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 |
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Ataxia, Microcephaly, Inability to walk, Perisylvian polymicrogyria, Unsteady gait, Obesity, Cere... |
OMIM:618443 |
Laurence-Moon Syndrome |
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Ataxia, Obesity |
OMIM:245800 |
Prader-Willi Syndrome Due To Imprinting Mutation |
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Narrow palm, Obesity, Small hand, Short foot, Abnormal ulnar metaphysis morphology, Polyphagia |
ORPHA:177910 |
Rafiq Syndrome |
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Truncal obesity, Ataxia, Obesity, Aggressive behavior |
OMIM:614202 |
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation |
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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 |
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Impulsivity, Increased body weight, Hand tremor, Gait disturbance, Attention deficit hyperactivit... |
ORPHA:589905 |
Angelman Syndrome |
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Hyperactivity, Broad-based gait, Ataxia, Limb tremor, Obesity, Progressive gait ataxia, Paroxysma... |
OMIM:105830 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type |
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Hyperactivity, Impulsivity, Periventricular white matter hyperintensities, Attention deficit hype... |
OMIM:301008 |
Congenital-Onset Steinert Myotonic Dystrophy |
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Bradyphrenia, Short attention span, Hyperactivity, Obesity, Dysphagia, Decreased body weight |
ORPHA:589821 |
Proximal 16P11.2 Microdeletion Syndrome |
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Obesity, Choreoathetosis, Attention deficit hyperactivity disorder, Dystonia, Impaired social int... |
ORPHA:261197 |
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities |
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Severe temper tantrums, Obesity, Stereotypical hand wringing |
OMIM:619854 |
Intellectual Developmental Disorder, Autosomal Dominant 7 |
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Hallux valgus, Hyperactivity, Small for gestational age, Failure to thrive in infancy, Ataxia, Mi... |
OMIM:614104 |
2Q23.1 Microdeletion Syndrome |
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Hyperactivity, Ataxia, Sandal gap, Microcephaly, Polyphagia, Self-injurious behavior, Hip dysplas... |
ORPHA:228402 |
Xq27.3Q28 Duplication Syndrome |
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Short foot, Truncal obesity, Failure to thrive, Small hand |
ORPHA:261483 |
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities |
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Short attention span, Exaggerated startle response, Inability to walk, Chorea, Irritability, Fail... |
OMIM:617864 |
Stiff Person Spectrum Disorder |
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Emotional lability, Exaggerated startle response, Falls, Difficulty walking |
ORPHA:3198 |
Phenylketonuria |
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Hyperactivity, Cerebral calcification, Microcephaly, Aggressive behavior, Depression, Irritabilit... |
OMIM:261600 |
Short Stature Due To Primary Acid-Labile Subunit Deficiency |
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Truncal obesity |
ORPHA:140941 |
Lamb-Shaffer Syndrome |
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Long fingers, Clinodactyly, Overlapping toe, Long hallux |
OMIM:616803 |
X-Linked Intellectual Disability, Cabezas Type |
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Hyperactivity, Broad-based gait, Toe syndactyly, Sandal gap, Cachexia, Aggressive behavior, Micro... |
ORPHA:85293 |
Acrodysostosis 2 With Or Without Hormone Resistance |
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Short metacarpal, Hyperactivity, Short metatarsal, Obesity, Advanced ossification of carpal bones... |
OMIM:614613 |
Dystonia 1, Torsion, Autosomal Dominant |
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Torticollis, Generalized dystonia, Writer's cramp, Tremor, Inability to walk, Torsion dystonia, D... |
OMIM:128100 |
Usmani-Riazuddin Syndrome, Autosomal Dominant |
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Hyperactivity, Aggressive behavior, 2-3 toe syndactyly, Depression, Self-injurious behavior, Comp... |
OMIM:619467 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 2 |
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Resting tremor, Dystonia, Ataxia, Aggressive behavior, Tremor, Gait apraxia, Cerebral atrophy, Dy... |
OMIM:615157 |
Idiopathic Intracranial Hypertension |
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Abnormal emotion, Obesity, Depression |
ORPHA:238624 |
Neurodevelopmental Disorder With Speech Impairment And Dysmorphic Facies |
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Short attention span, Obesity, Aggressive behavior |
OMIM:619056 |
Muenke Syndrome |
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Broad hallux, Capitate-hamate fusion, Cone-shaped epiphyses of the phalanges of the hand, Short m... |
OMIM:602849 |
Laurence-Moon Syndrome |
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Finger syndactyly, Ataxia, Bilateral single transverse palmar creases, Obesity, Hand polydactyly,... |
ORPHA:2377 |
Impaired Intellectual Development, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome |
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Truncal obesity, Childhood-onset truncal obesity |
OMIM:610156 |
Intellectual Developmental Disorder, Autosomal Dominant 56 |
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Bradyphrenia, Short attention span, Broad-based gait, Dystonia, Ataxia, Impulsivity, Inability to... |
OMIM:617854 |
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome |
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Truncal obesity, Gait disturbance |
ORPHA:2429 |
Bardet-Biedl Syndrome 4 |
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Syndactyly, Polydactyly, Obesity, Brachydactyly |
OMIM:615982 |
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome |
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Camptodactyly of finger, Micromelia, Ulnar deviation of finger, Truncal obesity, Abnormal pelvic ... |
ORPHA:2928 |
Autosomal Recessive Spastic Paraplegia Type 11 |
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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 |
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Short attention span, Hyperactivity, Small for gestational age, Single transverse palmar crease, ... |
ORPHA:73272 |
Leukodystrophy, Hypomyelinating, 13 |
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Irritability, Exaggerated startle response, Failure to thrive, Ataxia |
OMIM:616881 |
13Q12.3 Microdeletion Syndrome |
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Hyperactivity, Impaired pain sensation, Obesity, Failure to thrive, Self-mutilation |
ORPHA:412035 |
Zimmermann-Laband Syndrome 3 |
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Aplasia of the distal phalanx of the 5th toe, Absent distal phalanx of the 2nd toe, Absent distal... |
OMIM:618658 |
Cortisone Reductase Deficiency 2 |
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Obesity |
OMIM:614662 |
Bardet-Biedl Syndrome 19 |
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Mesoaxial hand polydactyly, Postaxial polydactyly, Obesity, Postaxial foot polydactyly, Hypoplasi... |
OMIM:615996 |
Temple Syndrome |
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Small for gestational age, Overweight, Hydrocephalus, Small hand, Obesity, Short foot, Truncal ob... |
OMIM:616222 |
Wilson-Turner Syndrome |
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Emotional lability, Truncal obesity |
ORPHA:3459 |
Distal 16P11.2 Microdeletion Syndrome |
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Obesity, Attention deficit hyperactivity disorder |
ORPHA:261222 |
Rhizomelic Limb Shortening With Dysmorphic Features |
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Hyperextensibility of the finger joints, Rhizomelia, Single transverse palmar crease, Short thumb... |
OMIM:618821 |
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome |
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Bowing of the long bones, Toe syndactyly, Hydrocephalus, Obesity, Cerebral atrophy, Abnormal sept... |
ORPHA:171839 |
Angelman Syndrome |
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Hyperactivity, Broad-based gait, Ataxia, Cerebral dysmyelination, Microcephaly, Aggressive behavi... |
ORPHA:72 |
Perrault Syndrome 4 |
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Disproportionate tall stature, Obesity, Cognitive impairment, Gait ataxia |
OMIM:615300 |
Chromosome 15Q11.2 Deletion Syndrome |
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Swan neck-like deformities of the fingers, Ataxia, Single transverse palmar crease, Arachnodactyl... |
OMIM:615656 |
Luscan-Lumish Syndrome |
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Shyness, Aggressive behavior, Obesity, Overgrowth, Polyphagia |
OMIM:616831 |
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities |
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Syndactyly, Ataxia, Arachnodactyly, Microcephaly, Tremor, Gait ataxia, Clinodactyly, Abnormal rep... |
OMIM:619092 |
Hiatt-Neu-Cooper Neurodevelopmental Syndrome |
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Clinodactyly, 2-3 toe syndactyly |
OMIM:619311 |
2Q37 Microdeletion Syndrome |
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Short palm, Finger syndactyly, Short metacarpal, Toe syndactyly, Brachydactyly, Microcephaly, Sma... |
ORPHA:1001 |
Smith-Magenis Syndrome |
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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 |
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Hyperactivity, Dystonia, Impulsivity, Microcephaly, Aggressive behavior, Inability to walk, Cereb... |
ORPHA:500180 |
Carpenter Syndrome |
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Syndactyly, Finger syndactyly, Toe syndactyly, Postaxial hand polydactyly, Obesity, Genu valgum, ... |
ORPHA:65759 |
Neurodevelopmental Disorder With Microcephaly, Impaired Language, And Gait Abnormalities |
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Syndactyly, Microcephaly, Hypoplasia of the corpus callosum, Cerebral white matter hypoplasia, Cl... |
OMIM:619091 |
White-Sutton Syndrome |
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Waddling gait, Hyperactivity, Brachydactyly, Microcephaly, Aggressive behavior, Obesity, Cerebral... |
OMIM:616364 |
Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities |
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Short attention span, Hyperactivity, Aggressive behavior, Dysphoria, 2-3 toe cutaneous syndactyly... |
OMIM:620242 |
Biemond Syndrome Type 2 |
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Hydrocephalus, Preaxial polydactyly, Obesity |
ORPHA:141333 |
Carpenter Syndrome 1 |
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Duplication of the proximal phalanx of the hallux, Clinodactyly of the 5th finger, Spina bifida o... |
OMIM:201000 |
Cln5 Disease |
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Hyperactivity, Ataxia, Aggressive behavior, Corpus callosum atrophy, Inability to walk, Tremor, U... |
ORPHA:228360 |
19P13.12 Microdeletion Syndrome |
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Finger syndactyly, Hyperactivity, Toe clinodactyly, Sandal gap, Microcephaly, Obesity, Self-injur... |
ORPHA:254346 |
Aromatic L-Amino Acid Decarboxylase Deficiency |
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Torticollis, Exaggerated startle response, Oculogyric crisis, Tongue thrusting, Limb tremor, Chor... |
OMIM:608643 |
Acth-Independent Macronodular Adrenal Hyperplasia |
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Depression, Truncal obesity, Agitation, Mental deterioration, Emotional lability |
OMIM:219080 |
X-Linked Intellectual Disability, Van Esch Type |
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Microcephaly, Attention deficit hyperactivity disorder, Impaired social interactions, Clinodactyl... |
ORPHA:163976 |
Pontocerebellar Hypoplasia Type 2 |
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Paroxysmal dystonia, Abnormal cortical gyration, Oral-pharyngeal dysphagia, Dysplastic corpus cal... |
ORPHA:2524 |
X-Linked Intellectual Disability-Cubitus Valgus-Dysmorphism Syndrome |
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Tapered finger, Microcephaly, Truncal obesity, Cubitus valgus, Bilateral single transverse palmar... |
ORPHA:85280 |
Split-Hand/Foot Malformation 1 |
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Syndactyly, Broad hallux, Split hand, Hand oligodactyly, Split foot, Foot oligodactyly, Ectrodact... |
OMIM:183600 |
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome |
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Short attention span, Single transverse palmar crease, Overweight, Repetitive compulsive behavior... |
ORPHA:391372 |
Hypomelanosis Of Ito |
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Syndactyly, Microcephaly, Cerebral atrophy, Gray matter heterotopia, Hand polydactyly, Radial dev... |
OMIM:300337 |
Pigmented Nodular Adrenocortical Disease, Primary, 2 |
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Depression, Truncal obesity, Agitation, Mental deterioration, Emotional lability |
OMIM:610475 |
Boudin-Mortier Syndrome |
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Long toe, Mallet finger, Arachnodactyly, Long fingers, Pseudoepiphyses of the proximal phalanges ... |
OMIM:619543 |
Bardet-Biedl Syndrome 17 |
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Mesoaxial polydactyly, Short fourth metatarsal, Mesoaxial hand polydactyly, Postaxial hand polyda... |
OMIM:615994 |
Temple Syndrome Due To Paternal 14Q32.2 Microdeletion |
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Acromicria, Small hand, Obesity, Short foot, Clinodactyly |
ORPHA:254525 |
Chromosome Xq13 Duplication Syndrome |
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Hyperactivity, Aggressive behavior, Metatarsus adductus, Hip dysplasia, Diminished ability to con... |
OMIM:301069 |
Prader-Willi Syndrome Due To Translocation |
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Overlapping toe, Microcephaly, Clinodactyly, Small hand, Obesity, Head-banging, Short foot, Later... |
ORPHA:177907 |
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome |
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Hyperextensibility of the finger joints, Metatarsus adductus, Short toe, Unsteady gait, 4-5 toe s... |
ORPHA:3041 |
15Q24 Microdeletion Syndrome |
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Small for gestational age, Proximal placement of thumb, Microcephaly, Abnormal thumb morphology, ... |
ORPHA:94065 |
Ankylosing Vertebral Hyperostosis With Tylosis |
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Obesity |
ORPHA:2206 |
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis |
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Hip contracture, Coxa valga, Obesity, Flattened epiphysis, Advanced ossification of carpal bones,... |
OMIM:618363 |
Myoclonic-Astatic Epilepsy |
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Syndactyly, Hyperactivity, Ataxia, Microcephaly, Tremor, Unsteady gait, Abnormal emotion, Impaire... |
ORPHA:1942 |
Lissencephaly Due To Tuba1A Mutation |
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Agyria, Microcephaly, Hypoplastic anterior limbs of the internal capsule, Dysplastic corpus callo... |
ORPHA:171680 |
Adiposis Dolorosa |
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Memory impairment, Paresthesia, Obesity, Depression |
ORPHA:36397 |
Periventricular Nodular Heterotopia 1 |
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Syndactyly, Abnormality of neuronal migration, Gray matter heterotopia, Hypoplasia of the corpus ... |
OMIM:300049 |
Fg Syndrome Type 1 |
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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 |
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Disproportionate tall stature, Abdominal obesity, Attention deficit hyperactivity disorder, Aggre... |
OMIM:301039 |
Man1B1-Cdg |
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Resting tremor, Broad-based gait, Periventricular heterotopia, 2-3 toe syndactyly, Truncal obesit... |
ORPHA:397941 |
Trisomy 5P |
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Obesity, Abnormal metacarpal morphology |
ORPHA:1742 |
Microduplication Xp11.22P11.23 Syndrome |
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Obesity |
ORPHA:217377 |
Pitt-Hopkins-Like Syndrome 1 |
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Hyperactivity, Ataxia, Aggressive behavior, Cortical dysplasia, Progressive language deterioratio... |
OMIM:610042 |
Frontonasal Dysplasia 1 |
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Pericallosal lipoma, Postaxial hand polydactyly, Anterior basal encephalocele, Pectoral muscle hy... |
OMIM:136760 |
Hydrocephalus-Obesity-Hypogonadism Syndrome |
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Cubitus valgus, Hydrocephalus, Short 4th metacarpal, Obesity |
ORPHA:2183 |
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skin Abnormalities |
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Pica, Obesity, Ataxia, Aggressive behavior |
OMIM:620191 |
Morbid Obesity And Spermatogenic Failure |
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Obesity |
OMIM:615703 |
Intellectual Developmental Disorder, Autosomal Recessive 38 |
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Hyperactivity, Sandal gap, Aggressive behavior, Unsteady gait, Diminished ability to concentrate,... |
OMIM:615516 |
Pseudopseudohypoparathyroidism |
|
Obesity, Cognitive impairment |
OMIM:612463 |
Xp22.13P22.2 Duplication Syndrome |
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Tapered finger, Microcephaly, Small hand, 2-3 toe syndactyly, Truncal obesity, Attention deficit ... |
ORPHA:284180 |
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
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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 |
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Obesity |
OMIM:614845 |
Kdm5C-Related Syndromic X-Linked Intellectual Disability |
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Camptodactyly of finger, Tapered finger, Aggressive behavior, Microcephaly, Talipes equinovarus, ... |
ORPHA:85279 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type |
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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 |
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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 |
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Restlessness, Broad-based gait, Short attention span, Small for gestational age, Short metacarpal... |
ORPHA:2044 |
Meier-Gorlin Syndrome 5 |
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Microcephaly, Elbow dislocation, Irregular femoral epiphysis, Patellar aplasia, Slender long bone... |
OMIM:613805 |
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects |
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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 |
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Metaphyseal dysplasia, Clinodactyly, Microcephaly, Decreased body weight |
OMIM:618336 |
Hyperekplexia 3 |
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Exaggerated startle response |
OMIM:614618 |
Cornelia De Lange Syndrome |
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Toe syndactyly, Abnormal morphology of ulna, Micromelia, Microcephaly, Proximal placement of thum... |
ORPHA:199 |
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
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Brachydactyly, Mesoaxial foot polydactyly, Overlapping toe, Single transverse palmar crease, Broa... |
OMIM:612474 |
Generalized Pustular Psoriasis |
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Overweight, Obesity |
ORPHA:247353 |
Sandifer Syndrome |
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Abnormal posturing, Torticollis |
ORPHA:71272 |
Low Phospholipid-Associated Cholelithiasis |
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Overweight, Obesity |
ORPHA:69663 |
Microcephaly 29, Primary, Autosomal Recessive |
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Hyperactivity, Ataxia, Simplified gyral pattern, Primary microcephaly, Emotional lability |
OMIM:620047 |
Hyperphosphatasia-Intellectual Disability Syndrome |
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Ataxia, Shortening of all distal phalanges of the fingers, Hip dysplasia, Gait disturbance, Clino... |
ORPHA:247262 |
Atelis Syndrome 2 |
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Single transverse palmar crease, Microcephaly, Dysmetria, Attention deficit hyperactivity disorde... |
OMIM:620185 |
Chops Syndrome |
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Brachydactyly, Obesity, Microcephaly |
OMIM:616368 |
Oculodentodigital Dysplasia |
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Ataxia, Microcephaly, Basal ganglia calcification, 4-5 finger syndactyly, Hip dislocation, Abnorm... |
OMIM:164200 |
Combined Oxidative Phosphorylation Deficiency 53 |
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Dysplastic corpus callosum, Failure to thrive, Secondary microcephaly |
OMIM:619423 |
Peripartum Cardiomyopathy |
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Obesity |
ORPHA:563 |
Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
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Hallux valgus, Ataxia, Impulsivity, Aggressive behavior, Tremor, Dysplastic corpus callosum, Thic... |
OMIM:300967 |
Ring Chromosome 12 Syndrome |
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Syndactyly, Small for gestational age, Microcephaly, Abnormal 5th finger morphology, Symphalangis... |
ORPHA:1439 |
Nephrotic Syndrome, Type 11 |
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Clinodactyly, Partial duplication of thumb phalanx, Arachnodactyly |
OMIM:616730 |
Retinal Dystrophy With Or Without Macular Staphyloma |
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Truncal obesity |
OMIM:617547 |
Robinow Syndrome, Autosomal Dominant 2 |
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Brachydactyly, Partial duplication of thumb phalanx, Partial duplication of the phalanx of hand, ... |
OMIM:616331 |
Carpenter Syndrome 2 |
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Short digit, Single transverse palmar crease, Postaxial polydactyly, Preaxial polydactyly, Obesit... |
OMIM:614976 |
Ruijs-Aalfs Syndrome |
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Down-sloping shoulders, Single transverse palmar crease, Elbow flexion contracture, Decreased bod... |
OMIM:616200 |
Brachyolmia Type 3 |
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Clinodactyly, Proximal femoral metaphyseal irregularity, Short femoral neck, Radial deviation of ... |
OMIM:113500 |
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome |
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Obesity |
ORPHA:2235 |
Noonan Syndrome 14 |
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Scapular winging, Lateral ventricle dilatation, Deep palmar crease, Cubitus valgus, Clinodactyly,... |
OMIM:619745 |
Oslam Syndrome |
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Clinodactyly, Radioulnar synostosis, Radial deviation of finger |
OMIM:165660 |
Neu-Laxova Syndrome 1 |
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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 |
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Tremor, Exaggerated startle response |
OMIM:620327 |
Cushing Disease |
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Increased body weight, Depression, Memory impairment, Truncal obesity, Abdominal obesity, Dementi... |
ORPHA:96253 |
Odontochondrodysplasia 2 With Hearing Loss And Diabetes |
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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 |
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Dysplastic corpus callosum, Overlapping toe, Camptodactyly |
ORPHA:363444 |
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type |
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Short lower limbs, Avascular necrosis of the capital femoral epiphysis, Upper limb undergrowth, C... |
ORPHA:93315 |
Meckel Syndrome, Type 1 |
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Occipital encephalocele, Bowing of the long bones, Syndactyly, Camptodactyly of finger, Postaxial... |
OMIM:249000 |
Bardet-Biedl Syndrome 20 |
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Postaxial polydactyly, Postaxial hand polydactyly, Obesity, 2-3 toe syndactyly, Preaxial foot pol... |
OMIM:619471 |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination |
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Irritability, Exaggerated startle response, Dysphagia |
OMIM:618367 |
Toriello-Carey Syndrome |
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Brachydactyly, Microcephaly, Partial agenesis of the corpus callosum, Cerebral atrophy, Hypoplasi... |
ORPHA:3338 |
Mosaic Variegated Aneuploidy Syndrome 2 |
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Small for gestational age, Single transverse palmar crease, Rhizomelia, Microcephaly, Clinodactyl... |
OMIM:614114 |
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
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Slender long bone, Upper limb undergrowth, Obesity |
ORPHA:369837 |
Ohdo Syndrome, X-Linked |
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Ulnar deviation of the hand, Overlapping toe, Short thumb, Hip dysplasia, Decreased body weight, ... |
OMIM:300895 |
Hypogonadotropic Hypogonadism 9 With Or Without Anosmia |
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Clinodactyly |
OMIM:614838 |
Congenital Analbuminemia |
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Small for gestational age, Obesity |
ORPHA:86816 |
Sudden Infant Death With Dysgenesis Of The Testes Syndrome |
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Exaggerated startle response |
OMIM:608800 |
Hyperekplexia 1 |
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Exaggerated startle response |
OMIM:149400 |
Sandhoff Disease, Infantile Form |
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Exaggerated startle response |
ORPHA:309155 |
Khan-Khan-Katsanis Syndrome |
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Postaxial polydactyly, Microcephaly, Colpocephaly, Dysphagia, Clinodactyly, Failure to thrive |
OMIM:618460 |
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures |
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Short attention span, Short metacarpal, Brachydactyly, Microcephaly, Short metatarsal, Obesity, C... |
OMIM:617157 |
Alstrom Syndrome |
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Truncal obesity, Abnormality of the hand |
OMIM:203800 |
Wiedemann-Rautenstrauch Syndrome |
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Long toe, Short humerus, Short femur, Small for gestational age, Hypoplastic ilia, Long fingers, ... |
OMIM:264090 |
Congenital Myopathy 17 |
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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 |
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Brachydactyly, Sandal gap, Broad hallux, Clinodactyly, 3-4 toe syndactyly |
OMIM:618727 |
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
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Obesity |
ORPHA:209902 |
Abdominal Obesity-Metabolic Syndrome 3 |
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Truncal obesity, Abdominal obesity |
OMIM:615812 |
Thyrotoxic Periodic Paralysis |
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Tremor, Obesity, Weight loss |
ORPHA:79102 |
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism |
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Clinodactyly, Short distal phalanx of finger, Microcephaly |
OMIM:615866 |
Microcephaly, Epilepsy, And Diabetes Syndrome 1 |
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Simplified gyral pattern, Obesity, Hypoplasia of the corpus callosum, Primary microcephaly |
OMIM:614231 |
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal |
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Dysplastic corpus callosum |
OMIM:618810 |
Nablus Mask-Like Facial Syndrome |
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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 |
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Microcephaly, Small hand, Obesity, Fibular hypoplasia, Hypoplasia of proximal radius, Hip subluxa... |
ORPHA:444077 |
Retinitis Pigmentosa 74 |
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Obesity |
OMIM:616562 |
Primrose Syndrome |
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Restlessness, Hip contracture, Cerebral calcification, Ataxia, Aggressive behavior, Metatarsus ad... |
OMIM:259050 |
Histiocytosis-Lymphadenopathy Plus Syndrome |
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Hallux valgus, Rocker bottom foot, Camptodactyly of finger, Elbow flexion contracture, Joint cont... |
OMIM:602782 |
Cranioectodermal Dysplasia 1 |
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Broad toe, Brachydactyly, Short humerus, Rhizomelia, Single transverse palmar crease, Broad dista... |
OMIM:218330 |
Dysbetalipoproteinemia |
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Obesity |
ORPHA:412 |
Robinow Syndrome, Autosomal Dominant 3 |
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Syndactyly, Mesomelia, Camptodactyly, Clinodactyly, Short phalanx of finger, Broad thumb, Brachyd... |
OMIM:616894 |
Sheehan Syndrome |
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Obesity |
ORPHA:91355 |
Gm1 Gangliosidosis Type 1 |
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Exaggerated startle response, Dystonia |
ORPHA:79255 |
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome |
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Overlapping toe, Proximal placement of thumb, Tapered finger, Microcephaly, Clinodactyly, Hypopla... |
ORPHA:487796 |
Aromatase Deficiency |
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Eunuchoid habitus, Obesity, Tall stature |
ORPHA:91 |
Williams-Beuren Syndrome |
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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 |
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Failure to thrive in infancy, Arachnodactyly, Absent thumb, Dysplastic corpus callosum, Simplifie... |
ORPHA:500150 |
Otofaciocervical Syndrome 2, With T-Cell Deficiency |
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Clinodactyly, Scapular winging, Down-sloping shoulders, Tapered finger |
OMIM:615560 |
Chronic Thromboembolic Pulmonary Hypertension |
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Obesity, Depression |
ORPHA:70591 |
Cushing Syndrome Due To Ectopic Acth Secretion |
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Anorexia, Increased body weight, Weight loss, Depression, Truncal obesity, Abdominal obesity, Mem... |
ORPHA:99889 |
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency |
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Clinodactyly, Failure to thrive in infancy, Camptodactyly |
ORPHA:228426 |
Neutral Lipid Storage Myopathy |
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Obesity, Difficulty walking |
ORPHA:98908 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
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Exaggerated startle response |
OMIM:253800 |
Esophageal Atresia |
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Small for gestational age, Failure to thrive in infancy, Dysphagia, Oral aversion, Clinodactyly |
ORPHA:1199 |
45,X/46,Xy Mixed Gonadal Dysgenesis |
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Hallux valgus, Short metatarsal, Obesity, Cubitus valgus, Short 4th metacarpal |
ORPHA:1772 |
Robinow Syndrome, Autosomal Dominant 1 |
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Limited elbow extension and supination, Brachydactyly, Broad toe, Rhizomelia, Small hand, Mesomel... |
OMIM:180700 |
Gaisböck Syndrome |
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Overweight, Obesity |
ORPHA:90041 |
Mosaic Trisomy 16 |
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Syndactyly, Small for gestational age, Single transverse palmar crease, Short thumb, Short femora... |
ORPHA:1708 |
Zttk Syndrome |
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Failure to thrive, Dysplastic corpus callosum, Small hand, Short foot, Abnormal cerebral white ma... |
OMIM:617140 |
Lacrimoauriculodentodigital Syndrome |
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Syndactyly, Finger syndactyly, Toe syndactyly, Duplication of thumb phalanx, Absent thumb, Abnorm... |
ORPHA:2363 |
Bloom Syndrome |
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Abdominal obesity, Small for gestational age |
ORPHA:125 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
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Single transverse palmar crease, Microcephaly, Clinodactyly, Failure to thrive, Broad thumb |
OMIM:612541 |
Digeorge Syndrome |
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Obesity, Attention deficit hyperactivity disorder |
OMIM:188400 |
3Mc Syndrome 3 |
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Radioulnar synostosis, Clinodactyly, Preaxial polydactyly |
OMIM:248340 |
Cranioectodermal Dysplasia 2 |
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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 |
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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 |
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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 |
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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 |
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Broad-based gait, Exaggerated startle response, Dystonia, Inability to walk, Dysphagia, Stereotyp... |
ORPHA:438213 |
Cardiac, Facial, And Digital Anomalies With Developmental Delay |
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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 |