Intellectual disability, severe, and Blindness

Diseases related with Intellectual disability, severe and Blindness

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

Top matches:

Congenital hydrocephalus-1 is characterized by onset in utero of enlarged ventricles due to a disturbance of cerebrospinal fluid accumulation. Affected individuals may have neurologic impairment (summary by Drielsma et al., 2012).Hydrocephalus can also be caused by Arnold-Chiari malformation, atresia of foramen of Magendie, stenosis of aqueduct of Sylvius (OMIM ), toxoplasmosis, hydranencephaly, etc. Furthermore, it develops in infancy or childhood in achondroplasia (OMIM ) and in Hurler disease (OMIM ). Genetic Heterogeneity of Congenital HydrocephalusSee also HYC2 (OMIM ), caused by mutation in the MPDZ gene (OMIM ) on chromosome 9p23, and HYC3 (OMIM ), caused by mutation in the WDR81 gene (OMIM ) on chromosome 17p13.An X-linked form of congenital hydrocephalus (HSAS, HYCX; {307000}) is caused by mutation in the L1CAM gene on (OMIM ) on chromosome Xq28.

HYDROCEPHALUS, CONGENITAL, 1; HYC1 Is also known as hydrocephaly|hydrocephalus, nonsyndromic, autosomal recessive 1, formerly|ventriculomegaly

Related symptoms:

  • Intellectual disability
  • Seizures
  • Neoplasm
  • Macrocephaly
  • Ventriculomegaly


SOURCES: OMIM ORPHANET MENDELIAN

More info about HYDROCEPHALUS, CONGENITAL, 1; HYC1

High match AICA-RIBOSIDURIA

AICA-ribosiduria is an extremely severe inborn error of purine biosynthesis characterized clinically in the single reported case to date by profound intellectual deficit, epilepsy, dysmorphic features of the knees, elbows, and shoulders and congenital blindness.

AICA-RIBOSIDURIA Is also known as aica-ribosuria due to atic deficiency|5-amino-4-imidazole carboxamide ribosiduria|atic deficiency

Related symptoms:

  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Muscular hypotonia
  • Low-set ears


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about AICA-RIBOSIDURIA

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about LISSENCEPHALY 3; LIS3

Other less relevant matches:

Joubert syndrome is an autosomal recessive disorder presenting with psychomotor delay, hypotonia, ataxia, oculomotor apraxia, and neonatal breathing abnormalities. Neuroradiologically, Joubert syndrome is characterized by peculiar malformation of the midbrain-hindbrain junction known as the 'molar tooth sign' (MTS) consisting of cerebellar vermis hypoplasia or aplasia, thick and maloriented superior cerebellar peduncles, and abnormally deep interpeduncular fossa (Romano et al., 2006).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
  • Muscular hypotonia


SOURCES: OMIM MESH MENDELIAN

More info about JOUBERT SYNDROME 6; JBTS6

Combined oxidative phosphorylation defect type 24 is a rare mitochondrial oxidative phosphorylation disorder characterized by variable phenotype, including developmental delay with psychomotor regression, intellectual disability, epilepsy, Leigh syndrome, non-syndromic hearing loss, visual impairment and severe myopathy. Decreased activity of mitochondrial respiratory complexes and lactic acidosis are common findings, and diffuse cerebral atrophy may be associated.

COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 24 Is also known as coxpd24

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 24

High match ALG6-CDG

ALG6-CDG is a form of congenital disorders of N-linked glycosylation characterized by feeding problems, mild-to-moderate neurologic involvement with hypotonia, poor head control, developmental delay, ataxia, strabismus, and seizures, ranging from febrile convulsions to epilepsy. Retinal degeneration has also been reported. A minority of patients show other manifestations, particularly intestinal (such as protein-losing enteropathy) and liver involvement. The disease is caused by loss of function mutations of the gene ALG6 (1p31.3).

ALG6-CDG Is also known as cdg1c|cdg ic|cdgs5, formerly|cdg-ic|carbohydrate-deficient glycoprotein syndrome, type i, with deficient glycosylation of dolichol-linked oligosaccharide, formerly|cdgic|congenital disorder of glycosylation type 1c|carbohydrate-deficient glycoprotein synd

Related symptoms:

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


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about ALG6-CDG

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Spasticity
  • Hypertension


SOURCES: OMIM ORPHANET MENDELIAN

More info about PRIMARY HYPERALDOSTERONISM-SEIZURES-NEUROLOGICAL ABNORMALITIES SYNDROME

NDHMSD is a severe neurodevelopmental disorder characterized by profound developmental delay, severe intellectual disability with absent speech, muscular hypotonia, and a hyperkinetic movement disorder. Additional features may include cortical blindness, generalized cerebral atrophy, and seizures (summary by Lemke et al., 2016).

NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL DOMINANT; NDHMSD Is also known as mrd8, formerly|mental retardation, autosomal dominant 8, formerly

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL DOMINANT; NDHMSD

Early infantile epileptic encephalopathy-2 is an X-linked dominant severe neurologic disorder characterized by onset of seizures in the first months of life and severe global developmental delay resulting in mental retardation and poor motor control. Other features include lack of speech development, subtle dysmorphic facial features, sleep disturbances, gastrointestinal problems, and stereotypic hand movements. There is some phenotypic overlap with Rett syndrome (OMIM ), but EIEE2 is considered to be a distinct entity (summary by Fehr et al., 2013).For a general phenotypic description and a discussion of genetic heterogeneity of EIEE, see EIEE1 (OMIM ).

CDKL5-RELATED EPILEPTIC ENCEPHALOPATHY Is also known as issx2|cdkl5 deficiency disorder|infantile spasm syndrome, x-linked 2

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about CDKL5-RELATED EPILEPTIC ENCEPHALOPATHY

Leber congenital amaurosis (LCA) is a retinal dystrophy defined by blindness and responses to electrophysiological stimulation (Ganzfeld electroretinogram (ERG)) below threshold, associated with severe visual impairment within the first year of life.

LEBER CONGENITAL AMAUROSIS Is also known as crb|amaurosis congenita of leber i|lca|amaurosis congenita of leber|retinal blindness, congenital

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about LEBER CONGENITAL AMAUROSIS

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

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

Other less frequent symptoms

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

Common Symptoms - More than 50% cases

Cerebral visual impairment

Uncommon Symptoms - Between 30% and 50% cases

Microcephaly Intellectual disability, mild Intellectual disability, profound Cerebral atrophy Cerebellar atrophy Ataxia Feeding difficulties Spasticity Tetraparesis Tetraplegia Spastic tetraplegia Cerebellar vermis hypoplasia Generalized-onset seizure Abnormality of the eye Spastic tetraparesis Progressive microcephaly Absent speech Agenesis of corpus callosum Ventriculomegaly Prominent forehead Dilatation

Rare Symptoms - Less than 30% cases

Abnormality of neuronal migration Abnormal pyramidal sign Polymicrogyria Focal-onset seizure Nystagmus Headache Inability to walk Bruxism Infantile spasms Optic atrophy Epileptic encephalopathy Metabolic alkalosis Hypsarrhythmia Tremor Intellectual disability, moderate Hypermetropia Abnormality of eye movement Retinal degeneration Muscular hypotonia of the trunk Focal impaired awareness seizure Scoliosis Deeply set eye Encephalopathy Anteverted nares Constipation Myoclonus Thin upper lip vermilion EEG abnormality Visual impairment Dysarthria Congenital blindness Apraxia High palate Hypoplasia of the corpus callosum Abnormal facial shape Strabismus Motor delay Gastroesophageal reflux Abnormal circulating renin Disproportionate tall stature Global brain atrophy Inappropriate crying Cognitive impairment Respiratory failure Oculogyric crisis Atonic seizures Uterine rupture Depressed nasal bridge Profound global developmental delay Second degree atrioventricular block Hyperreflexia Self-injurious behavior Developmental regression Hyperactivity Gait ataxia Autism Delayed speech and language development Pain Failure to thrive Aggressive behavior EMG: impaired neuromuscular transmission Autistic behavior Focal myoclonic seizures Involuntary movements Primary hyperaldosteronism Abnormality of movement Joint hypermobility Thick eyebrow Dexamethasone-suppresible primary hyperaldosteronism Dyskinesia Chorea Febrile seizures Hypotelorism Status epilepticus Kyphoscoliosis Hyperventilation Broad forehead Cone/cone-rod dystrophy Photophobia Abnormality of the kidney Retinopathy Short philtrum Congenital cataract Talipes Retinal dystrophy Pigmentary retinopathy Narrow forehead Encephalocele Exotropia Abnormality of retinal pigmentation Low anterior hairline Abnormal electroretinogram Mandibular prognathia Hemiplegia/hemiparesis High hypermetropia Keratoconus Hyperactive deep tendon reflexes Severe vision loss Pendular nystagmus Decreased light- and dark-adapted electroretinogram amplitude Abnormality of the optic disc Aplasia/Hypoplasia of the cerebellar vermis Talipes equinovalgus Fundus atrophy Eye poking Hyperthreoninuria Coarse facial features Rod-cone dystrophy Severe global developmental delay Poor eye contact Short palm Thick vermilion border Small hand Short foot Tapered finger Sleep disturbance Generalized myoclonic seizures Delayed myelination Sloping forehead Thick lower lip vermilion Postnatal microcephaly Stereotypy Loss of consciousness Biventricular hypertrophy Visual loss Developmental stagnation Mood swings Infantile encephalopathy Multifocal seizures Thoracolumbar kyphoscoliosis EEG with generalized slow activity Hearing impairment Growth delay Hypertelorism Sensorineural hearing impairment Cataract Hepatomegaly Abnormality of the skeletal system Caesarian section Reduced factor XI activity Decreased circulating renin level Oculomotor apraxia Lissencephaly Hypoplasia of the brainstem Cortical dysplasia Cerebellar dysplasia Hemianopia Congenital microcephaly Esodeviation Agyria Coloboma Stage 5 chronic kidney disease Hepatic fibrosis Severe muscular hypotonia Pachygyria Chorioretinal coloboma Molar tooth sign on MRI Nephronophthisis Abnormal retinal morphology Breathing dysregulation Bile duct proliferation Hyperechogenic kidneys Elongated superior cerebellar peduncle Enlarged fossa interpeduncularis Thickened superior cerebellar peduncle Muscle weakness Ptosis Heterotopia Hemiparesis Myopathy Hydranencephaly Neoplasm Macrocephaly Hydrocephalus Vomiting Mental deterioration Irritability Stroke Spontaneous abortion Arnold-Chiari malformation Communicating hydrocephalus Aqueductal stenosis Dilated fourth ventricle Intraventricular hemorrhage Cerebellar hypoplasia Normal pressure hydrocephalus Low-set ears Frontal bossing Atrial septal defect Abnormality of metabolism/homeostasis Brachycephaly Wide mouth Prominent nasal bridge Abnormality of the skin Clitoral hypertrophy Fused labia minora Hypertonia Skeletal muscle atrophy Elevated serum creatine phosphokinase Alkalosis Ventricular hypertrophy Frontal balding Increased serum testosterone level Reduced antithrombin III activity Elevated serum transaminases during infections Hypertension Ventricular septal defect Abnormality of the nervous system Spastic paraplegia Generalized tonic-clonic seizures Nausea Pulmonary arterial hypertension Epistaxis Protein-losing enteropathy Left ventricular hypertrophy Nephrolithiasis Cerebral palsy Tinnitus Atrioventricular block Hypokalemia Patent foramen ovale Intracranial hemorrhage Polydipsia Athetosis Hyperaldosteronism Adrenal hyperplasia Type I transferrin isoform profile Hyperinsulinemic hypoglycemia Cerebral cortical atrophy Focal segmental glomerulosclerosis Acidosis Proximal muscle weakness Facial palsy Neurodegeneration Metabolic acidosis Gliosis Brain atrophy Increased serum lactate Neuronal loss in central nervous system Ragged-red muscle fibers CNS hypomyelination Glomerulosclerosis Mildly elevated creatine phosphokinase Alopecia of scalp Opisthotonus Edema Recurrent infections Areflexia Hypoglycemia Dysmetria Hepatic failure Intention tremor Broad-based gait Abnormal intestine morphology Polycystic ovaries Partial agenesis of the corpus callosum Hyperthreoninemia


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