Intellectual disability, severe, and Pectus excavatum

Diseases related with Intellectual disability, severe and Pectus excavatum

In the following list you will find some of the most common rare diseases related to Intellectual disability, severe and Pectus excavatum that can help you solving undiagnosed cases.

Top matches:

Related symptoms:

  • Intellectual disability
  • Scoliosis
  • High palate
  • Macrocephaly
  • Frontal bossing


SOURCES: OMIM MESH MENDELIAN

More info about MENTAL RETARDATION, X-LINKED, SYNDROMIC 14; MRXS14

High match TRISOMY XQ28

Distal Xq duplications refer to chromosomal disorders resulting from involvement of the long arm of the X chromosome (Xq). Clinical manifestations vary widely depending on the gender of the patient and on the gene content of the duplicated segment. The prevalence of Xq duplications remains unknown.

TRISOMY XQ28 Is also known as distal duplication xq|telomeric duplication xq

Related symptoms:

  • Global developmental delay
  • Short stature
  • Cryptorchidism
  • Ptosis
  • Epicanthus


SOURCES: ORPHANET MENDELIAN

More info about TRISOMY XQ28

Christianson syndrome is a very rare form of syndromic intellectual deficit characterized by microcephaly, severe developmental delay or regression, hypotonia, abnormal movements, and early-onset seizures.

CHRISTIANSON SYNDROME Is also known as x-linked angelman-like syndrome|x-linked intellectual disability, south african type|mental retardation, microcephaly, epilepsy, and ataxia syndrome|x-linked intellectual disability-craniofacial dysmorphism-epilepsy-ophthalmoplegia-cerebellar atrophy synd

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about CHRISTIANSON SYNDROME

Other less relevant matches:

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Hearing impairment
  • Microcephaly


SOURCES: OMIM MENDELIAN

More info about MICROCEPHALY, SHORT STATURE, AND IMPAIRED GLUCOSE METABOLISM 2; MSSGM2

Fragile X syndrome (FXS) is a rare genetic disease associated with mild to severe intellectual deficit that may be associated with behavioral disorders and characteristic physical features.

FRAGILE X SYNDROME Is also known as marker x syndrome|fraxa syndrome|martin-bell syndrome|mental retardation, x-linked, associated with marxq28|fragile x mental retardation syndrome|frax syndrome|fxs|x-linked mental retardation and macroorchidism

Related symptoms:

  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Scoliosis
  • Strabismus


SOURCES: OMIM ORPHANET MENDELIAN

More info about FRAGILE X SYNDROME

Syndromic X-linked intellectual disability due to JARID1C mutation is characterised by mild to severe intellectual deficit associated with variable clinical manifestations including spasticity, cryptorchidism, maxillary hypoplasia, alopecia areata, epilepsy, short stature, impaired speech and behavioural problems. To date, it has been described in less than 15 families. Transmission is X-linked recessive and the syndrome is caused by mutations in the JARID1C (SMCX) gene encoding a JmjC-domain protein with histone demethylase activity.

SYNDROMIC X-LINKED INTELLECTUAL DISABILITY DUE TO JARID1C MUTATION Is also known as mental retardation, x-linked, syndromic, jarid1c-related|mrxsj

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Generalized hypotonia
  • Microcephaly


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about SYNDROMIC X-LINKED INTELLECTUAL DISABILITY DUE TO JARID1C MUTATION

Allan-Herndon-Dudley syndrome (AHDS) is an X-linked intellectual disability syndrome with neuromuscular involvement characterized by infantile hypotonia, muscular hypoplasia, spastic paraparesis with dystonic/athetoic movements, and severe cognitive deficiency.

ALLAN-HERNDON-DUDLEY SYNDROME Is also known as x-linked intellectual disability-hypotonia syndrome|t3 resistance|allan-herndon syndrome|triiodothyronine resistance|monocarboxylate transporter 8 deficiency|mct8 deficiency|mental retardation and muscular atrophy|mental retardation, x-linked, with hypoto

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Scoliosis


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about ALLAN-HERNDON-DUDLEY SYNDROME

Fukuyama type muscular dystrophy (FCMD) is a congenital progressive muscular dystrophy characterized by brain malformation (cobblestone lissencephaly), dystrophic changes in skeletal muscle, severe intellectual deficit, epilepsy and motor impairment.

CONGENITAL MUSCULAR DYSTROPHY, FUKUYAMA TYPE Is also known as walker-warburg syndrome or muscle-eye-brain disease, fktn-related|fukuyama congenital muscular dystrophy|fcmd

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Scoliosis


SOURCES: OMIM ORPHANET MENDELIAN

More info about CONGENITAL MUSCULAR DYSTROPHY, FUKUYAMA TYPE

Van den Ende-Gupta syndrome is a very rare syndrome characterized by blepharophimosis, arachnodactyly, joint contractures, and characteristic dysmorphic features.

VAN DEN ENDE-GUPTA SYNDROME Is also known as marden-walker-like syndrome|vdegs|blepharophimosis, arachnodactyly, and congenital contractures|marden-walker-like syndrome without psychomotor retardation

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Hypertelorism


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about VAN DEN ENDE-GUPTA SYNDROME

High match MGAT2-CDG

MGAT2-CDG is a form of congenital disorders of N-linked glycosylation characterized by facial dysmorphism (large, posteriorly rotated ears with prominent antihelices, convex nasal ridge, open mouth, large and crowded teeth), stereotypic hand movements, seizures, and varying degrees of developmental delay. A bleeding tendency is also observed and this results from diminished platelet aggregation. The disease is caused by loss-of-function mutations in the gene MGAT2 (14q21).

MGAT2-CDG Is also known as cdg2a|cdgiia|cdg syndrome type iia|congenital disorder of glycosylation type iia|carbohydrate deficient glycoprotein syndrome type iia|n-acetylglucosaminyltransferase 2 deficiency|cdg-iia|alkuraya syndrome|carbohydrate-deficient glycoprotein syndrome, typ

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about MGAT2-CDG

Top 5 symptoms//phenotypes associated to Intellectual disability, severe and Pectus excavatum

Symptoms // Phenotype % cases
Intellectual disability Very Common - Between 80% and 100% cases
Macrotia Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases

Other less frequent symptoms

Patients with Intellectual disability, severe and Pectus excavatum. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases

Microcephaly

Uncommon Symptoms - Between 30% and 50% cases

Macrocephaly Protruding ear Short stature Intellectual disability, progressive High palate Absent speech Skeletal muscle atrophy Flexion contracture Scoliosis Severe global developmental delay Muscular hypotonia Strabismus Long face Mandibular prognathia Narrow face Gastroesophageal reflux Growth delay Delayed speech and language development Spasticity Hypoplasia of the maxilla Autism Hyperreflexia Aggressive behavior Everted lower lip vermilion Neonatal hypotonia Abnormal facial shape Prominent nasal bridge Gait disturbance Pes planus Camptodactyly of finger Cryptorchidism Open mouth Feeding difficulties

Rare Symptoms - Less than 30% cases

Hypermetropia Narrow mouth Paraplegia Macroorchidism Spastic paraplegia Knee flexion contracture Downslanted palpebral fissures Intrauterine growth retardation Dysarthria Micrognathia Hearing impairment High, narrow palate Atrophy/Degeneration affecting the brainstem Interphalangeal joint contracture of finger Bowel incontinence Brachycephaly Hyperkinesis Aplasia/Hypoplasia of the corpus callosum Sensorineural hearing impairment Babinski sign Hypothyroidism Talipes equinovarus Atrial septal defect Wide mouth Failure to thrive Cognitive impairment Convex nasal ridge Hypoplasia of the brainstem Type I diabetes mellitus Myopia Hallux valgus Narrow nasal bridge Kyphoscoliosis Large hands Clonus Round face Slender long bone Intellectual disability, moderate Dilatation Upslanted palpebral fissure Thin upper lip vermilion Sparse hair Truncal ataxia Drooling Stereotypy Ventriculomegaly Poor speech Motor delay Malar flattening Arthrogryposis multiplex congenita Feeding difficulties in infancy Deeply set eye Gait ataxia Cerebral cortical atrophy Dystonia Abnormality of the pinna Unsteady gait Nystagmus Ataxia Diastema Ptosis Generalized muscle weakness Neurological speech impairment Epicanthus Blepharophimosis Joint stiffness Delayed skeletal maturation Muscle weakness Abnormality of the foot Generalized amyotrophy Narrow chest Frontal bossing Respiratory distress Urinary incontinence Intellectual disability, mild Involuntary movements Decreased body weight Arachnodactyly Thick eyebrow Hemivertebrae EMG abnormality Transposition of the great arteries Spinal rigidity Cortical dysplasia Congenital hip dislocation Bradycardia Multiple joint contractures Calf muscle hypertrophy Increased variability in muscle fiber diameter Plagiocephaly Rotary nystagmus Skeletal muscle hypertrophy Hypoplasia of the zygomatic bone Hypoplasia of the musculature Delayed CNS myelination Abnormality of the neck Biparietal narrowing Hyperactive deep tendon reflexes Holoprosencephaly Lissencephaly Mask-like facies Increased thyroid-stimulating hormone level Central hypotonia Congenital muscular dystrophy Preauricular skin tag Abnormal conjugate eye movement Pachygyria Muscular dystrophy Microphthalmia Anencephaly Areflexia Elevated serum creatine phosphokinase Myopathy Cerebellar hypoplasia Agenesis of corpus callosum Hydrocephalus Glaucoma EEG abnormality Rigidity Apnea Respiratory insufficiency Hip dislocation Dilated cardiomyopathy Encephalocele Stahl ear Cerebellar vermis hypoplasia Brain atrophy Abnormal cerebellum morphology Retinal detachment Polymicrogyria Prominent antihelix Pulmonic stenosis Dolichocephaly Underfolded superior helices Cataract Visual impairment Optic atrophy Congenital cataract Abnormality of the cerebral white matter Weak cry Stridor Ankle contracture Abnormality of the dentition Respiratory tract infection Postnatal growth retardation Proteinuria Retrognathia Osteopenia Posteriorly rotated ears Recurrent respiratory infections Long philtrum Hypertonia Hirsutism Diarrhea Short neck Ventricular septal defect Peripheral neuropathy Slender metacarpals Long metacarpals Glenoid fossa hypoplasia Distal ulnar hypoplasia Thin vermilion border Bilateral sensorineural hearing impairment Camptodactyly of toe Abnormality of the rib cage Type II transferrin isoform profile Reduced factor XII activity Reduced factor XI activity Reduced factor IX activity Abnormal isoelectric focusing of serum transferrin Reduced antithrombin III activity Thoracolumbar kyphoscoliosis Macrodontia Volvulus Long eyelashes Low hanging columella Self-mutilation Protruding tongue Abnormality of the coagulation cascade Proximal placement of thumb Coxa valga Gingival overgrowth Tall stature Narrow foot Ulnar bowing Retinal dysplasia Cephalocele Craniosynostosis Camptodactyly Hydronephrosis Abnormality of the skeletal system Depressed nasal bridge Cleft palate Hypertelorism Hypoplasia of the pyramidal tract Thoracic hemivertebrae Asthma Hypoglycosylation of alpha-dystroglycan Agyria Cerebellar cyst Exaggerated startle response Type II lissencephaly Cerebellar dysplasia Buphthalmos Myocardial fibrosis Triangular face Underdeveloped nasal alae Long hallux Dislocated radial head Lateral clavicle hook Eclabion Hypoplastic scapulae Choanal stenosis Single umbilical artery Sclerocornea Abnormal eyebrow morphology Narrow nose Thin ribs Dandy-Walker malformation Femoral bowing Congenital contracture Laryngomalacia Elbow flexion contracture Cardiac arrest Joint contracture of the hand Dental crowding Bowing of the long bones Ambiguous genitalia Aphasia Clinodactyly Myopathic facies Hyperlordosis Hypotelorism Delayed myelination Full cheeks Downturned corners of mouth Dysmetria Delayed puberty Small for gestational age Diabetes mellitus Renal hypoplasia Hypoplasia of the corpus callosum Tremor Loss of ability to walk in first decade Photosensitive tonic-clonic seizures Conspicuously happy disposition Inappropriate laughter Happy demeanor Blue sclerae Fine hair Dyslexia Maternal diabetes Depressivity Obesity Midface retrusion Increased vertebral height Kinetic tremor Recurrent hypoglycemia Prominent superficial veins Down-sloping shoulders Abnormal vertebral morphology Ketoacidosis High pitched voice Brisk reflexes Polyuria Hyperglycemia Polydipsia Oligodontia Abnormality of the nose Slender finger High forehead Slender build Cerebellar atrophy Dysphagia Pain Hernia of the abdominal wall Abnormality of chromosome segregation Tented upper lip vermilion Hypospadias Long foot Abnormality of the eye Abnormality of the musculature Abnormality of the sternum Nasal speech Growth abnormality Pectus carinatum Prominent forehead Kyphosis Encephalopathy Developmental regression Long nose Infantile muscular hypotonia Dysphasia Decreased muscle mass Aplasia/Hypoplasia of the cerebellum Abnormality of the thorax Cachexia Adducted thumb Mutism Postnatal microcephaly Ophthalmoplegia Intellectual disability, profound Generalized-onset seizure Neuronal loss in central nervous system Epileptic encephalopathy Sleep disturbance Joint hyperflexibility Abnormality of eye movement Hyperactivity Coarse facial features Athetosis Multiple cafe-au-lait spots Lower limb hypertonia Alopecia areata Furrowed tongue Shuffling gait Distal lower limb amyotrophy Facial hypotonia Restlessness Progressive spastic paraplegia Small forehead Lower limb hyperreflexia Decreased testicular size Tapered finger Short foot Short distal phalanx of finger Short palm Falls Low frustration tolerance Talipes calcaneovarus Micropenis Narrow forehead CNS hypomyelination Poor head control Muscle stiffness Bilateral single transverse palmar creases Leukodystrophy Choreoathetosis Spastic tetraplegia Cerebral calcification Hyporeflexia Increased serum lactate Tetraplegia Inability to walk Abnormality of movement Irritability Abnormality of the nervous system Proptosis Smooth philtrum Brachydactyly Anxiety Overgrowth Chronic otitis media Premature ovarian insufficiency Relative macrocephaly Sinusitis Hyperpigmentation of the skin Heterotopia Mitral valve prolapse Otitis media Abnormality of neuronal migration Postural instability Thick vermilion border Joint hypermobility Facial asymmetry Attention deficit hyperactivity disorder Autistic behavior Joint laxity Self-injurious behavior Polyphagia Severe temper tantrums Periventricular gray matter heterotopia Congenital macroorchidism Folate-dependent fragile site at Xq28 Increased size of the mandible Macroorchidism, postpubertal Finger joint hypermobility Encopresis Oppositional defiant disorder Abnormal head movements Broad palm Shyness Irregular dentition Mood swings Ascending tubular aorta aneurysm Hyperextensibility of the finger joints Enuresis Large forehead Poor eye contact Midfrontal capillary hemangioma


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