Delayed speech and language development, and Memory impairment

Diseases related with Delayed speech and language development and Memory impairment

In the following list you will find some of the most common rare diseases related to Delayed speech and language development and Memory impairment that can help you solving undiagnosed cases.


Top matches:

Medium match CRIGLER-NAJJAR SYNDROME TYPE 1

Crigler-Najjar syndrome type 1 (CNS1) is the most severe form of CNS (see this term), a hereditary disorder of hepatic bilirubin conjugation, characterized by severe neonatal unconjugated hyperbilirubinemia due to a complete absence of hepatic bilirubin glucuronosyltransferase (BGT).

CRIGLER-NAJJAR SYNDROME TYPE 1 Is also known as bilirubin uridinediphosphate glucuronosyltransferase deficiency type 1; bilirubin-ugt deficiency type 1; hereditary unconjugated hyperbilirubinemia type 1; ugt deficiency type 1

Related symptoms:

  • Intellectual disability
  • Seizures
  • Hearing impairment
  • Delayed speech and language development
  • Tremor


SOURCES: ORPHANET SCTID

More info about CRIGLER-NAJJAR SYNDROME TYPE 1

Medium match HUNTINGTON DISEASE-LIKE 1; HDL1

HUNTINGTON DISEASE-LIKE 1; HDL1 Is also known as huntington-like neurodegenerative disorder 1;hln1, huntington-like neurodegenerative disorder, autosomal dominant, prion disease, early-onset, with prominent psychiatric features;early-onset prion disease with prominent psychiatric features; hdl1

Related symptoms:

  • Autosomal dominant inheritance
  • Seizures
  • Generalized hypotonia
  • Ataxia
  • Nystagmus


SOURCES: UMLS OMIM MONDO ORPHANET DOID MESH

More info about HUNTINGTON DISEASE-LIKE 1; HDL1

Medium match CEROID LIPOFUSCINOSIS, NEURONAL, 7; CLN7

The neuronal ceroid lipofuscinoses (NCL, or CLN) are a clinically and genetically heterogeneous group of neurodegenerative disorders characterized by the intracellular accumulation of autofluorescent lipopigment storage material in different patterns ultrastructurally (summary by Mole et al., 2005).For a general phenotypic description and a discussion of genetic heterogeneity of CLN, see CLN1 (OMIM ).

CEROID LIPOFUSCINOSIS, NEURONAL, 7; CLN7 Is also known as ;

Related symptoms:

  • Autosomal recessive inheritance
  • Seizures
  • Global developmental delay
  • Ataxia
  • Visual impairment


SOURCES: OMIM MONDO MESH GARD DOID UMLS ORPHANET

More info about CEROID LIPOFUSCINOSIS, NEURONAL, 7; CLN7

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Medium match ACERULOPLASMINEMIA

Aceruloplasminemia is an adult-onset disorder of neurodegeneration with brain iron accumulation (NBIA; see this term) characterized by anemia, retinal degeneration, diabetes and various neurological symptoms.

ACERULOPLASMINEMIA Is also known as ;hereditary ceruloplasmin deficiency

Related symptoms:

  • Autosomal recessive inheritance
  • Ataxia
  • Anemia
  • Delayed speech and language development
  • Dysarthria


SOURCES: GARD SCTID UMLS OMIM MONDO DOID ORPHANET

More info about ACERULOPLASMINEMIA

Medium match CEREBELLAR ATAXIA, NONPROGRESSIVE, WITH MENTAL RETARDATION; CANPMR

Nonprogressive cerebellar ataxia with mental retardation is an autosomal dominant neurodevelopmental disorder characterized by mildly delayed psychomotor development, early onset of cerebellar ataxia, and intellectual disability later in childhood and adult life. Other features may include neonatal hypotonia, dysarthria, and dysmetria. Brain imaging in some patients shows cerebellar atrophy. Dysmorphic facial features are variable (summary by Thevenon et al., 2012).

CEREBELLAR ATAXIA, NONPROGRESSIVE, WITH MENTAL RETARDATION; CANPMR Is also known as ;

Related symptoms:

  • Autosomal dominant inheritance
  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia


SOURCES: MONDO DOID UMLS OMIM ORPHANET

More info about CEREBELLAR ATAXIA, NONPROGRESSIVE, WITH MENTAL RETARDATION; CANPMR

Medium match LIPOID PROTEINOSIS OF URBACH AND WIETHE

Lipoid proteinosis of Urbach and Wiethe is a rare autosomal recessive disorder typified by generalized thickening of skin, mucosae, and certain viscera. Classic features include beaded eyelid papules and laryngeal infiltration leading to hoarseness. The disorder is clinically heterogeneous, with affected individuals displaying differing degrees of skin scarring and infiltration, variable signs of hoarseness and respiratory distress, and in some cases neurologic abnormalities such as temporal lobe epilepsy. Histologically, there is widespread deposition of hyaline (glycoprotein) material and disruption/reduplication of basement membrane (summary by Hamada et al., 2002 and Hamada et al., 2003).

LIPOID PROTEINOSIS OF URBACH AND WIETHE Is also known as lipoid proteinosis, urbach-wiethe disease, hyalinosis cutis et mucosae;hyalinosis cutis et mucosae; urbach-wiethe disease

Related symptoms:

  • Autosomal recessive inheritance
  • Intellectual disability
  • Seizures
  • Pica
  • High palate


SOURCES: SCTID MESH GARD DOID OMIM NCIT UMLS ORPHANET MONDO

More info about LIPOID PROTEINOSIS OF URBACH AND WIETHE

Medium match LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER; VWM

Vanishing white matter leukodystrophy is an autosomal recessive neurologic disorder characterized by variable neurologic features, including progressive cerebellar ataxia, spasticity, and cognitive impairment associated with white matter lesions on brain imaging. The age at onset can range from early infancy to adulthood. Rapid neurologic deterioration can occur following minor head trauma. Female mutation carriers may develop ovarian failure, manifest as primary amenorrhea or as secondary amenorrhea lasting more than 6 months, associated with elevated gonadotropin levels at age less than 40 years (summary by Van der Knaap et al., 1998 and Schiffmann et al., 1997).

LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER; VWM Is also known as childhood ataxia with central nervous system hypomyelinization;cach, vanishing white matter leukodystrophy, cree leukoencephalopathy;cle

Related symptoms:

  • Autosomal recessive inheritance
  • Seizures
  • Generalized hypotonia
  • Pica
  • Ataxia


SOURCES: ORPHANET OMIM

More info about LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER; VWM

Medium match 3-METHYLGLUTACONIC ACIDURIA, TYPE I; MGCA1

Type I MGCA is a rare autosomal recessive disorder of leucine catabolism. The metabolic landmark is urinary excretion of 3-methylglutaconic acid (3-MGA) and its derivatives 3-methylglutaric acid (3-MG) and 3-hydroxyisovaleric acid (3-HIVA). Two main presentations have been described: 1 with onset in childhood associated with the nonspecific finding of psychomotor retardation, and the other with onset in adulthood of a progressive neurodegenerative disorder characterized by ataxia, spasticity, and sometimes dementia; these patients develop white matter lesions in the brain. However, some asymptomatic pediatric patients have been identified by newborn screening and show no developmental abnormalities when reexamined later in childhood (summary by Wortmann et al., 2010). Genetic Heterogeneity and Classification of Methylglutaconic AciduriaMethylglutaconic aciduria is a clinically and genetically heterogeneous disorder. Type II MGCA (MGCA2), also known as Barth syndrome (BTHS ), is caused by mutation in the tafazzin gene (TAZ ) on chromosome Xq28. It is characterized by mitochondrial cardiomyopathy, short stature, skeletal myopathy, and recurrent infections; cognitive development is normal. Type III MGCA (MGCA3 ), caused by mutation in the OPA3 gene (OMIM ) on chromosome 19q13, involves optic atrophy, movement disorder, and spastic paraplegia. In types II and III, the elevations of 3-methylglutaconate and 3-methylglutarate in urine are modest. Type IV MGCA (MGCA4 ) represents an unclassified group of patients who have severe psychomotor retardation and cerebellar dysgenesis. Type V MGCA (MGCA5 ), caused by mutation in the DNAJC19 gene (OMIM ) on chromosome 3q26, is characterized by early-onset dilated cardiomyopathy with conduction defects, nonprogressive cerebellar ataxia, testicular dysgenesis, and growth failure in addition to 3-methylglutaconic aciduria (Chitayat et al., 1992; Davey et al., 2006). Type VI MGCA (MGCA6 ), caused by mutation in the SERAC1 gene (OMIM ) on chromosome 6q25, includes deafness, encephalopathy, and a Leigh-like syndrome. Type VII MGCA (MGCA7 ), caused by mutation in the CLPB gene (OMIM ) on chromosome 11q13, includes cataracts, neurologic involvement, and neutropenia. Type VIII MCGA (MGCA8 ) is caused by mutation in the HTRA2 gene (OMIM ) on chromosome 2p13. Type IX MCGA (MGCA9 ) is caused by mutation in the TIMM50 gene (OMIM ) on chromosome 19q13.Eriguchi et al. (2006) noted that type I MGCA is very rare, with only 13 patients reported in the literature as of 2003.Wortmann et al. (2013) proposed a pathomechanism-based classification for 'inborn errors of metabolism with 3-methylglutaconic aciduria as discriminative feature.'

3-METHYLGLUTACONIC ACIDURIA, TYPE I; MGCA1 Is also known as mga, type i;mga1, 3-methylglutaconyl-coa hydratase deficiency, 3-mg-coa-hydratase deficiency;3-methylglutaconyl-coa hydratase deficiency; 3mg-coa hydratase deficiency; mga1

Related symptoms:

  • Autosomal recessive inheritance
  • Seizures
  • Global developmental delay
  • Microcephaly
  • Ataxia


SOURCES: SCTID ORPHANET MONDO MESH OMIM NCIT UMLS GARD DOID

More info about 3-METHYLGLUTACONIC ACIDURIA, TYPE I; MGCA1

Medium match NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 4; NBIA4

Neurodegeneration with brain iron accumulation-4 (NBIA4) is an autosomal recessive neurodegenerative disorder characterized by progressive spastic paraplegia, parkinsonism unresponsive to L-DOPA treatment, and psychiatric or behavioral symptoms. Other neurologic features, including optic atrophy, eye movement abnormalities, dystonia, dysphagia, dysarthria, and motor axonal neuropathy, may occur. Brain MRI shows T2-weighted hypointensities in the globus pallidus and substantia nigra. Onset is usually in the first 2 decades, but later onset has been reported (summary by Dogu et al., 2013). There is phenotypic variation: some patients may not have extrapyramidal signs and may have muscle weakness and atrophy as well as cognitive impairment or developmental delay (Deschauer et al., 2012)For a general phenotypic description and a discussion of genetic heterogeneity of NBIA, see NBIA1 (OMIM ).

NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 4; NBIA4 Is also known as mitochondrial protein-associated neurodegeneration;mpan;mpan; nbia due to c19orf12 mutation; nbia4; neurodegeneration with brain iron accumulation due to c19orf12 mutation; neurodegeneration with brain iron accumulation type 4

Related symptoms:

  • Autosomal recessive inheritance
  • Seizures
  • Global developmental delay
  • Pica
  • Ataxia


SOURCES: OMIM DOID SCTID GARD UMLS ORPHANET MONDO

More info about NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 4; NBIA4

Medium match SIALURIA

Sialuria is an extremely rare metabolic disorder described in fewer than 10 patients to date and characterized by variable signs and symptoms, mostly in infancy, including transient failure to thrive, slightly prolonged neonatal jaundice, equivocal or mild hepatomegaly, microcytic anemia, frequent upper respiratory infections, gastroenteritis, dehydration and flat and coarse facies. Learning difficulties and seizures may occur in childhood.

SIALURIA Is also known as sialuria, french type;sialuria, french type

Related symptoms:

  • Autosomal dominant inheritance
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Scoliosis


SOURCES: OMIM GARD MONDO ORPHANET DOID

More info about SIALURIA

Top 5 symptoms//phenotypes associated to Delayed speech and language development and Memory impairment

Symptoms // Phenotype % cases
Seizures Very Common - Between 80% and 100% cases
Ataxia Common - Between 50% and 80% cases
Autosomal recessive inheritance Common - Between 50% and 80% cases
Dysarthria Common - Between 50% and 80% cases
Tremor Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Delayed speech and language development and Memory impairment. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Dementia Global developmental delay Abnormal pyramidal sign Neurodegeneration Unsteady gait Optic atrophy Aggressive behavior Rigidity Gait ataxia Cerebellar atrophy Mental deterioration Cognitive impairment Generalized hypotonia Spastic paraparesis Cerebral atrophy Visual loss Abnormality of extrapyramidal motor function Delusions Macrocephaly Pica Nevus Dystonia Hyperactivity Gliosis Dysmetria Intellectual disability Encephalopathy Depressivity Hyperreflexia Spasticity Gait disturbance Autosomal dominant inheritance Behavioral abnormality Cerebral cortical atrophy

Rare Symptoms - Less than 30% cases


Abnormal facial shape Confusion Parkinsonism Difficulty walking Distal muscle weakness Emotional lability Generalized myoclonic seizures Clonus Developmental regression Muscle weakness Blindness Abnormality of the cerebral white matter Juvenile onset Long philtrum Intellectual disability, mild Hoarse voice Thick lower lip vermilion Intention tremor Progressive visual loss Urinary incontinence High palate Dysphagia Peripheral neuropathy Oxycephaly Leukoencephalopathy Hepatomegaly Coma Paraparesis Tics Spastic gait Visual impairment Hyperactive deep tendon reflexes Personality changes Involuntary movements Chorea Infantile muscular hypotonia Mania Abnormality of the basal ganglia Bradykinesia Frequent falls EEG abnormality Abnormal saccadic eye movements Nystagmus Metabolic acidosis Gastroesophageal reflux Severe global developmental delay Hypoglycemia Acidosis Infantile onset Hypoplastic nipples Aciduria Sleep apnea Thoracic hypoplasia 2-3 toe syndactyly Tetraplegia Febrile seizures Cholelithiasis Progressive cerebellar ataxia Spastic tetraplegia Athetosis Choreoathetosis Limb ataxia Spastic tetraparesis Motor delay Decreased circulating progesterone Failure to thrive Premature ovarian insufficiency Hemiparesis Leukodystrophy Spinal deformities Long hallux Abnormality of the mitochondrion Prolonged prothrombin time Periorbital fullness Prolonged partial thromboplastin time Upper airway obstruction Dysostosis multiplex Hyperkinesis CNS hypomyelination Protuberant abdomen Microcephaly Encephalitis Axonal degeneration Secondary amenorrhea Progressive encephalopathy Hyperventilation CNS demyelination Cerebral hypomyelination Primary gonadal insufficiency Diffuse leukoencephalopathy Spastic hemiparesis Cessation of head growth Episodic abdominal pain Short attention span Generalized hirsutism 3-Methylglutaconic aciduria Low-set ears Hand tremor Lewy bodies Progressive neurologic deterioration Shuffling gait Hypomimic face Abnormal lower motor neuron morphology Oromandibular dystonia Craniofacial dystonia Abnormal globus pallidus morphology Abnormality of the substantia nigra Scoliosis Hypertelorism Synophrys Generalized dystonia Epicanthus Attention deficit hyperactivity disorder Pain Wide nasal bridge Hepatosplenomegaly Frontal bossing Thin upper lip vermilion Splenomegaly Abdominal pain Elevated hepatic transaminase Abnormality of metabolism/homeostasis Inguinal hernia Coarse facial features Smooth philtrum Motor polyneuropathy Prominent forehead Macroglossia Hyperchloremic acidosis Progressive forgetfulness Skeletal muscle atrophy Respiratory insufficiency Hyporeflexia Elevated serum creatine phosphokinase Babinski sign Pes cavus Progressive Low posterior hairline Spastic paraplegia Distal amyotrophy High, narrow palate Progressive spasticity Peripheral axonal neuropathy Paraplegia Postural instability Abnormal cerebellum morphology Neuronal loss in central nervous system Optic disc pallor Sensorimotor neuropathy Scapular winging Dysdiadochokinesis Impulsivity Amyotrophic lateral sclerosis Bowel incontinence Joint hypermobility Motor axonal neuropathy Abnormality of the skin Primary amenorrhea Personality disorder Myoclonus Retinopathy Neurological speech impairment Sleep disturbance Focal seizures Pigmentary retinopathy Trophic changes related to pain Postural tremor Rapidly progressive Loss of speech Vegetative state Vacuolated lymphocytes Snout reflex Simultanapraxia Anemia Hypertonia Congestive heart failure Diabetes mellitus Hypothyroidism Retinal degeneration Adult onset Cirrhosis Torticollis Polyuria Increased serum ferritin Blepharospasm Cogwheel rigidity Rod-cone dystrophy Basal ganglia gliosis Refractory anemia Clumsiness Hearing impairment Abnormality of the liver Prolonged neonatal jaundice Biliary tract abnormality Oculomotor nerve palsy Neonatal hyperbilirubinemia Unconjugated hyperbilirubinemia Kernicterus Ventriculomegaly Weight loss Anxiety Abnormality of eye movement Mask-like facies Jerky head movements Incoordination Global brain atrophy Slurred speech Hypokinesia Restlessness Slow saccadic eye movements Abnormality of the shoulder Poor fine motor coordination Abnormal posturing Abnormality of higher mental function Abnormality of ocular smooth pursuit Jerky ocular pursuit movements Abnormal head movements Scanning speech Decreased serum ceruloplasmin Peripheral demyelination Microglossia Papule Acrania Cerebral calcification Scarring Abnormal blistering of the skin Subcutaneous nodule Hallucinations Thickened skin Acne Fragile skin Pustule Alopecia of scalp Verrucae Hyperkeratosis Nasal polyposis Abnormal oral mucosa morphology Paranoia Patchy alopecia Abnormality of the gingiva Tongue nodules White papule Bilateral intracranial calcifications Muscular hypotonia Diarrhea Vomiting Lethargy Amenorrhea Carcinoma Absent speech Elevated hepatic iron concentration Long face Decreased serum iron Aceruloplasminemia Strabismus Anteverted nares Edema Cerebellar hypoplasia Constipation Narrow mouth Neonatal hypotonia Deeply set eye Autistic behavior Bulbous nose Wide nose Alopecia Depressed nasal ridge Pointed chin Brisk reflexes Palpebral edema Abnormal cortical gyration Large forehead Nonprogressive cerebellar ataxia Abnormal social behavior Mesiodens Short ear Hypoplastic hippocampus Segmental myoclonic seizures Recurrent respiratory infections Expressive language delay


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