Gene Summary

Name:
CASK interacting protein 1
Synonyms:
3300002N10Rik,  C630036E02Rik

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
preweaning lethality, incomplete penetrance Caskin1tm1b(KOMP)Wtsi HOM   Early adult 0.00
decreased prepulse inhibition Caskin1em1(IMPC)Mbp HOM Early adult 1.53×10-10
decreased locomotor activity Caskin1em1(IMPC)Mbp HOM Early adult 8.57×10-09
cystolithiasis Caskin1tm1b(KOMP)Wtsi HET Early adult 0.00
abnormal epididymis morphology Caskin1tm1b(KOMP)Wtsi HET Early adult 0.00
increased respiratory quotient Caskin1tm1b(KOMP)Wtsi HET   Early adult 2.60×10-05
abnormal urinary bladder morphology Caskin1tm1b(KOMP)Wtsi HET Early adult 0.00
abnormal coat/hair pigmentation Caskin1tm1b(KOMP)Wtsi HET Early adult 1.53×10-07

Download data as:  TSV  XLS

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Viewing: all phenotypes

lacZ Expression

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Adrenal gland  Section images heterozygote 50% (2 of 4)
Bone  Section images heterozygote 100% (1 of 1)
Brain  Section images heterozygote 75% (3 of 4)
Cecum  Section images heterozygote 0.0% (0 of 2)
Cerebellum  Section images heterozygote 75% (3 of 4)
Colon  Section images heterozygote 50% (1 of 2)
Epididymis  Section images heterozygote 0.0% (0 of 2)
Eye  Section images heterozygote 50% (2 of 4)
Ileum  Section images heterozygote 50% (1 of 2)
Midbrain  Section images heterozygote 50% (1 of 2)
Olfactory lobe  Section images heterozygote 50% (2 of 4)
Spinal cord  Section images heterozygote 75% (3 of 4)
Testis  Section images heterozygote 0.0% (0 of 4)
Trigeminal V nerve  Section images heterozygote 50% (1 of 2)
Urinary bladder  Section images heterozygote 33.33% (1 of 3)
Vas deferens  Section images heterozygote 0.0% (0 of 2)
Aorta N/A heterozygote 0.0% (0 of 4)
Blood N/A heterozygote 0.0% (0 of 2)
Bone marrow N/A heterozygote 0.0% (0 of 3)
Brainstem N/A heterozygote 50% (2 of 4)
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote 0.0% (0 of 4)
Cerebral cortex N/A heterozygote 25% (1 of 4)
Chest bone N/A heterozygote Not available
Diaphragm N/A heterozygote 0.0% (0 of 2)
Duodenum N/A heterozygote 0.0% (0 of 2)
Esophagus N/A heterozygote 0.0% (0 of 4)
Gall bladder N/A heterozygote Not available
Gonadal fat pad N/A heterozygote 0.0% (0 of 2)
Harderian gland N/A heterozygote 0.0% (0 of 2)
Heart N/A heterozygote 0.0% (0 of 4)
Hindlimb N/A heterozygote Not available
Hippocampus N/A heterozygote 0.0% (0 of 4)
Hypothalamus N/A heterozygote 0.0% (0 of 4)
Jejunum N/A heterozygote 0.0% (0 of 2)
Kidney N/A heterozygote 50% (2 of 4)
Large intestine N/A heterozygote 25% (1 of 4)
Liver N/A heterozygote 0.0% (0 of 4)
Lower urinary tract N/A heterozygote 0.0% (0 of 4)
Lung N/A heterozygote 0.0% (0 of 4)
Lymph node N/A heterozygote 0.0% (0 of 4)
Mammary gland N/A heterozygote 0.0% (0 of 4)
Mesenteric adipose tissue N/A heterozygote 0.0% (0 of 2)
Mesenteric lymph node N/A heterozygote 0.0% (0 of 2)
Ovary N/A heterozygote 0.0% (0 of 4)
Oviduct N/A heterozygote 0.0% (0 of 4)
Pancreas N/A heterozygote 0.0% (0 of 4)
Parathyroid gland N/A heterozygote 0.0% (0 of 2)
Parotid gland N/A heterozygote 0.0% (0 of 2)
Penis N/A heterozygote 0.0% (0 of 2)
Peripheral nervous system N/A heterozygote 0.0% (0 of 4)
Peyer's patch N/A heterozygote 0.0% (0 of 4)
Pituitary gland N/A heterozygote 0.0% (0 of 4)
Prostate gland N/A heterozygote 0.0% (0 of 4)
Quadriceps N/A heterozygote 0.0% (0 of 2)
Sciatic nerve N/A heterozygote 0.0% (0 of 2)
Skeletal muscle N/A heterozygote 0.0% (0 of 4)
Skin N/A heterozygote 0.0% (0 of 4)
Small intestine N/A heterozygote 25% (1 of 4)
Spleen N/A heterozygote 0.0% (0 of 4)
Stomach pyloric region N/A heterozygote Not available
Stomach N/A heterozygote 25% (1 of 4)
Striatum N/A heterozygote 0.0% (0 of 4)
Sublingual gland N/A heterozygote 0.0% (0 of 2)
Submandibular gland N/A heterozygote 0.0% (0 of 2)
Thymus N/A heterozygote 0.0% (0 of 4)
Thyroid gland N/A heterozygote 25% (1 of 4)
Tongue N/A heterozygote 0.0% (0 of 2)
Trachea N/A heterozygote 0.0% (0 of 4)
Uterus N/A heterozygote 0.0% (0 of 4)
Vagina N/A heterozygote 0.0% (0 of 2)
Vascular system N/A heterozygote 0.0% (0 of 4)
Vesicular gland N/A heterozygote 0.0% (0 of 2)
White adipose tissue N/A heterozygote 0.0% (0 of 4)
No Embryo expression data was found for this gene.

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy Background staining in controls (WT)
adrenal gland 0.79% (4 of 506)
aorta 0.2% (1 of 500)
blood 0.0%
bone 0.0%
bone marrow 0.0%
brain 0.96% (5 of 522)
brainstem 0.38% (2 of 520)
brown adipose tissue 0.0%
cartilage tissue 0.2% (1 of 500)
cecum 5.99% (20 of 334)
cerebellum 0.58% (3 of 521)
cerebral cortex 0.39% (2 of 509)
chest bone Unavailable
colon 15.04% (17 of 113)
diaphragm 0.0%
duodenum 3.17% (4 of 126)
epididymis 15.32% (19 of 124)
esophagus 1.93% (7 of 362)
eye 0.0%
gall bladder 0.0%
gonadal fat pad 0.0%
harderian gland 0.0%
heart 0.4% (2 of 502)
hindlimb 0.0%
hippocampus 0.61% (3 of 492)
hypothalamus 0.41% (2 of 483)
ileum 11.86% (14 of 118)
jejunum 8.13% (10 of 123)
kidney 5.04% (25 of 496)
large intestine 4.96% (25 of 504)
liver 0.0%
lower urinary tract 0.2% (1 of 508)
lung 0.2% (1 of 507)
lymph node 0.2% (1 of 498)
mammary gland 0.0%
mesenteric adipose tissue 0.0%
mesenteric lymph node 0.36% (1 of 277)
midbrain 0.0%
olfactory lobe 0.0%
ovary 0.2% (1 of 492)
oviduct 0.0%
pancreas 0.97% (5 of 513)
parathyroid gland 0.0%
parotid gland 0.0%
penis 0.0%
peripheral nervous system 0.19% (1 of 513)
peyers patch 0.0%
pituitary gland 0.2% (1 of 508)
prostate gland 2.02% (10 of 496)
quadriceps 0.0%
sciatic nerve 0.0%
skeletal muscle 0.0%
skin 0.19% (1 of 515)
small intestine 5.25% (26 of 495)
spinal cord 0.6% (3 of 503)
spleen 0.59% (3 of 509)
stomach 3.85% (20 of 519)
stomach pyloric region 0.0%
striatum 0.59% (3 of 507)
sublingual gland 0.0%
submandibular gland 1.63% (2 of 123)
testis 0.98% (5 of 512)
thymus 0.2% (1 of 507)
thyroid gland 3.12% (16 of 512)
tongue 3.45% (4 of 116)
trachea 0.57% (3 of 523)
trigeminal v nerve 0.0%
urinary bladder 0.0%
uterus 0.39% (2 of 515)
vagina 0.0%
vas deferens 4.01% (13 of 324)
vascular system 0.0%
vesicular gland 0.0%
white adipose tissue 0.0%
No Embryo expression data was found for this gene.

Associated Images

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

X-ray

XRay Images Whole Body Dorso Ventral

19 Images

Adult LacZ

LacZ Images Section

45 Images

X-ray

XRay Images Whole Body Lateral Orientation

19 Images

Human diseases caused by Caskin1 mutations

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

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

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

The table below shows human diseases predicted to be associated to Caskin1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Familial Alzheimer-Like Prion Disease
Cognitive impairment, Depression, Deficit in phonologic short-term memory, Anxiety, Attention def... ORPHA:280397
Griscelli Syndrome, Type 3
Silver-gray hair, Large clumps of pigment irregularly distributed along hair shaft, White eyelashes OMIM:609227
Behavioral Variant Of Frontotemporal Dementia
Motor stereotypy, Apathy, Upper motor neuron dysfunction, Mental deterioration, Abnormality of ex... ORPHA:275864
Intellectual Developmental Disorder, Autosomal Recessive 66
Shyness, Gait ataxia, Attention deficit hyperactivity disorder, Aggressive behavior OMIM:618221
Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments
Apathy, Bradykinesia, Anxiety, Parkinsonism, Inappropriate behavior, Memory impairment, Falls, Mo... ORPHA:412066
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Ataxia, Cognitive impairment, Depression, Myoclonus, Anxiety, Parkinsonism, Inappropriate behavio... ORPHA:401901
Creutzfeldt-Jakob Disease
Apathy, Extrapyramidal muscular rigidity, Depression, Myoclonus, Anxiety, Hemiparesis, Memory imp... OMIM:123400
Griscelli Syndrome, Type 1
Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Silver-gray hair, White... OMIM:214450
Basal Ganglia Calcification, Idiopathic, 5
Apathy, Cognitive impairment, Depression, Anxiety, Parkinsonism, Chorea, Athetosis, Motor tics, D... OMIM:615483
Developmental And Epileptic Encephalopathy 78
Hypothermia, Inability to walk, Poor eye contact, Cerebral palsy, Chorea, Spasticity OMIM:618557
Loose Anagen Hair Syndrome
Loose anagen hair, Fair hair, Sparse hair OMIM:600628
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7
Motor stereotypy, Apathy, Myoclonus, Babinski sign, Rigidity, Inappropriate behavior, Memory impa... OMIM:600795
Epilepsy, Progressive Myoclonic, 12
Ataxia, Dysmetria, Mental deterioration, Depression, Myoclonus, Anxiety, Difficulty walking, Atte... OMIM:619191
Huntington Disease-Like 1
Dysmetria, Depression, Anxiety, Rigidity, Chorea, Aggressive behavior, Unsteady gait, Incoordinat... OMIM:603218
N-Acetylaspartate Deficiency
Motor stereotypy, Decreased body weight, Self-mutilation, Truncal ataxia, Unsteady gait OMIM:614063
Intellectual Disability-Epilepsy-Extrapyramidal Syndrome
Gait imbalance, Broad-based gait, Clumsiness, Poor eye contact, Tip-toe gait, Gait ataxia, Involu... ORPHA:468620
Intellectual Developmental Disorder With Autism And Speech Delay
Impaired social interactions, Inability to walk, Motor stereotypy OMIM:606053
Early-Onset Schizophrenia
Impairment in personality functioning, Cognitive impairment, Abnormal emotion/affect behavior, De... ORPHA:96369
Huntington Disease-Like 2
Apathy, Action tremor, Bradykinesia, Depression, Anxiety, Rigidity, Chorea, Weight loss, Irritabi... OMIM:606438
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive
Motor stereotypy, Inability to walk, Self-injurious behavior, Poor eye contact, Involuntary movem... OMIM:617820
Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination
Motor stereotypy, Failure to thrive, Difficulty walking, Spasticity, Irritability OMIM:617393
Albinism, Oculocutaneous, Type Iii
Partial albinism, Albinism, Red hair OMIM:203290
Pick Disease Of Brain
Motor stereotypy, Apathy, Diminished motivation, Emotional blunting, Disinhibition, Inappropriate... OMIM:172700
Huntington Disease
Gait imbalance, Inability to walk, Mental deterioration, Babinski sign, Chorea, Difficulty walkin... ORPHA:399
Childhood Disintegrative Disorder
Motor stereotypy, Social and occupational deterioration, Progressive language deterioration, Abno... ORPHA:168782
Migraine, Familial Hemiplegic, 1
Hemiplegia, Fever, Ataxia, Anxiety, Hemiparesis, Tremor OMIM:141500
Tietz Syndrome
Hypopigmentation of the skin, White eyebrow, Hypopigmentation of hair, Abnormality of skin pigmen... ORPHA:42665
Spinocerebellar Ataxia 12
Action tremor, Progressive cerebellar ataxia, Dysmetria, Depression, Dysdiadochokinesis, Anxiety,... OMIM:604326
Spinocerebellar Ataxia 48
Ataxia, Dysmetria, Mental deterioration, Depression, Cachexia, Anxiety, Babinski sign, Parkinsoni... OMIM:618093
Foxg1 Syndrome
Motor stereotypy, Inability to walk, Poor eye contact, Decreased body weight, Inappropriate cryin... ORPHA:561854
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures
Motor stereotypy, Ataxia, Poor coordination, Falls, Chorea, Aggressive behavior, Inappropriate la... OMIM:619150
Juvenile Huntington Disease
Broad-based gait, Ataxia, Progressive cerebellar ataxia, Bradykinesia, Hyperactivity, Depression,... ORPHA:248111
Dopa-Responsive Dystonia
Agoraphobia, Fever, Inability to walk, Abnormal social behavior, Depression, Poor coordination, A... ORPHA:255
Chromosome 3Q29 Deletion Syndrome
Motor stereotypy, Failure to thrive, Hyperactivity, Small for gestational age, Anxiety, Gait atax... OMIM:609425
Spontaneous Periodic Hypothermia
Gait disturbance, Hypothermia, Ataxia, Tremor ORPHA:29822
Smith-Magenis syndrome
Motor stereotypy, Hyperactivity, Self-mutilation DECIPHER:8
Intellectual Developmental Disorder, Autosomal Recessive 58
Motor stereotypy, Self-injurious behavior, Spastic diplegia, Choreoathetosis, Aggressive behavior OMIM:617270
Aromatic L-Amino Acid Decarboxylase Deficiency
Torticollis, Blepharospasm, Exaggerated startle response, Emotional lability, Limb hypertonia, Ba... OMIM:608643
Asperger Syndrome, X-Linked, Susceptibility To, 2
Motor stereotypy, Impaired ability to form peer relationships, Abnormal nonverbal communicative b... OMIM:300497
Asperger Syndrome, X-Linked, Susceptibility To, 1
Motor stereotypy, Impaired ability to form peer relationships, Abnormal nonverbal communicative b... OMIM:300494
Asperger Syndrome, Susceptibility To, 1
Motor stereotypy, Impaired ability to form peer relationships, Abnormal nonverbal communicative b... OMIM:608638
Asperger Syndrome, Susceptibility To, 2
Motor stereotypy, Impaired ability to form peer relationships, Abnormal nonverbal communicative b... OMIM:608631
Pontocerebellar Hypoplasia, Type 11
Broad-based gait, Happy demeanor, Ataxia, Inability to walk, Poor eye contact, Decreased body wei... OMIM:617695
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Broad-based gait, Motor stereotypy, Hyperactivity, Tremor, Aggressive behavior, Spastic tetraparesis OMIM:619470
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia
Motor stereotypy, Apathy, Babinski sign, Disinhibition, Spasticity, Emotional lability, Frontotem... OMIM:612069
Parkinson Disease 6, Autosomal Recessive Early-Onset
Bradykinesia, Resting tremor, Depression, Anxiety, Parkinsonism, Rigidity, Dementia OMIM:605909
Atypical Rett Syndrome
Loss of ambulation, Inability to walk, Poor eye contact, Inappropriate crying, Hand apraxia, Pill... ORPHA:3095
Autism, Susceptibility To, X-Linked 3
Lack of peer relationships, Motor stereotypy, Abnormal nonverbal communicative behavior OMIM:300496
Autism, Susceptibility To, 8
Motor stereotypy, Impaired ability to form peer relationships, Abnormal nonverbal communicative b... OMIM:607373
Autism, Susceptibility To, X-Linked 1
Lack of peer relationships, Motor stereotypy, Abnormal nonverbal communicative behavior OMIM:300425
Autism
Motor stereotypy, Impaired ability to form peer relationships, Abnormal nonverbal communicative b... OMIM:209850
Chromosome 15Q11-Q13 Duplication Syndrome
Motor stereotypy, Impaired ability to form peer relationships, Abnormal nonverbal communicative b... OMIM:608636
Uncombable Hair Syndrome
Woolly hair, Patchy alopecia, Coarse hair, Trichodysplasia, Abnormal hair morphology, White hair ORPHA:1410
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features
Motor stereotypy, Self-injurious behavior, Anxiety, Speech apraxia, Attention deficit hyperactivi... OMIM:613670
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Broad-based gait, Abnormal fear/anxiety-related behavior, Hyperactivity, Resting tremor, Parkinso... ORPHA:3077
Congenital Heart Defect-Round Face-Developmental Delay Syndrome
Hypospadias, Generalized hyperpigmentation, Hypopigmentation of hair ORPHA:1355
Hidrotic Ectodermal Dysplasia
Sparse scalp hair, Sparse hair, Sparse eyebrow, Alopecia, Slow-growing nails, Absent eyebrow, Spa... ORPHA:189
Chorea, Benign Hereditary
Gait disturbance, Anxiety, Chorea OMIM:118700
Dystonia 12
Torticollis, Bradykinesia, Depression, Anxiety, Parkinsonism, Tremor, Unsteady gait, Emotional la... OMIM:128235
Hyperprolinemia, Type I
Motor stereotypy, Ataxia, Hyperactivity, Aggressive behavior OMIM:239500
Intellectual Developmental Disorder, X-Linked 109
Recurrent hand flapping, Impulsivity, Stereotypical body rocking, Poor coordination, Hyperactivit... OMIM:309548
Pandas
Agoraphobia, Abnormal fear/anxiety-related behavior, Clumsiness, Impulsivity, Depression, Separat... ORPHA:66624
Adult-Onset Autosomal Dominant Leukodystrophy
Ataxia, Babinski sign, Tremor, Spasticity, Hypothermia, Hypertonia, Action tremor, Dysmetria, Int... ORPHA:99027
Juvenile Neuronal Ceroid Lipofuscinosis
Motor stereotypy, Loss of ambulation, Clumsiness, Poor fine motor coordination, Progressive langu... ORPHA:79264
Fraxe Intellectual Disability
Clumsiness, Impulsivity, Recurrent hand flapping, Stereotypical body rocking, Hyperactivity, Aggr... ORPHA:100973
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Hyperactivity, Abnormal social behavior ORPHA:436151
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities
Motor stereotypy, Attention deficit hyperactivity disorder OMIM:617787
Griscelli Syndrome Type 3
Partial albinism, Hypopigmentation of hair, Iris hypopigmentation ORPHA:79478
Waardenburg Syndrome, Type 2F
Hypermelanotic macule, Blue irides, Hypopigmentation of the skin, Heterochromia iridis, Cafe-au-l... OMIM:619947
Perry Syndrome
Apathy, Akinesia, Bradykinesia, Depression, Anxiety, Parkinsonism, Inappropriate behavior, Rigidi... OMIM:168605
Dilution, Pigmentary
Hypopigmentation of the skin, Iris hypopigmentation, Hypopigmentation of hair OMIM:126070
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia
Failure to thrive, Poor eye contact, Myoclonus, Anxiety, Tremor OMIM:619651
Unilateral Focal Polymicrogyria
Poor fine motor coordination, Mental deterioration, Spastic hemiparesis, Abnormal nonverbal commu... ORPHA:268947
Landau-Kleffner Syndrome
Social and occupational deterioration, Impulsivity, Hyperactivity, Depression, Anxiety, Memory im... ORPHA:98818
Pitt-Hopkins-Like Syndrome 1
Motor stereotypy, Ataxia, Hyperactivity, Progressive language deterioration, Spasticity, Aggressi... OMIM:610042
Developmental And Epileptic Encephalopathy 15
Inability to walk, Poor eye contact, Irritability OMIM:615006
Early-Onset Autosomal Dominant Alzheimer Disease
Hypertonia, Ataxia, Semantic dementia, Abnormal social behavior, Myoclonus, Parkinsonism, Memory ... ORPHA:1020
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Motor stereotypy, Ataxia, Attention deficit hyperactivity disorder OMIM:618709
Woolly Hair
Abnormality of hair texture, Woolly hair, Brittle hair, Sparse body hair, Hypopigmentation of hai... ORPHA:170
Neurodevelopmental Disorder With Hypotonia And Autistic Features With Or Without Hyperkinetic Movements
Inability to walk, Self-injurious behavior, Stereotypical hand wringing, Chorea OMIM:618760
Severe Intellectual Disability-Progressive Postnatal Microcephaly-Midline Stereotypic Hand Movements Syndrome
Self-injurious behavior, Inappropriate crying, Hyperkinetic movements, Stereotypical hand wringin... ORPHA:397933
Albinism, Oculocutaneous, Type Ib
Hypopigmentation of the skin, Albinism, Hypopigmentation of hair OMIM:606952
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Ataxia, Bradykinesia, Dysmetria, Cognitive impairment, Depression, Spastic paraparesis, Dysdiadoc... OMIM:615157
Baker-Gordon Syndrome
Motor stereotypy, Ataxia, Inability to walk, Self-injurious behavior, Hyperkinetic movements, Cho... OMIM:618218
Developmental And Epileptic Encephalopathy 58
Motor stereotypy, Spastic diplegia, Inability to walk OMIM:617830
Waardenburg Syndrome, Type 2B
White forelock, Premature graying of hair, Heterochromia iridis OMIM:600193
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Motor stereotypy, Ataxia, Bradykinesia, Resting tremor, Intention tremor, Myoclonus, Anxiety, Pan... OMIM:619725
Developmental And Epileptic Encephalopathy 97
Tremor, Inability to walk, Stereotypical hand wringing OMIM:619561
Intellectual Developmental Disorder, X-Linked 104
Ataxia, Poor eye contact, Hyperactivity, Tremor, Aggressive behavior, Spasticity OMIM:300983
Intellectual Developmental Disorder, X-Linked 72
Motor stereotypy, Hyperactivity OMIM:300271
Myoclonus-Dystonia Syndrome
Torticollis, Depression, Spinal myoclonus, Myoclonus, Anxiety, Panic attack, Limb myoclonus, Pers... ORPHA:36899
Posterior Cortical Atrophy
Ataxia, Anxiety, Memory impairment, Speech apraxia, Limb apraxia, Oculomotor apraxia, Inertia ORPHA:54247
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Motor stereotypy, Inability to walk, Self-injurious behavior, Hyperactivity, Tremor, Spasticity, ... OMIM:618718
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Motor stereotypy, Tremor, Ataxia OMIM:617862
Fragile X Tremor/Ataxia Syndrome
Action tremor, Bradykinesia, Poor fine motor coordination, Dysmetria, Resting tremor, Mental dete... OMIM:300623
Riboflavin Deficiency
Hypothermia, Lethargy OMIM:615026
Severe Intellectual Disability And Progressive Spastic Paraplegia
Motor stereotypy, Babinski sign, Spastic dysarthria, Difficulty walking, Progressive spastic para... ORPHA:280763
Hereditary Geniospasm
Chin myoclonus, Abnormal social behavior ORPHA:53372
Hsd10 Disease
Ataxia, Spastic paraparesis, Abnormal social behavior, Myoclonus, Rigidity, Gait disturbance, Tre... ORPHA:391417
Inherited Creutzfeldt-Jakob Disease
Progressive extrapyramidal muscular rigidity, Progressive cerebellar ataxia, Babinski sign, Akine... ORPHA:282166
Rapid-Onset Dystonia-Parkinsonism
Torticollis, Bradykinesia, Resting tremor, Depression, Anxiety, Parkinsonism, Gait ataxia, Emotio... ORPHA:71517
Griscelli Syndrome, Type 2
Hypopigmentation of the skin, Melanin pigment aggregation in hair shafts, Accumulation of melanos... OMIM:607624
Albinism, Oculocutaneous, Type Iv
Albinism, Hypopigmentation of hair, Blue irides OMIM:606574
Severe Neurodevelopmental Disorder With Feeding Difficulties-Stereotypic Hand Movement-Bilateral Cataract
Stereotypical hand wringing, Failure to thrive, Spasticity, Irritability ORPHA:500545
Cln5 Disease
Ataxia, Inability to walk, Poor gross motor coordination, Clumsiness, Dysmetria, Hyperactivity, M... ORPHA:228360
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Partial albinism, Hypopigmentation of hair ORPHA:90023
Intellectual Developmental Disorder, Autosomal Recessive 73
Recurrent hand flapping, Impulsivity, Poor coordination, Gait ataxia, Irritability OMIM:619717
Intellectual Developmental Disorder, Autosomal Dominant 7
Motor stereotypy, Happy demeanor, Ataxia, Hyperactivity, Small for gestational age, Stereotypical... OMIM:614104
2-Methylbutyryl-Coa Dehydrogenase Deficiency
Hypothermia, Lethargy OMIM:610006
Hypotrichosis 8
Sparse scalp hair, Woolly hair, Fair hair, Sparse hair, Sparse axillary hair, Sparse eyelashes, S... OMIM:278150
Young-Onset Parkinson Disease
Gait imbalance, Apathy, Impulsivity, Bradykinesia, Cognitive impairment, Depression, Anxiety, Pan... ORPHA:2828
Cdkl5-Deficiency Disorder
Poor eye contact, Stereotypical hand wringing, Gait disturbance, Difficulty walking, Inappropriat... ORPHA:505652
Xq28 (MECP2) duplication
Motor stereotypy, Failure to thrive, Inability to walk, Depression, Anxiety, Progressive spastici... DECIPHER:45
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities
Motor stereotypy, Inability to walk, Self-injurious behavior, Stereotypical hand wringing, Chorea... OMIM:618917
Cortical Dysplasia, Complex, With Other Brain Malformations 2
Motor stereotypy, Hypertonia, Self-injurious behavior, Spastic tetraplegia OMIM:615282
11Q22.2Q22.3 Microdeletion Syndrome
Poor eye contact, Abnormal social behavior, Anxiety, Attention deficit hyperactivity disorder, Ob... ORPHA:444002
Alexander Disease
Hypothermia, Ataxia, Failure to thrive, Self-injurious behavior, Depression, Abnormal pyramidal s... ORPHA:58
Parkinsonism-Dystonia 3, Childhood-Onset
Hypertonia, Ataxia, Action tremor, Depression, Anxiety, Parkinsonism, Hyperkinetic movements, Cho... OMIM:619738
Late Infantile Neuronal Ceroid Lipofuscinosis
Motor stereotypy, Ataxia, Inability to walk, Cortical myoclonus, Hyperactivity, Mental deteriorat... ORPHA:168491
Spinocerebellar Ataxia Type 29
Ataxia, Dysmetria, Cognitive impairment, Intention tremor, Dysdiadochokinesis, Gait ataxia, Delay... ORPHA:208513
Gm2 Gangliosidosis, Ab Variant
Abnormal fear/anxiety-related behavior, Exaggerated startle response, Cognitive impairment, Anxie... ORPHA:309246
Cntnap2-Related Developmental And Epileptic Encephalopathy
Ataxia, Poor eye contact, Hyperactivity, Progressive language deterioration, Self-mutilation, Men... ORPHA:163681
Ermine Phenotype
Spotty hyperpigmentation, Albinism, White eyelashes, Vitiligo, White eyebrow, White hair OMIM:227010
Gerstmann-Straussler Disease
Bradykinesia, Limb ataxia, Depression, Myoclonus, Parkinsonism, Truncal ataxia, Memory impairment... OMIM:137440
Intellectual Developmental Disorder With Autistic Features And Language Delay, With Or Without Seizures
Motor stereotypy, Anxiety, Attention deficit hyperactivity disorder, Spastic ataxia OMIM:618906
Leukoencephalopathy, Motor Delay, Spasticity, And Dysarthria Syndrome
Lower limb spasticity, Anxiety, Bradykinesia, Attention deficit hyperactivity disorder OMIM:618878
Metachromatic Leukodystrophy, Adult Form
Clumsiness, Progressive psychomotor deterioration, Abnormal social behavior, Depression, Intentio... ORPHA:309271
Idiopathic Congenital Hypothyroidism
Hypothermia, Lethargy ORPHA:95717
Progressive Non-Fluent Aphasia
Mental deterioration, Depression, Abnormality of extrapyramidal motor function, Anxiety, Parkinso... ORPHA:100070
Waardenburg Syndrome, Type 4B
Blue irides, White eyebrow, White eyelashes, Heterochromia iridis, White forelock, Premature gray... OMIM:613265
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Motor stereotypy, Failure to thrive, Ataxia, Cognitive impairment, Anxiety, Paraplegia, Emotional... ORPHA:927
Cerebellar Atrophy With Seizures And Variable Developmental Delay
Ataxia, Inability to walk, Poor eye contact, Dysmetria, Chorea, Gait ataxia OMIM:618501
Developmental And Epileptic Encephalopathy 44
Failure to thrive, Poor eye contact, Athetosis, Spasticity, Irritability OMIM:617132
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Motor stereotypy, Self-mutilation, Depression, Anxiety, Hyperkinetic movements, Gait disturbance,... ORPHA:457240
Waardenburg Syndrome, Type 2A
Numerous pigmented freckles, Partial albinism, White eyebrow, Albinism, White eyelashes, Synophry... OMIM:193510
Meningococcal Meningitis
Hypothermia, Fever, Irritability, Lethargy ORPHA:33475
Vulto-Van Silfhout-De Vries Syndrome
Gait disturbance, Poor eye contact, Aggressive behavior, Emotional lability OMIM:615828
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities
Hypothermia, Abnormality of temperature regulation, Fever, Inability to walk, Unsteady gait, Obesity OMIM:618493
Primary Erythromelalgia
Hypothermia ORPHA:90026
Combined Oxidative Phosphorylation Deficiency 37
Hypothermia, Failure to thrive, Poor eye contact, Progressive neurologic deterioration, Spasticity OMIM:618329
Cerebral Autosomal Dominant Arteriopathy-Subcortical Infarcts-Leukoencephalopathy
Hemiplegia, Bradyphrenia, Apathy, Cognitive impairment, Depression, Anxiety, Parkinsonism, Memory... ORPHA:136
Choreoacanthocytosis
Progressive choreoathetosis, Anxiety, Parkinsonism, Self-mutilation of tongue and lips due to inv... OMIM:200150
Autosomal Recessive Non-Syndromic Intellectual Disability
Motor stereotypy, Impulsivity, Hyperactivity, Depression, Chorea, Spasticity ORPHA:88616
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy
Motor stereotypy, Cognitive impairment, Depression, Anxiety, Suicidal ideation, Involuntary movem... ORPHA:98784
Intellectual Developmental Disorder, Autosomal Recessive 38
Hyperactivity, Recurrent hand flapping, Self-mutilation, Aggressive behavior, Unsteady gait OMIM:615516
Intellectual Developmental Disorder With Autism And Macrocephaly
Reduced use of typical gestures, Clumsiness, Recurrent hand flapping, Anxiety, Pronoun reversal, ... OMIM:615032
Metachromatic Leukodystrophy, Juvenile Form
Clumsiness, Progressive psychomotor deterioration, Abnormal social behavior, Intention tremor, De... ORPHA:309263
3-Hydroxy-3-Methylglutaric Aciduria
Hypothermia, Fever, Apathy, Ataxia, Spastic hemiparesis, Myoclonus, Spasticity, Weight loss, Leth... ORPHA:20
Diethylstilbestrol Syndrome
Hypoplasia of the uterus, Cryptorchidism, Micropenis, Hypospadias, Abnormality of the uterus, Abn... ORPHA:1916
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Motor stereotypy, Happy demeanor, Ataxia, Inability to walk, Impulsivity, Recurrent hand flapping... OMIM:619580
Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter
Motor stereotypy, Happy demeanor, Poor eye contact, Difficulty walking, Gait ataxia, Spasticity, ... OMIM:617807
Intellectual Developmental Disorder, Autosomal Dominant 45
Slender build, Motor stereotypy, Recurrent hand flapping, Hyperactivity, Cerebral palsy, Anxiety,... OMIM:617600
Oculocutaneous Albinism, Type Viii
Hypopigmentation of the skin, Hypopigmentation of hair, Iris transillumination defect OMIM:619165
Female Restricted Epilepsy With Intellectual Disability
Hyperactivity, Impulsivity, Abnormal social behavior, Anxiety, Aggressive behavior ORPHA:101039
Albinism, Oculocutaneous, Type Ii
Blue irides, Hypopigmentation of the skin, Hypopigmentation of hair, Freckles in sun-exposed area... OMIM:203200
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Hypothermia, Failure to thrive OMIM:245400
Waardenburg Syndrome Type 2
Hypopigmentation of hair, Heterochromia iridis, White forelock, Premature graying of hair, Hypopi... ORPHA:895
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Motor stereotypy, Self-injurious behavior, Poor eye contact, Recurrent hand flapping, Hyperactivi... ORPHA:449291
Stiff Person Spectrum Disorder
Agoraphobia, Exaggerated startle response, Anxiety, Rigidity, Falls, Difficulty walking, Emotiona... ORPHA:3198
Christianson Syndrome
Conspicuously happy disposition, Motor stereotypy, Cachexia, Truncal ataxia, Gait ataxia, Inappro... ORPHA:85278
Sudden Infant Death-Dysgenesis Of The Testes Syndrome
Hypothermia, Myoclonus ORPHA:168593
Prader-Willi Syndrome Due To Imprinting Mutation
External genital hypoplasia, Hypopigmentation of the skin, Hypogonadotropic hypogonadism, Hypopig... ORPHA:177910
Angelman Syndrome Due To A Point Mutation
Gait imbalance, Happy demeanor, Ataxia, Broad-based gait, Recurrent hand flapping, Heat intoleran... ORPHA:411511
Autism, Susceptibility To, X-Linked 2
Lack of peer relationships, Motor stereotypy, Abnormal nonverbal communicative behavior OMIM:300495
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Hypopigmentation of the skin, Albinism, Hypopigmentation of hair ORPHA:2786
Posttransplant Acute Limbic Encephalitis
Ataxia, Cognitive impairment, Depression, Myoclonus, Anxiety, Memory impairment ORPHA:163921
Intellectual Developmental Disorder, Autosomal Recessive 39
Motor stereotypy, Hyperactivity, Aggressive behavior OMIM:615541
Primary Dystonia, Dyt13 Type
Torticollis, Motor stereotypy, Action tremor, Involuntary movements, Postural tremor ORPHA:98807
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Gait imbalance, Happy demeanor, Ataxia, Broad-based gait, Recurrent hand flapping, Hyperactivity,... ORPHA:98794
Cerebral Arteriopathy, Autosomal Recessive, With Subcortical Infarcts And Leukoencephalopathy
Ataxia, Dysmetria, Gait apraxia, Anxiety, Babinski sign, Rigidity, Abnormal pyramidal sign, Gait ... OMIM:600142
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related
Apathy, Progressive language deterioration, Parkinsonism, Memory impairment, Disinhibition, Hyper... OMIM:607485
Permanent Congenital Hypothyroidism
Hypothermia, Tetraplegia ORPHA:226292
Oculocutaneous Albinism Type 3
Blue irides, Hypopigmentation of the skin, Iris hypopigmentation, White eyebrow, White eyelashes,... ORPHA:79433
Piebald Trait-Neurologic Defects Syndrome
Abnormal eyebrow morphology, Irregular hyperpigmentation, Hypopigmentation of hair, Abnormal eyel... ORPHA:2885
Obesity, Hyperphagia, And Developmental Delay
Motor stereotypy, Obesity, Poor eye contact OMIM:613886
Neuroectodermal Melanolysosomal Disease
Hypopigmentation of the skin, Generalized hyperpigmentation, Hypopigmentation of hair, Premature ... ORPHA:33445
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type
Motor stereotypy, Ataxia, Inability to walk, Poor eye contact, Decreased body weight, Depression,... OMIM:300260
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type
Conspicuously happy disposition, Failure to thrive, Ataxia, Hypertonia, Self-injurious behavior, ... OMIM:300986
Isolated Thyroid-Stimulating Hormone Deficiency
Hypothermia, Failure to thrive, Clumsiness, Depression, Attention deficit hyperactivity disorder,... ORPHA:90674
Elejalde Neuroectodermal Melanolysosomal Syndrome
Hypopigmentation of the skin, Melanin pigment aggregation in hair shafts, Accumulation of melanos... OMIM:256710
Menkes Disease
Hypothermia, Babinski sign, Hypertonia OMIM:309400
Familial Thyroid Dyshormonogenesis
Hypothermia, Lethargy ORPHA:95716
Autism Spectrum Disorder Due To Auts2 Deficiency
Motor stereotypy, Hypertonia, Hyperactivity, Small for gestational age, Cerebral palsy, Attention... ORPHA:352490
Childhood Absence Epilepsy
Abnormal social behavior, Depression, Anxiety, Low self esteem, Limb myoclonus, Attention deficit... ORPHA:64280
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Hypothermia, Ataxia, Failure to thrive, Poor fine motor coordination, Mental deterioration, Memor... ORPHA:79282
Brunet-Wagner Neurodevelopmental Syndrome
Motor stereotypy, Self-injurious behavior OMIM:619690
Developmental And Epileptic Encephalopathy 6B
Motor stereotypy, Ataxia, Inability to walk, Myoclonus, Hyperkinetic movements, Chorea, Choreoath... OMIM:619317
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Large for gestational age, Hypothermia ORPHA:226313
Developmental And Epileptic Encephalopathy 107
Motor stereotypy OMIM:620033
Glycosylphosphatidylinositol Biosynthesis Defect 17
Overfriendliness, Aggressive behavior OMIM:618010
Metachromatic Leukodystrophy, Late Infantile Form
Clumsiness, Tip-toe gait, Abnormal social behavior, Decerebrate rigidity, Babinski sign, Frequent... ORPHA:309256
Multiple System Atrophy, Cerebellar Type
Broad-based gait, Apathy, Progressive cerebellar ataxia, Bradykinesia, Limb ataxia, Resting tremo... ORPHA:227510
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Obesity, Impaired social interactions, No social interaction, Aggressive behavior ORPHA:329249
Mitochondrial Complex Iv Deficiency, Nuclear Type 13
Hypothermia OMIM:616501
Intellectual Developmental Disorder, Autosomal Dominant 51
Failure to thrive, Hand-leading gestures, Recurrent hand flapping, Tics, Aggressive behavior, Att... OMIM:617788
Tonne-Kalscheuer Syndrome
Broad-based gait, Self-injurious behavior, Anxiety, Tremor, Shyness, Aggressive behavior, Spasticity OMIM:300978
Carnitine-Acylcarnitine Translocase Deficiency
Hypothermia, Irritability, Lethargy ORPHA:159
Waardenburg-Shah Syndrome
Abnormal eyebrow morphology, Abnormality of retinal pigmentation, Hypopigmentation of hair, White... ORPHA:897
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
Motor stereotypy, Decreased body weight, Hyperactivity, Tremor, Attention deficit hyperactivity d... OMIM:618342
Tbck-Related Intellectual Disability Syndrome
Hypothermia, Inability to walk, Bipolar affective disorder, Cognitive impairment ORPHA:488632
Syngap1-Related Developmental And Epileptic Encephalopathy
Ataxia, Recurrent hand flapping, Poor coordination, Gait disturbance, Tremor, Impaired social int... ORPHA:544254
Cerebral Creatine Deficiency Syndrome 1
Broad-based gait, Failure to thrive, Hypertonia, Motor stereotypy, Gait disturbance, Speech aprax... OMIM:300352
Mitochondrial Dna-Associated Leigh Syndrome
Hypothermia, Fever, Failure to thrive, Ataxia, Hypertonia, Chorea, Gait ataxia, Spasticity ORPHA:255210
Fatty Acid Hydroxylase-Associated Neurodegeneration
Loss of ambulation, Mental deterioration, Depression, Anxiety, Falls, Progressive extrapyramidal ... ORPHA:329308
Congenital Enterovirus Infection
Hypothermia, Fever, Irritability ORPHA:292
Congenital Hypothyroidism
Depression, Hypothermia, Anxiety ORPHA:442
Cri-Du-Chat Syndrome
Conspicuously happy disposition, Overfriendliness, Hypertonia, Motor stereotypy, Hyperactivity, S... OMIM:123450
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Hypothermia, Failure to thrive, Hypertonia, Myoclonus, Hyperkinetic movements, Choreoathetosis, A... ORPHA:17
Snijders Blok-Campeau Syndrome
Broad-based gait, Speech apraxia, Motor stereotypy, Unsteady gait OMIM:618205
Waardenburg Syndrome, Type 4A
Blue irides, White eyebrow, White eyelashes, Heterochromia iridis, White forelock, Premature gray... OMIM:277580
Lamb-Shaffer Syndrome
Motor stereotypy, Ataxia, Hyperactivity, Abnormal social behavior, Upper motor neuron dysfunction ORPHA:530983
Distal Xq28 Microduplication Syndrome
Impulsivity, Poor eye contact, Tip-toe gait, Stereotypical body rocking, Depression, Anxiety, Sel... ORPHA:293939
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Motor stereotypy, Hypertonia, Ataxia, Myoclonus, Tremor, Gait ataxia OMIM:619092
Niemann-Pick Disease Type C
Ataxia, Cataplexy, Abnormal social behavior, Mental deterioration, Chorea, Tremor, Lower limb spa... ORPHA:646
Ethylene Glycol Poisoning
Hypothermia, Ataxia, Euphoria, Myoclonus, Slurred speech ORPHA:31826
Adenylosuccinase Deficiency
Happy demeanor, Inability to walk, Poor eye contact, Hyperactivity, Opisthotonus, Self-mutilation... OMIM:103050
2Q23.1 Microdeletion Syndrome
Motor stereotypy, Ataxia, Self-injurious behavior, Hyperactivity, Paroxysmal bursts of laughter ORPHA:228402
Intellectual Developmental Disorder, X-Linked 98
Motor stereotypy, Failure to thrive, Ataxia, Poor eye contact, Recurrent hand flapping, Stereotyp... OMIM:300912
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Hypothermia, Small for gestational age, Obesity, Overweight, Lethargy ORPHA:26793
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hypothermia, Failure to thrive OMIM:251880
Pyruvate Dehydrogenase E2 Deficiency
Broad-based gait, Hypertonia, Anxiety, Babinski sign, Gait disturbance, Difficulty walking, Speec... ORPHA:79244
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Motor stereotypy, Myoclonus, Inability to walk, Poor eye contact ORPHA:411986
Fragile X-Associated Tremor/Ataxia Syndrome
Ataxia, Bradykinesia, Dysmetria, Depression, Intention tremor, Anxiety, Parkinsonism, Rigidity, M... ORPHA:93256
Fragile X Syndrome
Hyperactivity, Poor eye contact, Recurrent hand flapping, Self-biting OMIM:300624
48,Xxyy Syndrome
Motor stereotypy, Ataxia, Depression, Anxiety, Tremor, Attention deficit hyperactivity disorder, ... ORPHA:10
Shukla-Vernon Syndrome
Broad-based gait, Motor stereotypy, Attention deficit hyperactivity disorder OMIM:301029
Rett Syndrome
Gait apraxia, Cachexia, Truncal ataxia, Stereotypical hand wringing, Motor deterioration, Gait at... OMIM:312750
Piebaldism
Heterochromia iridis, Hypopigmentation of hair, White eyebrow, White eyelashes, Synophrys, Piebal... ORPHA:2884
Rett Syndrome, Congenital Variant
Motor stereotypy, Poor eye contact, Inappropriate crying, Chorea, Athetosis, Tongue thrusting, Sp... OMIM:613454
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities
Motor stereotypy, Dysmetria, Babinski sign, Truncal ataxia, Attention deficit hyperactivity disor... OMIM:619121
Waardenburg Syndrome Type 1
Thick eyebrow, Hypopigmentation of hair, White eyebrow, White eyelashes, Synophrys, Heterochromia... ORPHA:894
Acrodysostosis 2 With Or Without Hormone Resistance
Fair hair, Blue irides, Hypospadias, Cryptorchidism, Red hair OMIM:614613
Oculocutaneous Albinism Type 4
Abnormality of retinal pigmentation, Ocular albinism, Hypopigmentation of the skin, Hypopigmentat... ORPHA:79435
Developmental And Speech Delay Due To Sox5 Deficiency
Motor stereotypy, Self-injurious behavior, Anxiety, Attention deficit hyperactivity disorder, Agg... ORPHA:313892
Intellectual Developmental Disorder, Autosomal Recessive 41
Motor stereotypy, Anxiety, Self-injurious behavior OMIM:615637
Rett Syndrome
Motor stereotypy, Failure to thrive, Inability to walk, Bradykinesia, Stereotypical hand wringing... ORPHA:778
Parkinson Disease 7, Autosomal Recessive Early-Onset
Parkinsonism with favorable response to dopaminergic medication, Blepharospasm, Bradykinesia, Res... OMIM:606324
Short Stature, Developmental Delay, And Congenital Heart Defects
Motor stereotypy, Self-injurious behavior, Attention deficit hyperactivity disorder OMIM:617044
Stiff-Person Syndrome
Agoraphobia, Fever, Exaggerated startle response, Opisthotonus, Depression, Anxiety, Rigidity, My... OMIM:184850
Non-Progressive Cerebellar Ataxia With Intellectual Disability
Ataxia, Dysmetria, Abnormal social behavior, Intention tremor, Nonprogressive cerebellar ataxia, ... ORPHA:314647
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome
Failure to thrive, Anxiety, Oromotor apraxia, Attention deficit hyperactivity disorder, Spasticit... ORPHA:391372
Angelman Syndrome
Broad-based gait, Happy demeanor, Ataxia, Inability to walk, Self-injurious behavior, Poor eye co... ORPHA:72
Acquired Hypertrichosis Lanuginosa
Abnormal eyebrow morphology, Generalized hirsutism, Ovarian neoplasm, Hypopigmentation of hair, F... ORPHA:2221
Neuroleptic Malignant Syndrome
Hypothermia, Fever, Extrapyramidal muscular rigidity, Anxiety, Chorea, Tremor ORPHA:94093
Hereditary Sensory And Autonomic Neuropathy Type 4
Recurrent fever, Hypothermia, Impulsivity, Hyperactivity, Self-mutilation, Abnormal emotion/affec... ORPHA:642
Developmental And Epileptic Encephalopathy 30
Motor stereotypy OMIM:616341
Vogt-Koyanagi-Harada Disease
Sparse scalp hair, Abnormal eyebrow morphology, Poliosis, Abnormal eyelash morphology, Vitiligo, ... ORPHA:3437
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Hypopigmentation of hair, Alopecia ORPHA:1067
Radio-Tartaglia Syndrome
Gait imbalance, Motor stereotypy, Ataxia, Impulsivity, Poor eye contact, Tremor, Attention defici... OMIM:619312
Oculocutaneous Albinism
Ocular albinism, Generalized hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of ... ORPHA:55
Coffin-Siris Syndrome 6
Motor stereotypy, Anxiety, Tics, Attention deficit hyperactivity disorder OMIM:617808
Potocki-Lupski Syndrome
Motor stereotypy, Failure to thrive, Hyperactivity, Poor eye contact, Small for gestational age OMIM:610883
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Hypothermia, Small for gestational age OMIM:618775
Nmda Receptor Encephalitis
Motor stereotypy, Fever, Opisthotonus, Depression, Myoclonus, Anxiety, No social interaction, Rig... ORPHA:217253
Neurodevelopmental Disorder With Or Without Autistic Features And/Or Structural Brain Abnormalities
Inappropriate laughter, Recurrent hand flapping, Spasticity OMIM:618859
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Hypothermia, Fever, Self-injurious behavior, Depression, Aggressive behavior, Emotional lability,... ORPHA:293987
Smith-Magenis Syndrome
Motor stereotypy, Head-banging, Hyperactivity, Self-mutilation, Increased body weight OMIM:182290
Ataxia-Telangiectasia
Premature graying of hair, Hypopigmentation of hair, Polycystic ovaries, Multiple cafe-au-lait sp... ORPHA:100
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly
Motor stereotypy, Attention deficit hyperactivity disorder, Aggressive behavior OMIM:618825
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type
Motor stereotypy, Hyperactivity, Self-mutilation, Gait ataxia, Spasticity, Low frustration tolerance OMIM:300486
Genetic Transient Congenital Hypothyroidism
Hypothermia, Lethargy ORPHA:226316
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Motor stereotypy, Hyperactivity, Aggressive behavior, Irritability ORPHA:391307
Piebald Trait
Piebaldism, Absent pigmentation of the ventral chest, Partial albinism, Heterochromia iridis, Whi... OMIM:172800
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
Motor stereotypy, Ataxia, Poor eye contact, No social interaction, Head tremor OMIM:619428
Dentici-Novelli Neurodevelopmental Syndrome
Motor stereotypy, Hypertonia, Inability to walk OMIM:619877
Dystonia-Aphonia Syndrome
Cognitive impairment, Myoclonus, Anxiety, Gait disturbance, Unsteady gait ORPHA:412217
Hermansky-Pudlak Syndrome 3
Hypopigmentation of the skin, Albinism, Hypopigmentation of hair OMIM:614072
Waardenburg Syndrome
Abnormal vagina morphology, Abnormal eyebrow morphology, Hypopigmentation of hair, Abnormality of... ORPHA:3440
Waardenburg Syndrome, Type 4C
Premature graying of hair, Blue irides, White eyebrow, White eyelashes, Heterochromia iridis, Whi... OMIM:613266
Inverted Duplicated Chromosome 15 Syndrome
Motor stereotypy, Hyperactivity, Aggressive behavior, Self-biting ORPHA:3306
White-Sutton Syndrome
Overfriendliness, Failure to thrive, Motor stereotypy, Self-injurious behavior, Hyperactivity, An... OMIM:616364
Cystinosis
Motor stereotypy, Failure to thrive, Fever, Abnormal pyramidal sign, Gait disturbance ORPHA:213
Intellectual Developmental Disorder, Autosomal Dominant 52
Motor stereotypy, Hyperactivity, Small for gestational age, Anxiety, Overweight, Irritability OMIM:617796
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Ataxia, Isometric tremor, Falls, Tics, Spasticity, Emotional lability, Impaired social interactio... OMIM:619475
Neurodevelopmental Disorder With Hypotonia, Seizures, And Absent Language
Self-injurious behavior, Recurrent hand flapping OMIM:617268
Autism, Susceptibility To, 3
Motor stereotypy, Impaired ability to form peer relationships, Abnormal nonverbal communicative b... OMIM:608049
Intellectual Developmental Disorder, Autosomal Recessive 13
Hyperactivity, Recurrent hand flapping, Truncal obesity OMIM:613192
Hypothyroidism Due To Tsh Receptor Mutations
Hypothermia, Lethargy ORPHA:90673
Oculocutaneous Albinism Type 2
Hyperpigmented nevi, Abnormality of retinal pigmentation, Blue irides, Hypopigmentation of the sk... ORPHA:79432
Proximal 16P11.2 Microdeletion Syndrome
Motor stereotypy, Failure to thrive, Speech apraxia, Choreoathetosis, Attention deficit hyperacti... ORPHA:261197
48,Xxxy Syndrome
Abnormal social behavior, Anxiety, Tremor, Attention deficit hyperactivity disorder, Abnormal agg... ORPHA:96263
Galloway-Mowat Syndrome 6
Motor stereotypy, Decreased body weight, Paroxysmal bursts of laughter OMIM:618347
Marbach-Schaaf Neurodevelopmental Syndrome
Torticollis, Happy demeanor, Recurrent hand flapping, Tremor, Speech apraxia, Attention deficit h... OMIM:619680
Piebald Trait With Neurologic Defects
White forelock, Absent pigmentation of the ventral chest OMIM:172850
Choreoacanthocytosis
Mental deterioration, Falls, Chorea, Emotional lability, Weight loss, Slurred speech, Bradyphreni... ORPHA:2388
Phelan-Mcdermid Syndrome
Broad-based gait, Motor stereotypy, Poor eye contact, Heat intolerance, Tongue thrusting, Aggress... OMIM:606232
Smith-Magenis Syndrome
Motor stereotypy, Self-injurious behavior, Anxiety, Gait disturbance, Attention deficit hyperacti... ORPHA:819
Trigeminal Neuralgia
Depression, Episodic paroxysmal anxiety, Allodynia ORPHA:221091
Oculocutaneous Albinism Type 1
Blue irides, Generalized hypopigmentation, Iris hypopigmentation, White eyebrow, White eyelashes,... ORPHA:352731
Ectodermal Dysplasia, Hidrotic, Christianson-Fourie Type
Sparse scalp hair, Fair hair, Absent eyebrow, Sparse axillary hair, Sparse eyelashes, Short eyela... OMIM:601375
Ritscher-Schinzel Syndrome 4
Motor stereotypy, Ataxia, Impulsivity, Chorea, Athetosis, Aggressive behavior OMIM:619435
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Broad-based gait, Hypothermia, Inability to walk, Exaggerated startle response, Myoclonus, Stereo... ORPHA:438213
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Torticollis, Motor stereotypy, Inability to walk, Spastic diplegia, Delayed social development, S... ORPHA:300570
Intellectual Developmental Disorder With Autism And Dysmorphic Facies
Attention deficit hyperactivity disorder, Recurrent hand flapping OMIM:620021
Squalene Synthase Deficiency
Hypospadias, Bilateral cryptorchidism, Abnormality of hair pigmentation OMIM:618156
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Motor stereotypy, Failure to thrive, Self-mutilation, Tremor, Gait ataxia, Attention deficit hype... ORPHA:476126
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Hypopigmentation of the skin, Iris hypopigmentation, Hypopigmentation of hair ORPHA:411515
Oculocutaneous Albinism Type 1B
Abnormality of retinal pigmentation, Hypopigmentation of the skin, Hypopigmentation of hair, Iris... ORPHA:79434
Blepharophimosis-Impaired Intellectual Development Syndrome
Overfriendliness, Motor stereotypy, Attention deficit hyperactivity disorder, Low frustration tol... OMIM:619293
Alazami Syndrome
Motor stereotypy, Anxiety, Stereotypical hand wringing, Self-mutilation ORPHA:319671
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Overfriendliness, Ataxia, Hyperactivity, Spastic paraparesis, Aggressive behavior, Incoordination ORPHA:369891
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome
Motor stereotypy, Ataxia, Poor eye contact, Self-mutilation, Hyperkinetic movements, Chorea, Self... ORPHA:522077
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15
Gait imbalance, Broad-based gait, Heat intolerance, Tongue thrusting ORPHA:98795
Bilateral Generalized Polymicrogyria
Motor stereotypy, Self-injurious behavior, Spasticity, Spastic tetraplegia, Paroxysmal dyskinesia... ORPHA:208447
4Q21 Microdeletion Syndrome
Motor stereotypy, Tremor, Self-injurious behavior ORPHA:238750
Intellectual Developmental Disorder, Autosomal Recessive 71
Motor stereotypy, Hyperactivity, Attention deficit hyperactivity disorder OMIM:618504
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Motor stereotypy, Hypertonia, Impulsivity, Self-injurious behavior, Cerebral palsy, Aggressive be... OMIM:618914
Obesity Due To Prohormone Convertase I Deficiency
Hypopigmentation of the skin, Red hair ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Hypopigmentation of the skin, Red hair ORPHA:71526
Neurodevelopmental Disorder With Hypotonia, Impaired Language, And Dysmorphic Features
Overfriendliness, Incoordination, Gait ataxia, Motor stereotypy OMIM:616579
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Hypopigmentation of the skin, Cafe-au-lait spot, Hypopigmentation of hair, Reduced renal corticom... OMIM:618541
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Red hair OMIM:609734
Macrocephaly-Developmental Delay Syndrome
Motor stereotypy, Anxiety, Self-injurious behavior ORPHA:397612
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
Motor stereotypy, Inability to walk, Self-injurious behavior, Poor eye contact, Limb hypertonia, ... ORPHA:457351
Menkes Disease
Hypothermia, Spasticity, Chorea, Hypertonia ORPHA:565
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Hypopigmentation of hair, Abnormal reproductive system morphology ORPHA:70472
Developmental And Epileptic Encephalopathy 26
Stereotypical hand wringing OMIM:616056
Congenital Disorder Of Glycosylation, Type Iia
Motor stereotypy, Failure to thrive, Hypertonia, Self-mutilation, Aggressive behavior, Unsteady gait OMIM:212066
Rauch-Steindl Syndrome
Motor stereotypy, Failure to thrive, Hyperactivity, Anxiety, Aggressive behavior OMIM:619695
Sim1-Related Prader-Willi-Like Syndrome
Precocious puberty, External genital hypoplasia, Micropenis, Hypopigmentation of the skin, Hypogo... ORPHA:398079
Hermansky-Pudlak Syndrome 1
Ocular albinism, Hypopigmentation of the skin, Hypopigmentation of hair, Freckles in sun-exposed ... OMIM:203300
Luscan-Lumish Syndrome
Anxiety, Shyness, Aggressive behavior, Obesity, Slurred speech OMIM:616831
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation
Hypertonia, Myoclonus, Stereotypical hand wringing, Small for gestational age ORPHA:289266
Renal Cysts And Diabetes Syndrome
Nephrolithiasis, Hypoplasia of the uterus, Bicornuate uterus, Atretic vas deferens, Unilateral re... OMIM:137920
Intellectual Developmental Disorder, Autosomal Dominant 34
Broad-based gait, Motor stereotypy OMIM:616351
Autosomal Dominant Non-Syndromic Intellectual Disability
Motor stereotypy, Self-injurious behavior, Chorea, Spasticity, Eyelid myoclonus ORPHA:178469
Ermine Phenotype
Irregular hyperpigmentation, Ocular albinism, Hypopigmentation of hair, Iris hypopigmentation, Hy... ORPHA:999
Dopamine Beta-Hydroxylase Deficiency
Hypothermia ORPHA:230
Kohlschutter-Tonz Syndrome-Like
Motor stereotypy, Ataxia, Decreased body weight, Inability to walk, Upper limb spasticity, Myoclo... OMIM:619229
Wiedemann-Steiner Syndrome
Motor stereotypy, Failure to thrive, Hyperactivity, Anxiety, Psychomotor deterioration, Aggressiv... ORPHA:319182
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Motor stereotypy, Self-injurious behavior, Tremor, Attention deficit hyperactivity disorder, Aggr... OMIM:617061
Griscelli Syndrome Type 2
Partial albinism, Premature graying of hair, Hypopigmentation of hair, Iris hypopigmentation ORPHA:79477
Complex Regional Pain Syndrome
Involuntary movements, Allodynia ORPHA:83452
22Q11.2 Duplication Syndrome
Motor stereotypy, Anxiety, Attention deficit hyperactivity disorder ORPHA:1727
Oculocutaneous Albinism Type 1A
Ocular albinism, Hypopigmentation of the skin, Hypopigmentation of hair, Iris hypopigmentation, A... ORPHA:79431
Developmental And Epileptic Encephalopathy 2
Motor stereotypy, Myoclonus, Inability to walk, Poor eye contact OMIM:300672
Marburg Hemorrhagic Fever
Hypothermia, Fever, Aggressive behavior, Lethargy ORPHA:99826
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Motor stereotypy, Ataxia, Aggressive behavior, Unsteady gait, Low frustration tolerance ORPHA:457279
Albinism, Oculocutaneous, Type Ia
Ocular albinism, Blue irides, Hypopigmentation of hair, Albinism, Absent skin pigmentation, White... OMIM:203100
Intellectual Developmental Disorder, Autosomal Dominant 1
Ataxia, Self-injurious behavior, Poor eye contact, Recurrent hand flapping, Anxiety, Aggressive b... OMIM:156200
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Hypothermia, Overweight, Lethargy ORPHA:226307
Niemann-Pick Disease, Type C2
Motor stereotypy, Ataxia, Cataplexy, Spasticity, Dementia OMIM:607625
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy
Motor stereotypy, Inability to walk OMIM:617802
Carney Complex, Type 1
Hirsutism, Multiple lentigines, Profuse pigmented skin lesions, Freckling, Red hair OMIM:160980
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities
Obesity, Stereotypical hand wringing, Hypertonia OMIM:619854
X-Linked Intellectual Disability, Cantagrel Type
Motor stereotypy, Tetraparesis ORPHA:85277
Intellectual Developmental Disorder, Autosomal Dominant 48
Motor stereotypy, Hyperactivity OMIM:617751
Bainbridge-Ropers Syndrome
Motor stereotypy, Failure to thrive, Hypertonia, Inability to walk, Self-injurious behavior, Recu... OMIM:615485
49,Xxxxy Syndrome
Overfriendliness, Tremor, Attention deficit hyperactivity disorder, Shyness, Irritability, Low fr... ORPHA:96264
Microphthalmia-Brain Atrophy Syndrome
Spasticity, Tongue thrusting, Inappropriate crying ORPHA:77299
7Q11.23 Microduplication Syndrome
Motor stereotypy, Self-injurious behavior, Hyperactivity, Dysmetria, Anxiety, Aggressive behavior... ORPHA:96121
Orthostatic Hypotension 1
Intermittent hypothermia OMIM:223360
Prader-Willi Syndrome Due To Translocation
Motor stereotypy, Happy demeanor, Head-banging, Abnormal social behavior, Anxiety, Attention defi... ORPHA:177907
Developmental And Epileptic Encephalopathy 87
Hypertonia, Recurrent hand flapping OMIM:618916
Leber Congenital Amaurosis 2
Eye poking OMIM:204100
Hypothyroidism, Congenital, Nongoitrous, 2
Hypothermia, Lethargy OMIM:218700
Intellectual Developmental Disorder, Autosomal Dominant 38
Motor stereotypy, Ataxia, Self-injurious behavior, Aggressive behavior, Hair-pulling OMIM:616393
Coffin-Siris Syndrome 7
Motor stereotypy, Hyperactivity OMIM:618027
Muenke Syndrome
Hypopigmentation of hair, Hypermelanotic macule, Hypopigmented skin patches ORPHA:53271
Magel2-Related Prader-Willi-Like Syndrome
Precocious puberty, External genital hypoplasia, Micropenis, Hypopigmentation of the skin, Hypopi... ORPHA:398069
Leber Congenital Amaurosis 1
Eye poking OMIM:204000
Koolen-De Vries Syndrome
Abnormality of hair texture, Hypospadias, Hypopigmentation of hair, Ureteral duplication, Hydrone... ORPHA:96169
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Motor stereotypy, Head-banging, Attention deficit hyperactivity disorder OMIM:619103
Dihydropyrimidine Dehydrogenase Deficiency
Hypertonia, Inability to walk, Abnormal social behavior, Abnormal aggressive, impulsive or violen... ORPHA:1675
Chromosome 5P13 Duplication Syndrome
Motor stereotypy, Small for gestational age OMIM:613174
Deaf Blind Hypopigmentation Syndrome, Yemenite Type
Hypopigmentation of hair, Iris hypopigmentation, Freckling, Hyperpigmentation of the skin, Multip... ORPHA:3214
Kleefstra Syndrome 1
Motor stereotypy, Obesity, Apathy, Aggressive behavior OMIM:610253
Fg Syndrome Type 1
Broad-based gait, Slender build, Attention deficit hyperactivity disorder, Abnormal social behavior ORPHA:93932
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities
Motor stereotypy, Failure to thrive, Hypertonia, Babinski sign, Spasticity, Inappropriate laughter OMIM:615802
Helsmoortel-Van Der Aa Syndrome
Motor stereotypy, Obesity, Hyperactivity OMIM:615873
Hypohidrotic Ectodermal Dysplasia
Nephrotic syndrome, Irregular hyperpigmentation, Abnormal hair quantity, Aplasia/Hypoplasia of th... ORPHA:238468
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome
Broad-based gait, Failure to thrive, Heat intolerance, Hemiparesis, Tongue thrusting, Aggressive ... ORPHA:369950
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)
Slender build, Allodynia, Cachexia, Weight loss, Dementia OMIM:603041
3P25.3 Microdeletion Syndrome
Motor stereotypy, Ataxia, Attention deficit hyperactivity disorder ORPHA:435638
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome
Motor stereotypy, Hypertonia, Hair-pulling, Hyperactivity, Myoclonic spasms, Clonus, Lower limb s... ORPHA:447997
Anterior Cutaneous Nerve Entrapment Syndrome
Decreased body weight, Allodynia ORPHA:51890
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Precocious puberty, External genital hypoplasia, Hypopigmentation of the skin, Hypogonadotropic h... ORPHA:98754
Pyruvate Carboxylase Deficiency
Failure to thrive, Apathy, Ataxia, Poor eye contact, Recurrent hand flapping, Tip-toe gait, Abnor... ORPHA:3008
Transketolase Deficiency
Motor stereotypy, Self-injurious behavior, Attention deficit hyperactivity disorder ORPHA:488618
21Q22.11Q22.12 Microdeletion Syndrome
Self-injurious behavior, Hyperactivity, Stereotypical body rocking, Inappropriate crying, Tongue ... ORPHA:261323
Classic Phenylketonuria
Hypopigmentation of the skin, Hypopigmentation of hair ORPHA:79254
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Precocious puberty, External genital hypoplasia, Hypopigmentation of the skin, Hypogonadotropic h... ORPHA:98793
Prader-Willi Syndrome
Precocious puberty, External genital hypoplasia, Micropenis, Generalized hypopigmentation, Hypogo... OMIM:176270
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Motor stereotypy, Agoraphobia, Abnormal fear/anxiety-related behavior, Social and occupational de... ORPHA:353281
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Precocious puberty, External genital hypoplasia, Hypopigmentation of the skin, Hypogonadotropic h... ORPHA:177904
X-Linked Intellectual Disability, Cilliers Type
Failure to thrive, Shyness ORPHA:163971
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Precocious puberty, External genital hypoplasia, Hypopigmentation of the skin, Hypogonadotropic h... ORPHA:177901
Joubert Syndrome 6
Motor stereotypy, Oculomotor apraxia, Ataxia OMIM:610688
Occipital Horn Syndrome
Hypothermia ORPHA:198
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
Motor stereotypy, Failure to thrive, Head-banging, Self-injurious behavior, Attention deficit hyp... OMIM:619575
White-Sutton Syndrome
Motor stereotypy, Self-injurious behavior, Hyperactivity, Incoordination, Aggressive behavior, Ob... ORPHA:468678
Tuberous Sclerosis Complex
Impulsivity, Self-injurious behavior, Hyperactivity, Abnormal social behavior, Depression, Anxiet... ORPHA:805
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Motor stereotypy, Failure to thrive, Small for gestational age, Anxiety, Gait disturbance, Attent... ORPHA:464311
D-Glyceric Aciduria
Failure to thrive, Opisthotonus, Myoclonus, Tongue thrusting, Spasticity, Spastic tetraplegia OMIM:220120
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
Motor stereotypy, Ataxia, Cataplexy, Progressive spasticity, Spasticity, Fasciculations, Tetraplegia ORPHA:496641
Prader-Willi Syndrome
Precocious puberty, External genital hypoplasia, Hypopigmentation of the skin, Hypopigmentation o... ORPHA:739
Pitt-Hopkins Syndrome
Motor stereotypy, Incoordination, Gait ataxia, Self-injurious behavior OMIM:610954
Bainbridge-Ropers Syndrome
Hypertonia, Inability to walk, Recurrent hand flapping ORPHA:352577
5Q14.3 Microdeletion Syndrome
Motor stereotypy ORPHA:228384
Prader-Willi-Like Syndrome
Precocious puberty, External genital hypoplasia, Hypopigmentation of the skin, Hypogonadotropic h... ORPHA:398073
Dyrk1A-Related Intellectual Disability Syndrome
Motor stereotypy, Failure to thrive, Hyperactivity, Small for gestational age, Anxiety, Gait dist... ORPHA:464306
Optic Atrophy-Intellectual Disability Syndrome
Attention deficit hyperactivity disorder, Spasticity, Repetitive compulsive behavior ORPHA:401777
Van Esch-O'Driscoll Syndrome
Motor stereotypy, Impulsivity, Poor eye contact, Unilateral vocal cord paralysis, Attention defic... OMIM:301030
Hoyeraal-Hreidarsson Syndrome
Sparse scalp hair, Generalized hyperpigmentation, Nail dystrophy, Generalized hypopigmentation of... ORPHA:3322
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities
Broad-based gait, Motor stereotypy, Ataxia, Poor gross motor coordination, Hyperactivity, Dysmetr... OMIM:614756
Mend Syndrome
Failure to thrive, Hyperactivity, Abnormal social behavior, Limb hypertonia, Aggressive behavior ORPHA:401973
Von Hippel-Lindau Syndrome
Papillary cystadenoma of the epididymis, Epididymal cyst, Multiple renal cysts OMIM:193300
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Motor stereotypy ORPHA:500159
Kleefstra Syndrome
Motor stereotypy, Self-injurious behavior, Self-mutilation, Aggressive behavior, Obesity ORPHA:261494
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia
Motor stereotypy, Decreased body weight, Attention deficit hyperactivity disorder, Self-mutilation OMIM:619005
Sarcoidosis
Hypothermia, Fever, Weight loss ORPHA:797
Megalocornea-Intellectual Disability Syndrome
Motor stereotypy, Ataxia ORPHA:2479
Floating-Harbor Syndrome
Hirsutism, Hypospadias, Glandular hypospadias, Varicocele, Long eyelashes, Nephrocalcinosis, Hydr... OMIM:136140
2Q37 Microdeletion Syndrome
Motor stereotypy, Obesity, Attention deficit hyperactivity disorder ORPHA:1001
Oculocerebral Hypopigmentation Syndrome, Cross Type
Ocular albinism, Hypopigmentation of hair, Ureteral stenosis, Iris hypopigmentation, Cryptorchidism ORPHA:2719
Chromosome Xp11.23-P11.22 Duplication Syndrome