Delayed speech and language development, and Schizophrenia
Diseases related with Delayed speech and language development and Schizophrenia
In the following list you will find some of the most common rare diseases related to Delayed speech and language development and Schizophrenia that can help you solving undiagnosed cases.
Top matches:
Autism, the prototypic pervasive developmental disorder (PDD), is usually apparent by 3 years of age. It is characterized by a triad of limited or absent verbal communication, a lack of reciprocal social interaction or responsiveness, and restricted, stereotypic, and ritualized patterns of interests and behavior (Bailey et al., 1996; Risch et al., 1999). 'Autism spectrum disorder,' sometimes referred to as ASD, is a broader phenotype encompassing the less severe disorders Asperger syndrome (see ASPG1; {608638}) and pervasive developmental disorder, not otherwise specified (PDD-NOS). 'Broad autism phenotype' includes individuals with some symptoms of autism, but who do not meet the full criteria for autism or other disorders. Mental retardation coexists in approximately two-thirds of individuals with ASD, except for Asperger syndrome, in which mental retardation is conspicuously absent (Jones et al., 2008). Genetic studies in autism often include family members with these less stringent diagnoses (Schellenberg et al., 2006).For a discussion of genetic heterogeneity of autism, see {209850}.
Related symptoms:
- Seizures
- Nevus
- Delayed speech and language development
- Tics
- Autism
SOURCES:
UMLS
OMIM
MONDO
More info about AUTISM, SUSCEPTIBILITY TO, X-LINKED 5; AUTSX5
Phang et al. (2001) noted that prospective studies of HPI probands identified through newborn screening as well as reports of several families have suggested that it is a metabolic disorder not clearly associated with clinical manifestations. Phang et al. (2001) concluded that HPI is a relatively benign condition in most individuals under most circumstances. However, other reports have suggested that some patients have a severe phenotype with neurologic manifestations, including epilepsy and mental retardation (Jacquet et al., 2003). Genetic Heterogeneity of HyperprolinemiaSee also hyperprolinemia type II (HYRPRO2 ), which is caused by mutation in the gene encoding pyrroline-5-carboxylate dehydrogenase (P5CDH, ALDH4A1; {606811}) on chromosome 1p36.
HYPERPROLINEMIA, TYPE I; HYRPRO1 Is also known as hpi, proline oxidase deficiency;proline oxidase deficiency
Related symptoms:
- Autosomal recessive inheritance
- Intellectual disability
- Seizures
- Global developmental delay
- Generalized hypotonia
SOURCES:
OMIM
MONDO
UMLS
ORPHANET
SCTID
More info about HYPERPROLINEMIA, TYPE I; HYRPRO1
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Other less relevant matches:
Huntington disease (HD) is an autosomal dominant progressive neurodegenerative disorder with a distinct phenotype characterized by chorea, dystonia, incoordination, cognitive decline, and behavioral difficulties. There is progressive, selective neural cell loss and atrophy in the caudate and putamen. Walker (2007) provided a detailed review of Huntington disease, including clinical features, population genetics, molecular biology, and animal models.
HUNTINGTON DISEASE; HD Is also known as huntington chorea;huntington chorea
Related symptoms:
- Autosomal dominant inheritance
- Seizures
- Pica
- Ataxia
- Cognitive impairment
SOURCES:
ORPHANET
OMIM
UMLS
ICD10
SCTID
More info about HUNTINGTON DISEASE; HD
Heterozygous deletion of chromosome 15q13.3 is associated with a highly variable phenotype, even within families segregating the same deletion. Individuals with the deletion may have mild to moderate mental retardation or learning difficulties, or may have no cognitive deficits. Some individuals have epilepsy. Various dysmorphic features have been described, but there is no consistent or recognizable phenotype (review by van Bon et al., 2009). Patients with homozygous deletions in this region have severe neurodevelopmental problems, with epileptic encephalopathy, hypotonia, and poor growth (Endris et al., 2010).
CHROMOSOME 15q13.3 DELETION SYNDROME Is also known as chromosome 15q13.3 microdeletion syndrome;del(15)(q13.3); monosomy 15q13.3
Related symptoms:
- Autosomal dominant inheritance
- Intellectual disability
- Seizures
- Global developmental delay
- Short stature
SOURCES:
ORPHANET
GARD
OMIM
UMLS
MONDO
MESH
DOID
SCTID
More info about CHROMOSOME 15q13.3 DELETION SYNDROME
17q12 microdeletion syndrome is a rare chromosomal anomaly syndrome resulting from the partial deletion of the long arm of chromosome 17 characterized by renal cystic disease, maturity onset diabetes of the young type 5, and neurodevelopmental disorders, such as cognitive impairment, developmental delay (particularly of speech), autistic traits and autism spectrum disorder. Müllerian aplasia in females, macrocephaly, mild facial dysmorphism (high forehead, deep set eyes and chubby cheeks) and transient hypercalcaemia have also been reported.
CHROMOSOME 17q12 DELETION SYNDROME Is also known as ;del(17)(q12); monosomy 17q12
Related symptoms:
- Autosomal dominant inheritance
- Intellectual disability
- Seizures
- Global developmental delay
- Short stature
SOURCES:
UMLS
DOID
ORPHANET
MONDO
GARD
OMIM
More info about CHROMOSOME 17q12 DELETION SYNDROME
VELOCARDIOFACIAL SYNDROME Is also known as chromosome 22q11.2 deletion syndrome, vcf syndrome;vcfs, shprintzen vcf syndrome
Related symptoms:
- Autosomal dominant inheritance
- Intellectual disability
- Seizures
- Global developmental delay
- Short stature
SOURCES:
OMIM
More info about VELOCARDIOFACIAL SYNDROME
DiGeorge syndrome (DGS) comprises hypocalcemia arising from parathyroid hypoplasia, thymic hypoplasia, and outflow tract defects of the heart. Disturbance of cervical neural crest migration into the derivatives of the pharyngeal arches and pouches can account for the phenotype. Most cases result from a deletion of chromosome 22q11.2 (the DiGeorge syndrome chromosome region, or DGCR). Several genes are lost including the putative transcription factor TUPLE1 which is expressed in the appropriate distribution. This deletion may present with a variety of phenotypes: Shprintzen, or velocardiofacial, syndrome (VCFS ); conotruncal anomaly face (or Takao syndrome); and isolated outflow tract defects of the heart including tetralogy of Fallot, truncus arteriosus, and interrupted aortic arch. A collective acronym CATCH22 has been proposed for these differing presentations. A small number of cases of DGS have defects in other chromosomes, notably 10p13 (see {601362}). In the mouse, a transgenic Hox A3 (Hox 1.5) knockout produces a phenotype similar to DGS as do the teratogens retinoic acid and alcohol.
DIGEORGE SYNDROME; DGS Is also known as chromosome 22q11.2 deletion syndrome, hypoplasia of thymus and parathyroids, third and fourth pharyngeal pouch syndrome
Related symptoms:
- Autosomal dominant inheritance
- Intellectual disability
- Seizures
- Global developmental delay
- Short stature
SOURCES:
OMIM
More info about DIGEORGE SYNDROME; DGS
Williams-Beuren syndrome is a multisystem disorder caused by hemizygous deletion of 1.5 to 1.8 Mb on chromosome 7q11.23, which contains approximately 28 genes. Pober (2010) reviewed the clinical features of Williams-Beuren syndrome as well as the genomic and genetic basis and clinical management.See also the distal chromosome 7q11.23 deletion syndrome (OMIM ), which occurs between the WBS region and the MAGI2 gene (OMIM ).
WILLIAMS-BEUREN SYNDROME; WBS Is also known as chromosome 7q11.23 deletion syndrome, 1.5- to 1.8-mb, williams syndrome;wms;ws;deletion 7q11.23; monosomy 7q11.23; williams-beuren syndrome
Related symptoms:
- Autosomal dominant inheritance
- Intellectual disability
- Seizures
- Global developmental delay
- Short stature
SOURCES:
MESH
ORPHANET
UMLS
DOID
OMIM
SCTID
NCIT
MONDO
GARD
More info about WILLIAMS-BEUREN SYNDROME; WBS
Top 5 symptoms//phenotypes associated to Delayed speech and language development and Schizophrenia
Symptoms // Phenotype |
% cases |
Seizures |
Very Common - Between 80% and 100% cases
|
Intellectual disability |
Common - Between 50% and 80% cases
|
Global developmental delay |
Common - Between 50% and 80% cases
|
Tics |
Common - Between 50% and 80% cases
|
Pica |
Common - Between 50% and 80% cases
|
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Other less frequent symptoms
Patients with Delayed speech and language development and Schizophrenia. may also develop some of the following symptoms:
Common Symptoms - More than 50% cases
Autosomal dominant inheritance
Uncommon Symptoms - Between 30% and 50% cases
Behavioral abnormality
Common Symptoms - More than 50% cases
Anxiety
Uncommon Symptoms - Between 30% and 50% cases
Hyperactivity
Short stature
Hearing impairment
Aggressive behavior
Cognitive impairment
Nevus
Microcephaly
Generalized hypotonia
Scoliosis
Muscular hypotonia
Depressivity
Autism
Abnormal facial shape
Atrial septal defect
Abnormality of cardiovascular system morphology
Obesity
Abnormal heart morphology
Blepharophimosis
Unilateral renal agenesis
Retrognathia
Cataract
Hypothyroidism
Patent ductus arteriosus
Retinal vascular tortuosity
Cerebral cortical atrophy
Diabetes mellitus
Arthritis
Chorea
Rheumatoid arthritis
Inguinal hernia
Strabismus
Ventricular septal defect
Milia
Epicanthus
Tetralogy of Fallot
Cleft palate
Micrognathia
Aplasia of the uterus
Protruding ear
Cholelithiasis
Abnormality of the pinna
Umbilical hernia
Arnold-Chiari malformation
Bicuspid aortic valve
Attention deficit hyperactivity disorder
Bulbous nose
Specific learning disability
Obsessive-compulsive behavior
Bipolar affective disorder
Anemia
Renal agenesis
Posterior embryotoxon
Restlessness
EEG abnormality
Autistic behavior
High palate
Open mouth
Ataxia
Macrotia
Intellectual disability, severe
Rare Symptoms - Less than 30% cases
Anteverted nares
Immunodeficiency
Recurrent infections
Posteriorly rotated ears
Absent speech
Renal cyst
Autoimmunity
Pulmonic stenosis
Short nose
Dysmetria
Hemolytic anemia
Vesicoureteral reflux
Bifid uvula
Amenorrhea
Low posterior hairline
Primary amenorrhea
Hernia
Spasticity
Thrombocytopenia
Recurrent urinary tract infections
Depressed nasal bridge
Feeding difficulties
Renal insufficiency
Malar flattening
High forehead
Hydronephrosis
Renal hypoplasia
Small nail
Multicystic kidney dysplasia
Hydrocephalus
Psychosis
Urethral stenosis
Subcortical cerebral atrophy
High hypermetropia
Thin upper lip vermilion
Short neck
Renal dysplasia
Fever
Upslanted palpebral fissure
Spina bifida
Hallucinations
Dysarthria
Impaired T cell function
Aplasia of the thymus
Abnormality of dental enamel
Arteria lusoria
Sacral meningocele
Right aortic arch with mirror image branching
Ptosis
Flexion contracture
Hypertonia
Right aortic arch
Craniosynostosis
Cleft lip
Abnormality of the kidney
Esotropia
Coarctation of aorta
Amblyopia
Vascular tortuosity
Sensorineural hearing impairment
Duodenal stenosis
Perimembranous ventricular septal defect
Hypocalcemia
Meningocele
Purpura
Nasal speech
Acne
Psoriasiform dermatitis
Hypoparathyroidism
Inflammation of the large intestine
Abnormality of the vasculature
Autoimmune hemolytic anemia
Autoimmune thrombocytopenia
Conotruncal defect
Myelomeningocele
Vitiligo
Truncus arteriosus
Stereotypy
Cystic renal dysplasia
Seborrheic dermatitis
Juvenile rheumatoid arthritis
Interrupted aortic arch
Graves disease
Cryptorchidism
Hypoplasia of the corpus callosum
Neoplasm
Hypertension
Paranoia
Gait disturbance
Developmental regression
Hyperreflexia
Tremor
Hemiparesis
Dental malocclusion
Upper limb undergrowth
Narrow forehead
Downslanted palpebral fissures
Mental deterioration
Hypertelorism
Macrocephaly
Frontal bossing
Nephritis
Cerebellar atrophy
Sleep disturbance
Short philtrum
Intellectual disability, mild
Type II diabetes mellitus
Failure to thrive
Dementia
Motor delay
Involuntary movements
Clinodactyly of the 5th finger
Abnormality of the voice
Intellectual disability, moderate
Proteinuria
Irritability
Short attention span
Nephrocalcinosis
Hypogonadotrophic hypogonadism
Nyctalopia
Increased bone mineral density
Cardiomegaly
Abnormality of the fingernails
Vocal cord dysfunction
Visual loss
Bilateral vocal cord paralysis
Hypercalcemia
Dysphonia
Abnormality of pelvic girdle bone morphology
Myxomatous mitral valve degeneration
Calcinosis
Medial flaring of the eyebrow
Sacral dimple
Ischemic stroke
Reduced bone mineral density
Overfriendliness
Nystagmus-induced head nodding
Abnormal dermatoglyphics
Spina bifida occulta
Early onset of sexual maturation
Functional abnormality of male internal genitalia
Dyssynergia
Thyroid hemiagenesis
Hoarse voice
Cutis laxa
Pointed chin
Stellate iris
Hemivertebrae
Atrophy/Degeneration involving the corticospinal tracts
Aplasia/Hypoplasia of the cerebellum
Descending aorta hypoplasia
Abnormal electroretinogram
Parathyroid hyperplasia
Scotoma
Genu valgum
Macroglossia
Thick vermilion border
Hypodontia
Stroke
Everted lower lip vermilion
Malabsorption
Nausea and vomiting
Smooth philtrum
Carious teeth
Abnormal cardiac septum morphology
Corneal opacity
Full cheeks
Joint hyperflexibility
Broad forehead
Small for gestational age
Neurological speech impairment
Low-set, posteriorly rotated ears
Hyperlordosis
Wide mouth
Hypertrophic cardiomyopathy
Joint stiffness
Joint laxity
Feeding difficulties in infancy
Postural instability
Broad nasal tip
Iris hypopigmentation
Recurrent otitis media
Narrow face
Dehydration
Aortic valve stenosis
Gingival overgrowth
Myocardial infarction
Hemianopia
Mitral regurgitation
Nephrolithiasis
Abnormality of the cardiovascular system
Hypsarrhythmia
Vestibular hypofunction
Sudden cardiac death
Paralysis
Otitis media
Abnormal form of the vertebral bodies
Abnormality of extrapyramidal motor function
Ventricular hypertrophy
Oral cleft
Mitral valve prolapse
Microdontia
Hypotelorism
Scarring
Thick lower lip vermilion
Hypoplasia of penis
Radioulnar synostosis
Precocious puberty
Redundant skin
Large earlobe
Vocal cord paralysis
Sudden death
Dyslexia
Enuresis
Abnormality of the cerebral vasculature
Colonic diverticula
Abnormality of the neck
Chronic constipation
Abnormality of the ankles
Tubulointerstitial abnormality
Nevus flammeus
Celiac disease
Blue irides
Down-sloping shoulders
Renal duplication
Loss of consciousness
Pulmonary artery stenosis
Multiple renal cysts
Patellar dislocation
Abnormality of lipid metabolism
Arnold-Chiari type I malformation
Tubulointerstitial nephritis
Insomnia
Synostosis of joints
Poor coordination
Phonophobia
Dysgraphia
Abnormality of nervous system morphology
Arterial stenosis
Peptic ulcer
Bladder diverticulum
Gait imbalance
Abnormality of refraction
Subvalvular aortic stenosis
Peripheral pulmonary artery stenosis
Periorbital fullness
Villous atrophy
Periorbital edema
Thyroid hypoplasia
Death in early adulthood
Increased nuchal translucency
Abnormal glucose tolerance
Cerebral ischemia
Aplasia/Hypoplasia of the iris
Right ventricular hypertrophy
Decreased plasma carnitine
Lacrimation abnormality
Soft skin
Hyperacusis
Elfin facies
Vertebral segmentation defect
Unilateral renal hypoplasia
Portal hypertension
Calcification of the aorta
Tracheoesophageal fistula
Chronic otitis media
Incoordination
Increased body weight
Hypoplastic toenails
Abnormality of dental morphology
Progressive hearing impairment
Supravalvular aortic stenosis
Polycystic ovaries
Obsessive-compulsive trait
Rectal prolapse
Adducted thumb
Impaired visuospatial constructive cognition
Abnormality of the diencephalon
Coronary artery stenosis
Abnormal carotid artery morphology
Hypercalciuria
Paroxysmal bursts of laughter
Flat cornea
Nocturia
Hypoplasia of the zygomatic bone
Renovascular hypertension
Megalocornea
Prematurely aged appearance
Abnormal renal morphology
Renal artery stenosis
Kyphoscoliosis
Aortic arch aneurysm
Hallux valgus
Facial cleft
Retinal arteriolar tortuosity
Abnormality of the bladder
Overriding aorta
Failure to thrive in infancy
Polyuria
Premature graying of hair
Infantile muscular hypotonia
Abnormal endocardium morphology
Pelvic kidney
Abnormal social behavior
Open bite
Abnormality of the gastric mucosa
Glucose intolerance
Infantile hypercalcemia
Arthralgia
Low-set ears
Pes planus
Agitation
Delayed gross motor development
Abnormality of the palpebral fissures
Increased head circumference
Numerous nevi
Eclabion
Prominent nasal tip
Deep palmar crease
Thick upper lip vermilion
Short 4th metacarpal
Impulsivity
Cerebral atrophy
Phimosis
Triphalangeal thumb
Melanocytic nevus
Finger clinodactyly
Deep philtrum
Choreoathetosis
Epileptic encephalopathy
Athetosis
Poor speech
Drooling
Mandibular prognathia
Long ear
Hypertrichosis
Hyperconvex nail
Flat face
Ovarian cyst
Shawl scrotum
Long fingers
Language impairment
Focal seizures with impairment of consciousness or awareness
Renal hypoplasia/aplasia
Horizontal nystagmus
Sparse and thin eyebrow
Elevated hepatic transaminase
Large fontanelles
Stage 5 chronic kidney disease
Bilateral sensorineural hearing impairment
Oligohydramnios
Highly arched eyebrow
Short foot
Hypermetropia
Short palm
Nail dystrophy
Facial asymmetry
Tapered finger
Synophrys
Ureterocele
Falls
Generalized seizures
Neurodegeneration
Bradykinesia
Neuronal loss in central nervous system
Brain atrophy
Abnormal cerebellum morphology
Hyperglycinuria
Infertility
Gliosis
Abnormality of eye movement
Akinesia
Cough
Abnormality of movement
Weight loss
Rigidity
Prolinuria
Gait ataxia
Hydroxyprolinuria
Hyperprolinemia
Dysphagia
Progressive neurologic deterioration
Bruxism
Severe global developmental delay
Nephroblastoma
Autosomal recessive inheritance
Retinopathy
Abnormality of the genital system
Clinodactyly
Encephalopathy
Ichthyosis
Nephropathy
Brachydactyly
Status epilepticus
Motor deterioration
Mania
Frequent temper tantrums
Suicidal ideation
Testicular atrophy
Dilated fourth ventricle
Chronic bronchitis
Head tremor
Hyperkinesis
Bronchitis
Hypokinesia
Personality changes
Long toe
Hypoplasia of the bladder
Gastroesophageal reflux
Femoral hernia
Parathyroid agenesis
Type I truncus arteriosus
Parathyroid hypoplasia
Esophoria
Abnormality of the thymus
Abnormality of the middle ear
Perisylvian polymicrogyria
Alcoholism
Anterior segment developmental abnormality
Tetany
Myopathy
Hypoplasia of the thymus
Sclerocornea
Exotropia
Broad thumb
Short palpebral fissure
Astigmatism
High, narrow palate
Iris coloboma
Polymicrogyria
Growth delay
Visual impairment
Nephrotic syndrome
Elevated serum creatine phosphokinase
Osteopenia
Abdominal pain
Coarse facial features
Glaucoma
Micropenis
Osteoporosis
Constipation
Cerebellar hypoplasia
Recurrent respiratory infections
Delayed skeletal maturation
Pain
Midface retrusion
Congestive heart failure
Pectus excavatum
Arrhythmia
Abnormality of the dentition
Long philtrum
Kyphosis
Myopia
Wide nasal bridge
Intrauterine growth retardation
Microtia
Telecanthus
Abnormality of upper lip
Eclampsia
Hypoplasia of the brainstem
Anal stenosis
Apathy
Hemiplegia
Preeclampsia
Dysdiadochokinesis
Narrow palpebral fissure
Abnormality of the hand
Holoprosencephaly
Peripheral demyelination
Abnormality of the ear
Intraventricular hemorrhage
Underdeveloped nasal alae
Congenital cataract
Anal atresia
Conductive hearing impairment
Hypospadias
X-linked recessive inheritance
Pancreatic aplasia
Ureteral atresia
Aplasia of the vagina
Myopathic facies
Basal ganglia calcification
Narrow mouth
Velopharyngeal insufficiency
Microphthalmia
Unilateral primary pulmonary dysgenesis
Unilateral lung agenesis
Congenital conductive hearing impairment
Vascular ring
Perineal fistula
Central nervous system degeneration
Psychotic episodes
Mood swings
Perseveration
Submucous cleft hard palate
Platybasia
Giant platelets
Abnormality of the larynx
Pulmonary artery atresia
Abnormality of the endocrine system
Echolalia
Delusions
Hearing abnormality
Pierre-Robin sequence
Axonal loss
Abnormal cochlea morphology
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Failure to thrive and Anal atresia, related diseases and genetic alterations
Cataract and Hemolytic anemia, related diseases and genetic alterations
Hepatomegaly and Osteoarthritis, related diseases and genetic alterations
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