Intellectual disability, severe, and Esotropia

Diseases related with Intellectual disability, severe and Esotropia

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

Top matches:

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Strabismus


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, ANTERIOR MAXILLARY PROTRUSION, AND STRABISMUS; MRAMS

Bilateral frontoparietal polymicrogyria (BFPP) is a sub-type of polymicrogyria (PMG; see this term), a cerebral cortical malformation characterized by excessive cortical folding and abnormal cortical layering, that involves the frontoparietal region of the brain and that presents with hypotonia, developmental delay, moderate to severe intellectual disability, pyramidal signs, epileptic seizures, non progressive cerebellar ataxia, dysconjugate gaze and/or strabismus.

BILATERAL FRONTOPARIETAL POLYMICROGYRIA Is also known as cerebellar ataxia with neuronal migration defect

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Microcephaly
  • Ataxia


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about BILATERAL FRONTOPARIETAL POLYMICROGYRIA

Related symptoms:

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


SOURCES: OMIM MESH MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL RECESSIVE 5; MRT5

Other less relevant matches:

PCH11 is an autosomal recessive neurodevelopmental disorder characterized by severely delayed psychomotor development with intellectual disability and poor speech, microcephaly, dysmorphic features, and pontocerebellar hypoplasia on brain imaging. Additional features are more variable (summary by Marin-Valencia et al., 2017).For a general phenotypic description and a discussion of genetic heterogeneity of PCH, see PCH1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about PONTOCEREBELLAR HYPOPLASIA, TYPE 11; PCH11

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about LISSENCEPHALY 3; LIS3

Corpus callosum agenesis-neuronopathy syndrome is a neurodegenerative disorder characterized by severe progressive sensorimotor neuropathy beginning in infancy with resulting hypotonia, areflexia, amyotrophy and variable degrees of dysgenesis of the corpus callosum. Additional features include mild-to-severe intellectual and developmental delays, and psychiatric manifestations that include paranoid delusions, depression, hallucinations, and "autistic-like" features. Affected individuals are usually wheelchair restricted in the second decade of life and die in the third decade of life. The disease is inherited as an autosomal recessive trait.

CORPUS CALLOSUM AGENESIS-NEURONOPATHY SYNDROME Is also known as andermann syndrome|charlevoix disease|polyneuropathy, sensorimotor, with or without agenesis of the corpus callosum|corpus callosum, agenesis of, with neuronopathy

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about CORPUS CALLOSUM AGENESIS-NEURONOPATHY SYNDROME

HYDROCEPHALUS DUE TO CONGENITAL STENOSIS OF AQUEDUCT OF SYLVIUS Is also known as aqueductal stenosis

Related symptoms:

  • Intellectual disability
  • Seizures
  • Microcephaly
  • Hypertelorism
  • Nystagmus


SOURCES: OMIM MENDELIAN

More info about HYDROCEPHALUS DUE TO CONGENITAL STENOSIS OF AQUEDUCT OF SYLVIUS

The newly described 2q23.1 microdeletion syndrome includes severe intellectual deficit with pronounced speech delay, behavioral abnormalities including hyperactivity and inappropriate laughter, short stature and seizures.

2Q23.1 MICRODELETION SYNDROME Is also known as pseudo-angelman syndrome|del(2)(q23.1)|monosomy 2q23.1

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about 2Q23.1 MICRODELETION SYNDROME

Medium match TEMTAMY SYNDROME

Temtamy syndrome is a very rare congenital genetic neurological disorder characterized by agenesis/hypoplasia of corpus callosum with developmental abnormalities, ocular disorders, and variable craniofacial and skeletal abnormalities.

TEMTAMY SYNDROME Is also known as temtamy-shalash syndrome|craniofacial dysmorphism-coloboma-corpus callosum agenesis syndrome|mental retardation with or without craniofacial dysmorphism, ocular coloboma, or abnormal corpus callosum

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about TEMTAMY SYNDROME

Joubert syndrome with orofaciodigital defect (or oral-facial-digital syndrome type 6, OFD6) is a very rare subtype of Joubert syndrome and related disorders (JSRD, see this term) characterized by the neurological features of JS associated with orofacial anomalies and often polydactyly.

OROFACIODIGITAL SYNDROME TYPE 6 Is also known as vÁradi syndrome|polydactyly-cleft lip/palate-psychomotor retardation syndrome|polydactyly, cleft lip/palate or lingual lump, and psychomotor retardation|vÁradi-papp syndrome|joubert syndrome with orofaciodigital defect|oral-facial-digital syndrome type 6|

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about OROFACIODIGITAL SYNDROME TYPE 6

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

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

Other less frequent symptoms

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

Common Symptoms - More than 50% cases

Microcephaly

Uncommon Symptoms - Between 30% and 50% cases

Agenesis of corpus callosum Ataxia Hypertonia Hypertelorism Nystagmus Short stature Delayed speech and language development Ventriculomegaly Long face Motor delay Spasticity Hypermetropia Highly arched eyebrow Myopia Facial asymmetry Abnormal facial shape Prominent nose Ptosis Cryptorchidism Absent speech Dilatation Coarse facial features Intellectual disability, mild Broad-based gait Feeding difficulties Hyperreflexia Dental crowding Hypoplasia of the corpus callosum Frontal bossing High palate Low-set ears Short chin Micrognathia

Rare Symptoms - Less than 30% cases

Dandy-Walker malformation Coloboma Respiratory tract infection Esodeviation Protruding ear Bulbous nose Stereotypy Inability to walk Abnormality of neuronal migration Cerebellar vermis hypoplasia Molar tooth sign on MRI Focal-onset seizure Tetraplegia Spastic tetraplegia Feeding difficulties in infancy Optic atrophy Small hand Autism Gait ataxia Clinodactyly of the 5th finger Clinodactyly Finger clinodactyly Fever Visual impairment Muscular hypotonia Growth delay Bilateral cryptorchidism Brachydactyly Retrognathia Tremor Micropenis Abnormal heart morphology Aqueductal stenosis Abnormality of the nervous system Renal agenesis Hemiplegia/hemiparesis Low anterior hairline Aplasia/Hypoplasia of the corpus callosum EEG abnormality Brachycephaly Short nose Partial agenesis of the corpus callosum Intellectual disability, profound Hyperactivity Abnormal pyramidal sign Telecanthus Thick eyebrow Synophrys Babinski sign Cerebellar hypoplasia Intellectual disability, moderate Prominent nasal bridge Dysarthria Wide nasal bridge Lissencephaly Polymicrogyria Abnormal cerebellum morphology Muscular hypotonia of the trunk Pachygyria Short attention span Hypoplasia of the brainstem Psychosis Poor speech Hearing impairment Hyporeflexia Talipes equinovarus Abnormality of the dentition Skeletal muscle atrophy Postnatal growth retardation Long philtrum Ventricular septal defect Patent ductus arteriosus Pes planus Hydronephrosis Abnormality of the skeletal system Hamartoma of tongue Bulimia Hypothalamic hamartoma Iris coloboma Joint hyperflexibility Congestive heart failure Atrial septal defect Mental deterioration Microphthalmia Mesoaxial polydactyly Hip dislocation Corneal opacity Episodic tachypnea Tongue nodules Dolichocephaly Abnormality of lower lip Downslanted palpebral fissures Self-injurious behavior Hypoplasia of penis Open mouth Generalized hirsutism Absence seizures Sandal gap Widely spaced teeth Infantile muscular hypotonia Tented upper lip vermilion Focal impaired awareness seizure Language impairment Midline notch of upper alveolar ridge Y-shaped metacarpals Macrocephaly Cupped ear Polyphagia Macrodontia Hemifacial hypoplasia Occipital meningocele Mesoaxial hand polydactyly Hypoplasia of olfactory tract Paroxysmal bursts of laughter Lobulated tongue Sensorineural hearing impairment Cataract Depressed nasal bridge Microcornea Accessory oral frenulum Convex nasal ridge Polydactyly Epicanthus Gait disturbance Syndactyly Hernia Inguinal hernia Abnormal retinal morphology Hip dysplasia Preaxial hand polydactyly Radial deviation of finger Trigonocephaly Hand polydactyly Posteriorly rotated ears Preaxial polydactyly Conductive hearing impairment Failure to thrive Cleft lip Low-set, posteriorly rotated ears Polycystic kidney dysplasia Apnea Renal hypoplasia/aplasia Abnormality of the kidney Tachypnea Toe syndactyly Oculomotor apraxia Cleft upper lip Oral cleft Postaxial polydactyly Renal dysplasia Apraxia Cleft palate Tibial bowing Abnormal oral frenulum morphology Bowing of the legs Progressive visual loss Bilateral sensorineural hearing impairment Thick lower lip vermilion Broad nasal tip Short toe Aortic regurgitation Abnormal palate morphology Preaxial foot polydactyly Genu varum Relative macrocephaly Aortic aneurysm Chorioretinal coloboma Unilateral renal agenesis Congenital nystagmus Posterior staphyloma Neurogenic bladder Hypoplasia of teeth Profound global developmental delay Colpocephaly Short femur Short upper lip Meningocele Foot polydactyly Lens luxation Lop ear Hamartoma Biparietal narrowing Scleral staphyloma Short 2nd toe Epileptic encephalopathy Axonal degeneration/regeneration Febrile seizures Happy demeanor Dysphagia Recurrent respiratory infections Difficulty walking Attention deficit hyperactivity disorder Talipes Anal atresia Generalized muscle weakness Progressive neurologic deterioration Limb ataxia Poor eye contact Poor coordination Impaired social interactions Blindness Thick upper lip vermilion Hemiparesis Heterotopia Cerebral visual impairment Cortical dysplasia Cerebellar dysplasia Hemianopia Congenital microcephaly Agyria Scoliosis Muscle weakness Flexion contracture Peripheral neuropathy Areflexia Achilles tendon contracture Brisk reflexes Neonatal hypotonia Cerebral dysmyelination Amblyopia Open bite Hyperplasia of the maxilla Muscular dystrophy Dysmetria Exotropia Truncal ataxia Congenital muscular dystrophy Ankle clonus Type II lissencephaly Nonprogressive cerebellar ataxia Perisylvian polymicrogyria Frontoparietal polymicrogyria Narrow face Polymicrogyria, anterior to posterior gradient Myopathy Elevated serum creatine phosphokinase Pes cavus Sparse hair Blepharophimosis Short philtrum Small for gestational age Smooth philtrum Underdeveloped nasal alae Eczema Hypotelorism Progressive microcephaly Macrotia Facial palsy Sleep disturbance Malar flattening Hydrocephalus Joint stiffness Spastic paraplegia Holoprosencephaly Increased intracranial pressure Adducted thumb Absent septum pellucidum Visceromegaly Oxycephaly Flexion contracture of thumb Vomiting Behavioral abnormality Encephalopathy Abnormal anterior horn cell morphology Constipation Gastroesophageal reflux Thin upper lip vermilion Aggressive behavior Autistic behavior Wide mouth Microtia Broad forehead Astigmatism Short palm Downturned corners of mouth Everted lower lip vermilion Short foot Short neck Decreased sensory nerve conduction velocity Developmental regression CNS hypomyelination Craniosynostosis Abnormality of the cerebral white matter Limb muscle weakness Peripheral axonal neuropathy Sensory neuropathy Tapered finger Polyneuropathy Hypoplasia of the maxilla Narrow forehead Abnormality of retinal pigmentation Sensorimotor neuropathy Paraparesis Decreased nerve conduction velocity Limb tremor Decreased motor nerve conduction velocity 2-3 toe syndactyly Infantile spasms Onion bulb formation Turricephaly Increased CSF protein Facial diplegia Demyelinating peripheral neuropathy Restrictive deficit on pulmonary function testing Motor polyneuropathy Progressive peripheral neuropathy EMG: chronic denervation signs Diffuse white matter abnormalities Central Y-shaped metacarpal


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