Delayed speech and language development, and Psychosis

Diseases related with Delayed speech and language development and Psychosis

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


Top matches:

Medium match MENTAL RETARDATION, ANTERIOR MAXILLARY PROTRUSION, AND STRABISMUS; MRAMS

Related symptoms:

  • Autosomal recessive inheritance
  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Hearing impairment


SOURCES: MONDO OMIM UMLS

More info about MENTAL RETARDATION, ANTERIOR MAXILLARY PROTRUSION, AND STRABISMUS; MRAMS

Medium match SUCCINIC SEMIALDEHYDE DEHYDROGENASE DEFICIENCY; SSADHD

Succinic semialdehyde dehydrogenase deficiency (SSADHD) is a rare autosomal recessive neurologic disorder in which an enzyme defect in the GABA degradation pathway causes a consecutive elevation of gamma-hydroxybutyric acid (GHB) and GABA. The clinical features include developmental delay, hypotonia, mental retardation, ataxia, seizures, hyperkinetic behavior, aggression, and sleep disturbances (summary by Reis et al., 2012).

SUCCINIC SEMIALDEHYDE DEHYDROGENASE DEFICIENCY; SSADHD Is also known as ssadh deficiency, 4-hydroxybutyric aciduria, gaba metabolic defect, gamma-hydroxybutyric aciduria;4-hydroxybutyric aciduria; gamma-hydroxybutyric aciduria; ssadh deficiency

Related symptoms:

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


SOURCES: ORPHANET MONDO MESH SCTID DOID GARD UMLS OMIM

More info about SUCCINIC SEMIALDEHYDE DEHYDROGENASE DEFICIENCY; SSADHD

Medium match EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 9; EIEE9

Female restricted epilepsy with intellectual disability is a rare X-linked epilepsy syndrome characterized by febrile or afebrile seizures (mainly tonic-clonic, but also absence, myoclonic, and atonic) starting in the first years of life and, in most cases, developmental delay and intellectual disability of variable severity. Behavioral disturbances (e.g. autistic features, hyperactivity, and aggressiveness) are also frequently associated. This disease affects exclusively females, with male carriers being unaffected, despite an X-linked inheritance.

EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 9; EIEE9 Is also known as epilepsy, female-restricted, with mental retardation;efmr, juberg-hellman syndrome;efmr; juberg-hellman syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Scoliosis
  • Ataxia


SOURCES: GARD DOID MESH OMIM MONDO ORPHANET UMLS

More info about EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 9; EIEE9

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Other less relevant matches:

Medium match MENTAL RETARDATION, X-LINKED 30; MRX30

MENTAL RETARDATION, X-LINKED 30; MRX30 Is also known as mental retardation, x-linked 47;mrx47

Related symptoms:

  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Microcephaly
  • High palate


SOURCES: OMIM UMLS MONDO

More info about MENTAL RETARDATION, X-LINKED 30; MRX30

Medium match MACROCEPHALY/MEGALENCEPHALY SYNDROME, AUTOSOMAL RECESSIVE; MGCPH

Macrocephaly refers to an abnormally enlarged head inclusive of the scalp, cranial bones, and intracranial contents. Macrocephaly may be due to megalencephaly (true enlargement of the brain parenchyma), and the 2 terms are often used interchangeably in the genetic literature (reviews by Olney, 2007 and Williams et al., 2008). Autosomal recessive macrocephaly/megalencephaly syndrome is characterized by an enlarged cranium apparent at birth or in early childhood. Affected individuals have intellectual disability and may have dysmorphic facial features resulting from the macrocephaly (summary by Alfaiz et al., 2014).

Related symptoms:

  • Autosomal recessive inheritance
  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Cognitive impairment


SOURCES: OMIM UMLS MONDO MESH GARD

More info about MACROCEPHALY/MEGALENCEPHALY SYNDROME, AUTOSOMAL RECESSIVE; MGCPH

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 ACYL-CoA DEHYDROGENASE, SHORT-CHAIN, DEFICIENCY OF; ACADSD

SCAD deficiency is an autosomal recessive metabolic disorder of fatty acid beta-oxidation. Clinical features are variable: a severe form of the disorder can cause infantile onset of acidosis and neurologic impairment, whereas some patients develop only myopathy. With the advent of screening for inborn errors of metabolism, patients with putative pathogenic mutations but who remain asymptomatic have also been identified (summary by Shirao et al., 2010).

ACYL-CoA DEHYDROGENASE, SHORT-CHAIN, DEFICIENCY OF; ACADSD Is also known as acads deficiency, lipid-storage myopathy secondary to short-chain acyl-coa dehydrogenase deficiency, scadh deficiency, scad deficiency;acads deficiency; scad deficiency; scadd

Related symptoms:

  • Autosomal recessive inheritance
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly


SOURCES: MESH MONDO UMLS OMIM NCIT ICD10 SCTID DOID ORPHANET GARD

More info about ACYL-CoA DEHYDROGENASE, SHORT-CHAIN, DEFICIENCY OF; ACADSD

Medium match SPASTIC PARAPLEGIA 20, AUTOSOMAL RECESSIVE; SPG20

gene (13q13.1), which encodes the protein spartin.

SPASTIC PARAPLEGIA 20, AUTOSOMAL RECESSIVE; SPG20 Is also known as troyer syndrome, spastic paraparesis, childhood-onset, with distal muscle wasting, spastic paraplegia, autosomal recessive, troyer type;childhood-onset spastic paraparesis-distal muscle wasting syndrome; spg20; troyer syndrome

Related symptoms:

  • Autosomal recessive inheritance
  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: DOID ORPHANET MESH GARD OMIM MONDO SCTID UMLS

More info about SPASTIC PARAPLEGIA 20, AUTOSOMAL RECESSIVE; SPG20

Medium match WOODHOUSE-SAKATI SYNDROME

Woodhouse-Sakati syndrome is a multisystemic disorder characterized by hypogonadism, alopecia, diabetes mellitus, intellectual deficit and extrapyramidal signs with choreoathetoid movements and dystonia.

WOODHOUSE-SAKATI SYNDROME Is also known as hypogonadism, alopecia, diabetes mellitus, mental retardation, deafness, and extrapyramidal syndrome, extrapyramidal disorder, progressive, with primary hypogonadism, mental retardation, and alopecia;diabetes-hypogonadism-deafness-intellectual disability syndrome

Related symptoms:

  • Autosomal recessive inheritance
  • Intellectual disability
  • Seizures
  • Hearing impairment
  • Scoliosis


SOURCES: GARD SCTID ORPHANET OMIM MONDO UMLS MESH

More info about WOODHOUSE-SAKATI 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

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

Symptoms // Phenotype % cases
Intellectual disability Very Common - Between 80% and 100% cases
Seizures Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Autosomal recessive inheritance Common - Between 50% and 80% cases
Hyperactivity Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Scoliosis Cognitive impairment Microcephaly Generalized hypotonia Aggressive behavior Dystonia Hyperreflexia Ataxia Anxiety Intellectual disability, severe Growth delay Macrocephaly Drooling Cataract Flexion contracture Macrotia High palate Gait disturbance Intellectual disability, mild Spasticity Babinski sign Gait ataxia Downslanted palpebral fissures Hallucinations Pica Prominent nose Behavioral abnormality Abnormality of the dentition EEG abnormality Autism

Rare Symptoms - Less than 30% cases


Intellectual disability, moderate X-linked recessive inheritance Genu valgum Spastic paraplegia Bruxism Hearing impairment Dysarthria Tics Muscular hypotonia Epicanthus Short nose Motor delay Low-set ears Oxycephaly Thin upper lip vermilion Hypertelorism Failure to thrive Muscle weakness Pes cavus Restlessness Optic atrophy Short attention span Prominent nasal bridge Abnormality of movement Pectus excavatum Paraplegia Clinodactyly Frontal bossing Spastic paraparesis Autistic behavior Spastic gait Aciduria Generalized myoclonic seizures Apraxia Generalized tonic-clonic seizures Status epilepticus Clumsiness Absence seizures Depressivity Choreoathetosis Camptodactyly Abnormality of extrapyramidal motor function Strabismus Micrognathia Abnormality of metabolism/homeostasis Nevus Infantile onset Dental crowding Encephalopathy Hypogonadism Protruding ear Hypothyroidism Mental deterioration High forehead Diabetes mellitus Triangular face Sparse hair Arthrogryposis multiplex congenita Delayed puberty Alopecia Sensory neuropathy Polyneuropathy Decreased testicular size Dental malocclusion Amenorrhea Bilateral sensorineural hearing impairment Primary amenorrhea Micropenis Abnormality of the nares Diarrhea Hammertoe Premature loss of teeth Cerebellar vermis atrophy Ankle clonus Slurred speech Spastic diplegia Impaired vibratory sensation Emotional lability Upper limb muscle weakness Abnormality of the hand Hoarse voice Childhood onset Overgrowth Lower limb spasticity Specific learning disability Scleroderma Dysuria Edema Panic attack Peripheral neuropathy Sensorineural hearing impairment Hyperextensible hand joints Suicidal ideation Morphea Hyperplasia of midface Knee clonus Abnormality of the thumb Abnormality of brain morphology Abnormal hand morphology Athetosis Overbite Upper limb spasticity Speech apraxia Spastic dysarthria Sparse scalp hair Subvalvular aortic stenosis Fine hair Cleft lip Clinodactyly of the 5th finger Patent ductus arteriosus Hernia Posteriorly rotated ears Abnormality of the genital system Sandal gap Gastroesophageal reflux Joint laxity Sporadic Short philtrum Attention deficit hyperactivity disorder Pectus carinatum Small for gestational age Joint hyperflexibility Facial asymmetry Inguinal hernia Otitis media Horseshoe kidney Anorexia Narrow face Aortic valve stenosis Pulmonary arterial hypertension Recurrent otitis media Oral cleft Pulmonic stenosis Single transverse palmar crease Stereotypy Tapered finger Abnormality of skin pigmentation Everted lower lip vermilion Long face Hypospadias Microphthalmia Myocardial infarction Aplasia/Hypoplasia of the eyebrow Broad face Heart block Insulin-resistant diabetes mellitus Autoimmune thrombocytopenia Hypoplasia of the uterus Sparse eyebrow Flat occiput Bipolar affective disorder Premature ovarian insufficiency Hyperlipidemia Purpura Hypogonadotrophic hypogonadism Hypergonadotropic hypogonadism Dehydration Anodontia Decreased serum testosterone level Hypertension Progressive extrapyramidal movement disorder Milia Abnormal facial shape Autosomal dominant inheritance Progressive alopecia Abnormal T-wave Hypoplasia of the fallopian tube Decreased serum insulin-like growth factor 1 Shallow orbits Abnormal spermatogenesis Streak ovary Abnormal cerebellum morphology Decreased serum estradiol Aspiration Nasal speech Increased thyroid-stimulating hormone level Hepatic steatosis Sleep disturbance Megalencephaly Delayed gross motor development Agitation Long ear Myopia Hydrocephalus Mandibular prognathia Coarse facial features Broad forehead Dolichocephaly Astigmatism Cerebral calcification Pointed chin Abnormality of the musculature Scaphocephaly Open mouth Patellar dislocation Celiac disease Cortical tubers Patellar subluxation Adrenal medullary hypoplasia Short neck Tremor Kyphosis Arrhythmia Pneumonia Absent speech Muscular hypotonia of the trunk Abnormal pyramidal sign Slow progression Schizophrenia Flat face Parkinsonism Hyperkinesis Visual impairment Hypermetropia Poor speech Esotropia Amblyopia Open bite Hyperplasia of the maxilla Hyporeflexia Abnormality of the nervous system Abnormality of the eye Abnormality of eye movement Oculomotor apraxia Self-injurious behavior Disinhibition Upslanted palpebral fissure Cataplexy Paroxysmal dystonia Fever X-linked inheritance Developmental regression Focal seizures Febrile seizures Cutaneous photosensitivity Epileptic encephalopathy Atonic seizures Hyperventilation Hemiclonic seizures Intermittent hyperventilation Anteverted nares Small hand Tetraplegia Gliosis Brachydactyly External ophthalmoplegia Neonatal onset Progressive external ophthalmoplegia Decreased plasma carnitine Organic aciduria Ethylmalonic aciduria Ketotic hypoglycemia U-Shaped upper lip vermilion Nonketotic hypoglycemia Minicore myopathy Episodic metabolic acidosis Hypoglycemic encephalopathy Short stature Skeletal muscle atrophy Metabolic acidosis Dysphagia Cerebellar atrophy Abnormality of the skeletal system Constipation Kyphoscoliosis Hydronephrosis Clonus Difficulty walking Lower limb muscle weakness Abnormality of the foot Distal amyotrophy Dysmetria Joint hypermobility Short foot Decreased fetal movement Ophthalmoplegia Spastic tetraplegia Progressive spastic paraparesis Postnatal microcephaly Paraparesis Mania Resting tremor Progressive spasticity Facial hypotonia Macroorchidism Shuffling gait Slender build Poor coordination Excessive salivation Wrist flexion contracture Juvenile cataract Ptosis Lethargy Myopathy Feeding difficulties Intrauterine growth retardation Cardiomyopathy Hypertonia Vomiting Congestive heart failure Respiratory distress Acidosis Feeding difficulties in infancy Facial palsy Hypoglycemia Respiratory tract infection Abnormality of the cerebral white matter Six lumbar vertebrae



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