased circulating cortisol level, Abnormal... ORPHA:95613
Acquired Idiopathic Sideroblastic Anemia
Myelodysplasia, Hypochromic anemia, Thrombocytosis, Leukocytosis, Refractory anemia with ringed s... ORPHA:75564
Epilepsy, Familial Adult Myoclonic, 2
Tremor, EEG with photoparoxysmal response, Dementia, Blepharospasm, Ataxia, Bilateral tonic-cloni... OMIM:607876
Mismatch Repair Cancer Syndrome 1
Non-Hodgkin lymphoma, Basal cell carcinoma, Adenocarcinoma of the colon, Medulloblastoma, Neurobl... OMIM:276300
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive
Failure to thrive, Decreased response to growth hormone stimuation test OMIM:245590
Joubert Syndrome 26
Panhypopituitarism, Central hypothyroidism, Decreased response to growth hormone stimuation test OMIM:616784
Non-Acquired Isolated Growth Hormone Deficiency
Anterior hypopituitarism ORPHA:631
Amed Syndrome, Digenic
Myelodysplasia, Thrombocytopenia, Acute myeloid leukemia, Leukopenia, Anemia, Failure to thrive OMIM:619151
Leptin Receptor Deficiency
Abnormal hypothalamus morphology, Hypergonadotropic hypogonadism, Pituitary hypothyroidism, Decre... OMIM:614963
Dohle Bodies And Leukemia
Acute myeloid leukemia, Leukocyte inclusion bodies, Anemia OMIM:223350
Non-Acquired Panhypopituitarism
Decreased circulating ACTH level, Ectopic anterior pituitary gland, Absence of secondary sex char... ORPHA:90695
Premature Ovarian Failure 17
Elevated circulating luteinizing hormone level, Decreased antimullerian hormone level, Decreased ... OMIM:619146
Sim1-Related Prader-Willi-Like Syndrome
Cryptorchidism, Hypogonadotropic hypogonadism, Premature pubarche, Premature adrenarche, Central ... ORPHA:398079
Prader-Willi Syndrome
Cryptorchidism, Perisylvian polymicrogyria, Premature pubarche, Premature adrenarche, Abnormal ce... ORPHA:739
Panhypopituitarism, X-Linked
Panhypopituitarism OMIM:312000
Systemic Mastocytosis With Associated Hematologic Neoplasm
Myeloid leukemia, Myelodysplasia, Multiple myeloma, Leukocytosis, Chronic lymphatic leukemia, Wei... ORPHA:98849
Autosomal Recessive Spastic Paraplegia Type 44
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Abnormal motor evoked pote... ORPHA:320401
Wt Limb-Blood Syndrome
Thrombocytopenia, Hypoplastic anemia, Pancytopenia, Leukemia OMIM:194350
Ravine Syndrome
Abnormal auditory evoked potentials ORPHA:99852
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Decreased circulating ACTH level, Adrenocorticotropin deficient adrenal insufficiency, Decreased ... ORPHA:293978
Meningioma
Decreased circulating ACTH level, Decreased circulating follicle stimulating hormone concentratio... ORPHA:2495
Ataxia-Pancytopenia Syndrome
Abnormality of neutrophils, Abnormal macrophage morphology, Acute myelomonocytic leukemia, Hypopl... ORPHA:2585
Female Restricted Epilepsy With Intellectual Disability
Generalized clonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Genera... ORPHA:101039
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Cryptorchidism, Decreased circulating T4 level, Central hypothyroidism, Decreased circulating gon... ORPHA:98754
Pituitary Deficiency Due To Rathke Cleft Cysts
Panhypopituitarism, Adrenocorticotropin deficient adrenal insufficiency, Enlarged pituitary gland... ORPHA:91350
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Cryptorchidism, Decreased circulating T4 level, Central hypothyroidism, Decreased circulating gon... ORPHA:98793
Autosomal Dominant Severe Congenital Neutropenia
Hemangioma, Myelodysplasia, Monocytosis, Lymphopenia, Leukemia, Neutropenia, Acute myeloid leukem... ORPHA:486
Intellectual Developmental Disorder And Hypogonadotropic Hypogonadism
Cryptorchidism, Decreased circulating follicle stimulating hormone concentration, Hyperinsulinemi... OMIM:619326
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Cryptorchidism, Decreased circulating T4 level, Central hypothyroidism, Decreased circulating gon... ORPHA:177904
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Cryptorchidism, Decreased circulating T4 level, Central hypothyroidism, Decreased circulating gon... ORPHA:177901
Deafness-Lymphedema-Leukemia Syndrome
Leukocytosis, Weight loss, Thrombocytopenia, Abnormal neutrophil count, Splenomegaly, Myeloprolif... ORPHA:3226
Ataxia-Pancytopenia Syndrome
Acute myelomonocytic leukemia, Neutropenia, Pancytopenia, Thrombocytopenia, Hypoplastic anemia, A... OMIM:159550
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Cryptorchidism, Increased circulating gonadotropin level, Aplasia of the ovary, Breast hypoplasia... ORPHA:2232
Encephalopathy With Intracranial Calcification, Growth Hormone Deficiency, Microcephaly, And Retinal Degeneration
Cerebral calcification, Decreased response to growth hormone stimuation test OMIM:225755
Mehmo Syndrome
Male hypogonadism, Hypoplasia of the corpus callosum, Obesity, Delayed puberty, Small for gestati... OMIM:300148
Magel2-Related Prader-Willi-Like Syndrome
Abdominal obesity, Cryptorchidism, Premature pubarche, Central hypothyroidism, Hypothalamic lutei... ORPHA:398069
Combined Pituitary Hormone Deficiencies, Genetic Forms
Decreased circulating ACTH level, Ectopic anterior pituitary gland, Absent septum pellucidum, Abs... ORPHA:95494
Hypothyroidism, Congenital, Nongoitrous, 8
Central hypothyroidism, Inappropriately normal thyroid-stimulating hormone level, Decreased circu... OMIM:301033
Pituitary Dermoid And Epidermoid Cysts
Panhypopituitarism, Enlarged pituitary gland, Neoplasm of the anterior pituitary, Hyperpituitaris... ORPHA:91351
Pituitary Deficiency Due To Empty Sella Turcica Syndrome
Pituitary hypothyroidism, Hypopituitarism, Adrenocorticotropic hormone deficiency, Increased circ... ORPHA:91354
Prader-Willi-Like Syndrome
Cryptorchidism, Decreased circulating T4 level, Central hypothyroidism, Decreased circulating gon... ORPHA:398073
Craniopharyngioma
Abnormal hypothalamus morphology, Enlarged pituitary gland, Pituitary hypothyroidism, Central adr... ORPHA:54595
Kallmann Syndrome With Spastic Paraplegia
Cryptorchidism, Decreased circulating follicle stimulating hormone concentration, Decreased circu... OMIM:308750
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Leukemia, Nephroblastoma, Meningioma OMIM:602501
Pituitary Adenoma 1, Multiple Types
Pituitary growth hormone cell adenoma, Increased serum insulin-like growth factor 1, Prolactinoma... OMIM:102200
Aggressive Systemic Mastocytosis
Increased proportion of CD25+ mast cells, Leukocytosis, Neutropenia, Weight loss, Pancytopenia, T... ORPHA:98850
Hypergonadotropic Hypogonadism-Cataract Syndrome
Increased circulating gonadotropin level, Hypergonadotropic hypogonadism, Absence of secondary se... ORPHA:2410
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Absent brainstem auditory responses, Sensorineural hearing impairment, EEG abnormality, Facial palsy OMIM:617519
Carney Complex
Pituitary growth hormone cell adenoma, Increased urinary cortisol level, Ovarian cyst, Elevated c... ORPHA:1359
Charcot-Marie-Tooth Disease, Type 4D
Hearing impairment, Abnormal auditory evoked potentials, Decreased nerve conduction velocity OMIM:601455
Pseudohypoparathyroidism Type 1C
Enamel hypoplasia, Pseudohypoparathyroidism, Hypergonadotropic hypogonadism, Decreased response t... ORPHA:79444
Myelofibrosis
Myeloproliferative disorder, Splenomegaly OMIM:254450
Septo-Optic Dysplasia Spectrum
Cryptorchidism, Hypohidrosis, Maternal diabetes, Agenesis of corpus callosum, Absent septum pellu... ORPHA:3157
Combined Oxidative Phosphorylation Deficiency 25
Cerebral atrophy, Decreased response to growth hormone stimuation test OMIM:616430
Tsh-Secreting Pituitary Adenoma
Euthyroid hyperthyroxinemia, Male hypogonadism, Elevated circulating growth hormone concentration... ORPHA:91347
Fg Syndrome Type 1
Slender build, Cryptorchidism, Progressive flexion contractures, Aplasia/Hypoplasia of the corpus... ORPHA:93932
Neurodevelopmental Disorder With Brain Abnormalities, Poor Growth, And Dysmorphic Facies
Microcephaly, Agenesis of corpus callosum, Failure to thrive, Decreased response to growth hormon... OMIM:615286
Culler-Jones Syndrome
Cryptorchidism, Hypopituitarism, Ectopic posterior pituitary, Anterior pituitary hypoplasia, Diab... OMIM:615849
Acute Monoblastic/Monocytic Leukemia
Lymphocytosis, Hypochromic anemia, Acute monocytic leukemia, Leukocytosis, Weight loss, Anemia ORPHA:514
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Progressive sensorineural hearing impairment, Abnormal auditory evoked potentials, Optic atrophy OMIM:125250
Immunodeficiency 36
Lymphopenia, Splenomegaly, Chronic lymphatic leukemia, B-cell lymphoma OMIM:616005
Galloway-Mowat Syndrome 6
Hypothyroidism, Microcephaly, Decreased body weight, Decreased response to growth hormone stimuat... OMIM:618347
Temple Syndrome
Cryptorchidism, Obesity, Small for gestational age, Type II diabetes mellitus, Precocious puberty... ORPHA:254516
Diffuse Cutaneous Mastocytosis
Leukemia, Cutaneous mastocytosis ORPHA:79456
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 1
Myeloid leukemia, Myelodysplasia, Pancytopenia, Aplastic anemia, Anemia OMIM:614742
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Cryptorchidism, Decreased circulating follicle stimulating hormone concentration, Decreased circu... OMIM:308700
Leydig Cell Hypoplasia, Type I
Hypergonadotropic hypogonadism, Increased circulating gonadotropin level OMIM:238320
Premature Ovarian Failure 16
Decreased serum estradiol, Elevated circulating follicle stimulating hormone level, Premature ova... OMIM:618723
X-Linked Intellectual Disability, Van Esch Type
Cryptorchidism, Male hypogonadism, Increased circulating gonadotropin level, Retractile testis, H... ORPHA:163976
Pseudohypoparathyroidism Type 1A
Enamel hypoplasia, Pseudohypoparathyroidism, Hypergonadotropic hypogonadism, Decreased response t... ORPHA:79443
Dopa-Responsive Dystonia
Inability to walk, Dystonia, Lethargy, Generalized tonic seizure, Tremor, Difficulty walking, Abn... ORPHA:255
Chromosome Xq27.3-Q28 Duplication Syndrome
Cryptorchidism, Increased circulating gonadotropin level, Decreased serum testosterone concentrat... OMIM:300869
Charcot-Marie-Tooth Disease, Type 4C
Decreased motor nerve conduction velocity, Abnormal cranial nerve morphology, Prolonged brainstem... OMIM:601596
Adrenocortical Carcinoma
Abnormal circulating dehydroepiandrosterone concentration, Paradoxical increased cortisol secreti... ORPHA:1501
Myasthenic Syndrome, Congenital, 22
Decreased response to growth hormone stimuation test OMIM:616224
Acute Panmyelosis With Myelofibrosis
Lymphocytosis, Acute myelomonocytic leukemia, Pancytopenia, Acute myeloid leukemia, Splenomegaly ORPHA:86843
Hyperthyroidism, Familial Gestational
Increased circulating T4 level, Decreased thyroid-stimulating hormone level, Hyperthyroidism OMIM:603373
Obesity Due To Congenital Leptin Deficiency
Decreased serum leptin, Hyperinsulinemia, Hypergonadotropic hypogonadism, Decreased testicular si... ORPHA:66628
Essential Thrombocythemia
Myelodysplasia, Abnormal platelet morphology, Acute leukemia, Splenomegaly ORPHA:3318
Chilblain Lupus
Chronic myelomonocytic leukemia ORPHA:90280
Retinoblastoma
Retinoblastoma, Lymphoma, Osteosarcoma, Pinealoma, Leukemia, Ewing sarcoma OMIM:180200
Familial Thrombocytosis
Myelodysplasia, Thrombocytosis, Chronic myelogenous leukemia, Weight loss, Acute myeloid leukemia... ORPHA:71493
Septopreoptic Holoprosencephaly
Abnormality of the septum pellucidum, Perisylvian polymicrogyria, Anterior hypopituitarism, Megal... ORPHA:280195
Premature Ovarian Failure 1
Increased circulating gonadotropin level, Premature ovarian insufficiency OMIM:311360
Obesity Due To Leptin Receptor Gene Deficiency
Decreased serum leptin, Hyperinsulinemia, Hypergonadotropic hypogonadism, Decreased testicular si... ORPHA:179494
Turcot Syndrome With Polyposis
Adenomatous colonic polyposis, Neoplasm of the central nervous system, Pilomatrixoma, Cerebellar ... ORPHA:99818
Acromelic Frontonasal Dysplasia
Cryptorchidism, Midline central nervous system lipomas, Hypopituitarism, Anterior pituitary hypop... ORPHA:1827
Endocardial Fibroelastosis
Cryptorchidism, Anterior hypopituitarism ORPHA:2022
Syndromic Recessive X-Linked Ichthyosis
Testicular seminoma, Acute leukemia ORPHA:281090
Gm2 Gangliosidosis, Ab Variant
Dystonia, Seizure, Exaggerated startle response, Anxiety, Abnormal fear/anxiety-related behavior,... ORPHA:309246
Midline Malformations, Multiple, With Limb Abnormalities And Hypopituitarism
Dysplastic corpus callosum, Camptodactyly, Anterior hypopituitarism, Joint contracture of the hand OMIM:601016
Hypothyroidism, Congenital, Nongoitrous, 9
Central hypothyroidism, Inappropriately normal thyroid-stimulating hormone level, Decreased circu... OMIM:301035
Premature Ovarian Failure 9
Increased circulating gonadotropin level, Premature ovarian insufficiency OMIM:615724
Ovarian Dysgenesis 8
Elevated circulating follicle stimulating hormone level, Elevated circulating luteinizing hormone... OMIM:618187
Refractory Anemia With Excess Blasts
Single lineage myelodysplasia, Leukocytosis, Thrombocytopenia, Acute myeloid leukemia, Anemia of ... ORPHA:86839
Hyperekplexia-Epilepsy Syndrome
EEG with temporal focal spikes, Generalized tonic seizure, Focal impaired awareness seizure, Exag... ORPHA:163985
Boomerang Dysplasia
Cryptorchidism, Omphalocele, Decreased response to growth hormone stimuation test ORPHA:1263
Precocious Puberty, Central, 1
Hypothyroidism, Elevated circulating follicle stimulating hormone level, Elevated circulating lut... OMIM:176400
Deeah Syndrome
Panhypopituitarism, Cryptorchidism, Hypohidrosis, Exocrine pancreatic insufficiency, Decreased ci... OMIM:619004
Chromosome Xq26.3 Duplication Syndrome
Increased serum insulin-like growth factor 1, Elevated circulating growth hormone concentration, ... OMIM:300942
Neurodevelopmental Disorder With Seizures, Hypotonia, And Brain Imaging Abnormalities
Panhypopituitarism, Hypothyroidism, Hypoplasia of the corpus callosum, Cerebral atrophy, Lipodyst... OMIM:618922
Isolated Follicle Stimulating Hormone Deficiency
Gonadotropin deficiency, Male hypogonadism, Hyperplasia of the Leydig cells, Bilateral breast hyp... ORPHA:52901
4H Leukodystrophy
Hypoplasia of the corpus callosum, Delayed puberty, Hyperintensity of cerebral white matter on MR... ORPHA:289494
Spermatogenic Failure 28
Decreased testicular size, Elevated circulating follicle stimulating hormone level, Elevated circ... OMIM:618086
Autoimmune Hemolytic Anemia, Warm Type
Autoimmune hemolytic anemia, Lymphoproliferative disorder, Chronic lymphatic leukemia, Splenomegaly ORPHA:90033
46,Xy Sex Reversal 11
Elevated circulating luteinizing hormone level, Vanishing testis, Decreased antimullerian hormone... OMIM:273250
Hydranencephaly
Dysgenesis of the thalamus, Abnormal corpus striatum morphology, Hypoplastic hippocampus, Cerebra... ORPHA:2177
Juberg-Hayward Syndrome
Microcephaly, Decreased response to growth hormone stimuation test OMIM:216100
Pituitary Adenoma 2, Growth Hormone-Secreting
Elevated circulating growth hormone concentration, Pituitary adenoma OMIM:300943
Acth Deficiency, Isolated
Decreased circulating cortisol level, Adrenal hypoplasia, Adrenocorticotropic hormone deficiency OMIM:201400
Bloom Syndrome
Leukemia, Small for gestational age, Squamous cell carcinoma, Lymphoma OMIM:210900
Nasu-Hakola Disease
Acute leukemia ORPHA:2770
Microphthalmia, Syndromic 3
Cryptorchidism, Hypothalamic hamartoma, Hypoplasia of the corpus callosum, Anterior pituitary hyp... OMIM:206900
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Cryptorchidism, Adrenal hypoplasia, Decreased response to growth hormone stimuation test OMIM:614732
Hypogonadotropic Hypogonadism 23 Without Anosmia
Androgen insufficiency, Ovarian cyst, Abnormality of the Leydig cells, Decreased circulating lute... OMIM:228300
Shwachman-Diamond Syndrome 1
Myelodysplasia, Persistence of hemoglobin F, Neutropenia, Pancytopenia, Thrombocytopenia, Acute m... OMIM:260400
Pyoderma Gangrenosum
Myeloid leukemia, Myelodysplasia ORPHA:48104
Tay-Sachs Disease
Dementia, Apathy, Psychomotor deterioration, Seizure, Exaggerated startle response OMIM:272800
Isolated Exencephaly
Maternal diabetes, Agenesis of corpus callosum, Posterior pituitary agenesis, Anterior pituitary ... ORPHA:563612
Hypotonia-Cystinuria Syndrome
Hypergonadotropic hypogonadism, Failure to thrive, Decreased response to growth hormone stimuatio... OMIM:606407
Premature Ovarian Failure 14
Elevated circulating follicle stimulating hormone level, Elevated circulating luteinizing hormone... OMIM:618014
Fanconi Anemia, Complementation Group E
Neutropenia, Reticulocytopenia, Pancytopenia, Thrombocytopenia, Small for gestational age, Anemia... OMIM:600901
Rhyns Syndrome
Anterior hypopituitarism, Pituitary hypothyroidism, Decreased response to growth hormone stimuati... OMIM:602152
Fanconi Anemia, Complementation Group A
Neutropenia, Reticulocytopenia, Pancytopenia, Thrombocytopenia, Small for gestational age, Anemia... OMIM:227650
Pallister-Hall Syndrome
Cryptorchidism, Pituitary hypothyroidism, Decreased testicular size, Precocious puberty, Abnormal... ORPHA:672
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Decreased testicular size, Microcephaly, Overweight, Decreased response to growth hormone stimuat... ORPHA:457240
X-Linked Hypohidrotic Ectodermal Dysplasia
Hypohidrosis, Type I diabetes mellitus, Anterior hypopituitarism ORPHA:181
Autosomal Dominant Optic Atrophy Plus Syndrome
Absent brainstem auditory responses, Sensorineural hearing impairment, Optic atrophy, Temporal op... ORPHA:1215
Premature Ovarian Failure 18
Elevated circulating luteinizing hormone level, Decreased antimullerian hormone level, Hypoplasia... OMIM:619203
Zollinger-Ellison Syndrome
Parathyroid hyperplasia, Pituitary growth hormone cell adenoma, Increased urinary cortisol level,... ORPHA:913
Hypertriglyceridemia 1
Hypopituitarism OMIM:145750
Hyperlipoproteinemia, Type Iv
Hypopituitarism OMIM:144600
Lig4 Syndrome
Pancytopenia, Lymphoma, Acute leukemia, Leukocytosis ORPHA:99812
Shwachman-Diamond Syndrome
Myelodysplasia, Chronic neutropenia, Neutropenia, Impaired neutrophil chemotaxis, Normocytic anem... ORPHA:811
Mastocytosis
Chronic leukemia, Sarcoma, Splenomegaly, Mastocytosis, Acute leukemia ORPHA:98292
Ataxia-Telangiectasia
Non-Hodgkin lymphoma, T lymphocytopenia, Decreased proportion of CD4-positive helper T cells, Lym... OMIM:208900
Multiple Endocrine Neoplasia Type 4
Hyperinsulinemic hypoglycemia, Elevated circulating growth hormone concentration, Increased circu... ORPHA:276152
Polycythemia Vera
Myelodysplasia, Acute leukemia, Weight loss, Splenomegaly ORPHA:729
Childhood Absence Epilepsy
Febrile seizure (within the age range of 3 months to 6 years), Abnormal social behavior, Myocloni... ORPHA:64280
Premature Ovarian Failure 8
Premature ovarian insufficiency, Increased circulating gonadotropin level, Ovarian neoplasm OMIM:615723
Kearns-Sayre Syndrome
Anterior hypopituitarism ORPHA:480
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Abnormal response to ACTH stimulation test, Abnormal circulating dehydroepiandrosterone concentra... ORPHA:90793
Multiple Endocrine Neoplasia, Type I
Prolactinoma, Elevated circulating growth hormone concentration, Increased circulating cortisol l... OMIM:131100
Asparagine Synthetase Deficiency
Hypsarrhythmia, Seizure, Exaggerated startle response, Failure to thrive, Simplified gyral pattern OMIM:615574
Holoprosencephaly 9
Panhypopituitarism, Cryptorchidism, Partial agenesis of the corpus callosum, Anterior pituitary a... OMIM:610829
Prader-Willi Syndrome Due To Translocation
Anterior pituitary hypoplasia, Obesity, Cerebral cortical atrophy, Hypogonadotropic hypogonadism,... ORPHA:177907
Noonan Syndrome 12
Decreased response to growth hormone stimuation test OMIM:618624
Early-Onset Autosomal Dominant Alzheimer Disease
Dementia, Abnormal social behavior, Ataxia, Seizure, Semantic dementia, Myoclonus, Memory impairment ORPHA:1020
15Q24 Microdeletion Syndrome
Cryptorchidism, Obesity, Small for gestational age, Hernia, Failure to thrive, Congenital diaphra... ORPHA:94065
Metachromatic Leukodystrophy, Juvenile Form
Dystonia, Progressive gait ataxia, Abnormal social behavior, Intention tremor, Emotional lability... ORPHA:309263
Prolactinoma
Abnormality of the pituitary gland, Male hypogonadism, Elevated circulating growth hormone concen... ORPHA:2965
Mohr-Tranebjaerg Syndrome
Absent brainstem auditory responses, Sensorineural hearing impairment, Abnormal cochlea morpholog... ORPHA:52368
Gm2-Gangliosidosis, Ab Variant
Dystonia, Dementia, Apathy, Seizure, Exaggerated startle response OMIM:272750
Acrocraniofacial Dysostosis
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Conductive hearing impairment OMIM:201050
Dyrk1A-Related Intellectual Disability Syndrome
Cryptorchidism, Breast hypoplasia, Hypoplasia of the corpus callosum, Anterior pituitary hypoplas... ORPHA:464306
Bloom Syndrome
Myelodysplasia, Abnormal proportion of CD8-positive T cells, Esophageal neoplasm, Neoplasm of the... ORPHA:125
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome
Hypergonadotropic hypogonadism, Decreased testicular size, Delayed puberty, Decreased response to... ORPHA:280679
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, Genital Anomalies, And Immunodeficiency
Bilateral cryptorchidism, Decreased body weight, Congenital adrenal hypoplasia, Microcephaly, Dec... OMIM:618336
Early-Onset Schizophrenia
Shyness, Abnormal emotion/affect behavior, Diminished motivation, Anhedonia, Emotional lability, ... ORPHA:96369
Sweet Syndrome
Leukocytosis, Chronic lymphatic leukemia, Neoplasm, Hematological neoplasm, Acute myeloid leukemi... ORPHA:3243
Cohen Syndrome
Delayed puberty, Small for gestational age, Thick corpus callosum, Childhood-onset truncal obesit... OMIM:216550
Fanconi Anemia, Complementation Group C
Neutropenia, Reticulocytopenia, Pancytopenia, Thrombocytopenia, Small for gestational age, Anemia... OMIM:227645
Retinoblastoma
Retinoblastoma, Glioma, Lymphoma, Leiomyosarcoma, Osteosarcoma, Rhabdomyosarcoma, Leukemia, Pineo... ORPHA:790
Porphyria Due To Ala Dehydratase Deficiency
Abnormal erythrocyte enzyme level, Myeloproliferative disorder ORPHA:100924
Short Stature-Wormian Bones-Dextrocardia Syndrome
Cryptorchidism, Camptodactyly of finger, Anterior hypopituitarism ORPHA:2863
Rothmund-Thomson Syndrome Type 1
Basal cell carcinoma, Myelodysplasia, Neutropenia, Squamous cell carcinoma, Small for gestational... ORPHA:221008
Fanconi Anemia, Complementation Group I
Agenesis of corpus callosum, Absent septum pellucidum, Hypothyroidism, Decreased body weight, Mic... OMIM:609053
Premature Ovarian Failure 10
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Hypothyroidism, ... OMIM:612885
Rothmund-Thomson Syndrome Type 2
Basal cell carcinoma, Myelodysplasia, Neutropenia, Squamous cell carcinoma, Lymphoma, Small for g... ORPHA:221016
Rothmund-Thomson Syndrome
Basal cell carcinoma, Myelodysplasia, Neutropenia, Squamous cell carcinoma, Small for gestational... ORPHA:2909
Down Syndrome
Acute megakaryocytic leukemia, Myeloproliferative disorder OMIM:190685
Webb-Dattani Syndrome
Cryptorchidism, Hypoplasia of the corpus callosum, Secondary microcephaly, Pituitary hypothyroidi... OMIM:615926
Pseudohypoparathyroidism Type 1B
Enamel hypoplasia, Pseudohypoparathyroidism, Pituitary resistance to thyroid hormone, Elevated ci... ORPHA:94089
Silver-Russell Syndrome 1
Testicular seminoma, Small for gestational age, Decreased response to growth hormone stimuation test OMIM:180860
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Abnormal auditory evoked potentials, Sensorineural hearing impairment OMIM:109120
Nijmegen Breakage Syndrome
Hemolytic anemia, Autoimmune hemolytic anemia, Glioma, B-cell lymphoma, Neoplasm, Thrombocytopeni... ORPHA:647
Tatton-Brown-Rahman Syndrome
Myeloid leukemia, Neuroendocrine neoplasm, Obesity ORPHA:404443
Anterior Chamber Cleavage Disorder, Cerebellar Hypoplasia, Hypothyroidism, And Tracheal Stenosis
Congenital hypothyroidism, Decreased response to growth hormone stimuation test OMIM:601427
Metachromatic Leukodystrophy, Adult Form
Dystonia, Dementia, Progressive gait ataxia, Difficulty walking, Abnormal social behavior, Intent... ORPHA:309271
Noonan Syndrome 6
Juvenile myelomonocytic leukemia OMIM:613224
Rhyns Syndrome
Hypopituitarism ORPHA:140976
Paroxysmal Nocturnal Hemoglobinuria
Myelodysplasia, Hemolytic anemia, Pancytopenia, Hypoplastic anemia, Acute myeloid leukemia, Aplas... ORPHA:447
Mccune-Albright Syndrome
Hyperparathyroidism, Elevated circulating growth hormone concentration, Increased circulating cor... OMIM:174800
Nelson Syndrome
Increased urinary cortisol level, Secondary hypercortisolism, Increased circulating cortisol leve... ORPHA:199244
African Trypanosomiasis
Abnormality of renin-angiotensin system, Abnormal growth hormone level, Abnormal cerebral white m... ORPHA:3385
Intellectual Disability-Strabismus Syndrome
Cryptorchidism, Hypohidrosis, Congenital finger flexion contractures, Decreased serum insulin-lik... ORPHA:363528
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Hypergonadotropic hypogonadism, Decreased testicular size, Decreased response to growth hormone s... OMIM:300845
Waldenström Macroglobulinemia
Abnormality of neutrophils, Normocytic anemia, Lymphoma, Splenomegaly, Leukemia, Monoclonal immun... ORPHA:33226
Cataract-Growth Hormone Deficiency-Sensory Neuropathy-Sensorineural Hearing Loss-Skeletal Dysplasia Syndrome
Decreased response to growth hormone stimuation test ORPHA:436174
Late-Onset Isolated Acth Deficiency
Decreased circulating ACTH level, Adrenocorticotropin deficient adrenal insufficiency, Graves dis... ORPHA:199299
Pseudopapilledema, Ocular Hypotelorism, Blepharophimosis, And Hand Anomalies
Failure to thrive, Decreased response to growth hormone stimuation test OMIM:264475
Multiple Endocrine Neoplasia, Type Iv
Pancreatic endocrine tumor, Elevated circulating growth hormone concentration, Hypothyroidism, Ca... OMIM:610755
Stiff Person Spectrum Disorder
Difficulty walking, Agoraphobia, Emotional lability, Exaggerated startle response, Falls, Anxiety ORPHA:3198
Isolated Thyroid-Stimulating Hormone Deficiency
Goiter, Increased pituitary glycoprotein hormone alpha subunit level, Decreased circulating T4 le... ORPHA:90674
Thyroid Hormone Resistance, Selective Pituitary
Impaired sensitivity to thyroid hormone, Elevated circulating thyroid-stimulating hormone concent... OMIM:145650
Fanconi Anemia, Complementation Group W
Microcephaly, Abnormal periventricular white matter morphology, Decreased response to growth horm... OMIM:617784
Developmental And Epileptic Encephalopathy 68
Status epilepticus, Exaggerated startle response, Myoclonus, Failure to thrive OMIM:618201
Srd5A3-Cdg
Hypothyroidism, Decreased response to growth hormone stimuation test ORPHA:324737
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Decreased testicular size, Gonadotropin deficiency OMIM:614837
Acrootoocular Syndrome
Grayish enamel, Small for gestational age, Failure to thrive, Microcephaly, Decreased response to... ORPHA:2980
Pallister-Hall-Like Syndrome
Hypothalamic hamartoma, Anterior hypopituitarism OMIM:241800
14Q22Q23 Microdeletion Syndrome
Cryptorchidism, Adrenal hypoplasia, Agenesis of corpus callosum, Anterior pituitary hypoplasia, D... ORPHA:264200
Blackfan-Diamond Anemia
Elevated red cell adenosine deaminase level, Erythroid hypoplasia, Myelodysplasia, Pure red cell ... ORPHA:124
Ulnar-Mammary Syndrome
Breast hypoplasia, Axillary apocrine gland hypoplasia, Ectopic posterior pituitary, Anterior pitu... OMIM:181450
Bone Marrow Failure Syndrome 3
Pancytopenia, Acute myeloid leukemia, Aplastic anemia, Failure to thrive OMIM:617052
Fanconi Anemia, Complementation Group D2
Neutropenia, Reticulocytopenia, Pancytopenia, Thrombocytopenia, Small for gestational age, Anemia... OMIM:227646
Alstrom Syndrome
Hyperinsulinemia, Multinodular goiter, Hypergonadotropic hypogonadism, Hypothyroidism, Insulin-re... OMIM:203800
Solitary Median Maxillary Central Incisor
Microcephaly, Anterior hypopituitarism, Decreased response to growth hormone stimuation test OMIM:147250
Neurofibromatosis Type 1
Lisch nodules, Neoplasm of the gastrointestinal tract, Urinary tract neoplasm, Plexiform neurofib... ORPHA:636
Triple A Syndrome
Adrenal insufficiency, Microcephaly, Anterior hypopituitarism ORPHA:869
Myelodysplasia, Immunodeficiency, Facial Dysmorphism, Short Stature, And Psychomotor Delay
Myelodysplasia, Neutropenia, Decreased body weight, Acute myeloid leukemia, Anemia OMIM:601347
Acromelic Frontonasal Dysostosis
Cryptorchidism, Hypoplasia of the corpus callosum, Hypopituitarism, Lipoma, Agenesis of corpus ca... OMIM:603671
Mosaic Variegated Aneuploidy Syndrome 1
Nephroblastoma, Small for gestational age, Rhabdomyosarcoma, Leukemia OMIM:257300
Ritscher-Schinzel Syndrome 1
Adrenal hypoplasia, Decreased response to growth hormone stimuation test OMIM:220210
Aromatic L-Amino Acid Decarboxylase Deficiency
Lethargy, Blepharospasm, Emotional lability, Limb tremor, Torticollis, Oculogyric crisis, Irritab... OMIM:608643
Short Stature, Oligodontia, Dysmorphic Facies, And Motor Delay
Hypothyroidism, Hypoplasia of the corpus callosum, Umbilical hernia, Bilateral camptodactyly, Del... OMIM:619234
Helsmoortel-Van Der Aa Syndrome
Decreased response to growth hormone stimuation test, Obesity OMIM:615873
Acrodysostosis 1 With Or Without Hormone Resistance
Decreased growth hormone responses to growth hormone-releasing hormone challenge, Cryptorchidism,... OMIM:101800
Immunodeficiency, Common Variable, 10
Abnormal response to ACTH stimulation test, Central adrenal insufficiency, Decreased response to ... OMIM:615577
Ataxia-Telangiectasia With Generalized Skin Pigmentation And Early Death
Leukemia OMIM:208910
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Cryptorchidism, Hypoplasia of the corpus callosum, Congenital hypoparathyroidism, Microcephaly, D... OMIM:241410
Down Syndrome
Acute megakaryocytic leukemia, Obesity ORPHA:870
Late-Infantile/Juvenile Krabbe Disease
Prolonged brainstem auditory evoked potentials, EEG with persistent abnormal rhythmic activity, D... ORPHA:206443
Ppoma
Intestinal carcinoid, Increased circulating gonadotropin level, Elevated circulating growth hormo... ORPHA:97278
Tay-Sachs Disease
Inability to walk, Dystonia, Tremor, Gait disturbance, Seizure, Laryngeal dystonia, Exaggerated s... ORPHA:845
Congenital Factor Xiii Deficiency
Myeloid leukemia ORPHA:331
Hypothyroidism, Congenital, Nongoitrous, 1
Hypothyroidism, Congenital hypothyroidism, Elevated circulating thyroid-stimulating hormone conce... OMIM:275200
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Compensated hypothyroidism, Gonadotropin deficiency, Elevated circulating thyroid-stimulating hor... OMIM:610978
Juvenile Xanthogranuloma
Myeloproliferative disorder ORPHA:158000
Williams-Beuren Region Duplication Syndrome
Cryptorchidism, Hypoplasia of the corpus callosum, Decreased response to growth hormone stimuatio... OMIM:609757
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Optic disc pallor OMIM:619260
Genetic Transient Congenital Hypothyroidism
Goiter, Decreased circulating T4 level, Abnormal radioactive iodine uptake test result, Elevated ... ORPHA:226316
16P12.1P12.3 Triplication Syndrome
Bilateral cryptorchidism, Failure to thrive, Decreased response to growth hormone stimuation test ORPHA:485405
Meier-Gorlin Syndrome 6
Cryptorchidism, Umbilical hernia, Delayed puberty, Small for gestational age, Failure to thrive, ... OMIM:616835
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hypothyroidism, Microcephaly, Periventricular cysts, Hypopituitarism OMIM:619013
Kallmann Syndrome
Cryptorchidism, Breast hypoplasia, Hypothalamic gonadotropin-releasing hormone deficiency, Delaye... ORPHA:478
Wiskott-Aldrich Syndrome
Hemolytic anemia, Chronic leukemia, Microcytic anemia, Lymphopenia, Neutropenia, Lymphoma, Neopla... ORPHA:906
Gomez-Lopez-Hernandez Syndrome
Decreased response to growth hormone stimuation test OMIM:601853
Idiopathic Hypereosinophilic Syndrome
Myelodysplasia, Thrombocytosis, Leukocytosis, Thrombocytopenia, Splenomegaly, Anemia, Failure to ... ORPHA:3260
Hypothyroidism Due To Tsh Receptor Mutations
Compensated hypothyroidism, Increased radioactive iodine uptake, Decreased circulating T4 level, ... ORPHA:90673
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia
Cerebral cortical atrophy, Flexion contracture, Central adrenal insufficiency, Decreased response... OMIM:616007
Arthrogryposis, Distal, Type 2A
Hearing impairment, Abnormal auditory evoked potentials OMIM:193700
Adult Krabbe Disease
Prolonged brainstem auditory evoked potentials, EEG abnormality ORPHA:206448
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Vestibular areflexia, Absent brainstem auditory responses ORPHA:3240
Developmental And Epileptic Encephalopathy 8
Seizure, Exaggerated startle response OMIM:300607
Prader-Willi Syndrome
Cryptorchidism, Hyperinsulinemia, Decreased response to growth hormone stimuation test, Failure t... OMIM:176270
Chronic Bilirubin Encephalopathy
Abnormal auditory evoked potentials, Sensorineural hearing impairment ORPHA:529808
Acute Bilirubin Encephalopathy
Abnormal auditory evoked potentials, Sensorineural hearing impairment ORPHA:529799
Sandhoff Disease
Bilateral tonic-clonic seizure, Ataxia, Progressive psychomotor deterioration, Myoclonic seizure,... OMIM:268800
Chromosome 18Q Deletion Syndrome
Cryptorchidism, Abnormal cerebral white matter morphology, Failure to thrive in infancy, Umbilica... OMIM:601808
Mosaic Variegated Aneuploidy Syndrome
Myelodysplasia, Neoplasm, Nephroblastoma, Stomach cancer, Rhabdomyosarcoma, Vaginal neoplasm, Int... ORPHA:1052
Non-Progressive Cerebellar Ataxia With Intellectual Disability
Aggressive behavior, Abnormal social behavior, Ataxia, Focal myoclonic seizure, Abnormal cortical... ORPHA:314647
Plaa-Associated Neurodevelopmental Disorder
Dystonia, Hypsarrhythmia, Seizure, Abnormal cortical gyration, Exaggerated startle response, Fail... ORPHA:521426
17Q11 Microdeletion Syndrome
Myelodysplasia, Lisch nodules, Atypical neurofibromatosis, Gastrointestinal stroma tumor, Optic n... ORPHA:97685
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Seizure, Abnormal cortical gyration, Exaggerated startle response, Failure to thrive, Cognitive i... OMIM:617527
Maternal Uniparental Disomy Of Chromosome 2
Hypothyroidism, Bilateral cryptorchidism, Contractures of the large joints, Premature ovarian ins... ORPHA:96179
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome
Slender build, Cryptorchidism, Hypoplasia of the corpus callosum, Bilateral cryptorchidism, Anter... ORPHA:466791
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Hypoplasia of the semicircular canal, Abnormal autonomic nervous system physiology, Long-segment ... OMIM:609136
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Dystonia, Ataxia, Seizure, Exaggerated startle response, Anxiety, Broad-based gait ORPHA:438216
Congenital Hypothyroidism
Goiter, Hypothyroidism, Umbilical hernia, Abnormality of the thyroid gland, Hypogonadism, Thyroid... ORPHA:442
Acrodysostosis With Multiple Hormone Resistance
Cryptorchidism, Pseudohypoparathyroidism, Decreased response to growth hormone stimuation test, C... ORPHA:280651
Adult-Onset Autosomal Dominant Leukodystrophy
Autonomic bladder dysfunction, Orthostatic hypotension, Abnormal autonomic nervous system physiol... ORPHA:99027
Fanconi Anemia, Complementation Group F
Cryptorchidism, Microcephaly, Failure to thrive, Decreased response to growth hormone stimuation ... OMIM:603467
Noonan Syndrome 2
Leukemia OMIM:605275
Ellis Van Creveld Syndrome
Acute leukemia, Failure to thrive ORPHA:289
Mosaic Variegated Aneuploidy Syndrome 2
Hypothyroidism, Microcephaly, Small for gestational age, Decreased response to growth hormone sti... OMIM:614114
Dubowitz Syndrome
Acute lymphoblastic leukemia, Aplastic anemia, Neuroblastoma, Lymphoma OMIM:223370
Charcot-Marie-Tooth Disease Type 1F
Absent brainstem auditory responses, Sensorineural hearing impairment, Optic nerve hypoplasia, De... ORPHA:101085
Dubowitz Syndrome
Abnormality of neutrophils, Lymphoma, Neoplasm, Thrombocytopenia, Anemia, Acute lymphoblastic leu... ORPHA:235
Woodhouse-Sakati Syndrome
Hyperinsulinemia, Hypothyroidism, Decreased testicular size, Streak ovary, Insulin-resistant diab... ORPHA:3464
Giant Axonal Neuropathy
Abnormality of the pituitary gland ORPHA:643
Hyperekplexia 1
Seizure, Exaggerated startle response, Myoclonus, Nocturnal seizures OMIM:149400
Xq21 Microdeletion Syndrome
Anterior hypopituitarism, Decreased response to growth hormone stimuation test, Pituitary hypothy... ORPHA:1435
Stiff-Person Syndrome
Agoraphobia, Opisthotonus, Exaggerated startle response, Anxiety, Myoclonic spasms OMIM:184850
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Mental Retardation, And Ear Anomalies Syndrome
Acute lymphoblastic leukemia, Large for gestational age OMIM:280000
Dyskeratosis Congenita, X-Linked
Myelodysplasia, Carcinoma, Pancytopenia, Thrombocytopenia, Hodgkin lymphoma, Acute myeloid leukem... OMIM:305000
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7
Cryptorchidism, Premature adrenarche, Small for gestational age, Hyperhidrosis, Failure to thrive... ORPHA:96182
Infantile Krabbe Disease
Hearing impairment, Prolonged brainstem auditory evoked potentials, Optic atrophy, Decreased nerv... ORPHA:206436
Pallister-Hall Syndrome
Panhypopituitarism, Cryptorchidism, Hypothalamic hamartoma, Adrenal hypoplasia, Decreased circula... OMIM:146510
Schinzel-Giedion Syndrome
Myeloid leukemia, Facial hemangioma, Sacrococcygeal teratoma, Teratoma, Failure to thrive in infa... ORPHA:798
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies
Hypoplasia of the corpus callosum, Microcephaly, Agenesis of corpus callosum, Decreased response ... OMIM:617260
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Hypohidrosis, Premature adrenarche, Central hypothyroidism, Decreased response to growth hormone ... ORPHA:293987
Spondyloenchondrodysplasia
Abnormal periventricular white matter morphology, Hypothyroidism, Cerebral calcification, Abnorma... ORPHA:1855
Cockayne Syndrome Type 1
Macrotia, Hearing impairment, Absent brainstem auditory responses, Abnormality of peripheral nerv... ORPHA:90321
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Seizure, Exaggerated startle response OMIM:618367
Cryptococcosis
Neoplasm, Lymphoid leukemia ORPHA:1546
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Prostatitis, Delayed puberty, Decreased response to growth hormone stimuation test OMIM:307200
Isolated Biliary Atresia
Atretic gallbladder, Hypothyroidism, Hypopituitarism, Small for gestational age, Failure to thriv... ORPHA:30391
Craniofacial Dysmorphism, Skeletal Anomalies, And Mental Retardation Syndrome
Hypoplasia of the corpus callosum, Inguinal hernia, Large for gestational age, Supernumerary nipp... OMIM:213980
Tbck-Related Intellectual Disability Syndrome
Cryptorchidism, Abnormal periventricular white matter morphology, Hypothyroidism, Hypoplasia of t... ORPHA:488632
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Leukemia, Lymphoma ORPHA:2526
Trisomy 10P
Low voltage EEG, Macrotia, EEG with burst suppression, Posteriorly rotated ears, Abnormal auditor... ORPHA:171929
Monosomy 18Q
Slender build, Diffuse white matter abnormalities, Hypothyroidism, Bilateral cryptorchidism, Fail... ORPHA:1600
Chronic Thromboembolic Pulmonary Hypertension
Neoplasm, Myeloproliferative disorder, Obesity ORPHA:70591
Hyperekplexia 2
Exaggerated startle response, Myoclonus OMIM:614619
Histiocytosis-Lymphadenopathy Plus Syndrome
Camptodactyly of finger, Flexion contracture of finger, Hypergonadotropic hypogonadism, Camptodac... OMIM:602782
Dominant Beta-Thalassemia
Hypothyroidism, Failure to thrive in infancy, Hypopituitarism, Adrenal insufficiency, Delayed pub... ORPHA:231226
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Hypoparathyroidism, Hashimoto thyroiditis, Decreased response to growth hormone stimuation test OMIM:618223
Duplication Of The Pituitary Gland
Abnormality of the pituitary gland, Abnormal hypothalamus morphology, Decreased body weight, Micr... ORPHA:314621
Frontorhiny
Camptodactyly of finger, Aplasia/Hypoplasia of the corpus callosum, Lipoma of corpus callosum, Hy... ORPHA:391474
Snakebite Envenomation
Hypopituitarism ORPHA:449285
Semilobar Holoprosencephaly
Panhypopituitarism, Abnormality of the endocrine system, Central hypothyroidism, Abnormal hypotha... ORPHA:220386
Alobar Holoprosencephaly
Panhypopituitarism, Abnormality of the endocrine system, Central hypothyroidism, Abnormal hypotha... ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Panhypopituitarism, Abnormality of the endocrine system, Central hypothyroidism, Abnormal hypotha... ORPHA:93926
Lobar Holoprosencephaly
Panhypopituitarism, Abnormality of the endocrine system, Central hypothyroidism, Abnormal hypotha... ORPHA:93924
Wiedemann-Steiner Syndrome
Abnormal corpus callosum morphology, Microcephaly, Failure to thrive, Decreased response to growt... ORPHA:319182
Microform Holoprosencephaly
Panhypopituitarism, Maternal diabetes, Hypothyroidism, Microcephaly, Agenesis of corpus callosum ORPHA:280200
Cerebrotendinous Xanthomatosis
Abnormal motor evoked potentials, Abnormal auditory evoked potentials, Optic neuropathy, Decrease... ORPHA:909
Chime Syndrome
Acute leukemia ORPHA:3474
Spastic Tetraplegia And Axial Hypotonia, Progressive
Exaggerated startle response, Ataxia OMIM:618598
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Pachygyria, Type II lissencephaly, Seizure, Polymicrogyria, Exaggerated startle response, Agyria,... OMIM:253800
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia
Juvenile myelomonocytic leukemia OMIM:613563
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Cryptorchidism, Abnormality of the endocrine system, Hypothyroidism, Hypoplasia of the corpus cal... ORPHA:268261
Rubinstein-Taybi Syndrome 1
Neoplasm, Truncal obesity, Papillary cystadenoma of the epididymis, Failure to thrive, Leukemia, ... OMIM:180849
Beta-Thalassemia Major
Hypothyroidism, Failure to thrive in infancy, Hypopituitarism, Adrenal insufficiency, Delayed pub... ORPHA:231214
Somatomammotropinoma
Pituitary growth hormone cell adenoma, Elevated circulating growth hormone concentration, Pituita... ORPHA:314769
Holoprosencephaly
Panhypopituitarism, Cryptorchidism, Aplasia/Hypoplasia of the corpus callosum, Omphalocele, Failu... ORPHA:2162
Noonan Syndrome 3
Juvenile myelomonocytic leukemia OMIM:609942
Eec Syndrome
Hypohidrosis, Abnormal dental enamel morphology, Hypoplasia of the thymus, Xerostomia, Anterior h... ORPHA:1896
Cockayne Syndrome A
Abnormality of the pinna, Abnormal auditory evoked potentials, Sensorineural hearing impairment, ... OMIM:216400
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Difficulty walking, Exaggerated startle response ORPHA:320406
Aicardi-Goutières Syndrome
Chronic lymphatic leukemia, Hepatosplenomegaly, Neonatal alloimmune thrombocytopenia, Enchondroma ORPHA:51
Cockayne Syndrome B
Abnormality of the pinna, Abnormal auditory evoked potentials, Sensorineural hearing impairment, ... OMIM:133540
Poland Syndrome
Acute leukemia, Retinal hamartoma, Neoplasm of the breast ORPHA:2911
Hyperekplexia 3
Exaggerated startle response OMIM:614618
Borjeson-Forssman-Lehmann Syndrome
Seizure, EEG abnormality, Obesity OMIM:301900
Ichthyosis And Male Hypogonadism
Hypogonadotropic hypogonadism, Male hypogonadism, Gonadotropin deficiency OMIM:308200
Acquired Aneurysmal Subarachnoid Hemorrhage
Hypothyroidism, Hypopituitarism ORPHA:90065
Noonan Syndrome 1
Juvenile myelomonocytic leukemia, Amegakaryocytic thrombocytopenia, Failure to thrive in infancy,... OMIM:163950
Koolen-De Vries Syndrome Due To A Point Mutation
Slender build, Cryptorchidism, Agenesis of corpus callosum, Primary adrenal insufficiency, Hypoth... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Slender build, Cryptorchidism, Agenesis of corpus callosum, Primary adrenal insufficiency, Hypoth... ORPHA:363958
Pearson Syndrome
Exocrine pancreatic insufficiency, Hypothyroidism, Pancreatic fibrosis, Adrenal insufficiency, Sm... ORPHA:699
Acromegaly
Pituitary growth hormone cell adenoma, Elevated circulating growth hormone concentration, Pituita... ORPHA:963
Witteveen-Kolk Syndrome
Cryptorchidism, Hypoplasia of the corpus callosum, Obesity, Dysplastic corpus callosum, Inguinal ... OMIM:613406
Steinert Myotonic Dystrophy
Male hypogonadism, Hyperinsulinemia, Hypergonadotropic hypogonadism, Abnormal cerebral white matt... ORPHA:273
Wiedemann-Rautenstrauch Syndrome
Slender build, Cryptorchidism, Loss of facial adipose tissue, Camptodactyly of finger, Agenesis o... ORPHA:3455
Niemann-Pick Disease Type B
Autoimmune thrombocytopenia, Acute promyelocytic leukemia, Neoplasm of the liver, Thrombocytopeni... ORPHA:77293
Gabriele-De Vries Syndrome
Cryptorchidism, Breast hypoplasia, Hypothyroidism, Hypoplasia of the corpus callosum, Abnormal ce... ORPHA:506358
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Exaggerated startle response OMIM:609541
Holoprosencephaly 7
Panhypopituitarism, Fusion of the left and right thalami, Omphalocele, Agenesis of corpus callosum OMIM:610828
Leukocyte Adhesion Deficiency
Thrombocytosis, Leukocytosis, Polycythemia, Impaired neutrophil chemotaxis, Acute myeloid leukemi... ORPHA:2968
Mend Syndrome
Abnormal auditory evoked potentials ORPHA:401973
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Cryptorchidism, Hypoplastic nipples, Xerostomia, Inguinal hernia, Absence of Stensen duct, Hypogo... OMIM:129900
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3
Cryptorchidism, Hypoplastic nipples, Xerostomia, Absence of Stensen duct, Hypogonadotropic hypogo... OMIM:604292
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Hypothyroidism, Microcephaly, Decreased response to growth hormone stimuation test, Obesity ORPHA:444077
Hartsfield Syndrome
Cryptorchidism, Diabetes insipidus, Microcephaly, Agenesis of corpus callosum, Gonadotropin defic... OMIM:615465
Gm1 Gangliosidosis Type 1
Seizure, Exaggerated startle response ORPHA:79255
Charge Syndrome
Cryptorchidism, Hypothyroidism, Arrhinencephaly, Aplasia/Hypoplasia of the thymus, Decreased resp... OMIM:214800
Lysinuric Protein Intolerance
Pancreatitis, Failure to thrive, Decreased response to growth hormone stimuation test ORPHA:470
Sotos Syndrome
Hemangioma, Sacrococcygeal teratoma, Neuroblastoma, Neoplasm, Astrocytoma, Acute lymphoblastic le... ORPHA:821
Glycine Encephalopathy With Normal Serum Glycine
Exaggerated startle response OMIM:617301
Microphthalmia, Syndromic 6
Cryptorchidism, Flexion contracture of thumb, Adrenal hypoplasia, Aplasia/Hypoplasia of the corpu... OMIM:607932
Axenfeld-Rieger Syndrome, Type 1
Decreased response to growth hormone stimuation test OMIM:180500
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Inability to walk, Dystonia, Generalized tonic seizure, Seizure, Exaggerated startle response, Bi... ORPHA:438213
Charge Syndrome
Cryptorchidism, Delayed puberty, Hypogonadotropic hypogonadism, Microcephaly, Anterior hypopituit... ORPHA:138
Peters Plus Syndrome
Cryptorchidism, Aplasia/Hypoplasia of the corpus callosum, Umbilical hernia, Cerebral cortical at... ORPHA:709
Alström Syndrome
Puberty and gonadal disorders, Hyoplasia of the Leydig cells, Hyperinsulinemia, Hypergonadotropic... ORPHA:64
Borjeson-Forssman-Lehmann Syndrome
Cryptorchidism, Camptodactyly of toe, Truncal obesity, Decreased testicular size, Hypogonadism, M... ORPHA:127

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Phf6

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Phf6.

There are 2 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Loss of PHF6 leads to aberrant development of human neuron-like cells. Scientific reports (November 2020) Phf6tm1b(EUCOMM)Wtsi PMC7642390
A large scale hearing loss screen reveals an extensive unexplored genetic landscape for auditory dysfunction. Nature communications (October 2017) Phf6tm1b(EUCOMM)Wtsi PMC5638796

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MGI Allele Allele Type Produced
Phf6tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) Targeting vectors, ES Cells
Phf6tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Phf6tm1b(EUCOMM)Wtsi Reporter-tagged deletion allele (post-Cre) Mice

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