Anemia, and Polymicrogyria

Diseases related with Anemia and Polymicrogyria

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


Top matches:

Low match SRD5A3-CDG


SRD5A3-CDG is a rare, non X-linked congenital disorder of glycosylation due to steroid 5 alpha reductase type 3 deficiency characterized by a highly variable phenotype typically presenting with severe visual impairment, variable ocular anomalies (such as optic nerve hypoplasia/atrophy, iris and optic nerve coloboma, congenital cataract, glaucoma), intellectual disability, cerebellar abnormalities, nystagmus, hypotonia, ataxia, and/or ichthyosiform skin lesions. Other reported manifestations include retinitis pigmentosa, kyphosis, congenital heart defects, hypertrichosis and abnormal coagulation.

SRD5A3-CDG Is also known as cdg1q|coloboma, ocular, with ichthyosis, brain malformations, and endocrine abnormalities|congenital disorder of glycosylation type iq|cdg-iq|congenital disorder of glycosylation type 1q|cdg syndrome type iq|cdg iq|cdgiq

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about SRD5A3-CDG

Low match FAMILIAL PORENCEPHALY


Porencephaly is a term used for any cavitation or cerebrospinal fluid-filled cyst in the brain. One form, called encephaloclastic, or type 1, porencephaly, is usually unilateral and results from focal destructive lesions such as fetal vascular occlusion or birth trauma. Another form, called schizencephalic, or type 2, porencephaly, is usually symmetric and represents a primary defect or arrest in the development of the cerebral ventricles. Encephaloclastic porencephaly is more common (Airaksinen, 1984; Sensi et al., 1990). Genetic Heterogeneity of PorencephalySee also POREN2 (OMIM ), caused by mutation in the COL4A2 gene (OMIM ).

FAMILIAL PORENCEPHALY Is also known as t1p|porencephaly, type 1, autosomal dominant|adt1p|hemiplegia, infantile, with porencephaly porencephaly, type 1

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Strabismus
  • Cataract


SOURCES: OMIM ORPHANET MENDELIAN

More info about FAMILIAL PORENCEPHALY

Low match CONGENITAL INTRAUTERINE INFECTION-LIKE SYNDROME


Congenital intrauterine infection-like syndrome is characterised by the presence of microcephaly and intracranial calcifications at birth accompanied by neurological delay, seizures and a clinical course similar to that seen in patients after intrauterine infection with Toxoplasma gondii, Rubella, Cytomegalovirus, Herpes simplex (so-called TORCH syndrome), or other agents, despite repeated tests revealing the absence of any known infectious agent.

CONGENITAL INTRAUTERINE INFECTION-LIKE SYNDROME Is also known as baraitser-reardon syndrome|bilateral band-like calcification with polymicrogyria|blc-pmg|blcpmg|band-like calcification with simplified gyration and polymicrogyria|microcephaly-intracranial calcification-intellectual disability syndrome|pseudo-torch syndr

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about CONGENITAL INTRAUTERINE INFECTION-LIKE SYNDROME

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Other less relevant matches:

Low match AARSKOG-SCOTT SYNDROME; AAS


Aarskog-Scott syndrome, also known as faciogenital dysplasia, is an X-linked disorder characterized by short stature, hypertelorism, shawl scrotum, and brachydactyly, although there is wide phenotypic variability and other features, such as joint hyperextensibility, short nose, widow's peak, and inguinal hernia, may also occur. Most patients do not have mental retardation, but some may have neurobehavioral features. Carrier females may present with subtle features, such as widow's peak or short stature (summary by Orrico et al., 2010).

AARSKOG-SCOTT SYNDROME; AAS Is also known as aarskog syndrome, x-linked|faciodigitogenital syndrome|fgdy|faciogenital dysplasia

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about AARSKOG-SCOTT SYNDROME; AAS

Low match BALLER-GEROLD SYNDROME


Baller-Gerold syndrome is characterized by the association of coronal craniosynostosis with radial ray anomalies (oligodactyly, aplasia or hypoplasia of the thumb, aplasia or hypoplasia of the radius).

BALLER-GEROLD SYNDROME Is also known as craniosynostosis-radial aplasia syndrome|craniosynostosis with radial defects

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Hearing impairment
  • Scoliosis


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about BALLER-GEROLD SYNDROME

Low match BLOOD GROUP, SS; SS


Ss blood group antigens reside on the red-cell glycoprotein GYPB. The S and s antigens result from a polymorphism at amino acid 29 of GYPB, where S has met29 and s has thr29. The U antigen refers to a short extracellular sequence in GYPB located near the membrane. GYPB, glycophorin A (GYPA ), and glycophorin E (GYPE ) are closely linked on chromosome 4q31. Antigens of the MN blood group (OMIM ) reside on GYPA. The M and N antigens differ at amino acids 1 and 5 of GYPA, where M is ser-ser-thr-thr-gly, and N is leu-ser-thr-thr-glu. The N terminus of GYPB is essentially identical to that of GYPA except that it always expresses the N antigen, denoted 'N' or N-prime. Recombination and gene conversion between GYPA, GYPB, and GYPE lead to hybrid glycophorin molecules and generation of low-incidence antigens. Thus, the MN and Ss blood groups are together referred to as the MNSs blood group system (see {111300}). Recombination results in 3 glycophorin-null phenotypes: En(a-) cells lack GYPA due to recombination between GYPA and GYPB; GYPB-negative (S-s-U-) cells lack GYPB due to recombination in GYPB; and M(k) cells (M-N-S-s-U-) lack both GYPA and GYPB due to recombination between GYPA and GYPE. Individuals with glycophorin-null phenotypes have decreased sialic acid content and increased resistance to malarial infection (see {611162}). GYPA and GYPB are not essential for red-cell development or survival, and GYPA- and GYPB-null phenotypes are not associated with anemia or altered red-cell function (review by Cooling, 2015).

BLOOD GROUP, SS; SS Is also known as ss blood group

Related symptoms:

  • Neoplasm
  • Anemia


SOURCES: OMIM MENDELIAN

More info about BLOOD GROUP, SS; SS

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 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

Low match MICROCEPHALY 16, PRIMARY, AUTOSOMAL RECESSIVE; MCPH16


Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Microcephaly
  • Micrognathia


SOURCES: OMIM MENDELIAN

More info about MICROCEPHALY 16, PRIMARY, AUTOSOMAL RECESSIVE; MCPH16

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

Top 5 symptoms//phenotypes associated to Anemia and Polymicrogyria

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
Hypertelorism Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Hearing impairment Ptosis Micrognathia Abnormal heart morphology Microcephaly Strabismus Scoliosis Cleft palate High palate Failure to thrive Growth delay Hypertonia Ventricular septal defect Purpura Nystagmus Abnormal facial shape Abnormality of the pinna Hypothyroidism Hydronephrosis Thrombocytopenia Cerebellar hypoplasia Abnormality of the kidney Visual loss Hemolytic anemia Obesity Renal insufficiency Behavioral abnormality Depressivity Cerebellar atrophy Malabsorption Anal atresia Fever Hepatomegaly Jaundice Ventriculomegaly Hydrocephalus Renal dysplasia Generalized hypotonia Cryptorchidism Low-set ears Flexion contracture Generalized tonic-clonic seizures Vitiligo Attention deficit hyperactivity disorder Motor delay Cataract Spasticity Cognitive impairment Short neck

Rare Symptoms - Less than 30% cases


Joint laxity Hirsutism Delayed puberty Hashimoto thyroiditis Joint hypermobility Thyroiditis Kyphosis Pes planus Umbilical hernia Abdominal pain Inguinal hernia Clinodactyly Hernia Hypodontia Short nose Intellectual disability, mild Downslanted palpebral fissures Wide nasal bridge Brachydactyly Hypertension Pain Single transverse palmar crease Narrow mouth Generalized-onset seizure Autoimmune thrombocytopenia Astigmatism Specific learning disability Amenorrhea Protruding ear Coarctation of aorta Feeding difficulties in infancy Schizophrenia Autoimmune hemolytic anemia Hypoparathyroidism Telecanthus Anxiety Seborrheic dermatitis Decreased body weight Abnormality of the middle ear Congestive heart failure Muscular hypotonia Feeding difficulties Diarrhea Autoimmunity Posteriorly rotated ears Short 5th finger Abnormal cardiac septum morphology Broad philtrum Epicanthus Myopia Optic atrophy Abnormality of the skeletal system Abnormality of cardiovascular system morphology Abnormality of the dentition Craniosynostosis Bifid uvula Patent ductus arteriosus Prominent nose Cerebral visual impairment Failure to thrive in infancy Anterior plagiocephaly Neoplasm Atrial septal defect Immunodeficiency Recurrent infections Abnormal vertebral morphology Agenesis of corpus callosum Bundle branch block Stroke-like episode Microphthalmia Hemiplegia Cardiomyopathy Anteverted nares Hyperreflexia Visual impairment Ischemic stroke Elevated serum creatine phosphokinase Elevated hepatic transaminase Micropenis Visual field defect Drooling Coloboma Ichthyosis Dilatation Hemianopia Dystonia Dysarthria Abnormality of skin pigmentation Cerebral cortical atrophy Stroke Hypertrichosis Transient ischemic attack Status epilepticus Dysphasia Posterior embryotoxon Exotropia Hemiparesis Cerebral calcification Tetraparesis Brachycephaly Tetraplegia Sloping forehead Abnormality of the liver Congenital cataract Muscle cramps Skin rash Hypertrophic cardiomyopathy Vomiting Delayed skeletal maturation Hyporeflexia Paronychia Fatigue Areflexia Dysphagia Arrhythmia Respiratory insufficiency Encephalopathy Edema of the dorsum of hands Myopathy Cochlear degeneration Progressive night blindness Cerebral atrophy Respiratory distress Constipation Headache Abnormal mitochondrial morphology Blindness Cochlear malformation Autism Rod-cone dystrophy Myalgia Pruritus Dilated cardiomyopathy Neurological speech impairment Nyctalopia Erythema Developmental regression Mental deterioration Abnormality of the cerebellar vermis Crohn's disease Hemeralopia Apnea Proteinuria Abnormal macular morphology Dementia EEG abnormality Spotty hypopigmentation Photophobia Gastroesophageal reflux Acidosis Dyspnea Weight loss Gait ataxia Diabetes mellitus Hypogonadism Osteoporosis Myoclonus Gait disturbance Paralytic ileus Tremor Retinal coloboma Epibulbar dermoid Recurrent aspiration pneumonia Prominent fingertip pads Biliary atresia Bronchomalacia Diaphragmatic eventration Morphological abnormality of the vestibule of the inner ear Ureteropelvic junction obstruction Recurrent ear infections Trichorrhexis nodosa Small face Cholangitis Optic nerve coloboma Mitral stenosis Depressed nasal tip Common atrium Short columella Patellar dislocation Scaphocephaly Overweight Anal stenosis IgA deficiency Morphological abnormality of the inner ear Congenital hypothyroidism Cerebellar vermis atrophy Transposition of the great arteries Severe hearing impairment Long palpebral fissure Celiac disease Right bundle branch block Vertebral clefting Anorectal anomaly Abnormal mitochondrial shape Homonymous hemianopia Skeletal muscle atrophy Peripheral neuropathy Muscle weakness Sensorineural hearing impairment Ataxia Muscle fibrillation Cortical gyral simplification Adducted thumb Knee flexion contracture Arthrogryposis multiplex congenita Open mouth Spastic tetraplegia Glaucoma Abnormal cochlea morphology Congenital mitral stenosis Crossed fused renal ectopia Anoperineal fistula Nocturnal lagophthalmos Vertical orbital dystopia Pilonidal sinus Short nasal septum Eversion of lateral third of lower eyelids Premature thelarche Prominent eyelashes Liver abscess Sclerosing cholangitis Single ventricle Abnormality of acid-base homeostasis Episodic quadriplegia Bilateral intracranial calcifications Lethargy Visual hallucinations Ophthalmoplegia Abnormality of neuronal migration Rhabdomyolysis Hyperthyroidism Psychomotor deterioration Basal ganglia calcification Glomerulopathy Progressive sensorineural hearing impairment Vertebral fusion Multiple lipomas Prolonged QT interval Hyperkalemia Vestibular dysfunction Aphasia Adrenal insufficiency Overlapping toe Muscle fiber atrophy Abnormality of immune system physiology Focal segmental glomerulosclerosis Hemiplegia/hemiparesis Mask-like facies Bifid scrotum Aplasia/Hypoplasia of the cerebellum Intestinal obstruction Personality changes Ophthalmoparesis Hyponatremia Abnormality of mitochondrial metabolism Writer's cramp Persistence of primary teeth Aortic aneurysm Bilateral ptosis Dysesthesia Primary adrenal insufficiency Hydroureter Speech apraxia Increased CSF lactate Renal tubular dysfunction Aortic dissection Facial diplegia Cardiorespiratory arrest Delusions Posterior subcapsular cataract Progressive external ophthalmoplegia Wolff-Parkinson-White syndrome Cerebral ischemia Reduced consciousness/confusion Gait imbalance Anterior hypopituitarism Left ventricular failure Mitochondrial myopathy Motor polyneuropathy Retinal pigment epithelial atrophy Abnormality of peripheral nerve conduction Heart block Proximal tubulopathy Xerostomia Neonatal hypoglycemia Ileus Abnormality of visual evoked potentials Abnormality of the renal tubule Atopic dermatitis Drowsiness Episodic vomiting Distal arthrogryposis Pulmonary embolism Leber optic atrophy Hypercalciuria Carious teeth Sudden cardiac death Atrial fibrillation Ventricular hypertrophy Psychosis Pulmonary arterial hypertension Type II diabetes mellitus Nephrotic syndrome Bilateral sensorineural hearing impairment Abnormality of the cardiovascular system Pigmentary retinopathy Hip dysplasia Memory impairment Increased serum lactate Migraine Sensory impairment Generalized myoclonic seizures Left ventricular hypertrophy Psychotic episodes Abnormal cerebellum morphology Postural instability Tubulointerstitial nephritis Polyneuropathy Nephropathy Nausea Lactic acidosis Peripheral axonal neuropathy Vertigo Confusion Paresthesia Dysmetria Nausea and vomiting Involuntary movements Anorexia Spontaneous hematomas Hypopigmented skin patches Decreased nerve conduction velocity Cachexia Gastroparesis Atrioventricular block Amaurosis fugax Auditory hallucinations Chronic kidney disease Growth abnormality Easy fatigability Abnormal nerve conduction velocity Renal Fanconi syndrome Hyperkinesis Goiter Mutism Ragged-red muscle fibers Gingival overgrowth Generalized hirsutism Abnormality of retinal pigmentation Hallucinations Clonus Cardiac arrest Truncal ataxia EMG abnormality Tubulointerstitial abnormality Reduced tendon reflexes Hypogonadotrophic hypogonadism Type I diabetes mellitus Exercise intolerance Macular degeneration Pancreatitis External ophthalmoplegia Coma Meningocele Preauricular pit Broad foot Frontal bossing Intrauterine growth retardation Cervical spine hypermobility Curved linear dimple below the lower lip Increased upper to lower segment ratio Prominent umbilicus Frontoparietal polymicrogyria Osteochondritis Dissecans Hyperextensibility of the finger joints Volvulus Large earlobe Widow's peak Genu recurvatum Hypoplasia of the odontoid process Proptosis Shawl scrotum Macrocytic anemia Broad palm Interstitial pulmonary abnormality Mild short stature Radial deviation of finger Increased intracranial pressure Lymphedema Abnormality of the genital system Round face Hypoplasia of the maxilla Short foot Short palm Cirrhosis Prominent forehead Conductive hearing impairment Pulmonic stenosis Trigonocephaly Abnormality of the ureter Aplasia/Hypoplasia of the radius Fibular hypoplasia Absent radius Oligodactyly Short humerus Aplasia/Hypoplasia of the thumb Anteriorly placed anus Narrow nasal bridge Absent thumb Hallux valgus Hypoplasia of the ulna Tracheoesophageal fistula Hypoplasia of the radius Low-set, posteriorly rotated ears Abnormality of the metacarpal bones Spina bifida occulta Narrow face Short thumb Large fontanelles Bowing of the long bones Pancytopenia Hypotelorism Underdeveloped nasal alae Lymphoma Vesicoureteral reflux Facial asymmetry Broad forehead Prominent nasal bridge Cleft upper lip Hypermetropia Shallow orbits Babinski sign Hypoplasia of the iris Restlessness Limb dystonia Opisthotonus Cortical dysplasia Cerebral hemorrhage Intracranial hemorrhage Cerebral palsy Leukoencephalopathy Mitral valve prolapse Renal cyst Hematuria Abnormal pyramidal sign Reduced antithrombin III activity Nuclear cataract Anterior pituitary hypoplasia Type I transferrin isoform profile Microcytic anemia Abnormality of coagulation Erythroderma Optic nerve hypoplasia Oligodontia Cutis laxa Inflammatory abnormality of the skin Cerebellar vermis hypoplasia Eczema Palmoplantar keratoderma Hyperkeratosis Depressed nasal bridge Facial paralysis Porencephalic cyst Camptodactyly Pachygyria Hyperactivity Alopecia Pectus excavatum Syndactyly Congenital microcephaly Increased CSF protein Petechiae Lissencephaly Spastic tetraparesis Microretrognathia Opacification of the corneal stroma Decreased liver function Postnatal microcephaly Intellectual disability, profound Primitive reflex Neuronal loss in central nervous system Gliosis Abnormality of movement Corneal opacity Muscular hypotonia of the trunk Hepatosplenomegaly Long philtrum Splenomegaly Intellectual disability, severe Antenatal intracerebral hemorrhage Spastic hemiparesis Perivascular spaces Schizencephaly Pontocerebellar atrophy Carpal synostosis Coronal craniosynostosis Bilateral cryptorchidism Vascular tortuosity Pneumonia Hypospadias Type I truncus arteriosus Parathyroid agenesis Parathyroid hypoplasia Decreased circulating parathyroid hormone level Sacral meningocele Accommodative esotropia Esophoria Right aortic arch with mirror image branching Arteria lusoria Aplasia of the thymus Conotruncal defect Abnormality of the thymus Macrotia Retinal vascular tortuosity Duodenal stenosis Perisylvian polymicrogyria Impaired T cell function Right aortic arch Alcoholism Femoral hernia Perimembranous ventricular septal defect Interrupted aortic arch Graves disease Aplasia of the uterus Hypoplasia of the thymus Anterior segment developmental abnormality Juvenile rheumatoid arthritis Severe short stature Hypoglycemia Myelomeningocele Heterotopia Cupped ear Precocious puberty Brittle hair Poor suck Abnormality of the urinary system Abnormal dermatoglyphics Hyperbilirubinemia Horseshoe kidney Congenital hip dislocation Increased body weight Sparse and thin eyebrow Cafe-au-lait spot Long eyelashes Recurrent otitis media Intellectual disability, moderate Small nail Blue sclerae Congenital diaphragmatic hernia Microdontia Otitis media Growth hormone deficiency Decreased antibody level in blood Dental malocclusion Intestinal malrotation Highly arched eyebrow Wide nose Paralysis Respiratory tract infection Postnatal growth retardation Tetany Truncus arteriosus Chromosome breakage Brachyturricephaly Anomalous splenoportal venous system Midface capillary hemangioma Carpal bone aplasia Persistent cloaca Limited shoulder movement Perineal fistula Bicoronal synostosis Aplasia of metacarpal bones Bilateral radial aplasia Flat forehead Urogenital fistula Abnormality of the carpal bones Metopic synostosis Ulnar bowing Unilateral radial aplasia Aplasia/Hypoplasia of the patella Lambdoidal craniosynostosis Limited elbow movement Hand oligodactyly Patellar hypoplasia Oxycephaly Abnormal localization of kidney Sagittal craniosynostosis Bilateral conductive hearing impairment Rib fusion Poikiloderma Rectovaginal fistula Osteosarcoma Choanal stenosis Aphalangy of the hands Delayed speech and language development Sclerocornea Broad thumb Bipolar affective disorder Inflammation of the large intestine Acne Unilateral renal agenesis Psoriasiform dermatitis Rheumatoid arthritis Cholelithiasis Nasal speech Arnold-Chiari malformation Bicuspid aortic valve Hypocalcemia Spina bifida Amblyopia Primary amenorrhea Hypoplasia of the corpus callosum Short palpebral fissure Low posterior hairline Tetralogy of Fallot Renal agenesis Chorea High, narrow palate Iris coloboma Bulbous nose Microtia Short philtrum Blepharophimosis Cleft lip Arthritis Retrognathia Prominent ear helix



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Brachydactyly and Hypothyroidism, related diseases and genetic alterations Low-set ears and Narrow forehead, related diseases and genetic alterations Obesity and Encephalocele, related diseases and genetic alterations Flexion contracture and Abnormality of metabolism/homeostasis, related diseases and genetic alterations Peripheral neuropathy and Short neck, related diseases and genetic alterations Anemia and Peripheral neuropathy, related diseases and genetic alterations

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