Autoimmunity, and Polymicrogyria

Diseases related with Autoimmunity and Polymicrogyria

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


Top matches:

Low 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 hypoplasia of thymus and parathyroids|chromosome 22q11.2 deletion syndrome|third and fourth pharyngeal pouch syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Hearing impairment


SOURCES: OMIM MENDELIAN

More info about DIGEORGE SYNDROME; DGS

Low match COWDEN SYNDROME


Cowden syndrome (CS) is a difficult to recognize, under-diagnosed genodermatosis characterized by the presence of multiple hamartomas in various tissues and an increased risk for malignancies of the breast, thyroid, endometrium, kidney and colorectum. When CS is accompanied by germline PTEN mutations, it belongs to the PTEN hamartoma tumor syndrome (PHTS; see this term) group.

COWDEN SYNDROME Is also known as bzs|cowden disease|bbrs|macrocephaly, multiple lipomas, and hemangiomata|pten hamartoma tumor syndrome with granular cell tumor|bannayan-zonana syndrome|macrocephaly, pseudopapilledema, and multiple hemangiomata|cs|cd|mham|pten hamartoma tumor syndrome|ri

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about COWDEN SYNDROME

Low match KABUKI SYNDROME 1; KABUK1


Kabuki syndrome is a congenital mental retardation syndrome with additional features, including postnatal dwarfism, a peculiar facies characterized by long palpebral fissures with eversion of the lateral third of the lower eyelids (reminiscent of the make-up of actors of Kabuki, a Japanese traditional theatrical form), a broad and depressed nasal tip, large prominent earlobes, a cleft or high-arched palate, scoliosis, short fifth finger, persistence of fingerpads, radiographic abnormalities of the vertebrae, hands, and hip joints, and recurrent otitis media in infancy (Niikawa et al., 1981). Genetic HeterogeneityKabuki syndrome-2 (OMIM ) is caused by mutation in the KDM6A gene (OMIM ) on chromosome Xp11.3.

KABUKI SYNDROME 1; KABUK1 Is also known as kabuki syndrome|kabuki make-up syndrome|kms|niikawa-kuroki syndrome

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about KABUKI SYNDROME 1; KABUK1

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Other less relevant matches:

Low match MELAS


MELAS (Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke) syndrome is a rare progressive multisystemic disorder characterized by encephalomyopathy, lactic acidosis, and stroke-like episodes. Other features include endocrinopathy, heart disease, diabetes, hearing loss, and neurological and psychiatric manifestations.

MELAS Is also known as mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes|melas syndrome|mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Hearing impairment


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about MELAS

Low match BLEEDING DISORDER, PLATELET-TYPE, 17; BDPLT17


Platelet-type bleeding disorder-17 is an autosomal dominant disorder characterized by increased bleeding tendency due to abnormal platelet function. It is a type of 'gray platelet syndrome' because the platelets appear abnormal on light microscopy. Electron microscopy shows decreased or absent alpha-granules within platelets, and bone marrow biopsy shows increased numbers of abnormal megakaryocytes, suggesting a defect in megakaryopoiesis and platelet production. The bleeding severity is variable (summary by Monteferrario et al., 2014).For a discussion of genetic heterogeneity of platelet-type bleeding disorder, see BDPLT1 (OMIM ).

BLEEDING DISORDER, PLATELET-TYPE, 17; BDPLT17 Is also known as thrombasthenia-thrombocytopenia, hereditary

Related symptoms:

  • Anemia
  • Thrombocytopenia
  • Hypospadias
  • Patent ductus arteriosus
  • Bruising susceptibility


SOURCES: OMIM MESH MENDELIAN

More info about BLEEDING DISORDER, PLATELET-TYPE, 17; BDPLT17

Low match SPONDYLOMETAPHYSEAL DYSPLASIA, SEDAGHATIAN TYPE


Spondylometaphyseal dysplasia (SEMD), Sedaghatian type is a neonatal lethal form of spondylometaphyseal dysplasia characterized by severe metaphyseal chondrodysplasia, mild rhizomelic shortness of the upper limbs, and mild platyspondyly.

SPONDYLOMETAPHYSEAL DYSPLASIA, SEDAGHATIAN TYPE Is also known as sedaghatian chondrodysplasia|metaphyseal chondrodysplasia, congenital lethal

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Muscular hypotonia
  • Depressed nasal bridge
  • Brachydactyly


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about SPONDYLOMETAPHYSEAL DYSPLASIA, SEDAGHATIAN TYPE

Low match NIJMEGEN BREAKAGE SYNDROME


Nijmegen breakage syndrome is a rare genetic disease presenting at birth with microcephaly, dysmorphic facial features, becoming more noticeable with age, growth delay, and later-onset complications such as malignancies and infections.

NIJMEGEN BREAKAGE SYNDROME Is also known as microcephaly-immunodeficiency-lymphoreticuloma syndrome|ataxia-telangiectasia variant v1|microcephaly with normal intelligence, immunodeficiency, and lymphoreticular malignancies|at-v1|berlin breakage syndrome|ataxia-telangiectasia, variant 1|seemanova sy

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Microcephaly
  • Ataxia


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about NIJMEGEN BREAKAGE SYNDROME

Low match SCHIMKE IMMUNO-OSSEOUS DYSPLASIA


Schimke immuno-osseous dysplasia (SIOD) is a multisystem disorder characterized by spondyloepiphyseal dysplasia and disproportionate short stature, facial dysmorphism, T-cell immunodeficiency, and glomerulonephritis with nephrotic syndrome.

SCHIMKE IMMUNO-OSSEOUS DYSPLASIA Is also known as immunoosseous dysplasia, schimke type|schimke syndrome|spondyloepiphyseal dysplasia-nephrotic syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Scoliosis
  • Growth delay


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about SCHIMKE IMMUNO-OSSEOUS DYSPLASIA

Low match EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 2; FFEVF2


Familial focal epilepsy with variable foci (FFEVF) is an autosomal dominant form of epilepsy characterized by focal seizures arising from different cortical regions, including the temporal, frontal, parietal, and occipital lobes. Seizure types commonly include temporal lobe epilepsy (TLE), frontal lobe epilepsy (FLE), and nocturnal frontal lobe epilepsy (NFLE). A subset of patients have structural brain abnormalities, particularly focal cortical dysplasia (FCD). There is significant incomplete penetrance, with many unaffected mutation carriers within a family (summary by Ricos et al., 2016).For a discussion of genetic heterogeneity of FFEVF, see FFEVF1 (OMIM ).

Related symptoms:

  • Intellectual disability
  • Seizures
  • Neoplasm
  • Polymicrogyria
  • Focal-onset seizure


SOURCES: OMIM MENDELIAN

More info about EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 2; FFEVF2

Low match POLYMICROGYRIA, BILATERAL PERISYLVIAN, AUTOSOMAL RECESSIVE; BPPR


Autosomal recessive bilateral perisylvian polymicrogyria is characterized by strikingly restricted polymicrogyria limited to the cortex surrounding the Sylvian fissure. Affected individuals have intellectual and language difficulty and seizures, but no motor disability (Bae et al., 2014).

POLYMICROGYRIA, BILATERAL PERISYLVIAN, AUTOSOMAL RECESSIVE; BPPR Is also known as pmgr

Related symptoms:

  • Intellectual disability
  • Seizures
  • Nystagmus
  • Polymicrogyria
  • Esotropia


SOURCES: OMIM MENDELIAN

More info about POLYMICROGYRIA, BILATERAL PERISYLVIAN, AUTOSOMAL RECESSIVE; BPPR

Top 5 symptoms//phenotypes associated to Autoimmunity and Polymicrogyria

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases
Global developmental delay Uncommon - Between 30% and 50% cases
Anemia Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Autoimmunity and Polymicrogyria. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Hypothyroidism Immunodeficiency Short neck Diarrhea Growth delay Abnormality of the kidney Purpura Thrombocytopenia Recurrent infections Kyphosis Atrial septal defect Cognitive impairment Hearing impairment Microcephaly Scoliosis Neoplasm Micrognathia Skeletal muscle atrophy Cafe-au-lait spot Astigmatism Hemolytic anemia Hashimoto thyroiditis Amenorrhea Thyroiditis Ataxia Respiratory insufficiency Lymphopenia Autoimmune thrombocytopenia Autoimmune hemolytic anemia Perisylvian polymicrogyria Vitiligo Failure to thrive Lymphoma Muscle weakness Abnormal cerebellum morphology Intellectual disability, moderate Motor delay Attention deficit hyperactivity disorder Abnormality of neuronal migration Brachydactyly Headache Myopia Muscular hypotonia Generalized hypotonia Ptosis Malabsorption Fever Posteriorly rotated ears High palate Hypospadias Hydronephrosis Pneumonia Depressed nasal bridge Anal atresia Cleft palate Heterotopia Renal insufficiency Abnormal facial shape Abnormality of the dentition Patent ductus arteriosus Abnormality of the pinna Hypertelorism

Rare Symptoms - Less than 30% cases


Decreased antibody level in blood Arrhythmia Joint hypermobility Nausea and vomiting Leukemia Platyspondyly Protruding ear Hirsutism Autism Delayed skeletal maturation Respiratory failure Intellectual disability, mild Feeding difficulties in infancy Myopathy Tremor Cerebellar hypoplasia Microdontia Cataract Pain Otitis media Heart block Telangiectasia Congestive heart failure Hypertension Poor suck Bundle branch block Anal stenosis Cellular immunodeficiency Depressivity Intrauterine growth retardation Anorectal anomaly Dementia Scaphocephaly Visual loss Cerebral ischemia Hyperthyroidism Nystagmus Multiple cafe-au-lait spots Multiple lipomas Vomiting Combined immunodeficiency Melanocytic nevus Cardiorespiratory arrest Goiter Transient ischemic attack Hypopigmented skin patches B-cell lymphoma Cardiomyopathy Macrotia Cerebellar atrophy Jaundice Chronic diarrhea Feeding difficulties Anxiety Abnormality of the vasculature Dilatation Prominent nose Nephropathy Seborrheic dermatitis Abnormal heart morphology Narrow mouth Retrognathia Hypoparathyroidism Nephrotic syndrome Atrioventricular block Chronic kidney disease Schizophrenia Hypocalcemia Stroke Exotropia Generalized tonic-clonic seizures Broad thumb Renal dysplasia Primary amenorrhea Coarctation of aorta Specific learning disability Bulbous nose Migraine Obesity Cachexia Focal segmental glomerulosclerosis Apnea Hydrocephalus Hypertonia Abnormality of the middle ear Glomerulopathy Low-set ears Ventricular septal defect Proteinuria Delayed speech and language development Strabismus Developmental regression Mental deterioration Cochlear malformation Spontaneous hematomas Homonymous hemianopia Abnormal platelet function Abnormal cochlea morphology Paralytic ileus Abnormal mitochondrial shape Gastroparesis Cochlear degeneration Progressive night blindness Gingival overgrowth Renal Fanconi syndrome Edema of the dorsum of hands Amaurosis fugax Abnormal mitochondrial morphology Paronychia Auditory hallucinations Abnormal macular morphology Hemeralopia Crohn's disease Abnormality of the cerebellar vermis Abnormal nerve conduction velocity Psychotic episodes Tubulointerstitial abnormality Spotty hypopigmentation Bilateral intracranial calcifications Abnormality of retinal pigmentation Gastrointestinal hemorrhage Clonus Ecchymosis Anisocytosis Cardiac arrest Prolonged bleeding time Petechiae Cerebral visual impairment Menorrhagia Truncal ataxia Increased mean platelet volume Epistaxis EMG abnormality Generalized hirsutism Abnormal bleeding Abnormality of acid-base homeostasis Hypogonadotrophic hypogonadism Type I diabetes mellitus Persistence of primary teeth Hallucinations Bruising susceptibility Myelofibrosis Anisopoikilocytosis Exercise intolerance Macular degeneration Prominent ear helix Morphological abnormality of the inner ear Morphological abnormality of the vestibule of the inner ear Abnormal thrombocyte morphology Episodic quadriplegia Leber optic atrophy Primary adrenal insufficiency Writer's cramp Personality changes Mask-like facies Bifid scrotum Aplasia/Hypoplasia of the cerebellum Neonatal hypoglycemia Intestinal obstruction Xerostomia Ophthalmoparesis Hemiplegia/hemiparesis Hyponatremia Abnormality of mitochondrial metabolism Aortic aneurysm Hemiplegia Bilateral ptosis Hypercalciuria Abnormality of visual evoked potentials Atopic dermatitis Mitochondrial myopathy Visual field defect Abnormality of immune system physiology Rhabdomyolysis Basal ganglia calcification Progressive sensorineural hearing impairment Vertebral fusion Prolonged QT interval Hyperkalemia Overlapping toe Dysphasia Distal arthrogryposis Vestibular dysfunction Aphasia Drowsiness Adrenal insufficiency Abnormal platelet aggregation Decreased nerve conduction velocity Progressive external ophthalmoplegia Muscle fiber atrophy Hemianopia Left ventricular failure Speech apraxia Retinal pigment epithelial atrophy Abnormality of peripheral nerve conduction Pulmonary embolism Ileus Abnormality of the renal tubule Reduced tendon reflexes Episodic vomiting Motor polyneuropathy External ophthalmoplegia Pancreatitis Dysesthesia Psychomotor deterioration Stroke-like episode Anterior hypopituitarism Posterior subcapsular cataract Easy fatigability Delusions Growth abnormality Facial diplegia Aortic dissection Renal tubular dysfunction Tubulointerstitial nephritis Visual hallucinations Ragged-red muscle fibers Increased CSF lactate Wolff-Parkinson-White syndrome Hyperkinesis Mutism Ischemic stroke Reduced consciousness/confusion Gait imbalance Proximal tubulopathy Third degree atrioventricular block Absence of alpha granules Decreased testicular size Stage 5 chronic kidney disease Abnormality of skin pigmentation Neutropenia Gliosis Brain atrophy Premature birth Waddling gait Lumbar hyperlordosis Corneal opacity Intellectual disability, profound Fine hair Abnormal lung morphology Abnormal form of the vertebral bodies Abnormality of epiphysis morphology Bone marrow hypocellularity Opacification of the corneal stroma Atherosclerosis Hip dislocation Scarring Azoospermia Pollakisuria Medulloblastoma Abnormality of chromosome stability Glioma Rhabdomyosarcoma Abnormal hair quantity Decrease in T cell count B lymphocytopenia T-cell lymphoma Hyperlordosis Recurrent infection of the gastrointestinal tract Penoscrotal hypospadias Dysgammaglobulinemia Malar prominence Mastoiditis Progressive vitiligo Osteopenia Thin upper lip vermilion Hyperlipidemia Reduced bone mineral density Recurrent bronchitis Abnormal immunoglobulin level Mucopolysacchariduria Multiple lentigines Steroid-resistant nephrotic syndrome Shallow acetabular fossae Increased thyroid-stimulating hormone level Encephalomalacia Abnormal T cell morphology Moyamoya phenomenon Arteriosclerosis Premature arteriosclerosis Anterior pituitary dysgenesis Nephrosclerosis Lateral displacement of the femoral head Focal-onset seizure Cortical dysplasia Focal cortical dysplasia Esotropia Hypoplasia of the capital femoral epiphysis Right ventricular cardiomyopathy Coarse hair Hypermelanotic macule Encephalitis Glomerulosclerosis Epiphyseal dysplasia Glomerulonephritis Nephritis Spondyloepiphyseal dysplasia Emphysema High pitched voice Steatorrhea Dentinogenesis imperfecta Protuberant abdomen Thoracic kyphosis Ovoid vertebral bodies Disproportionate short-trunk short stature Lymphoproliferative disorder Villous atrophy Precocious atherosclerosis Subvalvular aortic stenosis Recurrent sinopulmonary infections Abnormal eyelid morphology Reduced prothrombin consumption Hypoplastic iliac wing Disproportionate short stature Metaphyseal dysplasia Turricephaly Cone-shaped epiphyses of the phalanges of the hand Delayed epiphyseal ossification Hyperphosphatemia Flat acetabular roof Myocarditis Cortical gyral simplification 11 pairs of ribs Flared iliac wings Spondylometaphyseal dysplasia Metaphyseal chondrodysplasia Metaphyseal cupping Porencephalic cyst Coronal cleft vertebrae Narrow greater sacrosciatic notches Short finger Thoracic hypoplasia Cupped ribs Short phalanx of finger Talipes equinovarus Agenesis of corpus callosum Narrow chest Short palm Short metacarpal Limb undergrowth Abnormality of the ribs Pachygyria Rhizomelia Metaphyseal irregularity Short toe Short ribs Accelerated skeletal maturation Lissencephaly Short long bone Systemic lupus erythematosus Redundant skin Cone-shaped epiphysis Left ventricular hypertrophy Pulmonary hemorrhage Acute leukemia Recurrent pneumonia Choanal atresia Abnormality of the face Recurrent urinary tract infections Bronchiectasis Sinusitis Abnormality of the hair Low anterior hairline Deep philtrum Sloping forehead Premature ovarian insufficiency Non-midline cleft lip Long nose Freckling Abnormality of the musculature Neuroblastoma Acute lymphoblastic leukemia Hearing abnormality Cutaneous photosensitivity Convex nasal ridge Long fibula Irregular tarsal bones Myocardial necrosis Large posterior fontanelle Abnormality of the scapula Rhizomelic arm shortening Cone-shaped metacarpal epiphyses Iliac crest serration Focal lissencephaly Widened sacrosciatic notch Horizontal inferior border of scapula Neurodegeneration 11 thoracic vertebrae Recurrent respiratory infections Upslanted palpebral fissure Hyperactivity Abnormality of the nervous system Prominent nasal bridge Small for gestational age Cleft upper lip Anorexia Elevated serum creatine phosphokinase Decreased body weight Hydrocele testis Renal cell carcinoma Lipoma Papilledema Prolactin excess Skin tags Megalencephaly Meningioma Arteriovenous malformation Ovarian neoplasm Furrowed tongue Abnormality of the uterus Astrocytoma Ovarian cyst Intestinal polyposis Bone cyst Long penis Hodgkin lymphoma Hamartoma Enlarged polycystic ovaries Incoordination Cranial nerve paralysis Drooling Hemangioma Increased intracranial pressure Melanoma Breast carcinoma Palmoplantar hyperkeratosis Dysdiadochokinesis Acute myeloid leukemia Intracranial hemorrhage Hand polydactyly Cutis marmorata Macule Abnormality of the thyroid gland Cystic hygroma Cellulitis Cavernous hemangioma Papilloma Gynecomastia Conjunctival hamartoma Transitional cell carcinoma of the bladder Neoplasm of the thyroid gland Fibroadenoma of the breast Cutis marmorata telangiectatica congenita Enlarged cerebellum Trichilemmoma Dysplastic gangliocytoma of the cerebellum Ductal carcinoma in situ Mucosal telangiectasiae Merkel cell skin cancer Multiple trichilemmomata Lobular carcinoma in situ Cryptorchidism Epicanthus Wide nasal bridge Abnormality of the skeletal system Acrokeratosis Pseudopapilledema Hamartomatous polyposis Abnormality of the penis Fibroma Generalized hyperkeratosis Neoplasm of the central nervous system Decreased proportion of CD4-positive T cells Adenoma sebaceum Colonic diverticula Subcutaneous lipoma Angioid streaks of the fundus Progressive macrocephaly Ovarian carcinoma Intestinal polyp Thyroid adenoma Varicocele Follicular thyroid carcinoma Endometrial carcinoma Colorectal polyposis Neoplasm of the skin Subcutaneous nodule Clinodactyly Cholelithiasis Low posterior hairline Short palpebral fissure Amblyopia Spina bifida Bicuspid aortic valve Arnold-Chiari malformation Nasal speech Rheumatoid arthritis Renal agenesis Psoriasiform dermatitis Unilateral renal agenesis Acne Inflammation of the large intestine Posterior embryotoxon Bipolar affective disorder Meningocele Tetralogy of Fallot Chorea Truncus arteriosus Arthritis Flexion contracture Hypoplasia of the corpus callosum Behavioral abnormality Microphthalmia Abnormality of cardiovascular system morphology Inguinal hernia Umbilical hernia Telecanthus Bifid uvula Cleft lip Craniosynostosis Blepharophimosis Short philtrum Microtia Iris coloboma High, narrow palate Sclerocornea Myelomeningocele Intention tremor Frontal bossing Sacral meningocele Decreased circulating parathyroid hormone level Parathyroid hypoplasia Parathyroid agenesis Type I truncus arteriosus Macrocephaly Downslanted palpebral fissures Pectus excavatum Esophoria Proximal muscle weakness Carcinoma Papule Palmoplantar keratoderma Hypoplasia of the maxilla Macroglossia Overgrowth Accommodative esotropia Right aortic arch with mirror image branching Tetany Femoral hernia Juvenile rheumatoid arthritis Anterior segment developmental abnormality Hypoplasia of the thymus Aplasia of the uterus Graves disease Interrupted aortic arch Perimembranous ventricular septal defect Alcoholism Arteria lusoria Right aortic arch Impaired T cell function Duodenal stenosis Retinal vascular tortuosity Abnormality of the thymus Vascular tortuosity Conotruncal defect Aplasia of the thymus Hernia Severe short stature Involuntary movements Acidosis Hypogonadism Diabetes mellitus Abdominal pain Cerebral cortical atrophy Gait ataxia Weight loss Dyspnea Gastroesophageal reflux Myoclonus Photophobia EEG abnormality Myalgia Hypertrophic cardiomyopathy Erythema Abnormality of the liver Nyctalopia Osteoporosis Rod-cone dystrophy Dilated cardiomyopathy Dysphagia Peripheral neuropathy Hepatomegaly Hyperreflexia Dysarthria Optic atrophy Gait disturbance Fatigue Ventriculomegaly Constipation Respiratory distress Blindness Dystonia Cerebral atrophy Encephalopathy Areflexia Hyporeflexia Neurological speech impairment Pruritus Sensorineural hearing impairment Bilateral sensorineural hearing impairment Increased serum lactate Memory impairment Hip dysplasia Cerebral calcification Pigmentary retinopathy Abnormality of the cardiovascular system Generalized-onset seizure Type II diabetes mellitus Sudden cardiac death Pulmonary arterial hypertension Status epilepticus Psychosis Ventricular hypertrophy Atrial fibrillation Hemiparesis Hypertrichosis Sensory impairment Generalized myoclonic seizures Lethargy Confusion Arthrogryposis multiplex congenita Ophthalmoplegia Congenital cataract Carious teeth Delayed puberty Dysmetria Paresthesia Ichthyosis Muscle cramps Vertigo Peripheral axonal neuropathy Lactic acidosis Nausea Polyneuropathy Coma Postural instability Visual impairment Congenital mitral stenosis Micropenis Abnormality of the urinary system Abnormal vertebral morphology Sparse and thin eyebrow Increased body weight Congenital hip dislocation Horseshoe kidney Hyperbilirubinemia Abnormal dermatoglyphics Failure to thrive in infancy Recurrent otitis media Brittle hair Precocious puberty Cupped ear Bilateral cryptorchidism Preauricular pit Hydroureter Right bundle branch block Long eyelashes Small nail Long palpebral fissure Abnormal cardiac septum morphology Pes planus Hypoglycemia Joint laxity Postnatal growth retardation Respiratory tract infection Paralysis Coloboma Wide nose Blue sclerae Highly arched eyebrow Single transverse palmar crease Hypodontia Intestinal malrotation Dental malocclusion Growth hormone deficiency Congenital diaphragmatic hernia Celiac disease Severe hearing impairment Anoperineal fistula Sclerosing cholangitis Prominent fingertip pads Recurrent aspiration pneumonia Epibulbar dermoid Vertebral clefting Common atrium Crossed fused renal ectopia Single ventricle Liver abscess Bronchomalacia Prominent eyelashes Premature thelarche Eversion of lateral third of lower eyelids Short nasal septum Pilonidal sinus Vertical orbital dystopia Nocturnal lagophthalmos Biliary atresia Diaphragmatic eventration Transposition of the great arteries Short 5th finger Cerebellar vermis atrophy Congenital hypothyroidism IgA deficiency Overweight Patellar dislocation Short columella Depressed nasal tip Retinal coloboma Ureteropelvic junction obstruction Mitral stenosis Optic nerve coloboma Cholangitis Small face Broad philtrum Trichorrhexis nodosa Anterior plagiocephaly Recurrent ear infections Language impairment



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