Intellectual disability, severe, and Deeply set eye

Diseases related with Intellectual disability, severe and Deeply set eye

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

Top matches:

MENTAL RETARDATION, AUTOSOMAL RECESSIVE 7; MRT7 Is also known as mrt22|mental retardation, autosomal recessive 22

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Microcephaly
  • Hypertelorism


SOURCES: OMIM MESH MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL RECESSIVE 7; MRT7

MENTAL RETARDATION, AUTOSOMAL DOMINANT 38; MRD38 Is also known as psychomotor retardation, epilepsy, and language disability syndrome|prelds

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 38; MRD38

X-LINKED INTELLECTUAL DISABILITY DUE TO GRIA3 MUTATIONS Is also known as mental retardation, x-linked, syndromic 29|mental retardation, x-linked 94|mrx94|mrxs29

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about X-LINKED INTELLECTUAL DISABILITY DUE TO GRIA3 MUTATIONS

Other less relevant matches:

Microcephalic primordial dwarfism, Alazami type is a rare, genetic developmental defect during embryogenesis syndrome characterized by severe intellectual disability, distinct dysmorphic facial features (i.e. triangular face with prominent forehead, narrow palpebral fissures, deep-set eyes, low-set ears, broad nose, malar hypoplasia, short philtrum, macrostomia, widely spaced teeth) and pre and postnatal proportionate short stature, ranging from primordial dwarfism (height below -3.5 SD) to a milder phenotype with less severe growth restriction (height below -2.5 SD). Other reported features include skeletal findings (e.g. scoliosis), microcephaly, involuntary hand movements, hypersensitivity to stimuli and behavioral problems, such as anxiety.

MICROCEPHALIC PRIMORDIAL DWARFISM, ALAZAMI TYPE Is also known as facial dysmorphism, intellectual disability, and primordial dwarfism|alazami syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Microcephaly
  • Scoliosis


SOURCES: ORPHANET OMIM MENDELIAN

More info about MICROCEPHALIC PRIMORDIAL DWARFISM, ALAZAMI TYPE

Related symptoms:

  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Microcephaly
  • Ataxia


SOURCES: ORPHANET OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 7; MRD7

Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome is a rare, genetic, syndromic intellectual disability disorder characterized by global development delay with very limited or absent speech and language, severe intellectual disability, long slender fingers, ocular abnormalities (typically strabismus or hypermetropia), and facial dysmorphism that includes a grimacing facial expression, a tubular-shaped nose with a prominent, broad base and tip, and other variable features, such as broad forehead, hypertelorism, deep-set eyes, narrow palpebral fissures, short philtrum and/or broad mouth.

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about SEVERE INTELLECTUAL DISABILITY-POOR LANGUAGE-STRABISMUS-GRIMACING FACE-LONG FINGERS SYNDROME

MRD13 is an autosomal dominant form of mental retardation associated with variable neuronal migration defects resulting in cortical malformations. More variable features include early-onset seizures and mild dysmorphic features. Some patients may also show signs of peripheral neuropathy, such as abnormal gait, hyporeflexia, and foot deformities (summary by Willemsen et al., 2012 and Poirier et al., 2013).

MENTAL RETARDATION, AUTOSOMAL DOMINANT 13; MRD13 Is also known as mental retardation, autosomal dominant 13, with neuronal migration defects

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 13; MRD13

Joubert syndrome-14 is an autosomal recessive developmental disorder characterized by severe mental retardation, hypoplasia of the cerebellar vermis and molar tooth sign (MTS) on brain imaging, hypotonia, abnormal breathing pattern in infancy, and dysmorphic facial features. Additional findings can include renal cysts, abnormal eye movements, and postaxial polydactyly (summary by Boycott et al., 2007 and Huang et al., 2011).For a phenotypic description and a discussion of genetic heterogeneity of Joubert syndrome, see {213300}.

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Ataxia
  • Growth delay


SOURCES: OMIM MENDELIAN

More info about JOUBERT SYNDROME 14; JBTS14

X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizures (XDIBS), or Pettigrew syndrome is a central nervous system malformation characterized by severe intellectual deficit, early hypotonia with progression to spasticity and contractures, choreoathetosis, seizures, dysmorphic face (long face with prominent forehead), and brain imaging abnormalities such as Dandy-Walker malformation (see this term), and iron deposition.

X-LINKED INTELLECTUAL DISABILITY-DANDY-WALKER MALFORMATION-BASAL GANGLIA DISEASE-SEIZURES SYNDROME Is also known as mental retardation, x-linked, with dandy-walker malformation, basal ganglia disease, and seizures|mrxs21|mrx59|mental retardation, x-linked 59|mrxs5|mental retardation, x-linked, syndromic, fried type|mrxsf|mental retardation, x-linked, syndromic 21|menta

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about X-LINKED INTELLECTUAL DISABILITY-DANDY-WALKER MALFORMATION-BASAL GANGLIA DISEASE-SEIZURES SYNDROME

Chromosome 1q43-q44 deletion syndrome is characterized by moderate to severe mental retardation, limited or no speech, and variable but characteristic facial features, including round face, prominent forehead, flat nasal bridge, hypertelorism, epicanthal folds, and low-set ears. Other features may include hypotonia, poor growth, microcephaly, agenesis of the corpus callosum, and seizures. The phenotype is variable, and not all features are observed in all patients, which may be explained in some cases by incomplete penetrance or variable expressivity (summary by Ballif et al., 2012).Patients with autosomal dominant mental retardation-22 have a phenotype similar to that in patients with chromosome 1q43-q44 deletion syndrome (de Munnik et al., 2014).

Related symptoms:

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


SOURCES: MESH OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 22; MRD22

Top 5 symptoms//phenotypes associated to Intellectual disability, severe and Deeply set eye

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

Other less frequent symptoms

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

Common Symptoms - More than 50% cases

Abnormal facial shape

Uncommon Symptoms - Between 30% and 50% cases

Short stature Hypertelorism Short philtrum Wide mouth Downslanted palpebral fissures Depressed nasal bridge Low-set ears Prominent forehead Aggressive behavior Autism Failure to thrive Growth delay Delayed speech and language development Motor delay Downturned corners of mouth Strabismus Epicanthus Absent speech Autistic behavior

Rare Symptoms - Less than 30% cases

Poor speech Wide nose Thick vermilion border Highly arched eyebrow Widely spaced teeth Ataxia Micrognathia Gait disturbance Hyperactivity Cerebral cortical atrophy Ventriculomegaly Abnormality of the pinna Small for gestational age Protruding ear Dandy-Walker malformation High forehead Thin upper lip vermilion Spasticity Cryptorchidism Hydrocephalus Hypoplasia of the corpus callosum Muscular hypotonia Cerebellar hypoplasia Feeding difficulties Long face Macrocephaly Neonatal hypotonia Tented upper lip vermilion Brachycephaly Hyporeflexia Everted lower lip vermilion Wide nasal bridge Scoliosis Malar flattening Pointed chin Meningocele Multiple renal cysts Occipital encephalocele Partial agenesis of the corpus callosum Breathing dysregulation Molar tooth sign on MRI Long nose Encephalocele Open mouth Cerebellar vermis hypoplasia Morning glory anomaly Agenesis of corpus callosum Prominent metopic ridge Renal cyst Postaxial polydactyly Abnormality of eye movement Prominent nasal bridge Coloboma Irritability Abnormality of the eye Bruxism Polydactyly Posteriorly rotated ears Pneumonia Microphthalmia Prominent nasal tip Hypertension Sensorineural hearing impairment Inguinal hernia Microretrognathia Basal ganglia calcification Long philtrum Short nose Dystonia Muscular hypotonia of the trunk Neurological speech impairment Smooth philtrum Nystagmus Cleft palate Thin vermilion border Bifid uvula Round face Abnormality of the basal ganglia Wide intermamillary distance High-frequency hearing impairment Aplasia/Hypoplasia of the cerebellum Flexion contracture Coarse facial features Hyperreflexia Telecanthus Dementia Gait ataxia Mandibular prognathia Absence seizures Difficulty walking Self-injurious behavior Short palpebral fissure Neurodegeneration Prominent nose Cerebral calcification Choreoathetosis Narrow face Ptosis Long toe Broad palm Febrile seizures Broad-based gait Decreased body weight Intrauterine growth retardation Macrotia Severe global developmental delay Bulbous nose Narrow forehead Anxiety Eczema Hypotelorism Thick lower lip vermilion Failure to thrive in infancy Hallux valgus Thickened helices Triangular face Severe short stature Pain Behavioral abnormality Syndactyly Camptodactyly Narrow philtrum Cerebral atrophy Generalized tonic-clonic seizures Muscle weakness Myoclonus Retrocerebellar cyst Distal muscle weakness Narrow palate Prominent supraorbital ridges Facial hypotonia Slender build Short upper lip Small earlobe Sparse hair Cortical dysplasia Generalized-onset seizure Polymicrogyria Inability to walk Small hand Tetraplegia Focal-onset seizure Waddling gait Spastic tetraplegia Abnormality of the foot Pachygyria Heterotopia Short toe Plagiocephaly Hypoplasia of the brainstem Toe walking Peripheral axonal neuropathy Kyphoscoliosis Blepharophimosis Language impairment Broad forehead Hypermetropia Astigmatism Broad nasal tip Fine hair Narrow palpebral fissure Long fingers Talipes equinovarus Long palpebral fissure Self-mutilation Fair hair Tics Inappropriate laughter Peripheral neuropathy Dysphagia Long upper lip


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