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Gene: Myt1l MGI:1100511

Gene Summary

Name:

myelin transcription factor 1-like

Synonyms:

Nztf1, 2900046C06Rik, C630034G21Rik, 2900093J19Rik, Pmng1, Png-1

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

Phenotype	System	Allele	Zyg	Sex	Life Stage	P Value
increased circulating fructosamine level		Myt1l^{tm1a(EUCOMM)Wtsi}	HOM		Early adult	5.86×10^-05

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DSS Histology

Images

8 Images

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Legacy Phenotype Associated Images

Myt1l^{tm1a(EUCOMM)Wtsi}
head, HOM, Male, WTSI

Myt1l^{tm1a(EUCOMM)Wtsi}
forelimb, HOM, Male, WTSI

Myt1l^{tm1a(EUCOMM)Wtsi}
head, HOM, Male, WTSI

Myt1l^{tm1a(EUCOMM)Wtsi}
body, HOM, Male, WTSI

View all 70 images

Myt1l^{tm1a(EUCOMM)Wtsi}
corneal opacity, HOM, Female, WTSI

Human diseases caused by Myt1l 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.

Human diseases associated with Myt1l (1 diseases)
Human diseases predicted to be associated with Myt1l (750 diseases)

The table below shows human diseases associated to Myt1l by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Intellectual Developmental Disorder, Autosomal Dominant 39		Aggressive behavior, Hydrocephalus, Self-mutilation, Obesity, Cerebral atrophy, Bilateral talipes...	OMIM:616521

The table below shows human diseases predicted to be associated to Myt1l by phenotypic similarity.

Disease	Matching phenotypes	Source
Granulomas, Congenital Cerebral	Neonatal death	OMIM:306300
Genitourinary Tract Anomalies	Neonatal death	OMIM:305690
Autism, Susceptibility To, 20	Attention deficit hyperactivity disorder, Impaired social interactions, Compulsive behaviors	OMIM:618830
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities	Hyperactivity, Ataxia, Aggressive behavior, Tremor, Obesity, Limb dystonia	OMIM:620270
Attention Deficit-Hyperactivity Disorder	Hyperactivity, Attention deficit hyperactivity disorder	OMIM:143465
Intellectual Developmental Disorder, Autosomal Recessive 66	Gait ataxia, Shyness, Attention deficit hyperactivity disorder, Aggressive behavior	OMIM:618221
Potocki-Lupski syndrome (17p11.2 duplication syndrome)	Short attention span, Hyperactivity	DECIPHER:19
Pulmonary Hypoplasia, Primary	Neonatal death	OMIM:265430
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome	Hyperactivity, Large for gestational age, Bruxism, Aggressive behavior	ORPHA:356996
Hernia, Anterior Diaphragmatic	Neonatal death	OMIM:306950
Pandas	Anorexia, Impulsivity, Abnormal fear-induced behavior, Chorea, Depression, Irritability, Tics, At...	ORPHA:66624
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome	Resting tremor, Hyperactivity, Broad-based gait, Anorexia, Aggressive behavior, Tremor, Abnormal ...	ORPHA:3077
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features	Failure to thrive in infancy, Aggressive behavior, Obesity, Self-injurious behavior, Compulsive b...	OMIM:613670
Epidermolysis Bullosa With Diaphragmatic Hernia	Neonatal death	OMIM:226735
Lethal Congenital Contracture Syndrome 3	Neonatal death	OMIM:611369
Intellectual Developmental Disorder, Autosomal Recessive 54	Emotional lability, Exaggerated startle response, Attention deficit hyperactivity disorder	OMIM:617028
Pyknoachondrogenesis	Stillbirth	OMIM:265880
11Q22.2Q22.3 Microdeletion Syndrome	Short attention span, Brachydactyly, Small hand, Obesity, Short foot, Clinodactyly of the 5th fin...	ORPHA:444002
Narcolepsy Type 1	Transient global amnesia, Obesity	ORPHA:2073
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13	Short attention span, Hyperactivity, Broad-based gait, Ataxia, Obesity, Inappropriate laughter, P...	ORPHA:411515
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly	Hyperactivity, Microcephaly, Inability to walk, Cerebral atrophy, Irritability, Abnormal cerebral...	OMIM:616657
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome	Hyperactivity, Abnormal social behavior	ORPHA:436151
Glycosylphosphatidylinositol Biosynthesis Defect 17	Aggressive behavior, Dysplastic corpus callosum, Primary microcephaly, Clinodactyly of the 5th fi...	OMIM:618010
Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type	Emotional lability, Obesity	OMIM:309585
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation	Short attention span, Mild malformation of cortical development, Dysplastic corpus callosum, Abno...	ORPHA:500166
Dystonia 31	Generalized dystonia, Writer's cramp, Leg dystonia, Depression, Arm dystonia, Difficulty walking,...	OMIM:619565
Intellectual Developmental Disorder With Autism And Speech Delay	Inability to walk, Pachygyria, Abnormal repetitive mannerisms, Impaired social interactions	OMIM:606053
Ataxia-Oculomotor Apraxia Type 4	Short attention span, Somatic sensory dysfunction, Ataxia, Obesity, Cognitive impairment, Dystonia	ORPHA:459033
Mitochondrial Complex Iv Deficiency, Nuclear Type 14	Obesity, Cognitive impairment	OMIM:619058
Maturity-Onset Diabetes Of The Young, Type 11	Overweight, Obesity	OMIM:613375
Severe Intellectual Disability-Hypotonia-Strabismus-Coarse Face-Planovalgus Syndrome	Gait disturbance, Obesity	ORPHA:436141
Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures	Obesity, Attention deficit hyperactivity disorder	OMIM:618725
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency	Polyphagia, Obesity, Impaired social interactions, Aggressive behavior	ORPHA:329249
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures	Waddling gait, Broad-based gait, Ataxia, Inability to walk, Obesity, Dystonia	OMIM:616756
Bardet-Biedl Syndrome 5	Obesity, Cognitive impairment	OMIM:615983
Obesity Due To Sim1 Deficiency	Obesity, Cognitive impairment, Attention deficit hyperactivity disorder, Memory impairment, Polyp...	ORPHA:369873
Symphalangism With Multiple Anomalies Of Hands And Feet	Finger syndactyly, Small hypothenar eminence, Toe syndactyly, 2-5 finger cutaneous syndactyly, Ab...	ORPHA:3246
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities	Hyperactivity, Broad-based gait, Microcephaly, Aggressive behavior, Tremor, Hydrocephalus, Elbow ...	OMIM:619470
Juvenile Huntington Disease	Hyperactivity, Broad-based gait, Ataxia, Chorea, Gait ataxia, Depression, Progressive cerebellar ...	ORPHA:248111
Obesity	Increased waist to hip ratio, Obesity	OMIM:601665
Developmental Delay, Behavioral Abnormalities, And Neuropsychiatric Disorders	Overweight, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder	OMIM:620065
Chromosome 15Q11-Q13 Duplication Syndrome	Restrictive behavior, Unsteady gait, Impaired ability to form peer relationships, Impaired social...	OMIM:608636
Gm2 Gangliosidosis, Ab Variant	Exaggerated startle response, Abnormal fear-induced behavior, Chorea, Inappropriate behavior, Cog...	ORPHA:309246
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations	Failure to thrive, Schizencephaly, Hyperactivity, Impulsivity, Microcephaly, Aggressive behavior,...	OMIM:604317
Bilateral Parasagittal Parieto-Occipital Polymicrogyria	Abnormal fear-induced behavior, Pseudobulbar paralysis, Delirium, Aggressive behavior	ORPHA:208441
Spermatogenic Failure, X-Linked, 1	Obesity	OMIM:305700
Cntnap2-Related Developmental And Epileptic Encephalopathy	Hyperactivity, Ataxia, Aggressive behavior, Mental deterioration, Abnormality of neuronal migrati...	ORPHA:163681
Chudley-Mccullough Syndrome	Dysplastic corpus callosum, Hydrocephalus, Partial agenesis of the corpus callosum, Gray matter h...	OMIM:604213
Morm Syndrome	Truncal obesity, Hyperactivity, Aggressive behavior	ORPHA:75858
Intellectual Developmental Disorder, X-Linked 91	Small hand, Obesity, Short foot, Short 5th finger, Cubitus valgus, Clinodactyly	OMIM:300577
Neutropenia, Lethal Congenital, With Eosinophilia	Neonatal death	OMIM:257100
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency	Short attention span, Obesity	ORPHA:171706
Spastic Paraplegia 11, Autosomal Recessive	Ataxia, Impaired distal vibration sensation, Impaired vibration sensation in the lower limbs, Obe...	OMIM:604360
Adiposis Dolorosa	Obesity, Depression	OMIM:103200
Stxbp1-Related Encephalopathy	Hyperactivity, Cerebral white matter atrophy, Ataxia, Tremor, Dysplastic corpus callosum, Inabili...	ORPHA:599373
Hsd10 Disease	Short attention span, Ataxia, Microcephaly, Tremor, Frontotemporal cerebral atrophy, Choreoatheto...	ORPHA:391417
Intellectual Developmental Disorder, X-Linked 107	Hyperactivity, Obesity, Attention deficit hyperactivity disorder, Aggressive behavior	OMIM:301013
Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome	Abnormal thumb morphology, Obesity, Type A brachydactyly, Abnormal metacarpal morphology	ORPHA:1078
Foxg1 Syndrome	Dystonia, Abnormal repetitive mannerisms, Inability to walk, Bruxism, Stereotypical hand wringing...	ORPHA:561854
Triglyceride Storage Disease, Type Ii	Obesity	OMIM:190430
11P15.4 Microduplication Syndrome	Obesity, Aggressive behavior	ORPHA:300305
Microcephaly, Seizures, And Developmental Delay	Hyperactivity, Ataxia, Microcephaly, Simplified gyral pattern, Hypoplasia of the corpus callosum,...	OMIM:613402
Prader-Willi syndrome (Type 1)	Truncal obesity	DECIPHER:14
Prader-Willi Syndrome (Type 2)	Truncal obesity	DECIPHER:53
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive	Dystonia, Single transverse palmar crease, Inability to walk, Self-injurious behavior, Hypoplasia...	OMIM:617820
Childhood Disintegrative Disorder	Social and occupational deterioration, Dementia, Abnormal emotion, Progressive language deteriora...	ORPHA:168782
Body Mass Index Quantitative Trait Locus 20	Polyphagia, Obesity, Tall stature	OMIM:618406
Obesity, Hyperphagia, And Developmental Delay	Abnormal repetitive mannerisms, Polyphagia, Obesity	OMIM:613886
14Q11.2 Microduplication Syndrome	Polyphagia, Obesity, Attention deficit hyperactivity disorder, Aggressive behavior	ORPHA:261229
Bardet-Biedl Syndrome 11	Obesity	OMIM:615988
Obesity And Hypopigmentation	Overgrowth, Polyphagia, Obesity	OMIM:620195
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type	Hyperactivity, Sandal gap, Aggressive behavior, Tremor, Cortical dysplasia, Small hand, Simplifie...	OMIM:300354
Immunodeficiency 61	Obesity, Attention deficit hyperactivity disorder	OMIM:300310
Huntington Disease-Like 1	Restlessness, Abnormal basal ganglia morphology, Weight loss, Depression, Dysmetria, Gait ataxia,...	ORPHA:157941
Intellectual Developmental Disorder, X-Linked 111	Hyperactivity, Reduced cerebral white matter volume, Aggressive behavior, Corpus callosum atrophy...	OMIM:301107
Ataxia-Oculomotor Apraxia 4	Impaired vibratory sensation, Ataxia, Obesity, Cognitive impairment, Dystonia	OMIM:616267
Mehmo Syndrome	Small for gestational age, Aggressive behavior, Inability to walk, Obesity, Gait ataxia, Difficul...	OMIM:300148
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion	Short attention span, Hyperactivity, Broad-based gait, Ataxia, Abnormal eating behavior, Tremor, ...	ORPHA:98794
Hereditary Geniospasm	Abnormal social behavior, Intention tremor	ORPHA:53372
Bardet-Biedl Syndrome 14	Obesity	OMIM:615991
Bardet-Biedl Syndrome 13	Obesity	OMIM:615990
Metaphyseal Chondrodysplasia, Schmid Type	Broad proximal phalanges of the hand, Bowing of the legs, Short tubular bones of the hand, Proxim...	ORPHA:174
Obesity Due To Melanocortin 4 Receptor Deficiency	Polyphagia, Obesity, Childhood-onset truncal obesity	ORPHA:71529
Leptin Receptor Deficiency	Abnormal eating behavior, Aggressive behavior, Obesity, Emotional lability, Polyphagia	OMIM:614963
Intellectual Developmental Disorder, Autosomal Dominant 39	Aggressive behavior, Hydrocephalus, Self-mutilation, Obesity, Cerebral atrophy, Bilateral talipes...	OMIM:616521
Bardet-Biedl Syndrome 22	Polyphagia, Obesity, Large for gestational age	OMIM:617119
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development	Ataxia, Impaired pain sensation, Unsteady gait, Obesity, Distal sensory impairment, Loss of ambul...	OMIM:618124
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy	Ataxia, Microcephaly, Inability to walk, Dysplastic corpus callosum, Dystonia, Failure to thrive	OMIM:618276
Chromosome 3Q29 Deletion Syndrome	Hyperactivity, Small for gestational age, Microcephaly, Aggressive behavior, Tapered finger, Long...	OMIM:609425
Neurodevelopmental Disorder With Microcephaly And Speech Delay, With Or Without Brain Abnormalities	Ataxia, Reduced cerebral white matter volume, Dysplastic corpus callosum, Inability to walk, Unst...	OMIM:620317
Intellectual Developmental Disorder, X-Linked, Syndromic 13	Restlessness, Resting tremor, Dystonia, Ataxia, Tremor, Obesity, Choreoathetosis, Shuffling gait,...	OMIM:300055
Classic Pantothenate Kinase-Associated Neurodegeneration	Generalized dystonia, Inability to walk, Weight loss, Opisthotonus, Tip-toe gait, Gait disturbanc...	ORPHA:216866
Fraxe Intellectual Disability	Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv...	ORPHA:100973
Severe Intellectual Disability And Progressive Spastic Paraplegia	Waddling gait, Dystonia, Shyness, Overweight, Microcephaly, Acetabular dysplasia, Hypoplasia of t...	ORPHA:280763
Bardet-Biedl Syndrome 18	Obesity	OMIM:615995
Chung-Jansen Syndrome	Attention deficit hyperactivity disorder, Obesity, Impulsivity, Aggressive behavior	OMIM:617991
Ck Syndrome	Long toe, Hyperactivity, Microcephaly, Aggressive behavior, Long fingers, Irritability, Abnormal ...	ORPHA:251383
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly	Nail-biting, Hyperactivity, Microcephaly, Aggressive behavior, Self-biting, Self-injurious behavi...	OMIM:619827
Gombo Syndrome	Clinodactyly, Brachydactyly, Radial deviation of finger, Microcephaly	OMIM:233270
Bardet-Biedl Syndrome 16	Obesity, Cognitive impairment	OMIM:615993
Spastic Paraplegia 47, Autosomal Recessive	Waddling gait, Microcephaly, Overweight, Shyness, Inability to walk, Talipes equinovarus, Hypopla...	OMIM:614066
Intellectual Developmental Disorder With Dysmorphic Facies And Behavioral Abnormalities	Short attention span, Hyperactivity, Sandal gap, Microcephaly, Tapered finger, Small hand, Obesit...	OMIM:618089
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers	Obesity, Depression	ORPHA:276630
Glycine Encephalopathy 1	Restlessness, Hyperactivity, Impulsivity, Aggressive behavior, Irritability, Agenesis of corpus c...	OMIM:605899
X-Linked Intellectual Disability-Cerebellar Hypoplasia Syndrome	Caudate atrophy, Ataxia, Temporal cortical atrophy, Impaired social interactions, Attention defic...	ORPHA:137831
Multiple Epiphyseal Dysplasia, Al-Gazali Type	Delayed epiphyseal ossification, Cerebral atrophy, Cutaneous syndactyly, Genu valgum, Hypoplasia ...	ORPHA:166024
Abdominal Obesity-Metabolic Syndrome 1	Abdominal obesity	OMIM:605552
Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2	Abdominal obesity	OMIM:605572
Bardet-Biedl Syndrome 10	Obesity	OMIM:615987
Intellectual Developmental Disorder, Autosomal Recessive 13	Hyperactivity, Truncal obesity, Abnormal cerebral white matter morphology, Secondary microcephaly...	OMIM:613192
Spastic Paraplegia 45, Autosomal Recessive	Talipes equinovarus, Dysplastic corpus callosum, Spastic gait, Hypoplasia of the corpus callosum	OMIM:613162
Clark-Baraitser Syndrome	Hyperactivity, Sandal gap, Aggressive behavior, Microcephaly, Obesity, Clinodactyly	OMIM:617752
Hypoinsulinemic Hypoglycemia With Hemihypertrophy	Truncal obesity, Obesity, Large for gestational age	OMIM:240900
Intellectual Developmental Disorder, X-Linked 97	Obesity	OMIM:300803
Adenocarcinoma Of The Esophagus	Obesity, Clinodactyly of the 5th toe	ORPHA:99976
Angelman Syndrome Due To A Point Mutation	Broad-based gait, Ataxia, Abnormal eating behavior, Tongue thrusting, Obesity, Inappropriate laug...	ORPHA:411511
Brachydactyly, Type A1, B	Type A brachydactyly, Cone-shaped epiphyses of the phalanges of the hand, Short middle phalanx of...	OMIM:607004
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome	Hallux valgus, Hyperactivity, Cone-shaped epiphyses of the 3rd toe, Obesity, Cone-shaped epiphyse...	ORPHA:397973
X-Linked Intellectual Disability, Hedera Type	Inability to walk, Unsteady gait, Obesity, Dysmetria, Gait disturbance, Action tremor	ORPHA:93952
Simpson-Golabi-Behmel Syndrome, Type 2	Postaxial hand polydactyly, Broad thumb, Obesity, Short finger	OMIM:300209
Syndromic X-Linked Intellectual Disability 7	Obesity	ORPHA:85274
Female Restricted Epilepsy With Intellectual Disability	Hyperactivity, Impulsivity, Aggressive behavior, Abnormal eating behavior, Compulsive behaviors, ...	ORPHA:101039
Mohr-Tranebjaerg Syndrome	Tremor, Dysphagia, Intrinsic hand muscle atrophy, Dystonia, Mental deterioration, Abnormal posturing	OMIM:304700
Imagawa-Matsumoto Syndrome	Birth length greater than 97th percentile, Large hands, Overgrowth, Camptodactyly, Clinodactyly, ...	OMIM:618786
Schaaf-Yang Syndrome	Failure to thrive in infancy, Rocker bottom foot, Impulsivity, Tapered finger, Inability to walk,...	OMIM:615547
Obesity Due To Prohormone Convertase I Deficiency	Failure to thrive, Polyphagia, Obesity, Childhood-onset truncal obesity	ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency	Failure to thrive, Polyphagia, Obesity, Childhood-onset truncal obesity	ORPHA:71526
Early-Onset Autosomal Dominant Alzheimer Disease	Ataxia, Confusion, Dementia, Agitation, Disinhibition, Semantic dementia, Memory impairment, Abno...	ORPHA:1020
Autism, Susceptibility To, X-Linked 6	Obesity	OMIM:300872
Arthrogryposis, Distal, Type 2B2	Ulnar deviation of the wrist, Broad hallux, Sandal gap, Tapered finger, Metatarsus adductus, Shor...	OMIM:618435
Ck Syndrome	Hyperactivity, Microcephaly, Aggressive behavior, Abnormal digit morphology, Irritability, Pachyg...	OMIM:300831
Leptin Deficiency Or Dysfunction	Polyphagia, Obesity	OMIM:614962
Mehmo Syndrome	Tapered finger, Microcephaly, Obesity, Agitation, Talipes equinovarus	ORPHA:85282
Borjeson-Forssman-Lehmann Syndrome	Shortening of all middle phalanges of the fingers, Tapered finger, Microcephaly, Short toe, Obesi...	OMIM:301900
48,Xxyy Syndrome	Ataxia, Tremor, Elbow dislocation, Obesity, Depression, Abnormal shoulder morphology, Radioulnar ...	ORPHA:10
Chromosome 2Q37 Deletion Syndrome	Hyperactivity, Pain insensitivity, Aggressive behavior, Obesity, Self-injurious behavior, Skin-pi...	OMIM:600430
Bardet-Biedl Syndrome 7	Postaxial polydactyly, Obesity, 2-3 toe syndactyly, Polydactyly, Clinodactyly	OMIM:615984
Intellectual Developmental Disorder, X-Linked 12	Increased body mass index, Small for gestational age, Microcephaly, Tremor, Abnormality of neuron...	OMIM:300957
Coenzyme Q10 Deficiency, Primary, 2	Overweight, Bulimia, Obesity	OMIM:614651
Combined Oxidative Phosphorylation Deficiency 54	Tremor, Dysplastic corpus callosum, Obesity, Secondary microcephaly, Periventricular white matter...	OMIM:619737
Gand Syndrome	Long toe, Hyperactivity, Long fingers, Tics, Inappropriate laughter	OMIM:615074
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome	Waddling gait, Cerebral white matter atrophy, Dystonia, Ataxia, Microcephaly, Unsteady gait, Hip ...	ORPHA:464282
Desbuquois Dysplasia 1	Triangular shaped phalanges of the hand, Metaphyseal widening, Short metatarsal, Coxa vara, Genu ...	OMIM:251450
Atypical Rett Syndrome	Restrictive behavior, Dystonia, Tremor, Inability to walk, Tongue thrusting, Small hand, Gait ata...	ORPHA:3095
Intellectual Developmental Disorder, X-Linked 101	Clinodactyly, Hyperactivity	OMIM:300928
Baralle-Macken Syndrome	Inability to walk, Obesity, Dystonia	OMIM:619255
48,Xxxy Syndrome	Down-sloping shoulders, Coxa valga, Tremor, Elbow dislocation, Hip dislocation, Obesity, Irritabi...	ORPHA:96263
Summitt Syndrome	Finger syndactyly, Camptodactyly of finger, Obesity, Genu valgum, Short palm, Clinodactyly of the...	ORPHA:3210
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation	Small hand, Obesity, Short foot, Impaired social interactions, Clinodactyly	ORPHA:254531
Summitt Syndrome	Obesity	OMIM:272350
Thanatophoric Dysplasia, Glasgow Variant	Neonatal death	OMIM:273680
Temple Syndrome	Small for gestational age, Hydrocephalus, Small hand, Obesity, Short foot, Clinodactyly of the 5t...	ORPHA:254516
Encephalopathy, Progressive, With Or Without Lipodystrophy	Hyperactivity, Ataxia, Tremor, Cerebral atrophy, Dystonia, Mental deterioration	OMIM:615924
Coronary Artery Disease, Autosomal Dominant, 1	Obesity	OMIM:608320
Radio-Tartaglia Syndrome	Ataxia, Impulsivity, Microcephaly, Aggressive behavior, Tremor, Tapered finger, Obesity, Gray mat...	OMIM:619312
Microtriplication 11Q24.1	Microcephaly, Metatarsus adductus, Small hand, Obesity, Genu valgum, Short foot, Talipes equinova...	ORPHA:289522
Intellectual Disability-Obesity-Brain Malformations-Facial Dysmorphism Syndrome	Microcephaly, Tapered finger, Obesity, Multifocal cerebral white matter abnormalities, Hypoplasia...	ORPHA:352530
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia	Hyperactivity, Microcephaly, Tremor, Inability to walk, Self-injurious behavior, Bruxism, Abnorma...	OMIM:618718
6Q16 Microdeletion Syndrome	Broad-based gait, Polyphagia, Obesity, Abnormal temper tantrums	ORPHA:171829
X-Linked Intellectual Disability-Global Development Delay-Facial Dysmorphism-Sacral Caudal Remnant Syndrome	Oral-pharyngeal dysphagia, Tremor, Microcephaly, Prominent protruding coccyx, Obesity, Hypoplasia...	ORPHA:480907
Morgagni-Stewart-Morel Syndrome	Obesity, Depression, Cognitive impairment, Memory impairment, Action tremor	ORPHA:77296
Marbach-Schaaf Neurodevelopmental Syndrome	Torticollis, Hemidystonia, Aggressive behavior, Tremor, Obesity, Attention deficit hyperactivity ...	OMIM:619680
Bardet-Biedl Syndrome 9	Syndactyly, Postaxial polydactyly, Postaxial hand polydactyly, Obesity, Postaxial foot polydactyl...	OMIM:615986
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome	Tremor, Agitation, Increased body weight, Progressive neurologic deterioration	ORPHA:276608
Wagro Syndrome	Aggressive behavior, Obesity, Agitation, Low frustration tolerance, Compulsive behaviors, Impaire...	OMIM:612469
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities	Hyperactivity, Ataxia, Aggressive behavior, Obesity, Compulsive behaviors, Abnormal repetitive ma...	OMIM:618430
X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome	Obesity	ORPHA:3055
Wahab Syndrome	Syndactyly, Short metacarpal, Short thumb, Short foot, Short palm, Clinodactyly, Camptodactyly, A...	OMIM:615170
Hernández-Aguirre Negrete Syndrome	Obesity	ORPHA:2139
Cubitus Valgus With Impaired Intellectual Development And Unusual Facies	Cubitus valgus, Truncal obesity, Microcephaly	OMIM:300471
Lamb-Shaffer Syndrome	Hyperactivity, Ataxia, Microcephaly, Hip dysplasia, Abnormal temper tantrums, Abnormal social beh...	ORPHA:530983
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities	Ataxia, Microcephaly, Inability to walk, Perisylvian polymicrogyria, Unsteady gait, Obesity, Cere...	OMIM:618443
Laurence-Moon Syndrome	Ataxia, Obesity	OMIM:245800
Prader-Willi Syndrome Due To Imprinting Mutation	Narrow palm, Obesity, Small hand, Short foot, Abnormal ulnar metaphysis morphology, Polyphagia	ORPHA:177910
Rafiq Syndrome	Truncal obesity, Ataxia, Obesity, Aggressive behavior	OMIM:614202
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation	Partial agenesis of the corpus callosum, Delayed early-childhood social milestone development, Si...	ORPHA:300570
Phip-Related Behavioral Problems-Intellectual Disability-Obesity-Dysmorphic Features Syndrome	Impulsivity, Increased body weight, Hand tremor, Gait disturbance, Attention deficit hyperactivit...	ORPHA:589905
Angelman Syndrome	Hyperactivity, Broad-based gait, Ataxia, Limb tremor, Obesity, Progressive gait ataxia, Paroxysma...	OMIM:105830
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type	Hyperactivity, Impulsivity, Periventricular white matter hyperintensities, Attention deficit hype...	OMIM:301008
Congenital-Onset Steinert Myotonic Dystrophy	Bradyphrenia, Short attention span, Hyperactivity, Obesity, Dysphagia, Decreased body weight	ORPHA:589821
Proximal 16P11.2 Microdeletion Syndrome	Obesity, Choreoathetosis, Attention deficit hyperactivity disorder, Dystonia, Impaired social int...	ORPHA:261197
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities	Severe temper tantrums, Obesity, Stereotypical hand wringing	OMIM:619854
Intellectual Developmental Disorder, Autosomal Dominant 7	Hallux valgus, Hyperactivity, Small for gestational age, Failure to thrive in infancy, Ataxia, Mi...	OMIM:614104
2Q23.1 Microdeletion Syndrome	Hyperactivity, Ataxia, Sandal gap, Microcephaly, Polyphagia, Self-injurious behavior, Hip dysplas...	ORPHA:228402
Xq27.3Q28 Duplication Syndrome	Short foot, Truncal obesity, Failure to thrive, Small hand	ORPHA:261483
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities	Short attention span, Exaggerated startle response, Inability to walk, Chorea, Irritability, Fail...	OMIM:617864
Stiff Person Spectrum Disorder	Emotional lability, Exaggerated startle response, Falls, Difficulty walking	ORPHA:3198
Phenylketonuria	Hyperactivity, Cerebral calcification, Microcephaly, Aggressive behavior, Depression, Irritabilit...	OMIM:261600
Short Stature Due To Primary Acid-Labile Subunit Deficiency	Truncal obesity	ORPHA:140941
Lamb-Shaffer Syndrome	Long fingers, Clinodactyly, Overlapping toe, Long hallux	OMIM:616803
X-Linked Intellectual Disability, Cabezas Type	Hyperactivity, Broad-based gait, Toe syndactyly, Sandal gap, Cachexia, Aggressive behavior, Micro...	ORPHA:85293
Acrodysostosis 2 With Or Without Hormone Resistance	Short metacarpal, Hyperactivity, Short metatarsal, Obesity, Advanced ossification of carpal bones...	OMIM:614613
Dystonia 1, Torsion, Autosomal Dominant	Torticollis, Generalized dystonia, Writer's cramp, Tremor, Inability to walk, Torsion dystonia, D...	OMIM:128100
Usmani-Riazuddin Syndrome, Autosomal Dominant	Hyperactivity, Aggressive behavior, 2-3 toe syndactyly, Depression, Self-injurious behavior, Comp...	OMIM:619467
Mitochondrial Complex Iii Deficiency, Nuclear Type 2	Resting tremor, Dystonia, Ataxia, Aggressive behavior, Tremor, Gait apraxia, Cerebral atrophy, Dy...	OMIM:615157
Idiopathic Intracranial Hypertension	Abnormal emotion, Obesity, Depression	ORPHA:238624
Neurodevelopmental Disorder With Speech Impairment And Dysmorphic Facies	Short attention span, Obesity, Aggressive behavior	OMIM:619056
Muenke Syndrome	Broad hallux, Capitate-hamate fusion, Cone-shaped epiphyses of the phalanges of the hand, Short m...	OMIM:602849
Laurence-Moon Syndrome	Finger syndactyly, Ataxia, Bilateral single transverse palmar creases, Obesity, Hand polydactyly,...	ORPHA:2377
Impaired Intellectual Development, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome	Truncal obesity, Childhood-onset truncal obesity	OMIM:610156
Intellectual Developmental Disorder, Autosomal Dominant 56	Bradyphrenia, Short attention span, Broad-based gait, Dystonia, Ataxia, Impulsivity, Inability to...	OMIM:617854
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome	Truncal obesity, Gait disturbance	ORPHA:2429
Bardet-Biedl Syndrome 4	Syndactyly, Polydactyly, Obesity, Brachydactyly	OMIM:615982
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome	Camptodactyly of finger, Micromelia, Ulnar deviation of finger, Truncal obesity, Abnormal pelvic ...	ORPHA:2928
Autosomal Recessive Spastic Paraplegia Type 11	Short attention span, Ataxia, Overweight, Inability to walk, Obesity, Memory impairment, Dementia...	ORPHA:2822
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency	Short attention span, Hyperactivity, Small for gestational age, Single transverse palmar crease, ...	ORPHA:73272
Leukodystrophy, Hypomyelinating, 13	Irritability, Exaggerated startle response, Failure to thrive, Ataxia	OMIM:616881
13Q12.3 Microdeletion Syndrome	Hyperactivity, Impaired pain sensation, Obesity, Failure to thrive, Self-mutilation	ORPHA:412035
Zimmermann-Laband Syndrome 3	Aplasia of the distal phalanx of the 5th toe, Absent distal phalanx of the 2nd toe, Absent distal...	OMIM:618658
Cortisone Reductase Deficiency 2	Obesity	OMIM:614662
Bardet-Biedl Syndrome 19	Mesoaxial hand polydactyly, Postaxial polydactyly, Obesity, Postaxial foot polydactyly, Hypoplasi...	OMIM:615996
Temple Syndrome	Small for gestational age, Overweight, Hydrocephalus, Small hand, Obesity, Short foot, Truncal ob...	OMIM:616222
Wilson-Turner Syndrome	Emotional lability, Truncal obesity	ORPHA:3459
Distal 16P11.2 Microdeletion Syndrome	Obesity, Attention deficit hyperactivity disorder	ORPHA:261222
Rhizomelic Limb Shortening With Dysmorphic Features	Hyperextensibility of the finger joints, Rhizomelia, Single transverse palmar crease, Short thumb...	OMIM:618821
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome	Bowing of the long bones, Toe syndactyly, Hydrocephalus, Obesity, Cerebral atrophy, Abnormal sept...	ORPHA:171839
Angelman Syndrome	Hyperactivity, Broad-based gait, Ataxia, Cerebral dysmyelination, Microcephaly, Aggressive behavi...	ORPHA:72
Perrault Syndrome 4	Disproportionate tall stature, Obesity, Cognitive impairment, Gait ataxia	OMIM:615300
Chromosome 15Q11.2 Deletion Syndrome	Swan neck-like deformities of the fingers, Ataxia, Single transverse palmar crease, Arachnodactyl...	OMIM:615656
Luscan-Lumish Syndrome	Shyness, Aggressive behavior, Obesity, Overgrowth, Polyphagia	OMIM:616831
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities	Syndactyly, Ataxia, Arachnodactyly, Microcephaly, Tremor, Gait ataxia, Clinodactyly, Abnormal rep...	OMIM:619092
Hiatt-Neu-Cooper Neurodevelopmental Syndrome	Clinodactyly, 2-3 toe syndactyly	OMIM:619311
2Q37 Microdeletion Syndrome	Short palm, Finger syndactyly, Short metacarpal, Toe syndactyly, Brachydactyly, Microcephaly, Sma...	ORPHA:1001
Smith-Magenis Syndrome	Toe syndactyly, Failure to thrive in infancy, Microcephaly, Obesity, Aplasia/Hypoplasia of the co...	ORPHA:819
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder	Hyperactivity, Dystonia, Impulsivity, Microcephaly, Aggressive behavior, Inability to walk, Cereb...	ORPHA:500180
Carpenter Syndrome	Syndactyly, Finger syndactyly, Toe syndactyly, Postaxial hand polydactyly, Obesity, Genu valgum, ...	ORPHA:65759
Neurodevelopmental Disorder With Microcephaly, Impaired Language, And Gait Abnormalities	Syndactyly, Microcephaly, Hypoplasia of the corpus callosum, Cerebral white matter hypoplasia, Cl...	OMIM:619091
White-Sutton Syndrome	Waddling gait, Hyperactivity, Brachydactyly, Microcephaly, Aggressive behavior, Obesity, Cerebral...	OMIM:616364
Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities	Short attention span, Hyperactivity, Aggressive behavior, Dysphoria, 2-3 toe cutaneous syndactyly...	OMIM:620242
Biemond Syndrome Type 2	Hydrocephalus, Preaxial polydactyly, Obesity	ORPHA:141333
Carpenter Syndrome 1	Duplication of the proximal phalanx of the hallux, Clinodactyly of the 5th finger, Spina bifida o...	OMIM:201000
Cln5 Disease	Hyperactivity, Ataxia, Aggressive behavior, Corpus callosum atrophy, Inability to walk, Tremor, U...	ORPHA:228360
19P13.12 Microdeletion Syndrome	Finger syndactyly, Hyperactivity, Toe clinodactyly, Sandal gap, Microcephaly, Obesity, Self-injur...	ORPHA:254346
Aromatic L-Amino Acid Decarboxylase Deficiency	Torticollis, Exaggerated startle response, Oculogyric crisis, Tongue thrusting, Limb tremor, Chor...	OMIM:608643
Acth-Independent Macronodular Adrenal Hyperplasia	Depression, Truncal obesity, Agitation, Mental deterioration, Emotional lability	OMIM:219080
X-Linked Intellectual Disability, Van Esch Type	Microcephaly, Attention deficit hyperactivity disorder, Impaired social interactions, Clinodactyl...	ORPHA:163976
Pontocerebellar Hypoplasia Type 2	Paroxysmal dystonia, Abnormal cortical gyration, Oral-pharyngeal dysphagia, Dysplastic corpus cal...	ORPHA:2524
X-Linked Intellectual Disability-Cubitus Valgus-Dysmorphism Syndrome	Tapered finger, Microcephaly, Truncal obesity, Cubitus valgus, Bilateral single transverse palmar...	ORPHA:85280
Split-Hand/Foot Malformation 1	Syndactyly, Broad hallux, Split hand, Hand oligodactyly, Split foot, Foot oligodactyly, Ectrodact...	OMIM:183600
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome	Short attention span, Single transverse palmar crease, Overweight, Repetitive compulsive behavior...	ORPHA:391372
Hypomelanosis Of Ito	Syndactyly, Microcephaly, Cerebral atrophy, Gray matter heterotopia, Hand polydactyly, Radial dev...	OMIM:300337
Pigmented Nodular Adrenocortical Disease, Primary, 2	Depression, Truncal obesity, Agitation, Mental deterioration, Emotional lability	OMIM:610475
Boudin-Mortier Syndrome	Long toe, Mallet finger, Arachnodactyly, Long fingers, Pseudoepiphyses of the proximal phalanges ...	OMIM:619543
Bardet-Biedl Syndrome 17	Mesoaxial polydactyly, Short fourth metatarsal, Mesoaxial hand polydactyly, Postaxial hand polyda...	OMIM:615994
Temple Syndrome Due To Paternal 14Q32.2 Microdeletion	Acromicria, Small hand, Obesity, Short foot, Clinodactyly	ORPHA:254525
Chromosome Xq13 Duplication Syndrome	Hyperactivity, Aggressive behavior, Metatarsus adductus, Hip dysplasia, Diminished ability to con...	OMIM:301069
Prader-Willi Syndrome Due To Translocation	Overlapping toe, Microcephaly, Clinodactyly, Small hand, Obesity, Head-banging, Short foot, Later...	ORPHA:177907
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome	Hyperextensibility of the finger joints, Metatarsus adductus, Short toe, Unsteady gait, 4-5 toe s...	ORPHA:3041
15Q24 Microdeletion Syndrome	Small for gestational age, Proximal placement of thumb, Microcephaly, Abnormal thumb morphology, ...	ORPHA:94065
Ankylosing Vertebral Hyperostosis With Tylosis	Obesity	ORPHA:2206
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis	Hip contracture, Coxa valga, Obesity, Flattened epiphysis, Advanced ossification of carpal bones,...	OMIM:618363
Myoclonic-Astatic Epilepsy	Syndactyly, Hyperactivity, Ataxia, Microcephaly, Tremor, Unsteady gait, Abnormal emotion, Impaire...	ORPHA:1942
Lissencephaly Due To Tuba1A Mutation	Agyria, Microcephaly, Hypoplastic anterior limbs of the internal capsule, Dysplastic corpus callo...	ORPHA:171680
Adiposis Dolorosa	Memory impairment, Paresthesia, Obesity, Depression	ORPHA:36397
Periventricular Nodular Heterotopia 1	Syndactyly, Abnormality of neuronal migration, Gray matter heterotopia, Hypoplasia of the corpus ...	OMIM:300049
Fg Syndrome Type 1	Finger syndactyly, Broad-based gait, Limited elbow extension and supination, Broad toe, Single tr...	ORPHA:93932
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type	Disproportionate tall stature, Abdominal obesity, Attention deficit hyperactivity disorder, Aggre...	OMIM:301039
Man1B1-Cdg	Resting tremor, Broad-based gait, Periventricular heterotopia, 2-3 toe syndactyly, Truncal obesit...	ORPHA:397941
Trisomy 5P	Obesity, Abnormal metacarpal morphology	ORPHA:1742
Microduplication Xp11.22P11.23 Syndrome	Obesity	ORPHA:217377
Pitt-Hopkins-Like Syndrome 1	Hyperactivity, Ataxia, Aggressive behavior, Cortical dysplasia, Progressive language deterioratio...	OMIM:610042
Frontonasal Dysplasia 1	Pericallosal lipoma, Postaxial hand polydactyly, Anterior basal encephalocele, Pectoral muscle hy...	OMIM:136760
Hydrocephalus-Obesity-Hypogonadism Syndrome	Cubitus valgus, Hydrocephalus, Short 4th metacarpal, Obesity	ORPHA:2183
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skin Abnormalities	Pica, Obesity, Ataxia, Aggressive behavior	OMIM:620191
Morbid Obesity And Spermatogenic Failure	Obesity	OMIM:615703
Intellectual Developmental Disorder, Autosomal Recessive 38	Hyperactivity, Sandal gap, Aggressive behavior, Unsteady gait, Diminished ability to concentrate,...	OMIM:615516
Pseudopseudohypoparathyroidism	Obesity, Cognitive impairment	OMIM:612463
Xp22.13P22.2 Duplication Syndrome	Tapered finger, Microcephaly, Small hand, 2-3 toe syndactyly, Truncal obesity, Attention deficit ...	ORPHA:284180
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency	Restlessness, Hyperactivity, Syndactyly, Ataxia, Abnormality of the hand, Aggressive behavior, Ag...	ORPHA:369891
Body Mass Index Quantitative Trait Locus 19	Polyphagia, Obesity	OMIM:617885
Nephronophthisis 15	Obesity	OMIM:614845
Kdm5C-Related Syndromic X-Linked Intellectual Disability	Camptodactyly of finger, Tapered finger, Aggressive behavior, Microcephaly, Talipes equinovarus, ...	ORPHA:85279
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type	Hyperextensibility of the finger joints, Hyperactivity, Arachnodactyly, Aggressive behavior, Disp...	OMIM:309520
Urban-Rogers-Meyer Syndrome	Toe syndactyly, Camptodactyly of finger, Obesity, Short foot, Abnormal diaphysis morphology, Abno...	ORPHA:3409
Congenital Myopathy 9A	Obesity, Akinesia	OMIM:618822
Den Hoed-De Boer-Voisin Syndrome	Short attention span, Ataxia, Sandal gap, Microcephaly, Overweight, Inability to walk, Tremor, Sm...	OMIM:619229
Coffin-Siris Syndrome 6	Tics, Attention deficit hyperactivity disorder, Clinodactyly, Periventricular leukomalacia, Abnor...	OMIM:617808
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum	Aggressive behavior, Tapered finger, Partial agenesis of the corpus callosum, Obesity, Overgrowth...	OMIM:620250
Spastic Paraplegia 20, Autosomal Recessive	Ulnar deviation of the hand, Dysmetria, Short foot, Hammertoe, Difficulty walking, Dysphagia, Emo...	OMIM:275900
Prieto Syndrome	Coxa valga, Cerebral atrophy, Talipes equinovarus, Radial deviation of finger, Clinodactyly	OMIM:309610
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly	Congenital hip dislocation, Abnormal finger flexion crease, Aplasia/Hypoplasia of the 5th finger,...	OMIM:228930
Moebius Syndrome	Syndactyly, Brachydactyly, Split hand, Dysdiadochokinesis, Abnormal pelvic girdle bone morphology...	OMIM:157900
Congenital Disorder Of Glycosylation, Type Iy	Clinodactyly, Failure to thrive, Hypoplasia of the corpus callosum, Microcephaly	OMIM:300934
Aminopterin Syndrome Sine Aminopterin	Syndactyly, Rudimentary postaxial polydactyly of hands, Arachnodactyly, Megalencephaly, Microceph...	OMIM:600325
Achondroplasia	Rhizomelia, Hip joint hypermobility, Bowing of the legs, Short proximal phalanx of finger, Hydroc...	ORPHA:15
Growth Delay Due To Insulin-Like Growth Factor I Resistance	Short palm, Clinodactyly, Microcephaly	ORPHA:73273
49,Xxxxy Syndrome	Down-sloping shoulders, Shyness, Tremor, Elbow dislocation, Coxa valga, Hip dislocation, Irritabi...	ORPHA:96264
Cornelia De Lange Syndrome 5	Toe syndactyly, Proximal placement of thumb, Microcephaly, Small hand, Short foot, Truncal obesit...	OMIM:300882
Cornelia De Lange Syndrome 2	Limited elbow movement, Proximal placement of thumb, Microcephaly, Small hand, Short foot, Cognit...	OMIM:300590
Impaired Intellectual Development, Obesity, Mandibular Prognathism, And Eye And Skin Anomalies	Hallux valgus, Cone-shaped epiphysis, Obesity	OMIM:606772
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome	Obesity	ORPHA:88643
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency	Hyperactivity, Ataxia, Aggressive behavior, Microcephaly, Tremor, Choreoathetosis, Dystonia	OMIM:612716
Developmental Delay, Language Impairment, And Ocular Abnormalities	Hyperactivity, Impulsivity, Aggressive behavior, Microcephaly, Myelomeningocele, Contracture of t...	OMIM:620141
Sporadic Infantile Bilateral Striatal Necrosis	Resting tremor, Short attention span, Dystonia, Gait ataxia, Titubation, Gait disturbance, Dyspha...	ORPHA:225147
Porphyria Due To Ala Dehydratase Deficiency	Restlessness, Confusion, Abnormal fear-induced behavior, Depression, Agitation, Difficulty walkin...	ORPHA:100924
Shox-Related Short Stature	Madelung deformity, Obesity, Tibial bowing, Short foot, Genu valgum, Forearm undergrowth, Lower l...	ORPHA:314795
47,Xyy Syndrome	Hyperactivity, Impulsivity, Hydrocephalus, Finger clinodactyly, Impaired social interactions, Att...	ORPHA:8
Terminal Osseous Dysplasia	Syndactyly, Camptodactyly of finger, Abnormal hand bone ossification, Short toe, Mesomelic arm sh...	OMIM:300244
Ring Chromosome 21 Syndrome	Syndactyly, Microcephaly, Small hand, Narrow palm, Gait disturbance, Holoprosencephaly, Clinodactyly	ORPHA:1445
Heart-Hand Syndrome, Slovenian Type	Syndactyly, Clinodactyly, Brachydactyly, Aplasia of the middle phalanx of the hand	OMIM:610140
Metachromatic Leukodystrophy, Adult Form	Short attention span, Chorea, Progressive psychomotor deterioration, Depression, Memory impairmen...	ORPHA:309271
Tarsal-Carpal Coalition Syndrome	Tarsal synostosis, Humeroradial synostosis, Progressive fusion 2nd-5th pip joints, Short finger, ...	OMIM:186570
Adnp Syndrome	Single transverse palmar crease, Oral-pharyngeal dysphagia, Abnormal finger morphology, Compulsiv...	ORPHA:404448
Thyroid Hormone Resistance, Generalized, Autosomal Recessive	Small for gestational age, Increased body weight, Attention deficit hyperactivity disorder	OMIM:274300
Chromosome Xq21 Deletion Syndrome	Obesity	OMIM:303110
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome	Short fourth metatarsal, Microcephaly, Thick corpus callosum, Obesity, Patellar hypoplasia, Hypop...	ORPHA:464288
Distal Xq28 Microduplication Syndrome	Impulsivity, Microcephaly, Aggressive behavior, Metatarsus adductus, Self-biting, Depression, Ste...	ORPHA:293939
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures	Inability to walk, Exaggerated startle response, Depression	OMIM:620114
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies	Ulnar deviation of the wrist, Hydrocephalus, Hypoplasia of the corpus callosum, Clinodactyly, Age...	OMIM:618577
Mucolipidosis Iv	Progressive neurologic deterioration, Cerebral dysmyelination, Microcephaly, Dysplastic corpus ca...	OMIM:252650
Symptomatic Form Of Fragile X Syndrome In Female Carriers	Short attention span, Hyperactivity, Shyness, Aggressive behavior, Depression, Irritability, Self...	ORPHA:449291
Keipert Syndrome	Broad hallux, Broad distal phalanx of finger, Camptodactyly, Clinodactyly, Broad thumb, Brachydac...	OMIM:301026
Infantile Neuroaxonal Dystrophy	Psychomotor deterioration, Short attention span, Hyperactivity, Dystonia, Ataxia, Impulsivity, Un...	ORPHA:35069
19P13.3 Microduplication Syndrome	Hyperactivity, Microcephaly, Long fingers, Hip dislocation, Cerebral atrophy, Self-injurious beha...	ORPHA:447980
Congenital Disorder Of Deglycosylation 2	Ulnar deviation of the hand, Sandal gap, Partial agenesis of the corpus callosum, Gray matter het...	OMIM:619775
Spastic Paraplegia-Intellectual Disability-Nystagmus-Obesity Syndrome	Obesity	ORPHA:521390
Beta-Mercaptolactate Cysteine Disulfiduria	Sandal gap, Arachnodactyly, Micromelia, Obesity, Genu valgum	ORPHA:1035
1P21.3 Microdeletion Syndrome	Abnormal eating behavior, Aggressive behavior, Shyness, Obesity, Self-injurious behavior, Self-mu...	ORPHA:293948
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Hydrocephalus, Postaxial hand polydactyly, Obesity, Cone-shaped epiphyses of the phalanges of the...	OMIM:615630
Parkinsonism-Dystonia 3, Childhood-Onset	Dystonia, Ataxia, Aggressive behavior, Tremor, Depression, Impaired social interactions, Dysphagi...	OMIM:619738
Pde4D Haploinsufficiency Syndrome	Short metacarpal, Broad hallux, Short toe, Short metatarsal, Obesity, Upper limb undergrowth, Con...	ORPHA:439822
Insulinoma	Tremor, Increased body weight, Transient global amnesia, Paresthesia, Abnormality of pain sensati...	ORPHA:97279
Young-Onset Parkinson Disease	Restless legs, Short attention span, Impulsivity, Tremor, Depression, Frontal lobe dementia, Deme...	ORPHA:2828
Cortisone Reductase Deficiency 1	Obesity	OMIM:604931
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome	Multifocal hyperintensity of cerebral white matter on MRI, Failure to thrive in infancy, Aggressi...	ORPHA:488627
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Single transverse palmar crease, Tics, Compulsive behaviors, Abnormal repetitive mannerisms, Inte...	OMIM:619475
Pigmented Nodular Adrenocortical Disease, Primary, 1	Depression, Truncal obesity, Agitation, Mental deterioration, Emotional lability	OMIM:610489
Crisponi/Cold-Induced Sweating Syndrome 2	Cubitus valgus, Clinodactyly, Limited elbow extension, 2-3 toe syndactyly	OMIM:610313
Clark-Baraitser syndrome	Tapered finger, Broad palm, Obesity, Genu valgum, Short palm, Tall stature	OMIM:300602
Obesity Due To Leptin Receptor Gene Deficiency	Emotional lability, Polyphagia, Obesity	ORPHA:179494
Cortical Dysplasia, Complex, With Other Brain Malformations 12	Dysgenesis of the basal ganglia, Lissencephaly, Clinodactyly, Pachygyria, Agenesis of corpus call...	OMIM:620316
Mend Syndrome	Hyperactivity, Broad hallux, Overlapping toe, Aggressive behavior, Long fingers, Hydrocephalus, 2...	ORPHA:401973
Combined Oxidative Phosphorylation Deficiency 15	Ataxia, Progressive neurologic deterioration, Tremor, Unsteady gait, Obesity, Cognitive impairment	OMIM:614947
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome	Abnormal metacarpal morphology, Obesity, Abnormal morphology of ulna	ORPHA:2233
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly	Short long bone, Obesity, Postaxial polydactyly, Brachydactyly	OMIM:615633
Insulin-Like Growth Factor I, Resistance To	Sandal gap, Microcephaly, Small hand, Short foot, Truncal obesity, Agitation, Hypoplasia of the c...	OMIM:270450
Chromosome 16P13.3 Deletion Syndrome, Proximal	Broad hallux, Microcephaly, Obesity, Clinodactyly of the 5th finger, Failure to thrive, Broad thumb	OMIM:610543
Childhood Absence Epilepsy	Abnormal social behavior, Punding, Attention deficit hyperactivity disorder, Depression	ORPHA:64280
Retinal Dystrophy And Obesity	Obesity	OMIM:616188
Distal Deletion 10Q	Single transverse palmar crease, 2-3 toe cutaneous syndactyly, Short metatarsal, Clinodactyly of ...	ORPHA:96148
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome	Hyperactivity, Microcephaly, Aggressive behavior, 2-3 toe syndactyly, Irritability, Abnormal cere...	ORPHA:391307
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness	Metaphyseal dysplasia, Brachydactyly, Irregular iliac crest, Metaphyseal widening, Flat glenoid f...	OMIM:250420
Bardet-Biedl Syndrome 2	Postaxial foot polydactyly, Postaxial hand polydactyly, Obesity	OMIM:615981
Al-Gazali-Bakalinova Syndrome	Epiphyseal dysplasia, Tapered finger, Flattened epiphysis, Genu valgum, Polydactyly, Hypoplasia o...	OMIM:607131
Polymicrogyria With Optic Nerve Hypoplasia	Dysplastic corpus callosum, Colpocephaly, Polymicrogyria, Agenesis of corpus callosum	ORPHA:250972
Pseudohypoparathyroidism Type 1C	Short metacarpal, Cerebral calcification, Short fifth metatarsal, Confusion, Basal ganglia calcif...	ORPHA:79444
Bardet-Biedl Syndrome 21	Overweight, Obesity	OMIM:617406
Metachromatic Leukodystrophy, Juvenile Form	Short attention span, Progressive psychomotor deterioration, Progressive gait ataxia, Dystonia, E...	ORPHA:309263
7Q11.23 Microduplication Syndrome	Collectionism, Hyperactivity, Single transverse palmar crease, Aggressive behavior, Long fingers,...	ORPHA:96121
Paternal Uniparental Disomy Of Chromosome 1	Progressive psychomotor deterioration, Pain insensitivity, Polyphagia, Obesity	ORPHA:251004
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome	Tapered toe, Large for gestational age, Aggressive behavior, Dysplastic corpus callosum, Tapered ...	ORPHA:544488
Neurodevelopmental Disorder With Spasticity, Seizures, And Brain Abnormalities	Microcephaly, Dysplastic corpus callosum, Simplified gyral pattern, Dysphagia, Failure to thrive	OMIM:620001
Pseudohypoparathyroidism, Type Ia	Short metacarpal, Basal ganglia calcification, Short toe, Choroid plexus calcification, Short met...	OMIM:103580
Dyggve-Melchior-Clausen Disease	Glenoid fossa hypoplasia, Coxa vara, Hyperactivity, Iliac crest serration, Rhizomelia, Wide pubic...	ORPHA:239
21Q22.11Q22.12 Microdeletion Syndrome	Short proximal phalanx of the 5th finger, Hyperactivity, Failure to thrive in infancy, Microcepha...	ORPHA:261323
Helsmoortel-Van Der Aa Syndrome	Compulsive behaviors, Short 4th toe, Prominent fingertip pads, Clinodactyly of the 5th finger, Ab...	OMIM:615873
Pseudopseudohypoparathyroidism	Short distal phalanx of the 3rd finger, Short metatarsal, Obesity, Short 5th finger, Short distal...	ORPHA:79445
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures	Exaggerated startle response, Tremor, Truncal titubation, Dysmetria, Gait ataxia, Agitation	OMIM:618056
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome	Short toe, Obesity, Brachydactyly	ORPHA:3085
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14	Small for gestational age, Small hand, Obesity, Short foot, Truncal obesity, Clinodactyly	ORPHA:96184
Cerebral Creatine Deficiency Syndrome 1	Broad-based gait, Dystonia, Microcephaly, Aggressive behavior, Gait disturbance, Hypoplasia of th...	OMIM:300352
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly	Short 3rd toe, Microcephaly, Dysplastic corpus callosum, Tapered finger, Short thumb, Split hand,...	OMIM:618569
Bardet-Biedl Syndrome 8	Obesity	OMIM:615985
Orofaciodigital Syndrome Vi	Brachydactyly, Toe syndactyly, Short femur, Mesoaxial hand polydactyly, Postaxial polydactyly, Pr...	OMIM:277170
Tay-Sachs Disease	Short attention span, Exaggerated startle response, Dystonia, Tremor, Inability to walk, Dysmetri...	ORPHA:845
Prader-Willi Syndrome	Syndactyly, Failure to thrive in infancy, Acromicria, Small hand, Obesity, Narrow palm, Genu valg...	OMIM:176270
Weaver Syndrome	Short fourth metatarsal, Single transverse palmar crease, Calcaneovalgus deformity, Hypoplastic i...	OMIM:277590
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome	Exaggerated startle response, Impaired vibration sensation in the lower limbs, Difficulty walking	ORPHA:320406
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome	Hydrocephalus, Sandal gap, Obesity, Brachydactyly	ORPHA:2180
Rett Syndrome, Congenital Variant	Dystonia, Tongue thrusting, Simplified gyral pattern, Bruxism, Irritability, Athetosis, Talipes e...	OMIM:613454
Polycystic Ovary Syndrome 1	Obesity	OMIM:184700
Intellectual Developmental Disorder, X-Linked, Syndromic 11	Obesity	OMIM:300238
8P23.1 Microdeletion Syndrome	Broad hallux phalanx, Proximal placement of thumb, Microcephaly, Tapered finger, Obesity, Weight ...	ORPHA:251071
Desbuquois Dysplasia 2	Epiphyseal dysplasia, Short metacarpal, Single transverse palmar crease, Monkey wrench femoral ne...	OMIM:615777
Noonan Syndrome 13	Overlapping toe, Aggressive behavior, Microcephaly, Tapered finger, Cubitus valgus, Metatarsus ad...	OMIM:619087
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome	Broad-based gait, Small for gestational age, Down-sloping shoulders, Microcephaly, Deviation of t...	ORPHA:391408
Cerebellar Ataxia, Brain Abnormalities, And Cardiac Conduction Defects	Ataxia, Microcephaly, Tapered finger, Inability to walk, Dysmetria, Dysphagia, Clinodactyly, Pach...	OMIM:619576
Periventricular Nodular Heterotopia 9	Prominent fingertip pads, Broad-based gait, Single transverse palmar crease, Microcephaly, Tapere...	OMIM:618918
Retinitis Pigmentosa	Obesity	ORPHA:791
Acth-Independent Macronodular Adrenal Hyperplasia 2	Abdominal obesity, Increased body weight, Depression	OMIM:615954
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities	Microcephaly, Focal polymicrogyria, Dysplastic corpus callosum, Partial agenesis of the corpus ca...	OMIM:619103
Adenylosuccinase Deficiency	Hyperactivity, Microcephaly, Aggressive behavior, Inability to walk, Cerebral atrophy, Gait ataxi...	OMIM:103050
Autosomal Recessive Cutis Laxa Type 2A	Thick cerebral cortex, Dystonia, Ataxia, Congenital hip dislocation, Dysplastic corpus callosum, ...	ORPHA:357058
Intellectual Developmental Disorder, X-Linked 98	Hyperactivity, Ataxia, Single transverse palmar crease, Aggressive behavior, Bulimia, Self-biting...	OMIM:300912
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii	Micromelia, Microcephaly, Hypoplastic iliac wing, Coxa vara, Truncal obesity, Narrow pelvis bone,...	ORPHA:2637
Microcephaly-Capillary Malformation Syndrome	Brachydactyly, Small for gestational age, Simplified gyral pattern, Cerebral atrophy, Hypoplasia ...	OMIM:614261
Spinocerebellar Ataxia, Autosomal Recessive 20	Ataxia, Inability to walk, Talipes equinovarus, Camptodactyly, Clinodactyly, Cerebral cortical at...	OMIM:616354
Wiedemann-Steiner Syndrome	Psychomotor deterioration, Short attention span, Hyperactivity, Rhizomelia, Abnormality of the ha...	ORPHA:319182
Aarskog-Scott Syndrome	Hyperextensibility of the finger joints, Syndactyly, Single transverse palmar crease, Broad palm,...	OMIM:305400
Alkuraya-Kucinskas Syndrome	Overlapping toe, Hydrocephalus, Aplasia/Hypoplasia of the corpus callosum, Cutaneous syndactyly, ...	OMIM:617822
Pseudohypoparathyroidism Type 1A	Short metacarpal, Cerebral calcification, Short fifth metatarsal, Confusion, Basal ganglia calcif...	ORPHA:79443
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits	Syndactyly, Ataxia, Microcephaly, Inability to walk, Dysmetria, Dystonia, Clinodactyly	OMIM:618087
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation	Short attention span, Broad-based gait, Exaggerated startle response, Ataxia, Dystonia	ORPHA:438216
Bardet-Biedl Syndrome 3	Obesity, Postaxial polydactyly, Brachydactyly	OMIM:600151
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 3	Broad toe, Dysplastic corpus callosum, Cerebral atrophy, Hypoplasia of the corpus callosum, Broad...	OMIM:616900
Macrocephaly/Autism Syndrome	Short attention span, Overgrowth, Obesity, Large for gestational age	OMIM:605309
Prolactin Deficiency With Obesity And Enlarged Testes	Obesity	OMIM:264120
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion	Small for gestational age, Bulimia, Perisylvian polymicrogyria, Polyphagia, Obesity, Small hand, ...	ORPHA:98793
Kleefstra Syndrome 1	Single transverse palmar crease, Aggressive behavior, Microcephaly, Obesity, Talipes equinovarus,...	OMIM:610253
X-Linked Intellectual Disability, Stevenson Type	Tapered finger, Obesity, Genu valgum, Large hands, Tall stature	ORPHA:85325
Niemann-Pick Disease Type C	Progressive neurologic deterioration, Tremor, Progressive gait ataxia, Low frustration tolerance,...	ORPHA:646
Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome	Finger syndactyly, Toe syndactyly, Short hallux, Truncal obesity, Abnormal metacarpal morphology,...	ORPHA:3224
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii	Coxa vara, Tibial bowing, Hypoplastic iliac wing, Clinodactyly of the 5th finger, Radial bowing, ...	OMIM:210720
Pseudohypoparathyroidism, Type Ic	Short metacarpal, Basal ganglia calcification, Choroid plexus calcification, Short metatarsal, Ob...	OMIM:612462
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2	Small for gestational age, Bulimia, Perisylvian polymicrogyria, Polyphagia, Obesity, Small hand, ...	ORPHA:177904
Congenital Disorder Of Glycosylation, Type Id	Failure to thrive, Microcephaly, Long fingers, Cerebral atrophy, Talipes equinovarus, Clinodactyl...	OMIM:601110
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1	Small for gestational age, Bulimia, Perisylvian polymicrogyria, Polyphagia, Obesity, Small hand, ...	ORPHA:177901
Short Stature, Microcephaly, And Endocrine Dysfunction	Broad-based gait, Ataxia, Microcephaly, Simplified gyral pattern, Dysmetria, Truncal obesity, Dys...	OMIM:616541
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures	Microcephaly, Dysplastic corpus callosum, Lissencephaly, Decreased body weight, Polymicrogyria, A...	OMIM:614833
Orofaciodigital Syndrome Xvii	Short middle phalanx of the 2nd finger, Partial duplication of thumb phalanx, Central Y-shaped me...	OMIM:617926
Intellectual Developmental Disorder, Autosomal Dominant 29	Hyperactivity, Broad hallux, Sandal gap, Aggressive behavior, Obesity, Self-injurious behavior, H...	OMIM:616078
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15	Small for gestational age, Bulimia, Perisylvian polymicrogyria, Polyphagia, Obesity, Small hand, ...	ORPHA:98754
Basel-Vanagaite-Smirin-Yosef Syndrome	Finger syndactyly, Overlapping fingers, Overlapping toe, Single transverse palmar crease, Microce...	ORPHA:464738
Kleefstra Syndrome Due To 9Q34 Microdeletion	Absent septum pellucidum, Microcephaly, Obesity, Depression, Irritability, Subcortical cerebral a...	ORPHA:96147
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3	Hypoplasia of the ulna, Tapered finger, Hip dislocation, Obesity, Delayed ossification of carpal ...	OMIM:618395
Metachromatic Leukodystrophy, Late Infantile Form	Gait ataxia, Progressive gait ataxia, Tip-toe gait, Dystonia, Emotional lability, Abnormal social...	ORPHA:309256
Spinocerebellar Ataxia 47	Ataxia, Tapered finger, Small hand, Dysmetria, Clinodactyly	OMIM:617931
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Abnormal posturing, Failure to thrive, Cerebral atrophy	OMIM:614857
6P22 Microdeletion Syndrome	Clinodactyly, Finger syndactyly, Hydrocephalus	ORPHA:251046
Opitz-Kaveggia Syndrome	Syndactyly, Broad hallux, Single transverse palmar crease, Hydrocephalus, Partial agenesis of the...	OMIM:305450
Al Kaissi Syndrome	Broad-based gait, Torticollis, Microcephaly, Small hand, Deep palmar crease, Hypoplasia of the co...	OMIM:617694
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair	Polyphagia, Obesity	OMIM:609734
Wagr Syndrome	Obesity	ORPHA:893
Diamond-Blackfan Anemia 21	Hallux valgus, Sandal gap, Tapered finger, Microcephaly, Preaxial hand polydactyly, Short toe, Ob...	OMIM:620072
Neurodegeneration With Brain Iron Accumulation 2B	Short attention span, Hyperactivity, Dystonia, Impulsivity, Neurofibrillary tangles, Cerebral atr...	OMIM:610217
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity	Partial agenesis of the corpus callosum, Obesity, Cerebral atrophy, Lateral ventricle dilatation,...	OMIM:617296
6Q Terminal Deletion Syndrome	Hallux valgus, Failure to thrive, Periventricular heterotopia, Obesity, Abnormality of neuronal m...	ORPHA:75857
Atkin-Flaitz Syndrome	Obesity	ORPHA:1193
Choreoacanthocytosis	Caudate atrophy, Compulsive behaviors, Limb dystonia, Loss of ambulation, Laryngeal dystonia, Sma...	ORPHA:2388
Joubert Syndrome 8	Ataxia, Obesity	OMIM:612291
Gm2-Gangliosidosis, Ab Variant	Exaggerated startle response, Chorea, Dementia, Dystonia	OMIM:272750
Joubert Syndrome 37	Postaxial polydactyly, Obesity, Hypoplasia of the corpus callosum	OMIM:619185
Pitt-Hopkins Syndrome	Short fourth metatarsal, Short fifth metatarsal, Overlapping toe, Single transverse palmar crease...	OMIM:610954
Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Mental Retardation, And Recurrent Inflammatory Episodes	Small hand, Broad finger, Clinodactyly, Short phalanx of finger, Brachydactyly	OMIM:614684
Tay-Sachs Disease	Psychomotor deterioration, Exaggerated startle response, Dementia	OMIM:272800
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis	Syndactyly, Clinodactyly, Brachydactyly	OMIM:610023
Microcephaly 26, Primary, Autosomal Dominant	Failure to thrive, Microcephaly, Dysplastic corpus callosum, Simplified gyral pattern, Hypoplasia...	OMIM:619179
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Progressive neurologic deterioration, Large for gestational age, Tremor, Increased body weight, A...	ORPHA:263455
Non-Progressive Cerebellar Ataxia With Intellectual Disability	Ataxia, Abnormal cortical gyration, Aggressive behavior, Unsteady gait, Dysmetria, Nonprogressive...	ORPHA:314647
Wilson Disease	Aggressive behavior, Hypersexuality, Increased body weight, Depression, Weight loss, Difficulty w...	ORPHA:905
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy	Waddling gait, Proximal muscle weakness in upper limbs, Scapular winging, Elbow flexion contractu...	ORPHA:98855
20P13 Microdeletion Syndrome	Finger syndactyly, Failure to thrive in infancy, Microcephaly, Polydactyly, Decreased body weight...	ORPHA:313781
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome	Syndactyly, Osteolysis involving bones of the upper limbs, Osteolysis involving bones of the lowe...	ORPHA:88630
Retinitis Pigmentosa 51	Polydactyly, Obesity	OMIM:613464
Developmental And Epileptic Encephalopathy 49	Hyperactivity, Cerebral calcification, Exaggerated startle response, Microcephaly, Basal ganglia ...	OMIM:617281
Insulin-Like Growth Factor I Deficiency	Short attention span, Hyperactivity, Microcephaly, Decreased body weight, Clinodactyly of the 5th...	OMIM:608747
Tatton-Brown-Rahman Syndrome	Aggressive behavior, Short toe, Obesity, Widely spaced toes, Proportionate tall stature	ORPHA:404443
Magel2-Related Prader-Willi-Like Syndrome	Impulsivity, Impaired temperature sensation, Increased body weight, Abdominal obesity, Abnormal t...	ORPHA:398069
Sim1-Related Prader-Willi-Like Syndrome	Impaired temperature sensation, Obesity, Abdominal obesity, Skin-picking, Abnormal temper tantrum...	ORPHA:398079
Pituitary Hormone Deficiency, Combined Or Isolated, 7	Truncal obesity, Abdominal obesity	OMIM:618160
Spastic Tetraplegia And Axial Hypotonia, Progressive	Exaggerated startle response, Ataxia	OMIM:618598
Schilbach-Rott Syndrome	Microcephaly, 2-3 toe cutaneous syndactyly, 3-4 finger cutaneous syndactyly, Attention deficit hy...	OMIM:164220
Kleefstra Syndrome	Microcephaly, Aggressive behavior, Self-mutilation, Obesity, Agenesis of corpus callosum, Self-in...	ORPHA:261494
Obesity Due To Congenital Leptin Deficiency	Polyphagia, Obesity	ORPHA:66628
Bardet-Biedl Syndrome 1	Syndactyly, Ataxia, Postaxial polydactyly, Postaxial hand polydactyly, Obesity, Postaxial foot po...	OMIM:209900
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy	Truncal obesity, Large for gestational age	ORPHA:293964
Ulnar Agenesis And Endocardial Fibroelastosis	Neonatal death	OMIM:276822
Cerebrofacioarticular Syndrome	Syndactyly, Ataxia, Microcephaly, Dysplastic corpus callosum, Gray matter heterotopia, Self-injur...	ORPHA:314679
X-Linked Emery-Dreifuss Muscular Dystrophy	Waddling gait, Proximal muscle weakness in upper limbs, Scapular winging, Elbow flexion contractu...	ORPHA:98863
Emery-Dreifuss Muscular Dystrophy	Waddling gait, Proximal muscle weakness in upper limbs, Scapular winging, Elbow flexion contractu...	ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy	Waddling gait, Proximal muscle weakness in upper limbs, Scapular winging, Elbow flexion contractu...	ORPHA:98853
Cohen Syndrome	Finger syndactyly, Failure to thrive in infancy, Arachnodactyly, Sandal gap, Microcephaly, Tapere...	ORPHA:193
White-Sutton Syndrome	Hyperactivity, Microcephaly, Aggressive behavior, Obesity, Self-injurious behavior, Subcortical c...	ORPHA:468678
Scapuloperoneal Spinal Muscular Atrophy	Scapular winging, Broad-based gait, Torticollis, Metatarsus adductus, Small hand, Scapular muscle...	OMIM:181405
Citrullinemia Type Ii	Restlessness, Hyperactivity, Delirium, Confusion, Aggressive behavior, Abnormal eating behavior, ...	ORPHA:247585
Septo-Optic Dysplasia Spectrum	Septo-optic dysplasia, Absent septum pellucidum, Obesity, Polydipsia, Agenesis of corpus callosum	ORPHA:3157
Obesity-Hypoventilation Syndrome	Obesity	OMIM:257500
Neurodevelopmental Disorder With Poor Growth And Skeletal Anomalies	Hallux valgus, Swan neck-like deformities of the fingers, Microcephaly, Cerebral cortical atrophy...	OMIM:619880
Cohen Syndrome	Short metacarpal, Small for gestational age, Single transverse palmar crease, Microcephaly, Taper...	OMIM:216550
Spondyloepimetaphyseal Dysplasia, Strudwick Type	Brachydactyly, Club-shaped proximal femur, Clinodactyly, Hypoplastic pubic bone, Coxa vara, Genu ...	OMIM:184250
Sandhoff Disease	Progressive psychomotor deterioration, Exaggerated startle response, Ataxia, Impaired temperature...	OMIM:268800
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder	Microcephaly, Spina bifida occulta, Pica, Small cerebral cortex, Hypoplasia of the corpus callosu...	OMIM:617360
Hypogonadotropic Hypogonadism 27 Without Anosmia	Obesity	OMIM:619755
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Hyperactivity, Broad hallux, Impulsivity, Aggressive behavior, Avascular necrosis of the capital ...	ORPHA:353281
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome	Eunuchoid habitus, Obesity	ORPHA:2234
Chromosome Xq27.3-Q28 Duplication Syndrome	Short foot, Abdominal obesity, Small for gestational age, Small hand	OMIM:300869
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities	Hip contracture, Microcephaly, Inability to walk, Unsteady gait, Elbow flexion contracture, Obesi...	OMIM:618493
Oculoskeletodental Syndrome	Metaphyseal dysplasia, Dysplastic corpus callosum, Short 5th finger, Hypoplasia of the capital fe...	ORPHA:557003
Arthrogryposis, Distal, Type 5	Arachnodactyly, Decreased palmar creases, Limited wrist extension, Absent phalangeal crease, Bila...	OMIM:108145
Even-Plus Syndrome	Dysplastic corpus callosum, Epiphyseal dysplasia, Agenesis of corpus callosum, Dysplasia of the f...	OMIM:616854
Chromosome 1P36 Deletion Syndrome, Distal	Clinodactyly of the 5th finger, Pachygyria, Agenesis of corpus callosum, Self-mutilation, Opposit...	OMIM:607872
Silver-Russell Syndrome	Failure to thrive in infancy, Sandal gap, Cachexia, Obesity, Upper limb asymmetry, Abnormal appen...	ORPHA:813
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation	Short palm, Single transverse palmar crease, Aggressive behavior, Obesity, Truncal obesity, Self-...	ORPHA:466950
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease	Increased body weight, Depression, Memory impairment, Abdominal obesity, Cognitive impairment, Em...	ORPHA:189427
Laron Syndrome	Truncal obesity, Short toe, Abnormality of the elbow, Brachydactyly	ORPHA:633
Developmental And Epileptic Encephalopathy 8	Exaggerated startle response, Overgrowth	OMIM:300607
You-Hoover-Fong Syndrome	Ataxia, Microcephaly, Clinodactyly, Paroxysmal bursts of laughter, Brachydactyly	OMIM:616954
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Compulsive behaviors, Abnormal repetitive mannerisms, Syndactyly, Abnormal lateral ventricle morp...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Compulsive behaviors, Abnormal repetitive mannerisms, Syndactyly, Abnormal lateral ventricle morp...	ORPHA:353277
Eiken Syndrome	Broad femoral neck, Delayed epiphyseal ossification, Flat acetabular roof, Fibular hypoplasia, Fl...	OMIM:600002
X-Linked Intellectual Disability, Shashi Type	Obesity	ORPHA:85286
Distal Deletion 12Q	Hyperactivity, Failure to thrive in infancy, Single transverse palmar crease, Broad hallux, Micro...	ORPHA:96149
Braddock-Carey Syndrome 1	Microcephaly, Small hand, Talipes equinovarus, Camptodactyly, Clinodactyly, Agenesis of corpus ca...	OMIM:619980
Joubert Syndrome 23	Dysplastic corpus callosum, Polydactyly	OMIM:616490
Subaortic Stenosis-Short Stature Syndrome	Bilateral single transverse palmar creases, Obesity, Synostosis of carpal bones	ORPHA:3191
Chromosome 3Q29 Duplication Syndrome	Multiple palmar creases, Obesity, Microcephaly	OMIM:611936
Pseudohypoparathyroidism, Type Ib	Short metacarpal, Obesity, Brachydactyly	OMIM:603233
Xylt1-Cdg	Microcephaly, Coxa valga, Flared metaphysis, Truncal obesity, Short long bone, Short femoral neck...	ORPHA:370930
Waardenburg Syndrome, Type 3	Scapular winging, Camptodactyly of finger, Microcephaly, Cutaneous finger syndactyly, Carpal syno...	OMIM:148820
Down Syndrome	Bilateral single transverse palmar creases, Sandal gap, Obesity, Gait disturbance, Clinodactyly o...	ORPHA:870
Stiff-Person Syndrome	Depression, Exaggerated startle response, Opisthotonus	OMIM:184850
Megalencephaly	Truncal obesity	ORPHA:2477
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies	Short attention span, Aggressive behavior, Tapered finger, Limited elbow extension, Hip dislocati...	OMIM:301066
Hypomagnesemia, Seizures, And Impaired Intellectual Development 1	Class III obesity	OMIM:616418
Pituitary Adenoma 4, Acth-Secreting	Emotional lability, Abdominal obesity, Obesity	OMIM:219090
Sandestig-Stefanova Syndrome	Small for gestational age, Rocker bottom foot, Clinodactyly, Hypoplasia of the corpus callosum, C...	OMIM:618804
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1	Rocker bottom foot, Microcephaly, Dysplastic corpus callosum, Camptodactyly, Failure to thrive	OMIM:604273
Suleiman-El-Hattab Syndrome	Single transverse palmar crease, Microcephaly, Polydactyly, Clinodactyly, Failure to thrive, Brac...	OMIM:618950
Borjeson-Forssman-Lehmann Syndrome	Tapered finger, Microcephaly, Short toe, Truncal obesity, Abnormal hip bone morphology, Camptodac...	ORPHA:127
Spastic Paraplegia, Optic Atrophy, And Neuropathy	Inability to walk, Exaggerated startle response	OMIM:609541
Intellectual Developmental Disorder, X-Linked 106	Clinodactyly of the 5th finger, Clinodactyly, Microcephaly	OMIM:300997
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome	Hydrocephalus, Obesity	OMIM:601794
Vici Syndrome	Schizencephaly, Microcephaly, Gray matter heterotopia, Dysphagia, Abnormal posturing, Failure to ...	OMIM:242840
Temtamy Preaxial Brachydactyly Syndrome	Syndactyly, Short metacarpal, Hitchhiker thumb, Tarsal synostosis, Short metatarsal, Radioulnar s...	OMIM:605282
Witteveen-Kolk Syndrome	Proximal placement of thumb, Cortical dysplasia, Short palm, Clinodactyly of the 5th finger, Hype...	OMIM:613406
Developmental And Epileptic Encephalopathy 68	Exaggerated startle response, Failure to thrive	OMIM:618201
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia	Gray matter heterotopia, Obesity, Brachydactyly	OMIM:608624
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome	Obesity	ORPHA:363741
Autosomal Recessive Spastic Paraplegia Type 20	Abnormality of the hand, Microcephaly, Abnormal thumb morphology, Abnormal hand morphology, Genu ...	ORPHA:101000
Senior-Loken Syndrome 9	Polydactyly, Hypoplasia of the femoral head, Obesity	OMIM:616629
Fanconi Anemia, Complementation Group S	Ataxia, Proximal placement of thumb, Microcephaly, Clinodactyly, Failure to thrive	OMIM:617883
Momo Syndrome	Large for gestational age, Obesity, Femoral bowing, Large hands, Overgrowth, Short sternum, Conge...	ORPHA:2563
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis	Waddling gait, Short metacarpal, Brachydactyly, Small for gestational age, Rhizomelia, Microcepha...	OMIM:614813
Orofaciodigital Syndrome Iv	Toe syndactyly, Postaxial polydactyly, Porencephalic cyst, Cerebral atrophy, Hand polydactyly, Fo...	OMIM:258860
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia	Obesity	OMIM:610628
Kallmann Syndrome	Tremor, Ataxia, Obesity, Gait disturbance	ORPHA:478
Ulnar-Mammary Syndrome	Abnormal morphology of the radius, Camptodactyly of finger, Abnormality of the humerus, Postaxial...	ORPHA:3138
Koolen-De Vries Syndrome Due To A Point Mutation	Hand muscle atrophy, Anomaly of lower limb diaphyses, Small for gestational age, Arachnodactyly, ...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Hand muscle atrophy, Anomaly of lower limb diaphyses, Small for gestational age, Arachnodactyly, ...	ORPHA:363958
Rabin-Pappas Syndrome	Failure to thrive in infancy, Microcephaly, Hydrocephalus, Obesity, Overgrowth, Hypoplasia of the...	OMIM:620155
Mulchandani-Bhoj-Conlin Syndrome	Clinodactyly, Failure to thrive, 2-3 toe syndactyly	OMIM:617352
Rubinstein-Taybi Syndrome 1	Single transverse palmar crease, Hypoplastic iliac wing, Prominent fingertip pads, Clinodactyly o...	OMIM:180849
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb	Clinodactyly, Single transverse palmar crease, Brachydactyly, Camptodactyly	OMIM:613604
Microcephalic Primordial Dwarfism, Dauber Type	Microcephaly, Abnormal carpal morphology, Obesity, Madelung deformity, Hip dysplasia, Limb underg...	ORPHA:319675
Methylcobalamin Deficiency Type Cble	Syndactyly, Microcephaly, Hydrocephalus, Abnormal cerebral white matter morphology, Clinodactyly,...	ORPHA:2169
Van Maldergem Syndrome 1	Short fourth metatarsal, Clinodactyly, Subcortical band heterotopia, Simplified gyral pattern, Gr...	OMIM:601390
Monosomy 13Q34	Microcephaly, Postaxial hand polydactyly, Obesity, Postaxial foot polydactyly, Agenesis of corpus...	ORPHA:96168
Neurodevelopmental Disorder With Poor Growth, Large Ears, And Dysmorphic Facies	Hallux valgus, Small for gestational age, Microcephaly, Broad thumb, Clinodactyly, Failure to thr...	OMIM:620194
C Syndrome	Short metacarpal, Toe syndactyly, Micromelia, Microcephaly, Postaxial hand polydactyly, Hip dislo...	OMIM:211750
Telo2-Related Intellectual Disability-Neurodevelopmental Disorder	Hip contracture, Brachydactyly, Ataxia, Overlapping toe, Rocker bottom foot, Tapered finger, Inab...	ORPHA:488642
Dihydropyrimidine Dehydrogenase Deficiency	Epiphyseal dysplasia, Micromelia, Microcephaly, Inability to walk, Cerebral atrophy, Irritability...	ORPHA:1675
Prader-Willi Syndrome	Perisylvian polymicrogyria, Small hand, Short foot, Abnormal cerebral white matter morphology, Ab...	ORPHA:739
Tuberous Sclerosis Complex	Hyperactivity, Impulsivity, Aggressive behavior, Repetitive compulsive behavior, Cortical dysplas...	ORPHA:805
Acrofacial Dysostosis Syndrome Of Rodriguez	Overlapping toe, Single transverse palmar crease, Fibular hypoplasia, Talipes equinovarus, Tripha...	OMIM:201170
19P13.13 Microdeletion Syndrome	Sandal gap, Corpus callosum atrophy, Long fingers, Attention deficit hyperactivity disorder, Clin...	ORPHA:357001
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies	Overlapping toe, Microcephaly, Tapered finger, Obesity, 2-3 toe syndactyly, Difficulty walking, H...	OMIM:618653
Tarp Syndrome	Single transverse palmar crease, Rocker bottom foot, Postaxial polydactyly, Hypoplasia of the rad...	OMIM:311900
Bardet-Biedl Syndrome 6	Syndactyly, Obesity, Postaxial polydactyly	OMIM:605231
Short Ulna-Dysmorphism-Hypotonia-Intellectual Disability Syndrome	Hypoplasia of the ulna, Clinodactyly, Decreased body weight	ORPHA:357175
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome	Broad-based gait, Aggressive behavior, Tongue thrusting, Obesity, Compulsive behaviors, Hypoplasi...	ORPHA:369950
Acrofacial Dysostosis 1, Nager Type	Aplasia/Hypoplasia of the thumb, Aqueductal stenosis, Foot oligodactyly, Triphalangeal thumb, Bro...	OMIM:154400
Mitochondrial Complex I Deficiency, Nuclear Type 39	Dysplastic corpus callosum, Small for gestational age	OMIM:620135
Lipodystrophy, Familial Partial, Type 6	Abdominal obesity	OMIM:615980
Intellectual Developmental Disorder, Autosomal Recessive 35	Hypoplasia of the ulna, Clinodactyly, Decreased body weight	OMIM:615162
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome	Short palm, Single transverse palmar crease, Aggressive behavior, Obesity, Self-injurious behavio...	ORPHA:466943
Verheij Syndrome	Small for gestational age, Microcephaly, Hip dislocation, Cerebral atrophy, Short 5th finger, Cli...	OMIM:615583
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Aggressive behavior, Impaired pain sensation, Obesity, Depression, Self-injurious behavior, Compu...	ORPHA:293987
Oculodentodigital Dysplasia	Finger syndactyly, Cerebral calcification, Ataxia, Toe syndactyly, Short hallux, Aplasia/Hypoplas...	ORPHA:2710
Congenital Disorder Of Glycosylation, Type Iif	Clinodactyly, Ataxia, Microcephaly	OMIM:603585
Joubert Syndrome 1	Hyperactivity, Ataxia, Microcephaly, Aggressive behavior, Postaxial hand polydactyly, Occipital m...	OMIM:213300
Neurodegeneration With Brain Iron Accumulation 1	Hyperactivity, Dystonia, Ataxia, Akinesia, Tremor, Phonic tics, Depression, Choreoathetosis, Blep...	OMIM:234200
Takenouchi-Kosaki Syndrome	Ataxia, Overlapping toe, Proximal placement of thumb, Tapered finger, Clinodactyly, Abnormal cere...	OMIM:616737
Neutral Lipid Storage Disease With Ichthyosis	Ataxia, Obesity, Difficulty walking	ORPHA:98907
Intellectual Disability-Coarse Face-Macrocephaly-Cerebellar Hypotrophy Syndrome	Broad-based gait, Ataxia, Abnormal cerebral white matter morphology, Talipes equinovarus, Camptod...	ORPHA:397709
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies	Exaggerated startle response, Failure to thrive, Cognitive impairment, Dysphagia	OMIM:617527
Genitourinary And/Or Brain Malformation Syndrome	Syndactyly, Absent septum pellucidum, Dysplastic corpus callosum, Gray matter heterotopia, Colpoc...	OMIM:618820
Blepharocheilodontic Syndrome 1	Neural tube defect, Clinodactyly, Cutaneous syndactyly	OMIM:119580
Van Maldergem Syndrome 2	Short fourth metatarsal, Ulnar deviation of the hand, Clinodactyly, Subcortical band heterotopia,...	OMIM:615546
Early Infantile Epileptic Encephalopathy	Diffuse cerebral atrophy, Failure to thrive, Hyperactivity, Microcephaly, Tremor, Diffuse white m...	ORPHA:1934
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects	Clinodactyly, Ataxia, Talipes equinovarus	OMIM:616789
Hypogonadotropic Hypogonadism 2 With Or Without Anosmia	Ectrodactyly, Clinodactyly, Agenesis of corpus callosum	OMIM:147950
Bardet-Biedl Syndrome 12	Obesity, Cognitive impairment	OMIM:615989
Myhre Syndrome	Small for gestational age, Ataxia, Overlapping toe, Microcephaly, Short toe, Obesity, 2-3 toe syn...	OMIM:139210
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita	Clinodactyly, Single transverse palmar crease	ORPHA:178148
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive	Obesity	OMIM:615418
White-Kernohan Syndrome	Dysplastic corpus callosum, Hip dysplasia, Obesity, Attention deficit hyperactivity disorder	OMIM:619426
Dworschak-Punetha Neurodevelopmental Syndrome	Dysplastic corpus callosum, Colpocephaly, Agenesis of corpus callosum, Microcephaly	OMIM:619955
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Femoral bowing, Abnormality of the wrist, Elbow ankylosis, Short metacarpal, Abnormal metacarpal ...	ORPHA:95699
Momo Syndrome	Short sternum, Large hands, Overgrowth, Obesity	OMIM:157980
Monosomy 22Q13.3	Hyperactivity, Hair-pulling, Obesity, Large hands, Bruxism, Clinodactyly of the 5th finger, Agene...	ORPHA:48652
Orofaciodigital Syndrome I	Syndactyly, Abnormal cortical gyration, Microcephaly, Myelomeningocele, Hydrocephalus, Porencepha...	OMIM:311200
Müllerian Aplasia And Hyperandrogenism	Cubitus valgus, Obesity, Brachydactyly	ORPHA:247768
Bardet-Biedl Syndrome	Finger syndactyly, Postaxial hand polydactyly, Obesity	ORPHA:110
3Q29 Microduplication Syndrome	Toe syndactyly, Sandal gap, Microcephaly, Obesity, Camptodactyly of toe	ORPHA:251038
Galloway-Mowat Syndrome 7	Hallux valgus, Arachnodactyly, Single transverse palmar crease, Microcephaly, Partial duplication...	OMIM:618348
Proprotein Convertase 1/3 Deficiency	Obesity	OMIM:600955
Kapur-Toriello Syndrome	Pachygyria, Dysplastic corpus callosum, Failure to thrive, Polymicrogyria	ORPHA:2328
Dpagt1-Cdg	Ataxia, Arachnodactyly, Akinesia, Microcephaly, Aggressive behavior, Inability to walk, Tremor, C...	ORPHA:86309
Hyperekplexia-Epilepsy Syndrome	Exaggerated startle response	ORPHA:163985
Turner Syndrome Due To Structural X Chromosome Anomalies	Hypermobility of toe joints, Failure to thrive in infancy, Short toe, Delayed early-childhood soc...	ORPHA:99413
Turner Syndrome	Hypermobility of toe joints, Failure to thrive in infancy, Short toe, Delayed early-childhood soc...	ORPHA:881
Mosaic Monosomy X	Hypermobility of toe joints, Failure to thrive in infancy, Short toe, Delayed early-childhood soc...	ORPHA:99228
Monosomy X	Hypermobility of toe joints, Failure to thrive in infancy, Short toe, Delayed early-childhood soc...	ORPHA:99226
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence	Syndactyly, Proximal placement of thumb, Microcephaly, Short palm, Clinodactyly, Agenesis of corp...	OMIM:217980
Meningioma	Ataxia, Obesity, Memory impairment, Transient global amnesia, Cognitive impairment, Difficulty wa...	ORPHA:2495
Ring Chromosome Y Syndrome	Obesity	ORPHA:261529
Thrombocytopenia, Paris-Trousseau Type	Clinodactyly, Radial deviation of finger	OMIM:188025
Proteasome-Associated Autoinflammatory Syndrome 2	Clinodactyly, Failure to thrive, Brachydactyly	OMIM:618048
1P36 Deletion Syndrome	Camptodactyly of finger, Microcephaly, Abnormal repetitive mannerisms, Polyphagia, Obesity, Short...	ORPHA:1606
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome	Broad-based gait, Reduced cerebral white matter volume, Large for gestational age, Broad 2nd toe,...	OMIM:280000
Tbck-Related Intellectual Disability Syndrome	Broad toe, Microcephaly, Inability to walk, Clinodactyly, 2-3 toe syndactyly, Cognitive impairmen...	ORPHA:488632
Lenz-Majewski Hyperostotic Dwarfism	Hyperextensibility of the finger joints, Syndactyly, Diaphyseal thickening, Microcephaly, Aplasia...	OMIM:151050
22Q11.2 Deletion Syndrome	Arachnodactyly, Spina bifida, Microcephaly, Hydrocephalus, Meningocele, Obesity, Occipital myelom...	ORPHA:567
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome	Hallux valgus, Ataxia, Shyness, Aggressive behavior, Dysplastic corpus callosum, Pseudobulbar par...	ORPHA:466791
Three M Syndrome 2	Scapular winging, Small for gestational age, Slender long bone, Short 5th finger, Prominent calca...	OMIM:612921
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1	Hyperactivity, Microcephaly, Tapered finger, Slender finger, Obesity, Genu valgum, Talipes equino...	OMIM:309580
Coffin-Siris Syndrome	Hyperactivity, Microcephaly, Aggressive behavior, Simplified gyral pattern, Short 5th finger, Ora...	ORPHA:1465
17Q24.2 Microdeletion Syndrome	Failure to thrive in infancy, Aggressive behavior, Cubitus valgus, Upper limb undergrowth, Trunca...	ORPHA:529962
Combined Oxidative Phosphorylation Deficiency 12	Dysplastic corpus callosum, Leukoencephalopathy, Hypoplasia of the corpus callosum, Dystonia, Fai...	OMIM:614924
Bdv Syndrome	Obesity	OMIM:619326
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome	Obesity	OMIM:194072
Tarp Syndrome	Finger syndactyly, Broad-based gait, Single transverse palmar crease, Rocker bottom foot, Postaxi...	ORPHA:2886
Trichothiodystrophy	Cerebral dysmyelination, Microcephaly, Partial agenesis of the corpus callosum, Clubbing, Gait at...	ORPHA:33364
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Overweight, Small for gestational age, Obesity	ORPHA:26793
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis	Ataxia, Postural tremor, Microcephaly, Tapered finger, Neuronal loss in the cerebral cortex, Trun...	OMIM:301072
Unilateral Polymicrogyria	Microcephaly, Cortical dysplasia, Perisylvian polymicrogyria, Pseudobulbar paralysis, Abnormal po...	ORPHA:268943
Turnpenny-Fry Syndrome	Torticollis, Overlapping toe, Microcephaly, Tapered finger, Long fingers, Small hand, Prominent i...	OMIM:618371
Ulnar-Mammary Syndrome	Deformed radius, Hypoplasia of the ulna, Short humerus, Hypoplastic scapulae, Aplasia of the 5th ...	OMIM:181450
W Syndrome	Hypoplasia of the ulna, Radial bowing, Elbow dislocation, Metatarsus adductus, Camptodactyly, Cub...	ORPHA:2804
Robinow Syndrome, Autosomal Recessive 2	Broad hallux, Sandal gap, Mesomelia, Camptodactyly, Prominent fingertip pads, Clinodactyly, Broad...	OMIM:618529
Plaa-Associated Neurodevelopmental Disorder	Impaired oropharyngeal swallow response, Exaggerated startle response, Failure to thrive, Dystonia	ORPHA:521426
Braddock-Carey Syndrome 2	Clinodactyly, Microcephaly	OMIM:619981
Glycine Encephalopathy With Normal Serum Glycine	Exaggerated startle response, Dysphagia	OMIM:617301
Asparagine Synthetase Deficiency	Tremor, Irritability, Exaggerated startle response, Failure to thrive	OMIM:615574
Robinow Syndrome, Autosomal Recessive 1	Short palm, Duplication of the distal phalanx of hand, Dislocated radial head, Radial bowing, Mes...	OMIM:268310
Xq21 Microdeletion Syndrome	Dysdiadochokinesis, Ataxia, Obesity, Gait ataxia	ORPHA:1435
Maternal Phenylketonuria	Hyperactivity, Bifid distal phalanx of the thumb, Microcephaly, Hypoplasia of the corpus callosum...	ORPHA:2209
Mody	Overweight, Obesity, Large for gestational age	ORPHA:552
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type	Hyperactivity, Small for gestational age, Overlapping toe, Microcephaly, Tapered finger, Small ha...	OMIM:309590
Autoimmune Disease, Multisystem, With Facial Dysmorphism	Hallux valgus, Failure to thrive in infancy, Single transverse palmar crease, Slender long bone, ...	OMIM:613385
Craniopharyngioma	Hydrocephalus, Cerebral calcification, Polyphagia, Obesity	ORPHA:54595
Webb-Dattani Syndrome	Secondary microcephaly, Obesity, Hypoplasia of the corpus callosum, Hip dislocation	OMIM:615926
Williams Syndrome	Tremor, Dysmetria, Compulsive behaviors, Clinodactyly of the 5th finger, Spina bifida occulta, Ab...	ORPHA:904
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Tapered finger, Microcephaly, Coxa valga, Cerebral atrophy, Talipes equinovarus, Radial deviation...	OMIM:301040
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7	Syndactyly, Narrow joint spaces of the elbow, Small for gestational age, Clinodactyly of the 5th ...	ORPHA:96182
Kabuki Syndrome	Microcephaly, Hydrocephalus, Small hand, Obesity, Hip dislocation, Short middle phalanx of finger...	ORPHA:2322
Abdominal Obesity-Metabolic Syndrome 4	Obesity	OMIM:618620
Narcolepsy 7	Obesity	OMIM:614250
Short Syndrome	Enlarged epiphyses, Small for gestational age, Slender long bone, Radial deviation of finger, Cli...	OMIM:269880
Hyperekplexia 2	Exaggerated startle response	OMIM:614619
Yunis-Varon Syndrome	Congenital hip dislocation, Single transverse palmar crease, Short metatarsal, Palmoplantar hyper...	OMIM:216340
Floating-Harbor Syndrome	Restlessness, Broad-based gait, Short attention span, Small for gestational age, Short metacarpal...	ORPHA:2044
Meier-Gorlin Syndrome 5	Microcephaly, Elbow dislocation, Irregular femoral epiphysis, Patellar aplasia, Slender long bone...	OMIM:613805
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects	Broad hallux, 1-2 toe syndactyly, Microcephaly, Tapered finger, Small hand, Short foot, Hip dyspl...	OMIM:301044
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, Genital Anomalies, And Immunodeficiency	Metaphyseal dysplasia, Clinodactyly, Microcephaly, Decreased body weight	OMIM:618336
Hyperekplexia 3	Exaggerated startle response	OMIM:614618
Cornelia De Lange Syndrome	Toe syndactyly, Abnormal morphology of ulna, Micromelia, Microcephaly, Proximal placement of thum...	ORPHA:199
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Brachydactyly, Mesoaxial foot polydactyly, Overlapping toe, Single transverse palmar crease, Broa...	OMIM:612474
Generalized Pustular Psoriasis	Overweight, Obesity	ORPHA:247353
Sandifer Syndrome	Abnormal posturing, Torticollis	ORPHA:71272
Low Phospholipid-Associated Cholelithiasis	Overweight, Obesity	ORPHA:69663
Microcephaly 29, Primary, Autosomal Recessive	Hyperactivity, Ataxia, Simplified gyral pattern, Primary microcephaly, Emotional lability	OMIM:620047
Hyperphosphatasia-Intellectual Disability Syndrome	Ataxia, Shortening of all distal phalanges of the fingers, Hip dysplasia, Gait disturbance, Clino...	ORPHA:247262
Atelis Syndrome 2	Single transverse palmar crease, Microcephaly, Dysmetria, Attention deficit hyperactivity disorde...	OMIM:620185
Chops Syndrome	Brachydactyly, Obesity, Microcephaly	OMIM:616368
Oculodentodigital Dysplasia	Ataxia, Microcephaly, Basal ganglia calcification, 4-5 finger syndactyly, Hip dislocation, Abnorm...	OMIM:164200
Combined Oxidative Phosphorylation Deficiency 53	Dysplastic corpus callosum, Failure to thrive, Secondary microcephaly	OMIM:619423
Peripartum Cardiomyopathy	Obesity	ORPHA:563
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Hallux valgus, Ataxia, Impulsivity, Aggressive behavior, Tremor, Dysplastic corpus callosum, Thic...	OMIM:300967
Ring Chromosome 12 Syndrome	Syndactyly, Small for gestational age, Microcephaly, Abnormal 5th finger morphology, Symphalangis...	ORPHA:1439
Nephrotic Syndrome, Type 11	Clinodactyly, Partial duplication of thumb phalanx, Arachnodactyly	OMIM:616730
Retinal Dystrophy With Or Without Macular Staphyloma	Truncal obesity	OMIM:617547
Robinow Syndrome, Autosomal Dominant 2	Brachydactyly, Partial duplication of thumb phalanx, Partial duplication of the phalanx of hand, ...	OMIM:616331
Carpenter Syndrome 2	Short digit, Single transverse palmar crease, Postaxial polydactyly, Preaxial polydactyly, Obesit...	OMIM:614976
Ruijs-Aalfs Syndrome	Down-sloping shoulders, Single transverse palmar crease, Elbow flexion contracture, Decreased bod...	OMIM:616200
Brachyolmia Type 3	Clinodactyly, Proximal femoral metaphyseal irregularity, Short femoral neck, Radial deviation of ...	OMIM:113500
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome	Obesity	ORPHA:2235
Noonan Syndrome 14	Scapular winging, Lateral ventricle dilatation, Deep palmar crease, Cubitus valgus, Clinodactyly,...	OMIM:619745
Oslam Syndrome	Clinodactyly, Radioulnar synostosis, Radial deviation of finger	OMIM:165660
Neu-Laxova Syndrome 1	Finger syndactyly, Toe syndactyly, Rocker bottom foot, Spina bifida, Micromelia, Long fingers, Ca...	OMIM:256520
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities	Tremor, Exaggerated startle response	OMIM:620327
Cushing Disease	Increased body weight, Depression, Memory impairment, Truncal obesity, Abdominal obesity, Dementi...	ORPHA:96253
Odontochondrodysplasia 2 With Hearing Loss And Diabetes	Short toe, Obesity, Cone-shaped epiphyses of the phalanges of the hand, Clinodactyly of the 5th f...	OMIM:619269
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome	Dysplastic corpus callosum, Overlapping toe, Camptodactyly	ORPHA:363444
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type	Short lower limbs, Avascular necrosis of the capital femoral epiphysis, Upper limb undergrowth, C...	ORPHA:93315
Meckel Syndrome, Type 1	Occipital encephalocele, Bowing of the long bones, Syndactyly, Camptodactyly of finger, Postaxial...	OMIM:249000
Bardet-Biedl Syndrome 20	Postaxial polydactyly, Postaxial hand polydactyly, Obesity, 2-3 toe syndactyly, Preaxial foot pol...	OMIM:619471
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination	Irritability, Exaggerated startle response, Dysphagia	OMIM:618367
Toriello-Carey Syndrome	Brachydactyly, Microcephaly, Partial agenesis of the corpus callosum, Cerebral atrophy, Hypoplasi...	ORPHA:3338
Mosaic Variegated Aneuploidy Syndrome 2	Small for gestational age, Single transverse palmar crease, Rhizomelia, Microcephaly, Clinodactyl...	OMIM:614114
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Slender long bone, Upper limb undergrowth, Obesity	ORPHA:369837
Ohdo Syndrome, X-Linked	Ulnar deviation of the hand, Overlapping toe, Short thumb, Hip dysplasia, Decreased body weight, ...	OMIM:300895
Hypogonadotropic Hypogonadism 9 With Or Without Anosmia	Clinodactyly	OMIM:614838
Congenital Analbuminemia	Small for gestational age, Obesity	ORPHA:86816
Sudden Infant Death With Dysgenesis Of The Testes Syndrome	Exaggerated startle response	OMIM:608800
Hyperekplexia 1	Exaggerated startle response	OMIM:149400
Sandhoff Disease, Infantile Form	Exaggerated startle response	ORPHA:309155
Khan-Khan-Katsanis Syndrome	Postaxial polydactyly, Microcephaly, Colpocephaly, Dysphagia, Clinodactyly, Failure to thrive	OMIM:618460
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures	Short attention span, Short metacarpal, Brachydactyly, Microcephaly, Short metatarsal, Obesity, C...	OMIM:617157
Alstrom Syndrome	Truncal obesity, Abnormality of the hand	OMIM:203800
Wiedemann-Rautenstrauch Syndrome	Long toe, Short humerus, Short femur, Small for gestational age, Hypoplastic ilia, Long fingers, ...	OMIM:264090
Congenital Myopathy 17	Overlapping toe, Failure to thrive in infancy, Tapered finger, Hand clenching, Overlapping finger...	OMIM:618975
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies	Brachydactyly, Sandal gap, Broad hallux, Clinodactyly, 3-4 toe syndactyly	OMIM:618727
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency	Obesity	ORPHA:209902
Abdominal Obesity-Metabolic Syndrome 3	Truncal obesity, Abdominal obesity	OMIM:615812
Thyrotoxic Periodic Paralysis	Tremor, Obesity, Weight loss	ORPHA:79102
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism	Clinodactyly, Short distal phalanx of finger, Microcephaly	OMIM:615866
Microcephaly, Epilepsy, And Diabetes Syndrome 1	Simplified gyral pattern, Obesity, Hypoplasia of the corpus callosum, Primary microcephaly	OMIM:614231
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal	Dysplastic corpus callosum	OMIM:618810
Nablus Mask-Like Facial Syndrome	Sandal gap, Single transverse palmar crease, Short hallux, Tapered finger, Secondary microcephaly...	OMIM:608156
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Microcephaly, Small hand, Obesity, Fibular hypoplasia, Hypoplasia of proximal radius, Hip subluxa...	ORPHA:444077
Retinitis Pigmentosa 74	Obesity	OMIM:616562
Primrose Syndrome	Restlessness, Hip contracture, Cerebral calcification, Ataxia, Aggressive behavior, Metatarsus ad...	OMIM:259050
Histiocytosis-Lymphadenopathy Plus Syndrome	Hallux valgus, Rocker bottom foot, Camptodactyly of finger, Elbow flexion contracture, Joint cont...	OMIM:602782
Cranioectodermal Dysplasia 1	Broad toe, Brachydactyly, Short humerus, Rhizomelia, Single transverse palmar crease, Broad dista...	OMIM:218330
Dysbetalipoproteinemia	Obesity	ORPHA:412
Robinow Syndrome, Autosomal Dominant 3	Syndactyly, Mesomelia, Camptodactyly, Clinodactyly, Short phalanx of finger, Broad thumb, Brachyd...	OMIM:616894
Sheehan Syndrome	Obesity	ORPHA:91355
Gm1 Gangliosidosis Type 1	Exaggerated startle response, Dystonia	ORPHA:79255
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome	Overlapping toe, Proximal placement of thumb, Tapered finger, Microcephaly, Clinodactyly, Hypopla...	ORPHA:487796
Aromatase Deficiency	Eunuchoid habitus, Obesity, Tall stature	ORPHA:91
Williams-Beuren Syndrome	Hallux valgus, Short attention span, Failure to thrive in infancy, Down-sloping shoulders, Obesit...	OMIM:194050
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Failure to thrive in infancy, Arachnodactyly, Absent thumb, Dysplastic corpus callosum, Simplifie...	ORPHA:500150
Otofaciocervical Syndrome 2, With T-Cell Deficiency	Clinodactyly, Scapular winging, Down-sloping shoulders, Tapered finger	OMIM:615560
Chronic Thromboembolic Pulmonary Hypertension	Obesity, Depression	ORPHA:70591
Cushing Syndrome Due To Ectopic Acth Secretion	Anorexia, Increased body weight, Weight loss, Depression, Truncal obesity, Abdominal obesity, Mem...	ORPHA:99889
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency	Clinodactyly, Failure to thrive in infancy, Camptodactyly	ORPHA:228426
Neutral Lipid Storage Myopathy	Obesity, Difficulty walking	ORPHA:98908
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Exaggerated startle response	OMIM:253800
Esophageal Atresia	Small for gestational age, Failure to thrive in infancy, Dysphagia, Oral aversion, Clinodactyly	ORPHA:1199
45,X/46,Xy Mixed Gonadal Dysgenesis	Hallux valgus, Short metatarsal, Obesity, Cubitus valgus, Short 4th metacarpal	ORPHA:1772
Robinow Syndrome, Autosomal Dominant 1	Limited elbow extension and supination, Brachydactyly, Broad toe, Rhizomelia, Small hand, Mesomel...	OMIM:180700
Gaisböck Syndrome	Overweight, Obesity	ORPHA:90041
Mosaic Trisomy 16	Syndactyly, Small for gestational age, Single transverse palmar crease, Short thumb, Short femora...	ORPHA:1708
Zttk Syndrome	Failure to thrive, Dysplastic corpus callosum, Small hand, Short foot, Abnormal cerebral white ma...	OMIM:617140
Lacrimoauriculodentodigital Syndrome	Syndactyly, Finger syndactyly, Toe syndactyly, Duplication of thumb phalanx, Absent thumb, Abnorm...	ORPHA:2363
Bloom Syndrome	Abdominal obesity, Small for gestational age	ORPHA:125
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Single transverse palmar crease, Microcephaly, Clinodactyly, Failure to thrive, Broad thumb	OMIM:612541
Digeorge Syndrome	Obesity, Attention deficit hyperactivity disorder	OMIM:188400
3Mc Syndrome 3	Radioulnar synostosis, Clinodactyly, Preaxial polydactyly	OMIM:248340
Cranioectodermal Dysplasia 2	Syndactyly, Rhizomelia, Postaxial hand polydactyly, Polydactyly, Mesomelia, Clinodactyly, Brachyd...	OMIM:613610
Chromosome 1P36 Deletion Syndrome, Proximal	Clinodactyly, Failure to thrive, Camptodactyly, Microcephaly	OMIM:619343
Ectodermal Dysplasia, Sensorineural Hearing Loss, And Distinctive Facial Features	Clinodactyly, Radial deviation of finger	OMIM:609944
Down Syndrome	Sandal gap, Single transverse palmar crease, Hypoplastic iliac wing, Broad palm, Short palm, Shor...	OMIM:190685
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities	Exaggerated startle response, Abnormal repetitive mannerisms, Attention deficit hyperactivity dis...	OMIM:619522
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Abdominal obesity, Genu valgum, Hydrocephalus, Microcephaly	OMIM:619321
Pallister-Killian Syndrome	Congenital hip dislocation, Rhizomelia, Single transverse palmar crease, Mesomelic/rhizomelic lim...	OMIM:601803
Roberts-Sc Phocomelia Syndrome	Syndactyly, Hypoplasia of the ulna, Short humerus, Microcephaly, Aplasia of the ulna, Absent thum...	OMIM:268300
Lysinuric Protein Intolerance	Truncal obesity, Failure to thrive	OMIM:222700
Beckwith-Wiedemann Syndrome	Obesity, Tall stature, Large for gestational age	ORPHA:116
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Broad-based gait, Exaggerated startle response, Dystonia, Inability to walk, Dysphagia, Stereotyp...	ORPHA:438213
Cardiac, Facial, And Digital Anomalies With Developmental Delay	Clinodactyly, Cerebral atrophy	OMIM:618164
Tako-Tsubo Cardiomyopathy	Obesity	ORPHA:66529
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Clinodactyly, Broad hallux, Single transverse palmar crease	OMIM:620186
Mosaic Trisomy 20	Clinodactyly, Down-sloping shoulders, Limited pronation/supination of forearm	ORPHA:1724
Noonan Syndrome 1	Failure to thrive in infancy, Radial deviation of finger, Cubitus valgus, Clinodactyly, Brachydac...	OMIM:163950
Microphthalmia, Syndromic 1	Syndactyly, Abnormal palmar dermatoglyphics, Down-sloping shoulders, Aggressive behavior, Microce...	OMIM:309800
Craniosynostosis And Dental Anomalies	Hallux valgus, Broad hallux, 2-3 toe syndactyly, Clinodactyly, Short phalanx of finger	OMIM:614188
Alström Syndrome	Somatic sensory dysfunction, Ataxia, Obesity, Truncal obesity, Cognitive impairment, Polyphagia	ORPHA:64
Carney Complex	Abdominal obesity, Increased body weight, Tall stature	ORPHA:1359

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 Myt1l

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 Myt1l.

There are 5 publications which use IMPC produced mice or data.

Title	Journal	IMPC Allele	PubMed ID
Postnatal age-differential ASD-like transcriptomic, synaptic, and behavioral deficits in Myt1l-mutant mice.	Cell reports (September 2022)	Myt1l^{tm1a(EUCOMM)Wtsi}	36130507
A Genome-Wide Screen in Mice To Identify Cell-Extrinsic Regulators of Pulmonary Metastatic Colonisation.	G3 (Bethesda, Md.) (June 2020)	Myt1l^{tm1a(EUCOMM)Wtsi}	PMC7263671
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis.	Nature communications (August 2019)	Myt1l^{tm1a(EUCOMM)Wtsi}	PMC6671969
Mouse screen reveals multiple new genes underlying mouse and human hearing loss.	PLoS biology (April 2019)	Myt1l^{tm1a(EUCOMM)Wtsi}	PMC6459510
Genome wide in vivo mouse screen data from studies to assess host regulation of metastatic colonisation.	Scientific data (September 2017)	Myt1l^{tm1a(EUCOMM)Wtsi}	PMC5827107

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MGI Allele	Allele Type	Produced
Myt1l^{tm1e(EUCOMM)Wtsi}	Targeted, non-conditional allele	ES Cells
Myt1l^{tm1a(EUCOMM)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Mice, Targeting vectors, ES Cells

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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Gene: Myt1l MGI:1100511

Gene Summary

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Phenotypes

lacZ Expression

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Legacy Phenotype Associated Images

Human diseases caused by Myt1l mutations

Histopathology

IMPC related publications

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