Delayed speech and language development, and Stroke
Diseases related with Delayed speech and language development and Stroke
In the following list you will find some of the most common rare diseases related to Delayed speech and language development and Stroke that can help you solving undiagnosed cases.
Top matches:
Medium match ABETAL34V AMYLOIDOSIS
Hereditary cerebral hemorrhage with amyloidosis (HCHWA), Piedmont type is a form of HCHWA (see this term) characterized by an age of onset between 50-70 years of age, recurrent lobar intracerebral hemorrhages and cognitive decline.
ABETAL34V AMYLOIDOSIS Is also known as abeta amyloidosis, piedmont type; abetal34v-related amyloidosis; hchwa, piedmont type; hereditary cerebral hemorrhage with amyloidosis, piedmont type
Related symptoms:
- Intellectual disability
- Global developmental delay
- Coma
- Behavioral abnormality
- Dementia
SOURCES: ORPHANET
More info about ABETAL34V AMYLOIDOSISMedium match DYSTONIA 16; DYT16
Dystonia 16 (DYT16) is a very rare and newly discovered movement disorder which is characterized by early-onset progressive limb dystonia, laryngeal and oromandibular dystonia, and parkinsonism.
DYSTONIA 16; DYT16 Is also known as ;dyt16; early-onset dystonia parkinsonism
Related symptoms:
- Autosomal recessive inheritance
- Global developmental delay
- Motor delay
- Cognitive impairment
- Delayed speech and language development
SOURCES: MESH GARD MONDO DOID SCTID OMIM UMLS ORPHANET
More info about DYSTONIA 16; DYT16Medium match MIGRAINE, FAMILIAL HEMIPLEGIC, 2; FHM2
MIGRAINE, FAMILIAL HEMIPLEGIC, 2; FHM2 Is also known as mhp2
Related symptoms:
- Autosomal dominant inheritance
- Intellectual disability
- Seizures
- Global developmental delay
- Pica
More info about MIGRAINE, FAMILIAL HEMIPLEGIC, 2; FHM2
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Other less relevant matches:
Medium match LEIGH SYNDROME, FRENCH CANADIAN TYPE; LSFC
The French Canadian type of Leigh syndrome is an autosomal recessive severe neurologic disorder with onset in infancy. Features include delayed psychomotor development, mental retardation, mild dysmorphic facial features, hypotonia, ataxia, and the development of lesions in the brainstem and basal ganglia. Affected individuals tend to have episodic metabolic and/or neurologic crises in early childhood, which often lead to early death (summary by Debray et al., 2011).For a phenotypic description and a discussion of genetic heterogeneity of Leigh syndrome, see {256000}.
LEIGH SYNDROME, FRENCH CANADIAN TYPE; LSFC Is also known as cytochrome c oxidase deficiency, french canadian type, cox deficiency, french canadian type, cox deficiency, saguenay-lac-saint-jean type, leigh syndrome, saguenay-lac-saint-jean type;cox deficiency, french-canadian type; cytochrome c oxidase deficiency, french-canadian type; cytochrome oxidase deficiency, saguenay-lac-saint-jean type; leigh syndrome, french-canadian type; leigh syndrome, saguenay-lac-saint-jean type; slsj-cox deficiency
Related symptoms:
- Autosomal recessive inheritance
- Seizures
- Global developmental delay
- Generalized hypotonia
- Hypertelorism
SOURCES: ORPHANET UMLS MONDO OMIM SCTID MESH GARD
More info about LEIGH SYNDROME, FRENCH CANADIAN TYPE; LSFCMedium match MYOTONIC DYSTROPHY 1; DM1
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).
MYOTONIC DYSTROPHY 1; DM1 Is also known as dystrophia myotonica 1, dystrophia myotonica;dm, steinert disease;dm1; md1; myotonic dystrophy type 1; steinert disease
Related symptoms:
- Autosomal dominant inheritance
- Intellectual disability
- Seizures
- Generalized hypotonia
- Pica
SOURCES: GARD UMLS OMIM DOID NCIT ORPHANET MONDO
More info about MYOTONIC DYSTROPHY 1; DM1Medium match TRICHORHINOPHALANGEAL SYNDROME, TYPE II; TRPS2
Langer-Giedon syndrome, also known as trichorhinophalangeal syndrome type 2, is a very rare, genetic, multiple congenital anomaly disorder characterized by bone abnormalities, distinctive facial features, multiple exostoses, and intellectual disability.
TRICHORHINOPHALANGEAL SYNDROME, TYPE II; TRPS2 Is also known as langer-giedion syndrome;lgs, chromosome 8q24.1 deletion syndrome;deletion 8q24.1; langer-giedion syndrome; monosomy 8q24.1
Related symptoms:
- Autosomal dominant inheritance
- Intellectual disability
- Seizures
- Short stature
- Generalized hypotonia
SOURCES: ORPHANET MONDO UMLS OMIM GARD MESH DOID NCIT SCTID
More info about TRICHORHINOPHALANGEAL SYNDROME, TYPE II; TRPS2Medium match MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2; MCAHS2
Multiple congenital anomalies-hypotonia-seizures syndrome-2 is an X-linked recessive neurodevelopmental disorder characterized by dysmorphic features, neonatal hypotonia, myoclonic seizures, and variable congenital anomalies involving the central nervous, cardiac, and urinary systems. Some affected individuals die in infancy (summary by Johnston et al., 2012). The phenotype shows clinical variability with regard to severity and extraneurologic features. However, most patients present in infancy with early-onset epileptic encephalopathy associated with developmental arrest and subsequent severe neurologic disability (summary by Belet et al., 2014, Kato et al., 2014). The disorder is caused by a defect in glycosylphosphatidylinositol (GPI) biosynthesis.For a discussion of genetic heterogeneity of MCAHS, see MCAHS1 (OMIM ); for a discussion of genetic heterogeneity of EIEE, see {308350}; and for a discussion of genetic heterogeneity of GPI biosynthesis defects, see GPIBD1 (OMIM ).
MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2; MCAHS2 Is also known as epileptic encephalopathy, early infantile, 20;eiee20, glycosylphosphatidylinositol biosynthesis defect 4;gpibd4;mcahs type 2
Related symptoms:
- Intellectual disability
- Seizures
- Global developmental delay
- Generalized hypotonia
- Hearing impairment
SOURCES: DOID UMLS GARD OMIM ORPHANET MONDO
More info about MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2; MCAHS2Low match PRADER-WILLI SYNDROME; PWS
Prader-Willi syndrome is characterized by diminished fetal activity, obesity, muscular hypotonia, mental retardation, short stature, hypogonadotropic hypogonadism, and small hands and feet. It can be considered to be an autosomal dominant disorder and is caused by deletion or disruption of a gene or several genes on the proximal long arm of the paternal chromosome 15 or maternal uniparental disomy 15, because the gene(s) on the maternal chromosome(s) 15 are virtually inactive through imprinting. Horsthemke and Wagstaff (2008) provided a detailed review of the mechanisms of imprinting of the Prader-Willi/Angelman syndrome (OMIM ) region.See also the chromosome 15q11-q13 duplication syndrome (OMIM ), which shows overlapping clinical features.
PRADER-WILLI SYNDROME; PWS Is also known as prader-labhart-willi syndrome
Related symptoms:
- Intellectual disability
- Seizures
- Global developmental delay
- Short stature
- Generalized hypotonia
SOURCES: OMIM
More info about PRADER-WILLI SYNDROME; PWSLow match CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IId; CDG2D
Congenital disorders of glycosylation (CDG) are a group of hereditary multisystem disorders that are commonly associated with severe psychomotor and mental retardation. The characteristic biochemical abnormality of CDGs is the hypoglycosylation of glycoproteins, which is routinely determined by isoelectric focusing (IEF) of serum transferrin. Type I CDG comprises those disorders in which there is a defect in the assembly of lipid-linked oligosaccharides or their transfer onto nascent glycoproteins, whereas type II CDG comprises defects of trimming, elongation, and processing of protein-bound glycans (summary by Hansske et al., 2002).For a general discussion of CDGs, see CDG1A (OMIM ).
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IId; CDG2D Is also known as cdg iid;cdgiid;beta-1,4-galactosyltransferase deficiency; cdg syndrome type iid; cdg-iid; cdg2d; carbohydrate deficient glycoprotein syndrome type iid; congenital disorder of glycosylation type 2d; congenital disorder of glycosylation type iid
Related symptoms:
- Autosomal recessive inheritance
- Intellectual disability
- Global developmental delay
- Generalized hypotonia
- Motor delay
SOURCES: SCTID MESH MONDO OMIM GARD UMLS ORPHANET
More info about CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IId; CDG2DLow match AUTOIMMUNE HEMOLYTIC ANEMIA-AUTOIMMUNE THROMBOCYTOPENIA-PRIMARY IMMUNODEFICIENCY SYNDROME
AUTOIMMUNE HEMOLYTIC ANEMIA-AUTOIMMUNE THROMBOCYTOPENIA-PRIMARY IMMUNODEFICIENCY SYNDROME Is also known as evans syndrome associated with primary immunodeficiency; tppii deficiency; tppii-related immunodeficiency, autoimmunity, and neurodevelopmental delay with impaired glycolysis and lysosomal expansion disease; triangle disease; tripeptidyl-peptidase ii deficiency
Related symptoms:
- Splenomegaly
- Respiratory tract infection
- Autoimmunity
- Lymphadenopathy
- Stroke
SOURCES: ORPHANET
More info about AUTOIMMUNE HEMOLYTIC ANEMIA-AUTOIMMUNE THROMBOCYTOPENIA-PRIMARY IMMUNODEFICIENCY SYNDROMETop 5 symptoms//phenotypes associated to Delayed speech and language development and Stroke
| Symptoms // Phenotype | % cases |
|---|---|
| Intellectual disability | Common - Between 50% and 80% 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 |
| Motor delay | Uncommon - Between 30% and 50% cases |
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Other less frequent symptoms
Patients with Delayed speech and language development and Stroke. may also develop some of the following symptoms:
Uncommon Symptoms - Between 30% and 50% cases
Muscular hypotonia Abnormal facial shape Myopathy Cognitive impairment Pica Coma Syndactyly Nevus Polyhydramnios Strabismus Edema Milia Hearing impairment Developmental regression Autosomal dominant inheritance Behavioral abnormality Autosomal recessive inheritance Pain Tremor Dysphagia
Rare Symptoms - Less than 30% cases
Hemolytic anemia Poor suck Dilatation Cerebral atrophy Depressed nasal bridge Arrhythmia Abnormality of cardiovascular system morphology Hydrocephalus Obesity Narrow mouth Cryptorchidism Hypoglycemia Gliosis Hypogonadism Prominent forehead Absent speech Cerebellar hypoplasia Micropenis Encephalopathy Respiratory distress Malar flattening Anteverted nares Wide nasal bridge Macrocephaly Upslanted palpebral fissure Short nose Failure to thrive Cerebral cortical atrophy Neonatal hypotonia Respiratory failure Ventriculomegaly Redundant skin Deep philtrum Downturned corners of mouth Hip dysplasia Growth hormone deficiency Vesicoureteral reflux Genu valgum Delayed puberty Thin upper lip vermilion Central hypotonia Abnormality of the dentition Long philtrum Cleft palate Sepsis Growth delay Scoliosis Microcephaly Short stature Triangular mouth Apnea Micrognathia Respiratory tract infection Insulin resistance Oxycephaly Decreased fetal movement Spontaneous abortion Talipes Hypertelorism Intellectual disability, severe Fever Vomiting Ataxia Dystonia Dysarthria Nystagmus Hyperreflexia Intention tremor Photophobia Sensory impairment Migraine Intellectual disability, mild Hemiparesis Paresthesia Personality disorder Dementia Epileptic spasms Almond-shaped palpebral fissure Pierre-Robin sequence Poor gross motor coordination Scaling skin Infantile spasms Acromicria Absent septum pellucidum Large for gestational age Cardiorespiratory arrest Broad palm Prominent occiput Overfolded helix Widely spaced teeth Short finger Elevated serum creatine phosphokinase Hypoplastic labia minora Infantile muscular hypotonia Narrow palm Micronodular cirrhosis Epicanthus Neoplasm Abnormality of the pons Birth length greater than 97th percentile Olfactory lobe agenesis Alveolar ridge overgrowth Erysipelas Hemoglobinuria Duplicated collecting system Breech presentation Seborrheic dermatitis High anterior hairline Respiratory arrest Psychotic episodes Disseminated intravascular coagulation Central adrenal insufficiency Elevated alkaline phosphatase Temperature instability Hypopnea Dandy-Walker malformation Overgrowth Multicystic kidney dysplasia Clonus Death in infancy Abnormality of eye movement Lymphopenia Wide nose Cirrhosis Short distal phalanx of finger Renal cyst Ichthyosis Abnormality of the eye Systemic lupus erythematosus Hepatitis Wide mouth Muscular hypotonia of the trunk Coarse facial features Abnormality of the genital system Autoimmune hemolytic anemia Autoimmune thrombocytopenia Retrognathia Myoclonus Posteriorly rotated ears Hepatic failure Webbed neck Inflammatory abnormality of the skin Epileptic encephalopathy Abnormality of the coagulation cascade Abnormality of coagulation Splenomegaly Intrauterine growth retardation Gingival overgrowth Postnatal microcephaly Generalized seizures Autoimmunity Small nail Large fontanelles Delayed myelination Hypsarrhythmia Cortical visual impairment Lymphadenopathy Recurrent otitis media Tall stature Limb undergrowth Microdontia Neuronal loss in central nervous system Generalized myoclonic seizures Feeding difficulties Congestive heart failure Hypertension Bradycardia Scrotal hypoplasia Radial deviation of finger Emotional lability Precocious puberty Narrow palpebral fissure Hyperinsulinemia Nasal speech Bicuspid aortic valve Hypogonadotrophic hypogonadism Aortic valve stenosis Large hands Cyanosis Clumsiness Abnormality of the cardiovascular system Cutaneous photosensitivity Primary amenorrhea Psychosis Narrow forehead Type II diabetes mellitus Hypopigmentation of the skin Albinism Myeloid leukemia Amenorrhea Striae distensae Decreased muscle mass Truncal obesity External genital hypoplasia Inflammation of the large intestine Polyphagia Hypopigmentation of hair Intestinal bleeding Impaired pain sensation Failure to thrive in infancy Glucose intolerance Ocular albinism Hypoventilation Sleep apnea Increased body weight Iris hypopigmentation Hypoplasia of the fovea Overweight Abnormality of lipid metabolism Acrocyanosis Skeletal muscle hypertrophy Oligohydramnios Oligomenorrhea Myopia Osteopenia Pruritus Poor fine motor coordination Dolichocephaly Attention deficit hyperactivity disorder Abnormality of the nervous system Abnormality of the pinna Weight loss Sporadic Autism Hyperactivity Short palm Diabetes mellitus Clinodactyly Osteoporosis Recurrent respiratory infections Hyporeflexia Adrenal insufficiency Kyphosis Talipes equinovarus Tics Carious teeth Polymicrogyria Specific learning disability Cor pulmonale Gastrointestinal hemorrhage Chromosome breakage Febrile seizures Esotropia Narrow nasal bridge Hypothermia Full cheeks Labial hypoplasia Generalized hypopigmentation Frontal upsweep of hair Hypermetropia Anteverted ears Abdominal obesity Clitoral hypoplasia Sleep disturbance Small hand Infertility Leukemia Short foot Tapered finger Arachnodactyly X-linked recessive inheritance Recurrent urinary tract infections Pneumonia Hypertrophic cardiomyopathy Truncal ataxia Low anterior hairline Peripheral demyelination Increased serum lactate Hirsutism Highly arched eyebrow Metabolic acidosis Hepatic steatosis Lactic acidosis Acidosis Leukoencephalopathy Midface retrusion Hypospadias Cardiomyopathy Infantile onset Transient unilateral blurring of vision Scintillating scotoma Migraine without aura Phonophobia Migraine with aura Decreased liver function Tachypnea Episodic ataxia Muscle weakness Muscular dystrophy Hip dislocation Mental deterioration Myalgia Facial palsy Feeding difficulties in infancy Hypertonia Skeletal muscle atrophy Peripheral neuropathy Cataract Hyperglycemia Ptosis Increased hepatocellular lipid droplets Congenital lactic acidosis Breathing dysregulation Microvesicular hepatic steatosis CNS demyelination Increased CSF lactate Small face Anteriorly placed anus Shock Borderline personality disorder Drowsiness Unsteady gait Involuntary movements Craniofacial dystonia Facial grimacing Laryngeal dystonia Morphological abnormality of the pyramidal tract Generalized dystonia Limb dystonia Language impairment Akinesia Postural tremor Dysphonia Limb pain Torticollis Ischemic stroke Bradykinesia Parkinsonism Abnormal pyramidal sign Rigidity Progressive Gait disturbance Abnormality of the cerebral vasculature Cerebral hemorrhage Lower limb pain Retrocollis Loss of consciousness Nausea Restlessness Blurred vision Severe hearing impairment Aphasia Dysphasia Hemiplegia Scotoma Tinnitus Diplopia Apraxia Blindness Confusion Vertigo Abnormal cerebellum morphology Dysmetria Autistic behavior Intellectual disability, moderate Headache Gait ataxia Depressivity Heterogeneous Lower limb muscle weakness Sensory neuropathy Patent ductus arteriosus Joint dislocation Spinal cord compression Cone-shaped epiphyses of the phalanges of the hand Exostoses Increased number of teeth Cone-shaped epiphysis Preaxial polydactyly Recurrent upper respiratory tract infections Abnormal palate morphology Scapular winging Bone pain Fragile nails Bilateral single transverse palmar creases Gynecomastia Exotropia Sparse scalp hair Ectodermal dysplasia Joint hypermobility Thick eyebrow Bulbous nose Joint hyperflexibility Deeply set eye Oligospermia Vaginal atresia Finger syndactyly Redundant skin in infancy Cerebellar atrophy Atrial septal defect Hypoplasia of the corpus callosum Short neck Hepatomegaly High palate Flexion contracture Anemia Spasticity Multiple long-bone exostoses Thick nasal alae Scapular exostoses Rib exostoses Persistent cloaca Aplasia/Hypoplasia of the mandible Mild postnatal growth retardation Hydrometrocolpos Prune belly Absent toe Multiple exostoses Avascular necrosis of the capital femoral epiphysis Sparse hair Low-set, posteriorly rotated ears Tachycardia Cholelithiasis Facial diplegia Neurofibrillary tangles Thin ribs Centrally nucleated skeletal muscle fibers Alzheimer disease Atrioventricular block Myotonia Non-midline cleft lip Mask-like facies Ventricular tachycardia Abnormality of the endocrine system Cardiac arrest Hydrops fetalis Progressive muscle weakness Atrial fibrillation EMG abnormality Intellectual disability, progressive Syncope Mitral valve prolapse Brain atrophy Premature birth Heart block Nonimmune hydrops fetalis Joint stiffness Ring fibers Protruding ear Joint laxity Conductive hearing impairment Polydactyly Macrotia Delayed skeletal maturation Abnormality of the skeletal system Brachydactyly Ventouse delivery First degree atrioventricular block Abnormal hair quantity Obsessive-compulsive trait Excessive daytime sleepiness Hernia of the abdominal wall Narcolepsy Percussion myotonia Frontal balding Testicular atrophy Atrial flutter Abnormality of the upper urinary tract Abnormal EKG Moderate global developmental delay
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