Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
kalirin, RhoGEF kinase
Synonyms:
Hapip,  LOC224126,  E530005C20Rik,  2210407G14Rik

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Kalrn mutations

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

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

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

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Charcot-Marie-Tooth Disease, Axonal, Type 2V
Paresthesia, Distal sensory impairment, Sensory ataxia OMIM:616491
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Intellectual Developmental Disorder, Autosomal Recessive 54
Hyperactivity OMIM:617028
Schizophrenia 15
Hyperactivity OMIM:613950
Intellectual Developmental Disorder, Autosomal Recessive 2
Attention deficit hyperactivity disorder OMIM:607417
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Posterior Column Ataxia
Ataxia, Impaired proprioception, Impaired vibratory sensation OMIM:176250
Intellectual Developmental Disorder, Autosomal Dominant 45
Hyperactivity, Attention deficit hyperactivity disorder OMIM:617600
Autism, Susceptibility To, 20
Attention deficit hyperactivity disorder OMIM:618830
Intellectual Developmental Disorder, Autosomal Recessive 3
Hyperactivity OMIM:608443
Immunodeficiency 8
Hyperactivity OMIM:615401
Pituitary Adenoma 1, Multiple Types
Irregular menstruation, Increased serum insulin-like growth factor 1, Pituitary prolactin cell ad... OMIM:102200
Pituitary Hormone Deficiency, Combined Or Isolated, 7
Truncal obesity, Microcephaly, Short stature, Abdominal obesity, Postnatal growth retardation, De... OMIM:618160
Gangliocytoma
Adrenocorticotropic hormone excess, Decreased female libido, Pituitary null cell adenoma, Amenorr... ORPHA:251937
Pituitary Carcinoma
Pituitary thyrotropic cell adenoma, Pituitary corticotropic cell adenoma, Pituitary carcinoma, Di... ORPHA:300385
Prolactinoma
Irregular menstruation, Erectile dysfunction, Central adrenal insufficiency, Adrenocorticotropin ... ORPHA:2965
Pituitary Gigantism
Premature pubarche, Increased serum insulin-like growth factor 1, Amenorrhea, Pituitary prolactin... ORPHA:99725
X-Linked Acrogigantism
Diabetes insipidus, Increased serum insulin-like growth factor 1, Hypopituitarism, Decreased thyr... ORPHA:300373
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Hyperactivity, Abnormal social behavior ORPHA:436151
Developmental And Epileptic Encephalopathy 43
Hyperactivity, Ataxia OMIM:617113
Tsh-Secreting Pituitary Adenoma
Infertility, Irregular menstruation, Euthyroid hyperthyroxinemia, Erectile dysfunction, Central a... ORPHA:91347
Hyperlysinemia, Type I
Hyperactivity, Cognitive impairment OMIM:238700
Oliver-Mcfarlane Syndrome
Hypogonadotropic hypogonadism, Small for gestational age, Severe short stature, Cryptorchidism, D... OMIM:275400
Pituitary Dwarfism With Large Sella Turcica
Pituitary dwarfism, Hypothyroidism, Decreased response to growth hormone stimulation test, Growth... OMIM:262710
Intellectual Developmental Disorder, X-Linked 77
Hyperactivity OMIM:300454
Pituicytoma
Central diabetes insipidus, Hypogonadotropic hypogonadism, Memory impairment, Amenorrhea, Abnorma... ORPHA:251623
Arthrogryposis, distal, with hypopituitarism, mental retardation,and facial anomalies
Distal arthrogryposis, Anterior hypopituitarism, Arthrogryposis multiplex congenita, Camptodactyl... OMIM:208080
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly
Cerebral atrophy, Progressive microcephaly, Hyperactivity, Microcephaly, Hypoplasia of the corpus... OMIM:616657
Intellectual Developmental Disorder, Autosomal Recessive 66
Attention deficit hyperactivity disorder, Shyness OMIM:618221
Mehmo Syndrome
Birth length less than 3rd percentile, Small for gestational age, Delayed puberty, Obesity, Aggre... OMIM:300148
4H Leukodystrophy
Hypogonadotropic hypogonadism, Dysmetria, Dystonia, Dysdiadochokinesis, Abnormality of thyroid ph... ORPHA:289494
Pituitary Apoplexy
Central diabetes insipidus, Abnormal caudate nucleus morphology, Oligomenorrhea, Hypopituitarism,... ORPHA:95613
Isolated Growth Hormone Deficiency, Type Ia
Severe short stature, Pituitary dwarfism, Decreased response to growth hormone stimulation test, ... OMIM:262400
Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments
Memory impairment, Inertia, Anxiety, Dementia, Inappropriate behavior, Motor deterioration, Abnor... ORPHA:412066
Intellectual Developmental Disorder, X-Linked, With Panhypopituitarism
Panhypopituitarism, Hypothyroidism, Decreased response to growth hormone stimulation test, Short ... OMIM:300123
Isolated Growth Hormone Deficiency, Type Ib
Short stature, Decreased response to growth hormone stimulation test OMIM:612781
Isolated Growth Hormone Deficiency, Type Ii
Severe short stature, Pituitary dwarfism, Decreased response to growth hormone stimulation test OMIM:173100
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Large for gestational age, Multiple pancreatic beta-cell adenomas, Abnormal response to glucagon ... ORPHA:79644
X-Linked Intellectual Disability, Van Esch Type
Impaired social interactions, Intrauterine growth retardation, Cryptorchidism, Decreased serum te... ORPHA:163976
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Decreased serum insulin-like growth factor 1, Macroorchidism, Elevated circulating growth hormone... ORPHA:85327
Mccune-Albright Syndrome
Abnormal endocrine physiology, Decreased fertility, Irregular menstruation, Goiter, Increased ser... ORPHA:562
Chromosome Xq26.3 Duplication Syndrome
Increased serum insulin-like growth factor 1, Hypopituitarism, Elevated circulating growth hormon... OMIM:300942
Intellectual Developmental Disorder, Autosomal Dominant 33
Microcephaly, Hyperactivity OMIM:616311
Mccune-Albright Syndrome
Hyperthyroidism, Elevated circulating growth hormone concentration, Increased circulating prolact... OMIM:174800
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Abnormal corpus callosum morphology, Schizencephaly, Hyperactivity, Microcephaly, Lissencephaly, ... OMIM:604317
Obesity Due To Prohormone Convertase I Deficiency
Gonadotropin deficiency, Delayed puberty, Hyperinsulinemia, Obesity, Central adrenal insufficienc... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Gonadotropin deficiency, Delayed puberty, Hyperinsulinemia, Obesity, Central adrenal insufficienc... ORPHA:71526
Bonnemann-Meinecke-Reich Syndrome
Cerebral calcification, Microcephaly, Short stature, Decreased response to growth hormone stimula... ORPHA:1261
Progressive Non-Fluent Aphasia
Abnormal lower motor neuron morphology, Memory impairment, Anxiety, Frontotemporal dementia, Ment... ORPHA:100070
Leptin Receptor Deficiency
Abnormal hypothalamus morphology, Delayed puberty, Obesity, Hypergonadotropic hypogonadism, Aggre... OMIM:614963
Hypergonadotropic Hypogonadism-Cataract Syndrome
Primary amenorrhea, Hypergonadotropic hypogonadism, Secondary growth hormone deficiency, Short st... ORPHA:2410
Pituitary Adenoma 2, Growth Hormone-Secreting
Elevated circulating growth hormone concentration, Pituitary adenoma OMIM:300943
Joubert Syndrome 26
Panhypopituitarism, Short stature, Decreased response to growth hormone stimulation test, Central... OMIM:616784
X-Linked Intellectual Disability, Cilliers Type
Cryptorchidism, Decreased serum testosterone concentration, Shyness, Microcephaly, Absence of sec... ORPHA:163971
Multiple Endocrine Neoplasia Type 1
Intestinal carcinoid, Pituitary corticotropic cell adenoma, Abnormal circulating aldosterone, Pul... ORPHA:652
Somatomammotropinoma
Hypogonadotropic hypogonadism, Amenorrhea, Dysmenorrhea, Anxiety, Pituitary prolactin cell adenom... ORPHA:314769
Multiple Endocrine Neoplasia Type 4
Pituitary corticotropic cell adenoma, Pulmonary carcinoid tumor, Thymoma, Neuroendocrine neoplasm... ORPHA:276152
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome
Dysmetria, Somatic sensory dysfunction, Dysdiadochokinesis, Primary amenorrhea, Increased intramy... ORPHA:502423
Perrault Syndrome 1
Primary amenorrhea, Intention tremor, Ataxia, Gait ataxia, Short stature, Increased circulating g... OMIM:233400
Polyendocrine-Polyneuropathy Syndrome
Dystonia, Central hypothyroidism, Ataxia, Short stature, Postnatal growth retardation, Hypogonadism OMIM:616113
Encephalopathy With Intracranial Calcification, Growth Hormone Deficiency, Microcephaly, And Retinal Degeneration
Severe short stature, Decreased response to growth hormone stimulation test, Cerebral calcificati... OMIM:225755
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity OMIM:300271
Multiple Endocrine Neoplasia, Type I
Adenoma sebaceum, Thyroid adenoma, Pituitary prolactin cell adenoma, Parathyroid adenoma, Elevate... OMIM:131100
Multiple Endocrine Neoplasia, Type Iv
Hypothyroidism, Hashimoto thyroiditis, Primary hyperparathyroidism, Elevated circulating growth h... OMIM:610755
Zollinger-Ellison Syndrome
Pituitary corticotropic cell adenoma, Thyroid adenoma, Adrenocortical carcinoma, Neuroendocrine n... ORPHA:913
Ane Syndrome
Motor neuron atrophy, Hypogonadotropic hypogonadism, Multiple joint contractures, Delayed puberty... ORPHA:157954
Myopathy, Mitochondrial, And Ataxia
Dysmetria, Primary amenorrhea, Dysdiadochokinesis, Anxiety, Increased variability in muscle fiber... OMIM:617675
Microcephaly, Seizures, And Developmental Delay
Progressive microcephaly, Hyperactivity, Microcephaly, Simplified gyral pattern, Hypoplasia of th... OMIM:613402
Non-Functioning Pituitary Adenoma
Irregular menstruation, Diabetes insipidus, Panhypopituitarism, Erectile dysfunction, Central adr... ORPHA:91349
Acromegaly
Hypogonadotropic hypogonadism, Dysmenorrhea, Anxiety, Pituitary prolactin cell adenoma, Anterior ... ORPHA:963
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Enlarged polycystic ovaries, Elevated circulating growth hormone concentration, Polycystic ovarie... ORPHA:90301
Functioning Gonadotropic Adenoma
Infertility, Panhypopituitarism, Adrenocorticotropic hormone deficiency, Ovarian cyst, Oligosperm... ORPHA:91348
Bronchial Neuroendocrine Tumor
Pulmonary carcinoid tumor, Elevated circulating growth hormone concentration, Increased serum ser... ORPHA:97287
Hereditary Geniospasm
Abnormal social behavior ORPHA:53372
Neurodevelopmental Disorder With Brain Abnormalities, Poor Growth, And Dysmorphic Facies
Agenesis of corpus callosum, Aggressive behavior, Microcephaly, Short stature, Failure to thrive,... OMIM:615286
Galloway-Mowat Syndrome 6
Hypothyroidism, Decreased body weight, Intrauterine growth retardation, Paroxysmal bursts of laug... OMIM:618347
Chromosome Xq27.3-Q28 Duplication Syndrome
Intrauterine growth retardation, Small for gestational age, Cryptorchidism, Decreased serum testo... OMIM:300869
Glucagonoma
Abnormality of the thyroid gland, Primary hyperparathyroidism, Elevated circulating growth hormon... ORPHA:97280
Ppoma
Cholelithiasis, Intestinal carcinoid, Abnormality of the thyroid gland, Primary hyperparathyroidi... ORPHA:97278
Post-Traumatic Pituitary Deficiency
Central diabetes insipidus, Hypogonadotropic hypogonadism, Infertility, Delayed puberty, Amenorrh... ORPHA:95619
Grfoma
Cholelithiasis, Intestinal carcinoid, Palmoplantar hyperhidrosis, Abnormality of the thyroid glan... ORPHA:97261
Hyperprolactinemia
Menorrhagia, Infertility, Increased circulating prolactin concentration, Oligomenorrhea OMIM:615555
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Anxiety, Decreased testicular size, Overweight, Microcephaly, Short stature, Self-mutilation, Dep... ORPHA:457240
Vipoma
Abnormality of the thyroid gland, Primary hyperparathyroidism, Elevated circulating growth hormon... ORPHA:97282
Premature Ovarian Failure 1
Premature ovarian insufficiency, Increased circulating gonadotropin level, Irregular menstruation OMIM:311360
Somatostatinoma
Medullary thyroid carcinoma, Abnormality of the thyroid gland, Primary hyperparathyroidism, Eleva... ORPHA:97283
Fibrous Dysplasia Of Bone
Precocious puberty in females, Testicular neoplasm, Hyperthyroidism, Elevated circulating growth ... ORPHA:249
Growth Hormone Deficiency, Isolated Partial
Postnatal growth retardation, Small pituitary gland, Short stature, Decreased response to growth ... OMIM:615925
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Azoospermia, Abnormal spermatogenesis, Non-obstructive azoospermia, Obstructive azoospermia, Incr... ORPHA:399805
Central Precocious Puberty
Hypothalamic hamartoma, Premature thelarche, Obesity, Isosexual precocious puberty, Proportionate... ORPHA:759
Gm2 Gangliosidosis, Ab Variant
Cerebral atrophy, Cognitive impairment, Dystonia, Anxiety, Inappropriate behavior, Short stature,... ORPHA:309246
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Adrenal insufficiency, Gonadotropin deficiency, Obesity, Adrenocorticotropic hormone deficiency, ... OMIM:609734
Premature Ovarian Failure 9
Premature ovarian insufficiency, Increased circulating gonadotropin level, Amenorrhea OMIM:615724
Pituitary Deficiency Due To Empty Sella Turcica Syndrome
Central diabetes insipidus, Hypopituitarism, Increased circulating prolactin concentration, Adren... ORPHA:91354
Carney Complex, Type 1
Thyroid follicular hyperplasia, Elevated circulating growth hormone concentration, Pheochromocyto... OMIM:160980
Temple Syndrome
Small for gestational age, Cryptorchidism, Obesity, Short stature, Precocious puberty, Type II di... ORPHA:254516
Insulin-Like Growth Factor I Deficiency
Microcephaly, Hyperactivity OMIM:608747
Combined Oxidative Phosphorylation Deficiency 25
Cerebral atrophy, Short stature, Decreased response to growth hormone stimulation test OMIM:616430
49,Xxxyy Syndrome
Primary gonadal insufficiency, Low frustration tolerance, Abnormality of the testis size, Decreas... ORPHA:261534
Perrault Syndrome 4
Cognitive impairment, Primary amenorrhea, Obesity, Decreased serum estradiol, Gait ataxia, Second... OMIM:615300
Hyperostosis Frontalis Interna
Obesity, Irregular menstruation, Diabetes mellitus, Increased circulating prolactin concentration OMIM:144800
Ovarian Dysgenesis 1
Increased circulating gonadotropin level, Primary amenorrhea OMIM:233300
Panhypophysitis
Orthostatic hypotension, Abnormality of the posterior pituitary, Panhypopituitarism, Hashimoto th... ORPHA:95513
49,Xyyyy Syndrome
Primary gonadal insufficiency, Abnormality of the testis size, Low frustration tolerance, Azoospe... ORPHA:99330
Leydig Cell Hypoplasia, Type I
Increased circulating gonadotropin level, Hypergonadotropic hypogonadism OMIM:238320
Adenohypophysitis
Gonadotropin deficiency, Abnormal size of pituitary gland, Orthostatic hypotension, Decreased fem... ORPHA:95512
46,Xx Gonadal Dysgenesis
Primary amenorrhea, Decreased serum estradiol, Ataxia, Microcephaly, Secondary amenorrhea, Short ... ORPHA:243
Intellectual Developmental Disorder, X-Linked 104
Hyperactivity, Cerebral cortical atrophy, Poor eye contact, Hypoplasia of the corpus callosum OMIM:300983
Laryngeal Neuroendocrine Tumor
Adrenocorticotropic hormone excess, Increased serum serotonin, Neuroendocrine neoplasm, Inappropr... ORPHA:100083
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Primary adrenal insufficiency, Irregular menstruation, Primary amenorrhea, Elevated circulating l... ORPHA:90793
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Decreased ... ORPHA:2235
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Infertility, Primary amenorrhea, Skeletal muscle atrophy, Decreased serum testosterone concentrat... ORPHA:168563
11Q22.2Q22.3 Microdeletion Syndrome
Abnormal social behavior, Attention deficit hyperactivity disorder, Poor eye contact, Hypoplasia ... ORPHA:444002
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive
Severe short stature, Failure to thrive, Decreased response to growth hormone stimulation test OMIM:245590
Pseudohypoparathyroidism Type 1B
Pseudohypoparathyroidism, Pituitary resistance to thyroid hormone, Anxiety, Paresthesia, Laryngea... ORPHA:94089
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Hyperactivity, Cerebral cortical atrophy, Periventricular white matter hyperintensities, Attentio... OMIM:301008
Boomerang Dysplasia
Cryptorchidism, Severe short-limb dwarfism, Decreased response to growth hormone stimulation test... ORPHA:1263
Stiff Person Spectrum Disorder
Hypothyroidism, Paraspinal muscle hypertrophy, Anxiety, Emotional lability, Diabetes mellitus, Ex... ORPHA:3198
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Infertility, Primary amenorrhea, Central hypothyroidism, Cryptorchidism, Perisylvian polymicrogyr... ORPHA:98754
Glycosylphosphatidylinositol Biosynthesis Defect 17
Dysplastic corpus callosum, Overfriendliness, Primary microcephaly OMIM:618010
Pachydermoperiostosis
Elevated circulating growth hormone concentration, Impaired temperature sensation, Hyperhidrosis ORPHA:2796
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Abnormal sperm tail morphology, Abnormal sperm morphology, Non-obstructive azoospermia, Abnormal ... ORPHA:399808
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Infertility, Primary amenorrhea, Central hypothyroidism, Cryptorchidism, Perisylvian polymicrogyr... ORPHA:98793
Aminoacylase 1 Deficiency
Cerebral atrophy, Hyperactivity OMIM:609924
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Infertility, Primary amenorrhea, Central hypothyroidism, Cryptorchidism, Perisylvian polymicrogyr... ORPHA:177904
Isolated Growth Hormone Deficiency, Type Iv
Anterior pituitary hypoplasia, Severe short stature, Decreased serum insulin-like growth factor 1... OMIM:618157
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Infertility, Primary amenorrhea, Central hypothyroidism, Cryptorchidism, Perisylvian polymicrogyr... ORPHA:177901
Pseudohypoparathyroidism Type 1C
Cerebral calcification, Pseudohypoparathyroidism, Pituitary resistance to thyroid hormone, Oligom... ORPHA:79444
Non-Acquired Combined Pituitary Hormone Deficiency-Sensorineural Hearing Loss-Spine Abnormalities Syndrome
Gonadotropin deficiency, Anterior pituitary hypoplasia, Adrenocorticotropic hormone deficiency, S... ORPHA:231720
Neurodevelopmental Disorder With Seizures, Hypotonia, And Brain Imaging Abnormalities
Cerebral atrophy, Hypothyroidism, Panhypopituitarism, Hippocampal atrophy, Limb hypertonia, Micro... OMIM:618922
Intellectual Disability-Strabismus Syndrome
Achilles tendon contracture, Hypothyroidism, Hypohidrosis, Intrauterine growth retardation, Agene... ORPHA:363528
Gomez-Lopez-Hernandez Syndrome
Cognitive impairment, Self-injurious behavior, Ataxia, Short stature, Bipolar affective disorder,... OMIM:601853
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia
Infertility, Decreased circulating follicle stimulating hormone concentration, Primary amenorrhea... OMIM:229070
Encephalopathy, Progressive, With Or Without Lipodystrophy
Cerebral atrophy, Hyperactivity, Mental deterioration OMIM:615924
Pituitary Hormone Deficiency, Combined, 3
Gonadotropin deficiency, Anterior pituitary hypoplasia, Pituitary dwarfism, Anterior hypopituitar... OMIM:221750
Meningioma
Focal T2 hypointense thalamic lesion, Cognitive impairment, Lower limb muscle weakness, Decreased... ORPHA:2495
Cohen Syndrome
Facial hypotonia, Small for gestational age, Delayed puberty, Microcephaly, Short stature, Thick ... OMIM:216550
47,Xyy Syndrome
Impaired social interactions, Cryptorchidism, Increased serum testosterone level, Azoospermia, Ol... ORPHA:8
Hypotonia-Cystinuria Syndrome
Facial palsy, Failure to thrive, Decreased response to growth hormone stimulation test, Hypergona... OMIM:606407
15Q24 Microdeletion Syndrome
Small for gestational age, Cryptorchidism, Obesity, Congenital diaphragmatic hernia, Microcephaly... ORPHA:94065
Smith-Magenis syndrome
Hyperactivity DECIPHER:8
Sheehan Syndrome
Orthostatic hypotension, Panhypopituitarism, Hashimoto thyroiditis, Central adrenal insufficiency... ORPHA:91355
Prader-Willi-Like Syndrome
Infertility, Primary amenorrhea, Central hypothyroidism, Cryptorchidism, Perisylvian polymicrogyr... ORPHA:398073
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Intrauterine growth retardation, Cryptorchidism, Adrenal hypoplasia, Postnatal growth retardation... OMIM:614732
Childhood Disintegrative Disorder
Impaired social interactions, Progressive language deterioration, Dementia, Motor deterioration, ... ORPHA:168782
Septooptic Dysplasia
Agenesis of corpus callosum, Diabetes insipidus, Anterior pituitary hypoplasia, Optic nerve hypop... OMIM:182230
Myasthenic Syndrome, Congenital, 22
Short stature, Decreased response to growth hormone stimulation test OMIM:616224
Stiff-Person Syndrome
Opisthotonus, Anxiety, Axial muscle stiffness, Diabetes mellitus, Asymmetric limb muscle stiffnes... OMIM:184850
Resistance To Thyrotropin-Releasing Hormone Syndrome
Reduced radioactive iodine uptake, Growth delay, Increased circulating prolactin concentration, D... ORPHA:99832
Intellectual Developmental Disorder, Autosomal Dominant 43
Microcephaly, Cerebral atrophy, Hyperactivity, Hypoplasia of the corpus callosum OMIM:616977
Juberg-Hayward Syndrome
Microcephaly, Short stature, Decreased response to growth hormone stimulation test OMIM:216100
Xq21 Microdeletion Syndrome
Abnormality of the Achilles tendon, Dysdiadochokinesis, Obesity, Anterior hypopituitarism, Growth... ORPHA:1435
Prader-Willi Syndrome
Adrenal insufficiency, Hypogonadotropic hypogonadism, Infertility, Primary amenorrhea, Failure to... OMIM:176270
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Multiple joint contractures, Impaired vibration sensation in the lower limbs, Optic disc pallor, ... ORPHA:320406
Pseudohypoparathyroidism Type 1A
Cerebral calcification, Pseudohypoparathyroidism, Choreoathetosis, Pituitary resistance to thyroi... ORPHA:79443
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome
Delayed puberty, Azoospermia, Hypergonadotropic hypogonadism, Short stature, Decreased response t... ORPHA:280679
16P12.1P12.3 Triplication Syndrome
Nail-biting, Intrauterine growth retardation, Anxiety, Failure to thrive, Bilateral cryptorchidis... ORPHA:485405
Acrootoocular Syndrome
Small thenar eminence, Small hypothenar eminence, Small for gestational age, Abnormality of facia... ORPHA:2980
Carney Complex
Testicular adrenal rest tumor, Ovarian carcinoma, Increased circulating prolactin concentration, ... ORPHA:1359
Early-Onset Schizophrenia
Suicidal ideation, Cognitive impairment, Lack of peer relationships, Decreased female libido, No ... ORPHA:96369
Duodenal Neuroendocrine Tumor
Intestinal carcinoid, Paraganglioma, Elevated circulating growth hormone concentration, Insulinom... ORPHA:100076
Autosomal Recessive Non-Syndromic Intellectual Disability
Cerebral atrophy, Hyperactivity, Microcephaly, Cortical dysplasia, Hypoplasia of the corpus callo... ORPHA:88616
Dihydropyrimidine Dehydrogenase Deficiency
Microcephaly, Cerebral atrophy, Hyperactivity, Agenesis of corpus callosum OMIM:274270
Immunodeficiency 54
Adrenal insufficiency, Adrenocorticotropic hormone excess, Intrauterine growth retardation, Micro... OMIM:609981
Early-Onset Autosomal Dominant Alzheimer Disease
Semantic dementia, Neurofibrillary tangles, Memory impairment, Disinhibition, Deposits immunoreac... ORPHA:1020
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Panhypopituitarism, Decreased thyroid-stimulating hormone level, Optic nerve hypoplasia, Macroglo... ORPHA:226307
Williams-Beuren Region Duplication Syndrome
Cryptorchidism, Anxiety, Short stature, Hypoplasia of the corpus callosum, Decreased response to ... OMIM:609757
Maternal Uniparental Disomy Of Chromosome 2
Hypothyroidism, Intrauterine growth retardation, Chordee, Contractures of the large joints, Misca... ORPHA:96179
Hsd10 Disease
Microcephaly, Frontotemporal cerebral atrophy, Abnormal social behavior, Focal white matter lesions ORPHA:391417
Premature Ovarian Failure 17
Decreased antimullerian hormone level, Elevated circulating luteinizing hormone level, Decreased ... OMIM:619146
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Microcephaly, Simplified gyral pattern, Hyperactivity, Periventricular white matter hyperintensities OMIM:619470
Srd5A3-Cdg
Hypothyroidism, Decreased response to growth hormone stimulation test, Ataxia, Optic atrophy ORPHA:324737
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Impaired social interactions, Gonadotropin deficiency, Central diabetes insipidus, Hypohidrosis, ... ORPHA:293987
Ovarian Dysgenesis 9
Decreased antimullerian hormone level, Primary amenorrhea, Elevated circulating luteinizing hormo... OMIM:619665
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Small hypothenar eminence, Infertility, Primary amenorrhea, Cryptorchidism, Decreased serum estra... ORPHA:2232
Fanconi Anemia, Complementation Group I
Hypothyroidism, Decreased body weight, Colpocephaly, Intrauterine growth retardation, Agenesis of... OMIM:609053
Polyendocrine-Polyneuropathy Syndrome
Hypogonadotropic hypogonadism, Dystonia, Decreased circulating follicle stimulating hormone conce... ORPHA:453533
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Hyperactivity, Attention deficit hyperactivity disorder OMIM:617182
Pitt-Hopkins-Like Syndrome 1
Impaired social interactions, Focal cortical dysplasia, Progressive language deterioration, Hyper... OMIM:610042
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Azoospermia, Hypergonadotropic hypogonadism, Short stature, Decreased response to growth hormone ... OMIM:300845
Acrodysostosis 1 With Or Without Hormone Resistance
Irregular menstruation, Disproportionate short-limb short stature, Intrauterine growth retardatio... OMIM:101800
Glycine Encephalopathy
Hyperactivity, Agenesis of corpus callosum OMIM:605899
Craniopharyngioma
Central diabetes insipidus, Abnormal hypothalamus morphology, Cerebral calcification, Hypogonadot... ORPHA:54595
Prader-Willi Syndrome
Infertility, Primary amenorrhea, Central hypothyroidism, Cryptorchidism, Perisylvian polymicrogyr... ORPHA:739
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Gonadotropin deficiency, Dystonia, Choreoathetosis, Ataxia, Congenital hypothyroidism, Compensate... OMIM:610978
Rhyns Syndrome
Decreased response to growth hormone stimulation test, Short stature, Pituitary hypothyroidism, A... OMIM:602152
Adrenomyeloneuropathy
Leg muscle stiffness, Adrenal insufficiency, Adrenocorticotropic hormone excess, Primary adrenal ... ORPHA:139399
Non-Acquired Panhypopituitarism
Hypogonadotropic hypogonadism, Ectopic anterior pituitary gland, Infertility, Delayed puberty, An... ORPHA:90695
Pituitary Deficiency Due To Rathke Cleft Cysts
Hypogonadotropic hypogonadism, Optic nerve compression, Diabetes insipidus, Panhypopituitarism, H... ORPHA:91350
Pseudopapilledema, Ocular Hypotelorism, Blepharophimosis, And Hand Anomalies
Short stature, Pseudopapilledema, Failure to thrive, Decreased response to growth hormone stimula... OMIM:264475
Cataract-Growth Hormone Deficiency-Sensory Neuropathy-Sensorineural Hearing Loss-Skeletal Dysplasia Syndrome
Short stature, Decreased response to growth hormone stimulation test ORPHA:436174
Premature Ovarian Failure 6
Primary amenorrhea, Elevated circulating luteinizing hormone level, Secondary amenorrhea, Elevate... OMIM:612310
Cardiofaciocutaneous Syndrome 4
Optic nerve hypoplasia, Short stature, Thin corpus callosum, Decreased response to growth hormone... OMIM:615280
Aromatic L-Amino Acid Decarboxylase Deficiency
Choreoathetosis, Oculogyric crisis, Blepharospasm, Limb hypertonia, Athetosis, Limb dystonia, Emo... OMIM:608643
Noonan Syndrome 12
Decreased response to growth hormone stimulation test OMIM:618624
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, Genital Anomalies, And Immunodeficiency
Decreased body weight, Intrauterine growth retardation, Severe short stature, Microcephaly, Bilat... OMIM:618336
Van Esch-O'Driscoll Syndrome
Cerebral atrophy, Intrauterine growth retardation, Growth delay, Shyness, Microcephaly, Short sta... OMIM:301030
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia
Flexion contracture, Central adrenal insufficiency, Short stature, Distal sensory impairment, Cer... OMIM:616007
Premature Ovarian Failure 10
Hypothyroidism, Primary amenorrhea, Azoospermia, Elevated circulating luteinizing hormone level, ... OMIM:612885
Precocious Puberty, Central, 1
Hypothyroidism, Elevated circulating luteinizing hormone level, Short stature, Elevated circulati... OMIM:176400
Juvenile Huntington Disease
Dementia, Hyperactivity, Neuronal loss in basal ganglia, Abnormal cerebral white matter morphology ORPHA:248111
Premature Ovarian Failure 7
Primary amenorrhea, Elevated circulating luteinizing hormone level, Secondary amenorrhea, Elevate... OMIM:612964
Premature Ovarian Failure 18
Decreased antimullerian hormone level, Irregular menstruation, Elevated circulating luteinizing h... OMIM:619203
Leydig Cell Hypoplasia
Hyoplasia of the Leydig cells, Primary gonadal insufficiency, Female hypogonadism, Primary amenor... ORPHA:755
Lennox-Gastaut Syndrome
Hyperactivity, Mental deterioration ORPHA:2382
Semilobar Holoprosencephaly
Abnormality of the autonomic nervous system, Flexion contracture, Diabetes insipidus, Central hyp... ORPHA:220386
Prader-Willi Syndrome Due To Translocation
Impaired social interactions, Happy demeanor, Hypogonadotropic hypogonadism, Intrauterine growth ... ORPHA:177907
Alobar Holoprosencephaly
Abnormality of the autonomic nervous system, Flexion contracture, Diabetes insipidus, Central hyp... ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Abnormality of the autonomic nervous system, Flexion contracture, Diabetes insipidus, Central hyp... ORPHA:93926
Lobar Holoprosencephaly
Abnormality of the autonomic nervous system, Flexion contracture, Diabetes insipidus, Central hyp... ORPHA:93924
Pituitary Dermoid And Epidermoid Cysts
Amenorrhea, Oligomenorrhea, Panhypopituitarism, Anterior hypopituitarism, Increased circulating p... ORPHA:91351
Premature Ovarian Failure 8
Primary amenorrhea, Elevated circulating luteinizing hormone level, Decreased serum estradiol, Ov... OMIM:615723
Wiedemann-Steiner Syndrome
Abnormal corpus callosum morphology, Low frustration tolerance, Intrauterine growth retardation, ... ORPHA:319182
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Hyperactivity, Hypoplasia of the corpus callosum OMIM:618090
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Cryptorchidism, Severe intrauterine growth retardation, Microcephaly, Hypoplasia of the corpus ca... OMIM:241410
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Flexion contracture, Optic disc pallor, Exaggerated startle response, Distal amyotrophy, Optic at... OMIM:609541
Sandhoff Disease
Orthostatic hypotension, Hypohidrosis, Skeletal muscle atrophy, Ataxia, Impaired temperature sens... OMIM:268800
Thymic Neuroendocrine Tumor
Neuroendocrine neoplasm, Pituitary prolactin cell adenoma, Primary hyperparathyroidism, Increased... ORPHA:97289
Rasmussen Subacute Encephalitis
Cognitive impairment, Abnormality of the basal ganglia, Cerebral cortical hemiatrophy, Focal cort... ORPHA:1929
Female Restricted Epilepsy With Intellectual Disability
Hyperactivity, Abnormal social behavior ORPHA:101039
Premature Ovarian Failure 16
Premature ovarian insufficiency, Elevated circulating follicle stimulating hormone level, Decreas... OMIM:618723
Hypogonadism-Cataract Syndrome
Infertility, Elevated circulating follicle stimulating hormone level, Male hypogonadism, Hypogona... OMIM:240950
Silver-Russell Syndrome 1
Decreased response to growth hormone stimulation test, Intrauterine growth retardation, Small for... OMIM:180860
Combined Pituitary Hormone Deficiencies, Genetic Forms
Infertility, Septo-optic dysplasia, Optic nerve hypoplasia, Decreased response to growth hormone ... ORPHA:95494
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7
Intrauterine growth retardation, Small for gestational age, Cryptorchidism, Severe intrauterine g... ORPHA:96182
Ovarian Dysgenesis 8
Elevated circulating luteinizing hormone level, Elevated circulating follicle stimulating hormone... OMIM:618187
Developmental And Epileptic Encephalopathy 68
Flexion contracture, Microcephaly, Failure to thrive, Cerebral cortical atrophy, Exaggerated star... OMIM:618201
Alstrom Syndrome
Hypothyroidism, Irregular menstruation, Diabetes insipidus, Hyperinsulinemia, Hypergonadotropic h... OMIM:203800
Severe Intellectual Disability And Progressive Spastic Paraplegia
Shyness, Microcephaly, Cerebral cortical atrophy, Abnormal periventricular white matter morpholog... ORPHA:280763
Myotonic Dystrophy 2
Type 2 muscle fiber atrophy, Oligospermia, Elevated circulating follicle stimulating hormone leve... OMIM:602668
Frasier Syndrome
Primary amenorrhea, Decreased serum estradiol, Increased circulating gonadotropin level, Hypergon... ORPHA:347
Woodhouse-Sakati Syndrome
Hypothyroidism, Dystonia, Choreoathetosis, Delayed puberty, Hyperinsulinemia, Abnormal spermatoge... ORPHA:3464
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Hypogonadotropic hypogonadism, Testicular microlithiasis, Azoospermia, Abnormal spermatogenesis, ... OMIM:228300
Anterior Chamber Cleavage Disorder, Cerebellar Hypoplasia, Hypothyroidism, And Tracheal Stenosis
Decreased response to growth hormone stimulation test, Growth delay, Congenital hypothyroidism OMIM:601427
Short Stature, Oligodontia, Dysmorphic Facies, And Motor Delay
Hypothyroidism, Delayed puberty, Bilateral camptodactyly, Growth delay, Microcephaly, Short statu... OMIM:619234
Chromosome 18Q Deletion Syndrome
Failure to thrive in infancy, Cryptorchidism, Microcephaly, Short stature, Chorea, Decreased resp... OMIM:601808
Premature Ovarian Failure 14
Elevated circulating luteinizing hormone level, Elevated circulating follicle stimulating hormone... OMIM:618014
Fanconi Anemia, Complementation Group W
Intrauterine growth retardation, Growth delay, Microcephaly, Abnormal periventricular white matte... OMIM:617784
Steinert Myotonic Dystrophy
Cognitive impairment, Abnormality of masticatory muscle, Ovarian carcinoma, Aggressive behavior, ... ORPHA:273
Premature Ovarian Failure 11
Secondary amenorrhea, Elevated circulating follicle stimulating hormone level, Oligomenorrhea OMIM:616946
Isolated Thyroid-Stimulating Hormone Deficiency
Increased pituitary glycoprotein hormone alpha subunit level, Reduced radioactive iodine uptake, ... ORPHA:90674
Phenylketonuria
Microcephaly, Hyperactivity, Cerebral calcification, Attention deficit hyperactivity disorder OMIM:261600
X-Linked Intellectual Disability With Isolated Growth Hormone Deficiency
Anterior pituitary hypoplasia, Short stature, Decreased serum insulin-like growth factor 1, Hypop... ORPHA:67045
Tbck-Related Intellectual Disability Syndrome
Hypothyroidism, Cognitive impairment, Hypoplasia of the corpus callosum, Diastasis recti, Skeleta... ORPHA:488632
Tay-Sachs Disease
Dysmetria, Dystonia, Memory impairment, Skeletal muscle atrophy, Lower limb muscle weakness, Hip ... ORPHA:845
Estrogen Resistance Syndrome
Abnormal circulating hormone concentration, Primary amenorrhea, Hyperinsulinemia, Absence of pube... ORPHA:785
Asparagine Synthetase Deficiency
Hypoplasia of the corpus callosum, Progressive microcephaly, Microcephaly, Diaphragmatic eventrat... OMIM:615574
Spermatogenic Failure 28
Azoospermia, Elevated circulating luteinizing hormone level, Elevated circulating follicle stimul... OMIM:618086
Ritscher-Schinzel Syndrome 1
Decreased response to growth hormone stimulation test, Intrauterine growth retardation, Adrenal h... OMIM:220210
Deeah Syndrome
Exocrine pancreatic insufficiency, Decreased body weight, Hypohidrosis, Intrauterine growth retar... OMIM:619004
Dopa-Responsive Dystonia
Fatigable weakness, Abnormal social behavior ORPHA:255
Lamb-Shaffer Syndrome
Microcephaly, Hyperactivity, Abnormal social behavior ORPHA:530983
Metachromatic Leukodystrophy, Adult Form
Dystonia, Memory impairment, Intention tremor, Abnormal social behavior, Dementia, Decreased nerv... ORPHA:309271
Helsmoortel-Van Der Aa Syndrome
Obesity, Short stature, Decreased response to growth hormone stimulation test OMIM:615873
Mosaic Variegated Aneuploidy Syndrome 2
Hypothyroidism, Intrauterine growth retardation, Small for gestational age, Rhizomelia, Growth de... OMIM:614114
46,Xy Sex Reversal 11
Decreased antimullerian hormone level, Primary amenorrhea, Elevated circulating luteinizing hormo... OMIM:273250
Gonadal Dysgenesis, Dysmorphic Facies, Retinal Dystrophy, And Myopathy
Agenesis of corpus callosum, Small for gestational age, Diastasis recti, Elevated circulating lut... OMIM:618419
Intellectual Developmental Disorder, Autosomal Recessive 13
Secondary microcephaly, Hyperactivity, Hypoplasia of the corpus callosum OMIM:613192
Gm2-Gangliosidosis, Ab Variant
Cerebral atrophy, Dystonia, Dementia, Apathy, Chorea, Exaggerated startle response OMIM:272750
Koolen-De Vries Syndrome Due To A Point Mutation
Hand muscle atrophy, Primary adrenal insufficiency, Hypothyroidism, Pineal cyst, Small for gestat... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Hand muscle atrophy, Primary adrenal insufficiency, Hypothyroidism, Pineal cyst, Small for gestat... ORPHA:363958
Androgen Insensitivity Syndrome
Elevated circulating luteinizing hormone level, Elevated circulating follicle stimulating hormone... OMIM:300068
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome
Microcephaly, Hyperactivity, Cortical dysplasia, Hypoplasia of the corpus callosum ORPHA:457260
Solitary Median Maxillary Central Incisor
Microcephaly, Short stature, Decreased response to growth hormone stimulation test, Anterior hypo... OMIM:147250
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome
Pelvic girdle muscle atrophy, Elevated circulating luteinizing hormone level, Decreased serum tes... ORPHA:3044
Severe Neurodegenerative Syndrome With Lipodystrophy
Cerebral atrophy, Cognitive impairment, Caudate atrophy, Hyperactivity, Progressive psychomotor d... ORPHA:363400
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Abnormal cortical gyration, Hypoplasia of the corpus callosum, Palmoplantar hyperhidrosis, Cognit... OMIM:617527
46,Xy Partial Gonadal Dysgenesis
Decreased fertility in females, Adrenal insufficiency, Primary gonadal insufficiency, Primary ame... ORPHA:251510
Nelson Syndrome
Adrenocorticotropic hormone excess, Pituitary corticotropic cell adenoma, Pituitary carcinoma, Di... ORPHA:199244
Mpdu1-Cdg
Decreased response to growth hormone stimulation test, Decreased serum insulin-like growth factor... ORPHA:79323
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Abnormal size of pituitary gland, Decreased circulating androgen concentration, Decreased circula... ORPHA:293978
Craniofacial Dysmorphism, Skeletal Anomalies, And Mental Retardation Syndrome
Large for gestational age, Anxiety, Supernumerary nipple, Microcephaly, Short stature, Self-mutil... OMIM:213980
Severe Motor And Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome
Hyperactivity, Cerebral white matter atrophy, Microcephaly, Cerebral cortical atrophy, Corpus cal... ORPHA:369939
8p23.1 deletion syndrome
Hyperactivity DECIPHER:39
Coffin-Siris Syndrome 9
Intrauterine growth retardation, Delayed puberty, Growth delay, Microcephaly, Short stature, Decr... OMIM:615866
Spondyloenchondrodysplasia
Cerebral calcification, Hypothyroidism, Disproportionate short-trunk short stature, Abnormal late... ORPHA:1855
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Dystonia, Facial hypotonia, Anxiety, Ataxia, Microcephaly, Exaggerated startle response ORPHA:438216
Chromosome Xp11.23-P11.22 Duplication Syndrome
Shyness OMIM:300801
Gabriele-De Vries Syndrome
Hypothyroidism, Distal arthrogryposis, Dystonia, Facial hypotonia, Small for gestational age, Int... ORPHA:506358
Webb-Dattani Syndrome
Hypoplasia of the corpus callosum, Diabetes insipidus, Cryptorchidism, Microcephaly, Pituitary hy... OMIM:615926
46,Xy Disorder Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Primary amenorrhea, Cryptorchidism, Elevated circulating luteinizing hormone level, Abnormal circ... ORPHA:90796
Histidinemia
Hyperactivity ORPHA:2157
46,Xy Sex Reversal 1
Primary amenorrhea, Elevated circulating luteinizing hormone level, Elevated circulating follicle... OMIM:400044
Pmm2-Cdg
Hypogonadotropic hypogonadism, Multiple joint contractures, Hyperinsulinemia, Elevated circulatin... ORPHA:79318
Pycnodysostosis
Cerebral dysmyelination, Intrauterine growth retardation, Rhizomelia, Overweight, Decreased serum... ORPHA:763
Blepharophimosis, Ptosis, And Epicanthus Inversus
Irregular menstruation, Amenorrhea, Female infertility, Premature ovarian insufficiency, Increase... OMIM:110100
Poems Syndrome
Hypothyroidism, Primary adrenal insufficiency, Erectile dysfunction, Hyperesthesia, Increased cir... ORPHA:2905
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Hypothyroidism, Intrauterine growth retardation, Small for gestational age, Failure to thrive in ... ORPHA:268261
Intellectual Disability, Birk-Barel Type
Hyperactivity, Fatigable weakness of skeletal muscles, Fatiguable weakness of proximal limb muscles ORPHA:166108
Immunodeficiency, Common Variable, 10
Decreased response to growth hormone stimulation test, Central adrenal insufficiency, Abnormal re... OMIM:615577
Monosomy 18Q
Hypothyroidism, Choreoathetosis, Slender build, Growth delay, Microcephaly, Secondary growth horm... ORPHA:1600
Turner Syndrome Due To Structural X Chromosome Anomalies
Primary amenorrhea, Failure to thrive in infancy, Hashimoto thyroiditis, Premature ovarian insuff... ORPHA:99413
Turner Syndrome
Primary amenorrhea, Failure to thrive in infancy, Hashimoto thyroiditis, Premature ovarian insuff... ORPHA:881
Mosaic Monosomy X
Primary amenorrhea, Failure to thrive in infancy, Hashimoto thyroiditis, Premature ovarian insuff... ORPHA:99228
Monosomy X
Primary amenorrhea, Failure to thrive in infancy, Hashimoto thyroiditis, Premature ovarian insuff... ORPHA:99226
Myoclonic-Astatic Epilepsy
Impaired social interactions, Lack of peer relationships, Hyperactivity, Microcephaly, Attention ... ORPHA:1942
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Increased circulating androstenedione concentration, Adrenocorticotropic hormone excess, Increase... ORPHA:90791
Fanconi Anemia, Complementation Group F
Intrauterine growth retardation, Cryptorchidism, Microcephaly, Short stature, Failure to thrive, ... OMIM:603467
Aarskog-Scott Syndrome
Cryptorchidism, Elevated circulating luteinizing hormone level, Mild short stature, Decreased ser... OMIM:305400
Meier-Gorlin Syndrome 6
Delayed puberty, Small for gestational age, Severe short stature, Cryptorchidism, Microcephaly, S... OMIM:616835
Histiocytosis-Lymphadenopathy Plus Syndrome
Azoospermia, Pancreatic hypoplasia, Joint contracture of the 5th finger, Hypergonadotropic hypogo... OMIM:602782
Complete Androgen Insensitivity Syndrome
Increased antimullerian hormone level, Primary amenorrhea, Elevated circulating luteinizing hormo... ORPHA:99429
Cntnap2-Related Developmental And Epileptic Encephalopathy
Progressive language deterioration, Hyperactivity, Mental deterioration, Poor eye contact, Perive... ORPHA:163681
Plaa-Associated Neurodevelopmental Disorder
Abnormal cortical gyration, Hypoplasia of the corpus callosum, Dystonia, Contractures of the larg... ORPHA:521426
Tay-Sachs Disease
Apathy, Dementia, Psychomotor deterioration, Exaggerated startle response OMIM:272800
Joubert Syndrome 38
Small pituitary gland, Short stature, Decreased serum insulin-like growth factor 1, Decreased res... OMIM:619476
45,X/46,Xy Mixed Gonadal Dysgenesis
Unilateral cryptorchidism, Hypothyroidism, Chordee, Ovarian serous cystadenoma, Cryptorchidism, A... ORPHA:1772
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Cerebral atrophy, Hyperintensity of cerebral white matter on MRI, Hyperactivity, Microcephaly, Hy... ORPHA:500180
Cln5 Disease
Hyperactivity, Mental deterioration, Cerebral cortical atrophy, Corpus callosum atrophy, Perivent... ORPHA:228360
Witteveen-Kolk Syndrome
Dysplastic corpus callosum, Intrauterine growth retardation, Small for gestational age, Cryptorch... OMIM:613406
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies
Agenesis of corpus callosum, Microcephaly, Short stature, Hypoplasia of the corpus callosum, Decr... OMIM:617260
Glycine Encephalopathy With Normal Serum Glycine
Hypoplasia of the corpus callosum, Flexion contracture, Microcephaly, Hip contracture, Arthrogryp... OMIM:617301
Late Infantile Neuronal Ceroid Lipofuscinosis
Cerebral atrophy, Dementia, Motor deterioration, Mental deterioration, Hyperactivity, Corpus call... ORPHA:168491
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Agyria, Flexion contracture, Agenesis of corpus callosum, Congenital muscular dystrophy, Skeletal... OMIM:253800
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Decreased fertility, Adrenocorticotropic hormone excess, Primary adrenal insufficiency, Agenesis ... ORPHA:289548
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Decreased fertility, Adrenocorticotropic hormone excess, Primary adrenal insufficiency, Agenesis ... ORPHA:168558
Acrodysostosis With Multiple Hormone Resistance
Pseudohypoparathyroidism, Intrauterine growth retardation, Cryptorchidism, Obesity, Mild short st... ORPHA:280651
Pallister-Hall Syndrome
Hypothalamic hamartoma, Intrauterine growth retardation, Panhypopituitarism, Cryptorchidism, Decr... OMIM:146510
Adrenal Insufficiency, Congenital, With 46,Xy Sex Reversal, Partial Or Complete
Adrenal insufficiency, Adrenocorticotropic hormone excess, Hyperaldosteronism OMIM:613743
Pearson Syndrome
Exocrine pancreatic insufficiency, Adrenal insufficiency, Hypothyroidism, Small for gestational a... ORPHA:699
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Impaired social interactions, Hyperactivity, Poor eye contact, Shyness, Attention deficit hyperac... ORPHA:449291
Wiedemann-Rautenstrauch Syndrome
Action tremor, Slender build, Cryptorchidism, Increased serum estradiol, Increased circulating pr... ORPHA:3455
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Hashimoto thyroiditis, Short stature, Decreased response to growth hormone stimulation test, Hypo... OMIM:618223
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Short stature, Decreased response to growth hormone stimulation test, Prostatitis, Delayed puberty OMIM:307200
Ovarian Hyperstimulation Syndrome
Hemorrhagic ovarian cyst, Increased serum testosterone level, Ovarian cyst, Enlarged polycystic o... ORPHA:64739
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Microcephaly, Short stature, Exaggerated startle response OMIM:618367
Intellectual Developmental Disorder, Autosomal Recessive 71
Hyperactivity, Attention deficit hyperactivity disorder OMIM:618504
Childhood Absence Epilepsy
Attention deficit hyperactivity disorder, Abnormal social behavior ORPHA:64280
Blepharophimosis-Impaired Intellectual Development Syndrome
Attention deficit hyperactivity disorder, Overfriendliness, Thin corpus callosum OMIM:619293
Holoprosencephaly 9
Abnormal cortical gyration, Anterior pituitary hypoplasia, Panhypopituitarism, Cryptorchidism, Op... OMIM:610829
Shwachman-Diamond Syndrome
Exocrine pancreatic insufficiency, Hypopituitarism, Pancreatic hypoplasia, Growth delay, Failure ... ORPHA:811
Tonne-Kalscheuer Syndrome
Microcephaly, Shyness OMIM:300978
Pallister-Hall Syndrome
Hypothalamic hamartoma, Abnormal corpus callosum morphology, Distal arthrogryposis, Primary adren... ORPHA:672
Metachromatic Leukodystrophy, Juvenile Form
Progressive psychomotor deterioration, Punctate periventricular T2 hyperintense foci, Abnormal so... ORPHA:309263
X-Linked Adrenoleukodystrophy
Dementia, Cognitive impairment, Hyperactivity, Attention deficit hyperactivity disorder ORPHA:43
Eec Syndrome
Hypohidrosis, Anterior hypopituitarism, Short stature, Hypoplasia of the thymus, Decreased respon... ORPHA:1896
46,Xy Sex Reversal 3
Elevated circulating luteinizing hormone level, Elevated circulating follicle stimulating hormone... OMIM:612965
Partial Androgen Insensitivity Syndrome
Increased antimullerian hormone level, Male sexual dysfunction, Primary amenorrhea, Azoospermia, ... ORPHA:90797
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Primary amenorrhea, Cryptorchidism, Elevated circulating luteinizing hormone level, Abnormal circ... ORPHA:95699
Cri-Du-Chat Syndrome
Microcephaly, Hyperactivity, Overfriendliness OMIM:123450
Spastic Tetraplegia And Axial Hypotonia, Progressive
Ataxia, Exaggerated startle response OMIM:618598
Hyperekplexia-Epilepsy Syndrome
Hypoplasia of the frontal lobes, Exaggerated startle response ORPHA:163985
48,Xxxy Syndrome
Attention deficit hyperactivity disorder, Abnormal social behavior ORPHA:96263
Fg Syndrome Type 1
Aplasia/Hypoplasia of the corpus callosum, Small pituitary gland, Attention deficit hyperactivity... ORPHA:93932
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Hyperactivity, Overfriendliness ORPHA:369891
49,Xxxxy Syndrome
Arrhinencephaly, Shyness, Overfriendliness, Hypoplasia of the corpus callosum, Attention deficit ... ORPHA:96264
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Hypothyroidism, Obesity, Macroglossia, Microcephaly, Short stature, Decreased response to growth ... ORPHA:444077
46,Xy Sex Reversal 5
Elevated circulating follicle stimulating hormone level OMIM:613080
Developmental And Epileptic Encephalopathy 8
Exaggerated startle response OMIM:300607
Gm1 Gangliosidosis Type 1
Intrauterine growth retardation, Macroglossia, T2 hypointense basal ganglia, Diffuse cerebral atr... ORPHA:79255
Charge Syndrome
Gonadotropin deficiency, Hypothyroidism, Hypogonadotropic hypogonadism, Arrhinencephaly, Delayed ... OMIM:214800
White-Sutton Syndrome
Cerebral atrophy, Thin corpus callosum, Hyperactivity, Microcephaly, Overfriendliness, Hypoplasia... OMIM:616364
Neurodegeneration With Brain Iron Accumulation 2B
Cerebral atrophy, Neurofibrillary tangles, Hyperactivity, Mental deterioration, Lewy bodies OMIM:610217
Hyperekplexia 3
Exaggerated startle response OMIM:614618
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Small pituitary gland, Congenital Horner syndrome, Foot dorsiflexor weakness, Flexion contracture... OMIM:619503
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Decreased fertility, Decreased circulating progesterone, Polycystic ovaries, Elevated circulating... ORPHA:572333
Metachromatic Leukodystrophy, Late Infantile Form
Punctate periventricular T2 hyperintense foci, Abnormal social behavior ORPHA:309256
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3
Central diabetes insipidus, Hypogonadotropic hypogonadism, Absence of Stensen duct, Cryptorchidis... OMIM:604292
Non-Progressive Cerebellar Ataxia With Intellectual Disability
Abnormal cortical gyration, Memory impairment, Abnormal social behavior, Hypoplastic hippocampus,... ORPHA:314647
Hyperekplexia 2
Exaggerated startle response OMIM:614619
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Central diabetes insipidus, Hypogonadotropic hypogonadism, Absence of Stensen duct, Cryptorchidis... OMIM:129900
Lysinuric Protein Intolerance
Cognitive impairment, Failure to thrive, Decreased response to growth hormone stimulation test, P... ORPHA:470
Seckel Syndrome 10
Acute pancreatitis, Severe short stature, Elevated circulating luteinizing hormone level, Microce... OMIM:617253
46,Xx Sex Reversal 1
Azoospermia, Elevated circulating luteinizing hormone level, Elevated circulating follicle stimul... OMIM:400045
Testicular Agenesis
Vanishing testis, Increased circulating gonadotropin level, Absent testis, Decreased serum testos... ORPHA:325124
Niemann-Pick Disease Type C
Cerebral atrophy, Cognitive impairment, Abnormal social behavior, Dementia, Mental deterioration,... ORPHA:646
Hyperekplexia 1
Exaggerated startle response OMIM:149400
Koolen-De Vries Syndrome
Aplasia/Hypoplasia of the corpus callosum, Microcephaly, Overfriendliness ORPHA:96169
Mend Syndrome
Abnormal social behavior, Hyperactivity, Hypoplasia of the corpus callosum ORPHA:401973
Dihydropyrimidine Dehydrogenase Deficiency
Hyperintensity of cerebral white matter on MRI, Microcephaly, Cerebral atrophy, Abnormal social b... ORPHA:1675
Tuberous Sclerosis Complex
Cortical tubers, Abnormal social behavior, Hyperactivity, Pituitary adenoma, Cortical dysplasia, ... ORPHA:805
Alström Syndrome
Hyoplasia of the Leydig cells, Cognitive impairment, Irregular menstruation, Decreased fertility ... ORPHA:64
Luscan-Lumish Syndrome
Shyness OMIM:616831
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Hypothyroidism, Hypoplasia of the corpus callosum, Dystonia, Abnormality of the anterior pituitar... ORPHA:438213
Trichothiodystrophy
Cerebral dysmyelination, Partial agenesis of the corpus callosum, Microcephaly, Cerebral cortical... ORPHA:33364
Orofaciodigital Syndrome V
Microcephaly, Agenesis of corpus callosum, Overfriendliness OMIM:174300
Neuroendocrine Neoplasm Of Appendix
Adrenocorticotropic hormone excess, Intestinal carcinoid, Primary hypercortisolism, Ovarian neopl... ORPHA:100079
Neurodegeneration With Brain Iron Accumulation 1
Eye of the tiger anomaly of globus pallidus, Dementia, Hyperactivity, Mental deterioration, Cereb... OMIM:234200
Axenfeld-Rieger Syndrome, Type 1
Decreased response to growth hormone stimulation test OMIM:180500
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Intrauterine growth retardation, Chordee, Cryptorchidism, Growth delay, Microcephaly, Short statu... OMIM:619522
Williams Syndrome
Abnormality of the diencephalon, Abnormal social behavior, Microcephaly, Cerebral cortical atroph... ORPHA:904
1P21.3 Microdeletion Syndrome
Shyness ORPHA:293948
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome
Dysplastic corpus callosum, Shyness, Anterior pituitary hypoplasia, Hypoplasia of the corpus call... ORPHA:466791

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 Kalrn

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 Kalrn.

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

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