Intellectual disability, severe, and Feeding difficulties in infancy

Diseases related with Intellectual disability, severe and Feeding difficulties in infancy

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

Top matches:

Severe neonatal-onset encephalopathy with microcephaly is a rare monogenic disease with epilepsy characterized by neonatal-onset encephalopathy, microcephaly, severe developmental delay or absent development, breathing abnormalities (including central hypoventilation and/or respiratory insufficiency), intractable seizures, abnormal muscle tone and involuntary movements. Early death is usual.

SEVERE NEONATAL-ONSET ENCEPHALOPATHY WITH MICROCEPHALY Is also known as severe congenital encephalopathy due to mecp2 mutation

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about SEVERE NEONATAL-ONSET ENCEPHALOPATHY WITH MICROCEPHALY

Homocystinuria due to methylene tetrahydrofolate reductase (MTHFR) deficiency is a metabolic disorder characterised by neurological manifestations.

HOMOCYSTINURIA DUE TO METHYLENE TETRAHYDROFOLATE REDUCTASE DEFICIENCY Is also known as methylenetetrahydrofolate reductase deficiency|mthfr deficiency|methylene tetrahydrofolate reductase deficiency

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about HOMOCYSTINURIA DUE TO METHYLENE TETRAHYDROFOLATE REDUCTASE DEFICIENCY

Intellectual disability, Birk-Barel type is a rare, genetic, syndromic intellectual disability characterized by congenital central hypotonia, developmental delay, moderate to severe intellectual disability and subtle dysmorphic features which evolve over time (dolichocephaly, myopathic facies, ptosis, short and broad philtrum, tented upper lip vermillion, palatal anomalies, mild micro- and/or retrognathia). Patients present reduced facial movements, lethargy, weak cry, transient neonatal hypoglycemia, severe feeding difficulties and failure to thrive. Dysphagia, particularly of solid food, asthenic body build, joint contractures and scoliosis are additional features.

INTELLECTUAL DISABILITY, BIRK-BAREL TYPE Is also known as intellectual disability-hypotonia-facial dysmorphism syndrome|birk-barel mental retardation dysmorphism syndrome|mental retardation with hypotonia and facial dysmorphism

Related symptoms:

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


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about INTELLECTUAL DISABILITY, BIRK-BAREL TYPE

Other less relevant matches:

Neonatal glycine encephalopathy is a frequent, usually severe form of glycine encephalopathy (GE; see this term) characterized by coma, apnea, hypotonia, seizure and myoclonic jerks in the neonatal period, and subsequent developmental delay.

NEONATAL GLYCINE ENCEPHALOPATHY Is also known as classic glycine encephalopathy|neonatal nkh|nkh|neonatal non-ketotic hyperglycinemia|hyperglycinemia, nonketotic

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about NEONATAL GLYCINE ENCEPHALOPATHY

X-linked creatine transporter deficiency (CRTR-D) is a creatine deficiency syndrome characterized clinically by global developmental delay/ intellectual disability (DD/ID) with prominent speech/language delay, autistic behavior and seizures.

X-LINKED CREATINE TRANSPORTER DEFICIENCY Is also known as slc6a8 deficiency|mental retardation, x-linked, with creatine transport deficiency|creatine deficiency syndrome, x-linked|mental retardation, x-linked, with seizures, short stature, and midface hypoplasia|creatine transporter deficiency|creatine transport

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about X-LINKED CREATINE TRANSPORTER DEFICIENCY

Salt and pepper developmental regression syndrome, also known as Amish infantile epilepsy syndrome, is an autosomal recessive neurocutaneous disorder characterized by infantile onset of refractory and recurrent seizures associated with profoundly delayed psychomotor development and/or developmental regression as well as abnormal movements and visual loss (summary by Fragaki et al., 2013). Affected individuals develop hypo- or hyperpigmented skin macules on the trunk, face, and extremities in early childhood (summary by Boccuto et al., 2014). Not all patients have overt seizures (Lee et al., 2016).

AMISH INFANTILE EPILEPSY SYNDROME Is also known as epilepsy syndrome, infantile-onset symptomatic|infantile-onset symptomatic epilepsy syndrome-developmental stagnation-blindness syndrome|gm3 synthase deficiency|salt and pepper mental retardation syndrome|amish infantile epilepsy syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment


SOURCES: OMIM ORPHANET MENDELIAN

More info about AMISH INFANTILE EPILEPSY SYNDROME

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

High match NARP SYNDROME

Neuropathy, Ataxia, and Retinitis Pigmentosa (NARP) syndrome is a clinically heterogeneous progressive condition characterized by a combination of proximal neurogenic muscle weakness, sensory-motor neuropathy, ataxia, and pigmentary retinopathy.

NARP SYNDROME Is also known as neuropathy-ataxia-retinitis pigmentosa syndrome|neurogenic muscle weakness-ataxia-retinitis pigmentosa syndrome|narp syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about NARP SYNDROME

Myotonic dystrophy is an autosomal dominant disorder characterized mainly by myotonia, muscular dystrophy, cataracts, hypogonadism, frontal balding, and ECG changes. The genetic defect in DM1 results from an amplified trinucleotide repeat in the 3-prime untranslated region of a protein kinase gene. Disease severity varies with the number of repeats: normal individuals have 5 to 37 repeats, mildly affected persons have 50 to 150 repeats, patients with classic DM have 100 to 1,000 repeats, and those with congenital onset can have more than 2,000 repeats. The disorder shows genetic anticipation, with expansion of the repeat number dependent on the sex of the transmitting parent. Alleles of 40 to 80 repeats are usually expanded when transmitted by males, whereas only alleles longer than 80 repeats tend to expand in maternal transmissions. Repeat contraction events occur 4.2 to 6.4% of the time (Musova et al., 2009). Genetic Heterogeneity of Myotonic DystrophySee also myotonic dystrophy-2 (DM2 ), which is caused by mutation in the ZNF9 gene (OMIM ) on chromosome 3q21.

MYOTONIC DYSTROPHY 1; DM1 Is also known as dystrophia myotonica 1|dystrophia myotonica|steinert disease|dm

Related symptoms:

  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Muscle weakness
  • Muscular hypotonia


SOURCES: OMIM MENDELIAN

More info about MYOTONIC DYSTROPHY 1; DM1

High match PEHO SYNDROME

PEHO (Progressive encephalopathy with Edema, Hypsarrhythmia and Optic atrophy) syndrome is a rare neurodegenerative disorder belonging to the group of infantile progressive encephalopathies.

PEHO SYNDROME Is also known as progressive encephalopathy-optic atrophy syndrome|progressive encephalopathy with edema, hypsarrhythmia and optic atrophy|progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy|infantile cerebellooptic atrophy

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about PEHO SYNDROME

Top 5 symptoms//phenotypes associated to Intellectual disability, severe and Feeding difficulties in infancy

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

Other less frequent symptoms

Patients with Intellectual disability, severe and Feeding difficulties in infancy. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases

Feeding difficulties

Uncommon Symptoms - Between 30% and 50% cases

Encephalopathy Ataxia Muscular hypotonia Cerebral cortical atrophy Vomiting Irritability Hypoplasia of the corpus callosum Absent speech Muscle weakness Hyperactivity Flexion contracture Apnea Dysphagia Visual loss Neonatal hypotonia Optic atrophy Failure to thrive Myoclonus Spasticity Hyperreflexia Skeletal muscle atrophy Developmental regression Pain Blindness Hypsarrhythmia Poor suck Ventriculomegaly Motor delay Infantile spasms Attention deficit hyperactivity disorder Choreoathetosis Intellectual disability, profound Chorea Abnormal facial shape Severe global developmental delay Delayed speech and language development Midface retrusion Ophthalmoplegia Intellectual disability, progressive Cerebral atrophy Intellectual disability, mild Behavioral abnormality Dystonia Peripheral neuropathy Open mouth Mandibular prognathia Nystagmus

Rare Symptoms - Less than 30% cases

Tented upper lip vermilion Autism Gingival overgrowth Hydrocephalus Narrow face Edema Stereotypy Long face Dementia Developmental stagnation External ophthalmoplegia Cachexia Oral-pharyngeal dysphagia Heart block Intellectual disability, moderate Acidosis Joint hyperflexibility Aggressive behavior Hearing impairment Cognitive impairment Autistic behavior Visual impairment Generalized-onset seizure Sensory neuropathy Malar flattening Pallor Brain atrophy Short stature Ptosis Hypertonia Arrhythmia Thick eyebrow Gait disturbance Progressive microcephaly Scoliosis Atrophy/Degeneration affecting the brainstem Neuronal loss in central nervous system Muscular hypotonia of the trunk Involuntary movements Polymicrogyria Postnatal microcephaly Progressive neurologic deterioration Hyperkinesis Abnormality of eye movement Narrow forehead Epileptic encephalopathy Infantile muscular hypotonia Coma Paresthesia Lethargy Stroke Abnormality of the nervous system Proximal muscle weakness EEG abnormality Unsteady gait Cerebellar atrophy Growth delay Constipation Myopathy Gait ataxia Poor speech Retrognathia Respiratory failure Babinski sign Macrotia Gastroesophageal reflux Strabismus Abnormality of the eye Arthrogryposis multiplex congenita Respiratory distress Myoclonic spasms Retinal pigment epithelial mottling Abnormality of the nose Progressive gait ataxia Breathing dysregulation Slender finger Dyslexia Asymmetric septal hypertrophy Hyperventilation Mitochondrial myopathy Progressive external ophthalmoplegia Headache Constriction of peripheral visual field Happy demeanor Lactic acidosis Rod-cone dystrophy Necrotizing encephalopathy Dyspnea Anxiety Hypertrophic cardiomyopathy Paralysis Retinopathy Cardiomyopathy Tremor Nyctalopia Dysarthria Inappropriate laughter Loss of ability to walk in first decade Neurodegeneration Muscle cramps Generalized muscle weakness Overgrowth Pigmentary retinopathy Photosensitive tonic-clonic seizures Optic disc pallor Sensory axonal neuropathy Conspicuously happy disposition Retinal arteriolar tortuosity Cholelithiasis Abnormal basal ganglia MRI signal intensity Short nose Limitation of joint mobility Full cheeks Tapered finger Abnormality of movement Recurrent respiratory infections Cerebellar hypoplasia Anteverted nares Severe muscular hypotonia Epicanthus Ring fibers Percussion myotonia Obsessive-compulsive trait Narcolepsy Excessive daytime sleepiness Pachygyria Abnormal palate morphology First degree atrioventricular block Porencephalic cyst Peripheral dysmyelination Edema of the dorsum of feet Edema of the dorsum of hands Abnormality of upper lip Peripheral edema Infantile encephalopathy Periventricular leukomalacia Biparietal narrowing Edema of the lower limbs Progressive encephalopathy External ear malformation Epileptic spasms Palpebral edema Drowsiness Frontal balding Testicular atrophy Abnormal mitochondria in muscle tissue Mental deterioration Mitral valve prolapse Premature birth Tachycardia Lower limb muscle weakness Talipes Muscular dystrophy Myalgia Atrial fibrillation Polyhydramnios Hypogonadism Dilatation Cataract Corticospinal tract atrophy Abnormal visual field test Decreased fetal movement Progressive muscle weakness Atrial flutter Alzheimer disease Nonimmune hydrops fetalis Facial diplegia Abnormal EKG Neurofibrillary tangles Centrally nucleated skeletal muscle fibers Thin ribs Myotonia Hydrops fetalis Dysphasia Atrioventricular block Ventricular tachycardia Spontaneous abortion Cardiac arrest Insulin resistance Long nose Hepatomegaly Bowel incontinence Impulsivity Neonatal hypoglycemia Broad eyebrow Tented philtrum Submucous cleft soft palate Hypertension Thrombocytopenia Hyporeflexia Agenesis of corpus callosum Neutropenia Aciduria Limb ataxia Leukopenia Spastic diplegia Dysphonia Weak cry Restlessness Ketoacidosis Hyperglycinemia Vertical supranuclear gaze palsy Hyperglycinuria Posterior fossa cyst Delirium Nonketotic hyperglycinemia Episodic ketoacidosis Recurrent singultus Pill-rolling tremor Spinal muscular atrophy Sacral dimple Pes cavus Incoordination Respiratory insufficiency Rigidity Poor eye contact Hypoventilation Central hypoventilation Abnormal muscle tone Congenital encephalopathy Limb muscle weakness Waddling gait Myocardial infarction Hallucinations Paraparesis Coronary artery atherosclerosis Broad nasal tip Thromboembolism Delusions Homocystinuria Hyperhomocystinemia Micrognathia Cleft palate High palate Depressivity Hypoglycemia Short philtrum Dolichocephaly High, narrow palate Highly arched eyebrow Abnormality of metabolism/homeostasis Broad forehead Decreased muscle mass Deeply set eye Status epilepticus Tetraparesis Cerebral visual impairment Loss of consciousness Global brain atrophy Hypermelanotic macule Lower limb hyperreflexia Abnormal retinal morphology Multifocal epileptiform discharges Hyporeflexia of upper limbs Developmental stagnation at onset of seizures Pectus excavatum Narrow chest Macroglossia Abnormality of the foot Sleep disturbance Urinary incontinence Decreased body weight Clonus Truncal ataxia Aplasia/Hypoplasia of the corpus callosum Drooling Mutism Adducted thumb Abnormality of the thorax Aplasia/Hypoplasia of the cerebellum Increased serum lactate Inability to walk Hypermetropia Self-mutilation Joint hypermobility Parkinsonism Delayed myelination Clumsiness Aganglionic megacolon Tall stature Exotropia Redundant skin Language impairment Mask-like facies Athetosis Myopathic facies Chronic constipation Abnormality of skin pigmentation Speech apraxia Ileus Impaired social interactions Urethral stenosis Duodenal ulcer Abnormality of creatine metabolism Poor hand-eye coordination Underfolded superior helices Hernia Coarse facial features Hepatosplenomegaly Generalized tonic-clonic seizures Retinal degeneration Undetectable visual evoked potentials


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