Immunodeficiency, and Absent speech

Diseases related with Immunodeficiency and Absent speech

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

Top matches:

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Abnormal facial shape


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 51; MRD51

Microcephaly, seizures, and developmental delay is an autosomal recessive neurodevelopmental disorder with onset in infancy. There is a range of phenotypic severity: some patients have a disease course consistent with early infantile epileptic encephalopathy (EIEE), whereas others have more well-controlled seizures and a protracted course associated with cerebellar atrophy and peripheral neuropathy (Shen et al., 2010 and Poulton et al., 2013).For a general phenotypic description and a discussion of genetic heterogeneity of EIEE, see EIEE1 (308350).

MICROCEPHALY, SEIZURES, AND DEVELOPMENTAL DELAY; MCSZ Is also known as epileptic encephalopathy, early infantile, 10|eiee10

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: OMIM MENDELIAN

More info about MICROCEPHALY, SEIZURES, AND DEVELOPMENTAL DELAY; MCSZ

Epilepsy, hearing loss, and mental retardation syndrome is an autosomal recessive disorder characterized by severe neurologic impairment including intellectual disability, intractable epilepsy, microcephaly, abnormal muscle tone, and sensorineural hearing loss. Most affected individuals are nonambulatory, cannot sit unassisted, and have no speech development. More variable features include feeding difficulties, poor growth, cortical visual impairment, spasticity, scoliosis, immunodeficiency, and thrombocytopenia (summary by Tanaka et al., 2015).

MICROCEPHALY-INTELLECTUAL DISABILITY-SENSORINEURAL HEARING LOSS-EPILEPSY-ABNORMAL MUSCLE TONE SYNDROME Is also known as microcephaly-intellectual disability-sensorineural deafness-epilepsy-abnormal muscle tone syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about MICROCEPHALY-INTELLECTUAL DISABILITY-SENSORINEURAL HEARING LOSS-EPILEPSY-ABNORMAL MUSCLE TONE SYNDROME

Other less relevant matches:

IMMUNODEFICIENCY 49; IMD49 Is also known as severe combined immunodeficiency, t cell-negative, b cell-positive, nk cell-positive, with intellectual disability, spasticity, and craniofacial abnormalities|scid, t cell-negative, b cell-positive, nk cell-positive, with intellectual disability, spastici

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about IMMUNODEFICIENCY 49; IMD49

Lethal ataxia with deafness and optic atrophy (also known as Arts syndrome) is characterized by intellectual deficit, early-onset hypotonia, ataxia, delayed motor development, hearing impairment and loss of vision due to optic atrophy.

LETHAL ATAXIA WITH DEAFNESS AND OPTIC ATROPHY Is also known as mrxsarts|arts syndrome|mental retardation, x-linked, syndromic, arts type|mrxs18|mental retardation, x-linked, syndromic 18|ataxia, fatal x-linked, with deafness and loss of vision

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about LETHAL ATAXIA WITH DEAFNESS AND OPTIC ATROPHY

X-linked intellectual disability, Cabezas type is characterised by intellectual deficit, muscle wasting, short stature, a prominent lower lip, small testes, kyphosis and joint hyperextensibility. An abnormal gait, tremor, decreased fine motor coordination and impaired speech are also present. The syndrome has been described in six boys from three generations of the same family. Transmission is X-linked and the causative gene has been localised to the q24-q25 region of the X chromosome.

X-LINKED INTELLECTUAL DISABILITY, CABEZAS TYPE Is also known as cabezas syndrome|mrss|mrxs15|mental retardation, x-linked, with short stature|mental retardation, x-linked, with short stature, hypogonadism, and abnormal gait|mental retardation, x-linked, syndromic 15

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Generalized hypotonia
  • Microcephaly


SOURCES: OMIM ORPHANET MENDELIAN

More info about X-LINKED INTELLECTUAL DISABILITY, CABEZAS TYPE

Takenouchi-Kosaki syndrome is a highly heterogeneous autosomal dominant complex congenital developmental disorder affecting multiple organ systems. The core phenotype includes delayed psychomotor development with variable intellectual disability, dysmorphic facial features, and cardiac, genitourinary, and hematologic or lymphatic defects, including thrombocytopenia and lymphedema. Additional features may include abnormalities on brain imaging, skeletal anomalies, and recurrent infections. Some patients have a milder disease course reminiscent of Noonan syndrome (see, e.g., NS1, {163950}) (summary by Martinelli et al., 2018).

MACROTHROMBOCYTOPENIA-LYMPHEDEMA-DEVELOPMENTAL DELAY-FACIAL DYSMORPHISM-CAMPTODACTYLY SYNDROME Is also known as takenouchi-kosaki syndrome|macrothrombocytopenia and mental retardation syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment


SOURCES: OMIM ORPHANET MENDELIAN

More info about MACROTHROMBOCYTOPENIA-LYMPHEDEMA-DEVELOPMENTAL DELAY-FACIAL DYSMORPHISM-CAMPTODACTYLY SYNDROME

Phelan-McDermid syndrome is a developmental disorder with variable features. Common features include neonatal hypotonia, global developmental delay, normal to accelerated growth, absent to severely delayed speech, autistic behavior (see {209850}), and minor dysmorphic features (Precht et al., 1998; Prasad et al., 2000; Durand et al., 2007).

PHELAN-MCDERMID SYNDROME; PHMDS Is also known as chromosome 22q13.3 deletion syndrome|telomeric 22q13 monosomy syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about PHELAN-MCDERMID SYNDROME; PHMDS

VELOCARDIOFACIAL SYNDROME Is also known as chromosome 22q11.2 deletion syndrome|shprintzen vcf syndrome|vcf syndrome|vcfs

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: OMIM MENDELIAN

More info about VELOCARDIOFACIAL SYNDROME

IMDDHH is a multisystem disorder characterized by immunodeficiency, mildly delayed psychomotor development, poor overall growth from infancy, and hypohomocysteinemia. Additional features, such as congenital heart defects and liver involvement, are more variable (summary by Huppke et al., 2017).

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Growth delay


SOURCES: OMIM MENDELIAN

More info about IMMUNODEFICIENCY, DEVELOPMENTAL DELAY, AND HYPOHOMOCYSTEINEMIA; IMDDHH

Top 5 symptoms//phenotypes associated to Immunodeficiency and Absent speech

Symptoms // Phenotype % cases
Intellectual disability Very Common - Between 80% and 100% cases
Seizures Very Common - Between 80% and 100% cases
Global developmental delay Very Common - Between 80% and 100% cases
Generalized hypotonia Very Common - Between 80% and 100% cases
Microcephaly Common - Between 50% and 80% cases

Other less frequent symptoms

Patients with Immunodeficiency and Absent speech. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Motor delay Ventriculomegaly Delayed speech and language development Recurrent infections Hearing impairment Abnormal facial shape Behavioral abnormality Hypoplasia of the corpus callosum Aggressive behavior Bulbous nose Short stature Hyperactivity Intellectual disability, severe Growth delay Scoliosis Muscular hypotonia Posteriorly rotated ears Hernia Thrombocytopenia Atrial septal defect EEG abnormality Macrocephaly Abnormality of the pinna Hypertelorism Inguinal hernia Hypospadias Strabismus Obesity Umbilical hernia Short philtrum High palate Epicanthus Cryptorchidism Intellectual disability, mild Cognitive impairment Sensorineural hearing impairment Cerebral cortical atrophy Nystagmus Cerebellar atrophy Ataxia Patent ductus arteriosus Hyporeflexia

Rare Symptoms - Less than 30% cases

Tremor Multicystic kidney dysplasia Short neck Renal dysplasia Vesicoureteral reflux Gait disturbance Lymphedema Downslanted palpebral fissures Recurrent upper respiratory tract infections Unilateral renal agenesis Neonatal hypotonia Abnormality of the periventricular white matter Optic atrophy Anxiety Renal agenesis Clinodactyly of the 5th finger Long philtrum Abnormal heart morphology Bicuspid aortic valve Myopathic facies Wide nasal bridge Ptosis Mood swings Large hands Midface retrusion Narrow palpebral fissure Recurrent skin infections Broad-based gait Pulmonic stenosis Synophrys Blepharophimosis Wide mouth Dental malocclusion Intellectual disability, moderate Ventricular septal defect Hydronephrosis Psoriasiform dermatitis Feeding difficulties Upslanted palpebral fissure Agenesis of corpus callosum Abnormality of the dentition Micrognathia Absence seizures Cerebral visual impairment Hypertonia Visual impairment Failure to thrive Prominent nose Cortical gyral simplification Progressive microcephaly Gait ataxia Skeletal muscle atrophy Peripheral neuropathy Tall stature Facial asymmetry Autistic behavior Autism Tetraplegia Febrile seizures Narrow forehead Fulminant hepatic failure Fever Anemia Cataract Cleft palate Recurrent pyelonephritis Hair-pulling Tongue thrusting Abnormality of cardiovascular system morphology Hyperorality Cerebellar cortical atrophy Toenail dysplasia Episodic vomiting Periorbital fullness Delayed CNS myelination Concave nasal ridge Hydrocephalus Depressivity Bruxism Anal atresia Specific learning disability Underdeveloped nasal alae Chorea Bifid uvula Hemolytic anemia Dysmetria Congenital cataract Severe combined immunodeficiency Autoimmunity Mental deterioration Arthritis Conductive hearing impairment Retrognathia Hypothyroidism Dementia Heat intolerance Arachnoid cyst Peripheral demyelination Abnormality of the foot Chronic diarrhea Nephrolithiasis Long eyelashes Microtia Abnormality of the genital system Hepatitis Full cheeks Hypohidrosis Renal cyst Sleep disturbance High, narrow palate Thick vermilion border Thick eyebrow Hepatic failure Unsteady gait Dental crowding Pointed chin Palpebral edema Polycystic kidney dysplasia Impaired pain sensation Poor eye contact Weak cry Cellulitis 2-3 toe syndactyly Hypoplastic toenails Prominent supraorbital ridges Pulmonary artery stenosis Proptosis Poor head control Increased intracranial pressure Abnormality of the outer ear Sacral dimple Accelerated skeletal maturation Short chin Amenorrhea Tetralogy of Fallot Hypermetropia Perimembranous ventricular septal defect Retinal vascular tortuosity Paranoia Duodenal stenosis Impaired T cell function Right aortic arch Platybasia Interrupted aortic arch Velopharyngeal insufficiency Graves disease Aplasia of the uterus Seborrheic dermatitis Juvenile rheumatoid arthritis Pulmonary artery atresia Abnormality of the endocrine system Echolalia Giant platelets Conotruncal defect Truncus arteriosus Unilateral lung agenesis Leukoencephalopathy Hoarse voice Decreased antibody level in blood Abnormality of the cerebral white matter Cardiomyopathy Unilateral primary pulmonary dysgenesis Sacral meningocele Psychotic episodes Right aortic arch with mirror image branching Congenital conductive hearing impairment Perineal fistula Vascular ring Central nervous system degeneration Arteria lusoria Aplasia of the thymus Myelomeningocele Pierre-Robin sequence Psychosis Frontal bossing Dysdiadochokinesis Cholelithiasis Nasal speech Abnormality of the hand Schizophrenia Arnold-Chiari malformation Holoprosencephaly Apathy Purpura Hypocalcemia Spina bifida Hallucinations Open mouth Primary amenorrhea Low posterior hairline Rheumatoid arthritis Obsessive-compulsive behavior Delusions Anal stenosis Meningocele Hearing abnormality Hypoparathyroidism Vitiligo Bipolar affective disorder Posterior embryotoxon Autoimmune thrombocytopenia Acne Submucous cleft hard palate Axonal loss Autoimmune hemolytic anemia Basal ganglia calcification Abnormality of the ear Inflammation of the large intestine Hypoplasia of the brainstem Nausea and vomiting Dolichocephaly Decreased nerve conduction velocity Macroglossia Thick lower lip vermilion Intention tremor Interphalangeal joint contracture of finger Hypoplasia of penis Decreased testicular size Memory impairment Short foot Short thumb Small hand Short palm Polymicrogyria Babinski sign Joint hypermobility Joint hyperflexibility Delayed puberty Postnatal microcephaly Gynecomastia Pneumonia Truncal obesity Scaphocephaly Restlessness Striae distensae Biparietal narrowing Cerebellar vermis atrophy Abnormality of the musculature Cortical dysplasia Muscular hypotonia of the trunk Open bite Elevated serum creatine phosphokinase Cubitus valgus Cachexia Relative macrocephaly Acanthosis nigricans Sandal gap Toe syndactyly Neurological speech impairment Distal lower limb amyotrophy Drooling Severe global developmental delay Hirsutism Sensorimotor neuropathy Intrauterine growth retardation Brachydactyly Depressed nasal bridge Spinal cord posterior columns myelin loss Kyphosis Parietal cortical atrophy Increased urinary hypoxanthine Muscle mounding Pancreatic fibrosis Low frustration tolerance Gout Arnold-Chiari type I malformation Narrow mouth Progressive muscle weakness Camptodactyly of finger Coarse facial features CNS hypomyelination Limb hypertonia Congenital microcephaly Abnormal muscle tone Joint laxity Pes planus High forehead Progressive visual loss Mandibular prognathia Micropenis Hypogonadism Hyperhidrosis Pes cavus Short palpebral fissure Spastic tetraplegia Down-sloping shoulders Abnormal hair pattern Protruding ear Abnormality of the sternum Anomalous pulmonary venous return Protein-losing enteropathy Mild microcephaly Retinal dysplasia Congenital nystagmus Neoplasm Pericardial effusion Increased mean platelet volume Overlapping toe Hyperreflexia Proximal placement of thumb Sparse eyebrow Hypoalbuminemia Tented upper lip vermilion Widely spaced teeth Total anomalous pulmonary venous return Macrothrombocytopenia Wormian bones Headache Irritability Eosinophilia Deeply set eye Gastroesophageal reflux Macrotia Constipation Malar flattening Intestinal lymphangiectasia Diarrhea Vomiting Natal tooth Leukopenia Pain Eversion of lateral third of lower eyelids Flared nostrils Abnormal intestine morphology Exotropia Tics Low-set ears Clinodactyly Lymphopenia Inflammatory abnormality of the skin Abnormality of the skeletal system Spasticity Flexion contracture Visual loss Cerebellar hypoplasia Abnormality of toe Moderately short stature Areflexia Small earlobe Abnormality of earlobe Abdominal obesity Panhypopituitarism Respiratory insufficiency Prominent forehead Bilateral sensorineural hearing impairment Highly arched eyebrow Dandy-Walker malformation Encephalopathy Webbed neck Dysphagia Nevus Ascites Tapered finger Retinal detachment Reduced visual acuity Downturned corners of mouth Smooth philtrum Polyneuropathy Abnormal cardiac septum morphology Camptodactyly Epileptic encephalopathy Thin upper lip vermilion IgA deficiency


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Motor delay and Nephropathy, related diseases and genetic alterations Depressed nasal bridge and Triangular face, related diseases and genetic alterations High palate and Psoriasiform dermatitis, related diseases and genetic alterations