Delayed speech and language development, and Bipolar affective disorder

Diseases related with Delayed speech and language development and Bipolar affective disorder

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


Top matches:

Medium match CHROMOSOME 15q13.3 DELETION SYNDROME

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

Medium match CHROMOSOME 3q29 DELETION SYNDROME

3q29 microdeletion syndrome is a recurrent subtelomeric deletion syndrome with variable clinical manifestations including intellectual deficit and dysmorphic features.

CHROMOSOME 3q29 DELETION SYNDROME Is also known as microdeletion 3q29 syndrome;3q subtelomere deletion syndrome; 3qter deletion; del(3)(q29); monosomy 3q29; monosomy 3qter

Related symptoms:

  • Autosomal dominant inheritance
  • Intellectual disability
  • Global developmental delay
  • Pica
  • Microcephaly


SOURCES: OMIM MONDO ORPHANET UMLS SCTID MESH GARD DOID

More info about CHROMOSOME 3q29 DELETION SYNDROME

Medium match VELOCARDIOFACIAL 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

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Other less relevant matches:

Medium match DIGEORGE SYNDROME; DGS

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

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 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 44; EIEE44

Related symptoms:

  • Autosomal recessive inheritance
  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature


SOURCES: OMIM UMLS MONDO

More info about EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 44; EIEE44

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 HUNTINGTON DISEASE; HD

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

Medium match MENTAL RETARDATION, X-LINKED, SYNDROMIC 13; MRXS13

The MECP2 gene is mutated in Rett syndrome (RTT ), a severe neurodevelopmental disorder that almost always occurs in females. Males with non-RTT mutations in the MECP2 gene can demonstrate a wide variety of phenotypes, including X-linked mental retardation with spasticity and other variable features, described here, and Lubs X-linked mental retardation syndrome (MRXSL ). Males with RTT-associated MECP2 mutations have neonatal severe encephalopathy that is usually lethal (OMIM ) (Moog et al., 2003; Villard, 2007).

MENTAL RETARDATION, X-LINKED, SYNDROMIC 13; MRXS13 Is also known as mental retardation, x-linked 79;mrx79, mental retardation, x-linked 16;mrx16, mental retardation, x-linked, with spasticity, mental retardation with psychosis, pyramidal signs, and macroorchidism;ppmx;lindsay-burn syndrome; ppm-x

Related symptoms:

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


SOURCES: UMLS MONDO GARD ORPHANET OMIM SCTID DOID

More info about MENTAL RETARDATION, X-LINKED, SYNDROMIC 13; MRXS13

Medium match SPINOCEREBELLAR ATAXIA 7; SCA7

Spinocerebellar ataxia-7 (SCA7) is an autosomal dominant neurodegenerative disorder characterized by adult onset of progressive cerebellar ataxia associated with pigmental macular dystrophy. In her classification of ataxia, Harding (1982) referred to progressive cerebellar ataxia with pigmentary macular degeneration as type II ADCA (autosomal dominant cerebellar ataxia). The age at onset, degree of severity, and rate of progression vary among and within families. Associated neurologic signs, such as ophthalmoplegia, pyramidal or extrapyramidal signs, deep sensory loss, or dementia, are also variable. Genetic anticipation is observed and is greater in paternal than in maternal transmissions (Benomar et al., 1994; summary by David et al., 1996).For a general discussion of autosomal dominant spinocerebellar ataxia, see SCA1 (OMIM ).

SPINOCEREBELLAR ATAXIA 7; SCA7 Is also known as olivopontocerebellar atrophy iii;opca3, opca iii, opca with retinal degeneration, opca with macular degeneration and external ophthalmoplegia, autosomal dominant cerebellar ataxia, type ii, adca, type ii;ataxia with pigmentary retinopathy; cerebellar syndrome-pigmentary maculopathy syndrome; sca7

Related symptoms:

  • Autosomal dominant inheritance
  • Global developmental delay
  • Generalized hypotonia
  • Ataxia
  • Nystagmus


SOURCES: DOID GARD ORPHANET MONDO SCTID UMLS OMIM NCIT

More info about SPINOCEREBELLAR ATAXIA 7; SCA7

Top 5 symptoms//phenotypes associated to Delayed speech and language development and Bipolar affective disorder

Symptoms // Phenotype % cases
Seizures Common - Between 50% and 80% cases
Autosomal dominant inheritance Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Generalized hypotonia 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 Bipolar affective disorder. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases


Cognitive impairment

Uncommon Symptoms - Between 30% and 50% cases


Microcephaly

Common Symptoms - More than 50% cases


Intellectual disability

Uncommon Symptoms - Between 30% and 50% cases


Behavioral abnormality

Common Symptoms - More than 50% cases


Nevus

Uncommon Symptoms - Between 30% and 50% cases


Ataxia Anxiety Schizophrenia Dementia Gait disturbance Cerebellar atrophy Chorea Mania Spasticity Aggressive behavior Mental deterioration Milia Dysarthria Gait ataxia Macrocephaly Intellectual disability, severe EEG abnormality Failure to thrive Hyperactivity Hyperreflexia Psychosis Abnormal facial shape Short stature Encephalopathy Tics Depressivity High palate Cataract Micrognathia Cerebral cortical atrophy Gliosis Rheumatoid arthritis Cerebral atrophy Inguinal hernia Primary amenorrhea Patent ductus arteriosus Posteriorly rotated ears Delusions Dysmetria Arthritis Absent speech Nasal speech Muscular hypotonia Scoliosis Hypoplasia of the corpus callosum Anemia Personality changes Amenorrhea Short neck Obesity Abnormality of the pinna Tremor Blepharophimosis Short philtrum Abnormal heart morphology Attention deficit hyperactivity disorder Macrotia Restlessness Bulbous nose Specific learning disability Atrial septal defect Abnormality of cardiovascular system morphology

Rare Symptoms - Less than 30% cases


Retinal vascular tortuosity Tetralogy of Fallot Aplasia of the uterus Renal agenesis Paraparesis Interrupted aortic arch Bifid uvula Strabismus Spastic paraparesis Duodenal stenosis Hemolytic anemia Hydrocephalus Thrombocytopenia Recurrent infections Graves disease Autoimmunity Spastic gait Progressive neurologic deterioration Peripheral demyelination Umbilical hernia Babinski sign Conotruncal defect Hypothyroidism Motor delay Retrognathia Immunodeficiency Perimembranous ventricular septal defect Low posterior hairline Myelomeningocele Impaired T cell function Cholelithiasis Abnormality of movement Arteria lusoria Autoimmune thrombocytopenia Meningocele Autoimmune hemolytic anemia Sacral meningocele Neuronal loss in central nervous system Inflammation of the large intestine Hypoparathyroidism Unilateral renal agenesis Psoriasiform dermatitis Right aortic arch with mirror image branching Acne Ptosis Truncus arteriosus Renal dysplasia Purpura Hypertonia Spina bifida Vitiligo Juvenile rheumatoid arthritis Seborrheic dermatitis Bicuspid aortic valve Head tremor Fever Flexion contracture Posterior embryotoxon Dysdiadochokinesis Dysphagia Arnold-Chiari malformation Aplasia of the thymus Hypocalcemia Spastic paraplegia Ventricular septal defect Arrhythmia Incoordination Mask-like facies Involuntary movements Clumsiness Obsessive-compulsive behavior Epicanthus Memory impairment Hypertelorism Bradykinesia Abnormality of eye movement Unsteady gait Weight loss Rigidity Cleft palate Hypertension Dystonia Choreoathetosis Microphthalmia Intellectual disability, moderate Intellectual disability, mild Frontal bossing Clinodactyly of the 5th finger Clinodactyly Abnormality of the genital system Autism Thin upper lip vermilion Feeding difficulties Retinopathy Downslanted palpebral fissures Autosomal recessive inheritance Slow saccadic eye movements Tapered finger Hypokinesia Athetosis Abnormality of the dentition Low-set ears Hypospadias Postnatal microcephaly Hearing impairment Abnormal pyramidal sign Developmental regression Paranoia Paraplegia Oxycephaly Abnormality of extrapyramidal motor function Blindness Hernia Muscle weakness Progressive encephalopathy Pulmonic stenosis Optic atrophy Cleft lip Irritability Gastroesophageal reflux Nystagmus Muscular hypotonia of the trunk Right aortic arch Delayed myelination Cerebral hypomyelination Premature ovarian insufficiency Juvenile onset Lethargy Jerky head movements Abnormality of the cerebral white matter Generalized myoclonic seizures Opisthotonus Poor eye contact Distal muscle weakness Basal ganglia gliosis CNS hypomyelination Axonal degeneration Secondary amenorrhea Simultanapraxia Vomiting Hypsarrhythmia Coma Emotional lability Hemiparesis Encephalitis Leukodystrophy CNS demyelination Hyperventilation Leukoencephalopathy Peripheral neuropathy Diarrhea Supranuclear ophthalmoplegia Primary gonadal insufficiency Congestive heart failure Ophthalmoplegia Retinal degeneration Neonatal hypotonia Photophobia Visual loss Reduced visual acuity Areflexia Progressive spastic paraparesis Progressive cerebellar ataxia Juvenile cataract Wrist flexion contracture Excessive salivation Poor coordination Slender build Bruxism Shuffling gait Dyskinesia Pigmentary retinopathy Facial hypotonia Olivopontocerebellar atrophy Abnormal fundus morphology Hemeralopia Limb tremor Restless legs Orofacial dyskinesia Spinocerebellar tract degeneration Pontocerebellar atrophy Blurred vision Sensory impairment Macular dystrophy Ophthalmoparesis Cone/cone-rod dystrophy Spinocerebellar atrophy External ophthalmoplegia Macular degeneration Progressive visual loss Macroorchidism Progressive spasticity Diffuse leukoencephalopathy Brain atrophy Hyperkinesis Bronchitis Akinesia Abnormality of the voice Generalized seizures Type II diabetes mellitus Neurodegeneration Abnormal cerebellum morphology Chronic bronchitis Infertility Falls Cough Diabetes mellitus Decreased circulating progesterone Cessation of head growth Spastic hemiparesis Upper limb undergrowth Dilated fourth ventricle Resting tremor Slow progression Drooling Spastic tetraplegia Apraxia Tetraplegia Parkinsonism Small hand Genu valgum X-linked recessive inheritance Testicular atrophy Pneumonia Pes cavus Jerky ocular pursuit movements Kyphosis Growth delay Frequent temper tantrums Suicidal ideation Abnormal head movements Velopharyngeal insufficiency Abnormality of ocular smooth pursuit Stereotypy Long face Everted lower lip vermilion Abnormality of skin pigmentation Single transverse palmar crease Prominent nose Oral cleft Otitis media Recurrent otitis media Pulmonary arterial hypertension Dental crowding Aortic valve stenosis Narrow face Anorexia Horseshoe kidney Sandal gap Joint hyperflexibility Renal cyst Holoprosencephaly Multicystic kidney dysplasia Hallucinations Open mouth Underdeveloped nasal alae Vesicoureteral reflux Congenital cataract Aspiration Anal atresia Conductive hearing impairment Six lumbar vertebrae Subvalvular aortic stenosis Broad face Shallow orbits Facial asymmetry Small for gestational age Narrow palpebral fissure Triphalangeal thumb Brachydactyly Anteverted nares Upslanted palpebral fissure Protruding ear Severe global developmental delay Synophrys Autistic behavior Poor speech Dental malocclusion Narrow forehead Epileptic encephalopathy Deep philtrum Finger clinodactyly Melanocytic nevus Phimosis Pectus carinatum Increased head circumference Prominent nasal bridge Sporadic Joint laxity Pectus excavatum Short nose Abnormality of the palpebral fissures Numerous nevi Impulsivity Eclabion Prominent nasal tip Deep palmar crease Thick upper lip vermilion Short attention span Short 4th metacarpal Abnormality of the hand Apathy Abnormality of higher mental function Abnormality of the middle ear Astigmatism Esotropia Short palpebral fissure Broad thumb Coarctation of aorta Exotropia Amblyopia Sclerocornea Hypoplasia of the thymus Tetany Femoral hernia Anterior segment developmental abnormality Alcoholism Perisylvian polymicrogyria Abnormality of the thymus Iris coloboma Slurred speech Abnormal saccadic eye movements Abnormal posturing Poor fine motor coordination Abnormality of the shoulder Abnormality of the basal ganglia Hyperactive deep tendon reflexes Global brain atrophy Vascular tortuosity Frequent falls Ventriculomegaly Parathyroid agenesis Type I truncus arteriosus Parathyroid hypoplasia Esophoria High, narrow palate Polymicrogyria Anal stenosis Pierre-Robin sequence Cystic renal dysplasia Abnormality of the larynx Pulmonary artery atresia Abnormality of the endocrine system Echolalia Hearing abnormality Axonal loss Platybasia Submucous cleft hard palate Basal ganglia calcification Abnormality of the vasculature Abnormality of the ear Myopathic facies Hypoplasia of the brainstem Giant platelets Perseveration Abnormality of the kidney Neoplasm Microtia Nephrotic syndrome Craniosynostosis Telecanthus Hydronephrosis Narrow mouth Unilateral primary pulmonary dysgenesis Mood swings Unilateral lung agenesis Congenital conductive hearing impairment Vascular ring Perineal fistula Central nervous system degeneration Psychotic episodes Genetic anticipation with paternal anticipation bias



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