Intellectual disability, and Feeding difficulties in infancy

Diseases related with Intellectual disability and Feeding difficulties in infancy

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

Top matches:

Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome is a rare, genetic, syndromic intellectual disability disorder characterized by borderline to severe intellectual disability, global development delay, feeding difficulties, microcephaly, short stature and mild facial dysmorphism, including thick eyebrows, long eyelashes, prominent incisors and/or thin upper lip. Other associated features may include hypermetropia with or without esotropia, behavioral anomallies (e.g. autistic behavior, sleeping disturbances), urogenital abnormalities (e.g. crytorchidism, inguinal hernia), single palmar crease, fifth-finger clinodactyly and cardiac defects (e.g. ASD, PDA).

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about INTELLECTUAL DISABILITY-FEEDING DIFFICULTIES-DEVELOPMENTAL DELAY-MICROCEPHALY SYNDROME

Combined oxidative phosphorylation deficiency-23 is an autosomal recessive disorder characterized by early childhood onset of hypertrophic cardiomyopathy and/or neurologic symptoms, including hypotonia and delayed psychomotor development. Laboratory investigations are consistent with a defect in mitochondrial function resulting in lactic acidosis, impaired activities of respiratory complexes I and IV, and defective translation of mitochondrial proteins. Brain imaging shows abnormal lesions in the basal ganglia, thalamus, and brainstem. The severity of the disorder is variable, ranging from death in early infancy to survival into the second decade (summary by Kopajtich et al., 2014).For a discussion of genetic heterogeneity of combined oxidative phosphorylation deficiency, see COXPD1 (OMIM ).

COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 23 Is also known as coxpd23

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 23

Nephrogenic diabetes insipidus is caused by the inability of the renal collecting ducts to absorb water in response to antidiuretic hormone (ADH), also known as arginine vasopressin (AVP ). Approximately 90% of patients are males with the X-linked recessive form, type I (OMIM ), which is caused by mutation in the gene encoding the vasopressin V2 receptor (AVPR2 ). The remaining 10% of patients have the autosomal form, type II, caused by mutation in the AQP2 gene (Morello and Bichet, 2001).Neurogenic, or central, diabetes insipidus (CDI ) is caused by mutation in the gene encoding arginine vasopressin, located on 20p13.

DIABETES INSIPIDUS, NEPHROGENIC, AUTOSOMAL Is also known as diabetes insipidus, nephrogenic, type ii

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Failure to thrive
  • Feeding difficulties


SOURCES: OMIM MENDELIAN

More info about DIABETES INSIPIDUS, NEPHROGENIC, AUTOSOMAL

Other less relevant matches:

Nephrogenic diabetes insipidus (NDI) is characterized by polyuria with polydipsia, recurrent bouts of fever, constipation, and acute hypernatremic dehydration after birth that may cause neurological sequelae. Polyuria may exceed 10 litres in children.

NEPHROGENIC DIABETES INSIPIDUS Is also known as ndi|diabetes insipidus, nephrogenic, type i

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Growth delay


SOURCES: OMIM ORPHANET MENDELIAN

More info about NEPHROGENIC DIABETES INSIPIDUS

Developmental delay with autism spectrum disorder and gait instability is a rare, genetic, neurological disorder characterized by infant hypotonia and feeding difficulties, global development delay, mild to moderated intellectual disability, delayed independent ambulation, broad-based gait with arms upheld and flexed at the elbow with brisk walking or running, and limited language skills. Behavior patterns are highly variable and range from sociable and affectionate to autistic behavior.

DEVELOPMENTAL DELAY WITH AUTISM SPECTRUM DISORDER AND GAIT INSTABILITY Is also known as developmental delay with asd and gait instability

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about DEVELOPMENTAL DELAY WITH AUTISM SPECTRUM DISORDER AND GAIT INSTABILITY

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

Tetrahydrobiopterin (BH4)-deficient hyperphenylalaninemia (HPA) comprises a genetically heterogeneous group of progressive neurologic disorders caused by autosomal recessive mutations in the genes encoding enzymes involved in the synthesis or regeneration of BH4. BH4 is a cofactor for phenylalanine hydroxylase (PAH ), tyrosine hydroxylase (TH ) and tryptophan hydroxylase (TPH1 ), the latter 2 of which are involved in neurotransmitter synthesis. The BH4-deficient HPAs are characterized phenotypically by hyperphenylalaninemia, depletion of the neurotransmitters dopamine and serotonin, and progressive cognitive and motor deficits (Dudesek et al., 2001).HPABH4A, caused by mutations in the PTS gene, represents the most common cause of BH4-deficient hyperphenylalaninemia (Dudesek et al., 2001). Other forms of BH4-deficient HPA include HPABH4B (OMIM ), caused by mutation in the GCH1 gene (OMIM ), HPABH4C (OMIM ), caused by mutation in the QDPR gene (OMIM ), and HPABH4D (OMIM ), caused by mutation in the PCBD1 gene (OMIM ). Niederwieser et al. (1982) noted that about 1 to 3% of patients with hyperphenylalaninemia have one of these BH4-deficient forms. These disorders are clinically and genetically distinct from classic phenylketonuria (PKU ), caused by mutation in the PAH gene.Two additional disorders associated with BH4 deficiency and neurologic symptoms do not have overt hyperphenylalaninemia as a feature: dopa-responsive dystonia (OMIM ), caused by mutation in the SPR gene (OMIM ), and autosomal dominant dopa-responsive dystonia (DYT5 ), caused by mutation in the GCH1 gene. Patients with these disorders may develop hyperphenylalaninemia when stressed.

HYPERPHENYLALANINEMIA, BH4-DEFICIENT, A; HPABH4A Is also known as hyperphenylalaninemia, tetrahydrobiopterin-deficient, due to pts deficiency|6-pyruvoyl-tetrahydropterin synthase deficiency|pts deficiency

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Ataxia


SOURCES: OMIM MENDELIAN

More info about HYPERPHENYLALANINEMIA, BH4-DEFICIENT, A; HPABH4A

HYPERPHENYLALANINEMIA, BH4-DEFICIENT, B; HPABH4B Is also known as gtp cyclohydrolase i deficiency|hyperphenylalaninemia, tetrahydrobiopterin-deficient, due to gtp cyclohydrolase i deficiency

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about HYPERPHENYLALANINEMIA, BH4-DEFICIENT, B; HPABH4B

Noonan syndrome is a developmental disorder characterized by reduced postnatal growth, dysmorphic facial features, cardiac defects, and variable cognitive defects (summary by Sarkozy et al., 2009).

Related symptoms:

  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Scoliosis
  • Hypertelorism


SOURCES: OMIM MENDELIAN

More info about NOONAN SYNDROME 7; NS7

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

Symptoms // Phenotype % cases
Global developmental delay Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
Feeding difficulties Common - Between 50% and 80% cases
Microcephaly Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Short stature Poor suck Hyperreflexia Constipation Failure to thrive Irritability Rigidity Fever Intellectual disability, progressive Vomiting Dysphagia Tremor Encephalopathy Spasticity Strabismus Muscular hypotonia of the trunk

Rare Symptoms - Less than 30% cases

Babinski sign Narrow forehead Severe muscular hypotonia Impulsivity Drooling Dysarthria Postnatal microcephaly Choreoathetosis Low-set ears Hyperphenylalaninemia Excessive salivation Motor delay Gait disturbance Hypertonia Dystonia Episodic fever Postural instability Parkinsonism Bradykinesia Hypokinesia Hyperactivity Progressive neurologic deterioration Dehydration Growth delay Unexplained fevers Megacystis Cognitive impairment Hypernatremia Nephrogenic diabetes insipidus Diabetes insipidus Polyuria Atrial septal defect Polydipsia Hypertonic dehydration Oculogyric crisis Hypoplasia of the corpus callosum Infantile encephalopathy Scoliosis Delayed speech and language development Limb hypertonia Hyperkinesis Absent speech Transient hyperphenylalaninemia Abnormal facial shape Depressed nasal bridge Abnormality of the skeletal system Short neck Prominent forehead Pectus carinatum Dolichocephaly Excessive daytime somnolence Pulmonic stenosis Webbed neck Hyperpigmentation of the skin Mild short stature Hypertelorism Generalized tonic-clonic seizures Limb dystonia Opisthotonus Involuntary movements Abnormality of movement Abnormality of eye movement Lethargy Abnormality of the eye Obsessive-compulsive behavior Hyperhidrosis Depressivity Behavioral abnormality Fatigue Difficulty walking Ptosis Muscular hypotonia Nasogastric tube feeding in infancy Abnormal CNS myelination Progressive spasticity Broad-based gait Hypotelorism Febrile seizures Torticollis Spastic paraplegia Anxiety Polymicrogyria Abnormality of extrapyramidal motor function Acidosis Hypovolemia Pollakisuria Hydroureter Anorexia Nausea and vomiting Hydronephrosis Polyhydramnios Renal insufficiency Increased serum lactate Lactic acidosis Hypertrophic cardiomyopathy Arrhythmia Nocturia Congestive heart failure Cardiomyopathy Intrauterine growth retardation Visual impairment Coarctation of aorta Thin vermilion border Hypermetropia Autistic behavior Patent ductus arteriosus Abnormality of the dentition Cryptorchidism Cleft palate Enuresis nocturna Hyposthenuria Small for gestational age Myoclonus Abnormality of the nervous system Ataxia Congenital encephalopathy Abnormal muscle tone Central hypoventilation Hypoventilation Poor eye contact Progressive microcephaly Apnea EEG abnormality Gastroesophageal reflux Respiratory failure Intellectual disability, severe Functional abnormality of the bladder Respiratory insufficiency Diminished ability to concentrate Blue irides Self-mutilation Plagiocephaly Sandal gap Narrow palate Unsteady gait Poor speech Aggressive behavior Mandibular prognathia Hypernatremic dehydration Thickened helices


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