Cataract, and Open mouth

Diseases related with Cataract and Open mouth

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


Top matches:

Low match MONOSOMY 13Q14


Monosomy 13q14 is a rare chromosomal anomaly syndrome, resulting from a partial deletion of the long arm of chromosome 13, characterized by developmental delay, variable degrees of intellectual disability, retinoblastoma and craniofacial dysmorphism (incl. micro/dolichocephaly, high and broad forehead, prominent eyebrows, thick, anteverted ear lobes, short nose with a broad nasal bridge and bulbous tip, prominent philtrum, large mouth with thin upper lip and thick, everted lower lip). Other features reported include high birth weight, macrocephaly, pinealoma, hepatomegaly, inguinal hernia and cryptorchidism.

MONOSOMY 13Q14 Is also known as del(13)(q14)|chromosome 13q deletion syndrome|deletion 13q14

Related symptoms:

  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Microcephaly


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about MONOSOMY 13Q14

Low match VICI SYNDROME


Vici syndrome is a very rare and severe congenital multisystem disorder characterized by the principal features of agenesis of the corpus callosum, cataracts, oculocutaneous hypopigmentation, cardiomyopathy and combined immunodeficiency.

VICI SYNDROME Is also known as immunodeficiency with cleft lip/palate, cataract, hypopigmentation, and absent corpus callosum|corpus callosum agenesis-cataract-immunodeficiency syndrome|dionisi-vici-sabetta-gambarara syndrome

Related symptoms:

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


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about VICI SYNDROME

Low match 17Q21.31 MICRODELETION SYNDROME


Koolen-De Vries syndrome is characterized by moderate to severe intellectual disability, hypotonia, friendly demeanor, and highly distinctive facial features, including tall, broad forehead, long face, upslanting palpebral fissures, epicanthal folds, tubular nose with bulbous nasal tip, and large ears. More variable features include cardiac or genitourinary anomalies and seizures (summary by Koolen et al., 2012).

17Q21.31 MICRODELETION SYNDROME Is also known as del(17)(q21.31)|monosomy 17q21.31|chromosome 17q21.31 deletion syndrome|microdeletion 17q21.31 syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about 17Q21.31 MICRODELETION SYNDROME

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Other less relevant matches:

Low match X-LINKED INTELLECTUAL DISABILITY, NAJM TYPE


Najm type X-linked intellectual deficit is a rare cerebellar dysgenesis syndrome characterized by variable clinical manifestations ranging from mild intellectual deficit with or without congenital nystagmus, to severe cognitive impairment associated with cerebellar and pontine hypoplasia/atrophy and abnormalities of cortical development.

X-LINKED INTELLECTUAL DISABILITY, NAJM TYPE Is also known as fgs1|keller syndrome|fg syndrome|fgs|x-linked intellectual disability-microcephaly-pontocerebellar hypoplasia syndrome|mental retardation, large head, imperforate anus, congenital hypotonia, and partial agenesis of corpus callosum|fg syndrome 1|micpch

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about X-LINKED INTELLECTUAL DISABILITY, NAJM TYPE

Low match DOWN SYNDROME


Down syndrome is a chromosomal abnormality caused by the presence of a third (partial or total) copy of chromosome 21 and that is characterized by variable intellectual disability, muscular hypotonia, and joint laxity, often associated with a characteristic facial dysmorphism and various anomalies such as cardiac, gastrointestinal, or endocrine defects.

DOWN SYNDROME Is also known as trisomy 21

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Hearing impairment


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about DOWN SYNDROME

Low match VELOCARDIOFACIAL SYNDROME


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

Low match COFFIN-LOWRY SYNDROME


Coffin-Lowry syndrome (CLS) is a rare genetic neurological disorder characterized by psychomotor and growth retardation, facial dysmorphism, digit abnormalities, and progressive skeletal changes.

COFFIN-LOWRY SYNDROME Is also known as cls

Related symptoms:

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


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about COFFIN-LOWRY SYNDROME

Low match OSTEOPATHIA STRIATA-CRANIAL SCLEROSIS SYNDROME


Osteopathia striata with cranial sclerosis (OS-CS) is a bone dysplasia characterized by longitudinal striations of the metaphyses of the long bones, sclerosis of the craniofacial bones, macrocephaly, cleft palate and hearing loss.

OSTEOPATHIA STRIATA-CRANIAL SCLEROSIS SYNDROME Is also known as hyperostosis generalisata with striations|robinow-unger syndrome

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about OSTEOPATHIA STRIATA-CRANIAL SCLEROSIS SYNDROME

Low match PROTEUS SYNDROME


Proteus syndrome (PS) is a very rare and complex hamartomatous overgrowth disorder characterized by progressive overgrowth of the skeleton, skin, adipose, and central nervous systems.

PROTEUS SYNDROME Is also known as partial gigantism-nevi-hemihypertrophy-macrocephaly syndrome|gigantism, partial, of hands and feet, nevi, hemihypertrophy, and macrocephaly

Related symptoms:

  • Intellectual disability
  • Seizures
  • Scoliosis
  • Hypertelorism
  • Nystagmus


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about PROTEUS SYNDROME

Low match OCULOCEREBRORENAL SYNDROME OF LOWE


Oculocerebrorenal syndrome of Lowe (OCRL) is a multisystem disorder characterized by congenital cataracts, glaucoma, intellectual disabilities, postnatal growth retardation and renal tubular dysfunction with chronic renal failure.

OCULOCEREBRORENAL SYNDROME OF LOWE Is also known as oculocerebrorenal dystrophy|phosphatidylinositol 4,5-biphosphate 5-phosphatase deficiency|oculo-cerebro-renal dystrophy|oculo-cerebro-renal syndrome|lowe disease|ocrl1|ocrl|ocr|lowe syndrome|phosphatidylinositol 4,5-bisphosphate 5-phosphatase deficiency|l

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about OCULOCEREBRORENAL SYNDROME OF LOWE

Top 5 symptoms//phenotypes associated to Cataract and Open mouth

Symptoms // Phenotype % cases
Intellectual disability Very Common - Between 80% and 100% cases
Generalized hypotonia Very Common - Between 80% and 100% cases
Short stature Very Common - Between 80% and 100% cases
Hearing impairment Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Cataract and Open mouth. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases


Seizures

Uncommon Symptoms - Between 30% and 50% cases


Cognitive impairment

Common Symptoms - More than 50% cases


Epicanthus

Uncommon Symptoms - Between 30% and 50% cases


Scoliosis

Common Symptoms - More than 50% cases


Abnormality of cardiovascular system morphology

Uncommon Symptoms - Between 30% and 50% cases


Strabismus

Common Symptoms - More than 50% cases


Narrow palate

Uncommon Symptoms - Between 30% and 50% cases


Abnormal heart morphology

Common Symptoms - More than 50% cases


Long philtrum

Uncommon Symptoms - Between 30% and 50% cases


Hydrocephalus

Common Symptoms - More than 50% cases


Abnormal facial shape

Uncommon Symptoms - Between 30% and 50% cases


High palate

Common Symptoms - More than 50% cases


Microcephaly

Uncommon Symptoms - Between 30% and 50% cases


Hypertelorism Micrognathia Muscular hypotonia Ventriculomegaly Ptosis Depressed nasal bridge Low-set ears Cleft palate Failure to thrive Hypoplasia of the corpus callosum Short neck Ventricular septal defect Frontal bossing Motor delay Cleft upper lip Optic atrophy Anteverted nares Recurrent infections Hypospadias Abnormality of the skeletal system Nystagmus Cleft lip Delayed speech and language development Heterotopia Thick lower lip vermilion Anal atresia Umbilical hernia Inguinal hernia Macrocephaly Long face Intellectual disability, moderate Anxiety Conductive hearing impairment Macrotia Hypothyroidism Kyphosis Abnormality of the dentition Growth delay Downslanted palpebral fissures Feeding difficulties in infancy Hip dislocation Cryptorchidism Dolichocephaly Broad forehead Single transverse palmar crease Hydronephrosis Everted lower lip vermilion Clinodactyly of the 5th finger Protruding ear Intellectual disability, severe Thin vermilion border Dental crowding Aganglionic megacolon Cerebral cortical atrophy Aggressive behavior Abnormality of retinal pigmentation Joint contracture of the hand Wide mouth Gait disturbance Joint hypermobility Brachydactyly Nasal speech Pyloric stenosis Joint stiffness Severe global developmental delay Congenital cataract Myopia Anal stenosis Delayed closure of the anterior fontanelle Neoplasm Thick vermilion border High, narrow palate Bulbous nose Behavioral abnormality Dilatation Sensorineural hearing impairment Wide nasal bridge Gastroesophageal reflux Atrial septal defect Craniosynostosis Absent speech Depressivity Pectus excavatum Delayed eruption of teeth Upslanted palpebral fissure Holoprosencephaly Hyperactivity Wide anterior fontanel Anemia Immunodeficiency Posteriorly rotated ears Feeding difficulties Hypotelorism Webbed neck Constipation Clinodactyly Joint laxity Patent ductus arteriosus Syndactyly Thrombocytopenia High forehead

Rare Symptoms - Less than 30% cases


Carious teeth Prominent forehead Abnormality of the metaphysis Visual impairment Vesicoureteral reflux Keloids Buphthalmos Diabetes insipidus Reduced number of teeth Pes planus Abnormality of dental enamel Blepharophimosis Pulmonic stenosis Arachnodactyly Underdeveloped nasal alae Flexion contracture Wide intermamillary distance Subcutaneous nodule Widely spaced teeth Sacral dimple Bicuspid aortic valve Overfolded helix Impulsivity Abnormality of the sternum Prominent fingertip pads Narrow palpebral fissure Broad hallux Neonatal hypotonia Kyphoscoliosis Multicystic kidney dysplasia Dysphasia Schizophrenia Obsessive-compulsive behavior Submucous cleft hard palate Pierre-Robin sequence Echolalia Intellectual disability, mild Hyperostosis Mandibular prognathia Hyperlordosis Psychosis Joint hyperflexibility Flat occiput Abnormal vertebral morphology Dental malocclusion Abnormal form of the vertebral bodies Self-injurious behavior Thickened calvaria Spinal canal stenosis Thick nasal alae Pain Headache Spina bifida Bifid uvula Telecanthus Partial agenesis of the corpus callosum Camptodactyly Attention deficit hyperactivity disorder Glaucoma Downturned corners of mouth Intestinal malrotation Lumbar hyperlordosis Fine hair Facial hyperostosis Chorioretinal coloboma Skeletal dysplasia Anteriorly placed anus Mental deterioration Obesity Dementia Brachycephaly Microtia Asymmetry of the thorax Flat face Cholelithiasis Broad palm Duodenal stenosis Fever Retrognathia Specific learning disability Arthritis Hypertension Finger syndactyly Prominent nasal bridge Agenesis of corpus callosum Lymphopenia Cerebellar hypoplasia Aplasia/Hypoplasia of the corpus callosum Hypertonia Congestive heart failure Decreased body weight Renal tubular acidosis Abnormality of immune system physiology Severe sensorineural hearing impairment Cerebellar atrophy Thick eyebrow Myopathy Cardiomyopathy Recurrent respiratory infections Intrauterine growth retardation Deep philtrum Triangular face Hernia Dilated cardiomyopathy Polymicrogyria Thin upper lip vermilion Wide nose Neutropenia Short nose Cerebellar vermis hypoplasia Muscular hypotonia of the trunk Decreased antibody level in blood Narrow forehead EEG abnormality Coarse facial features Acidosis Respiratory failure Renal tubular dysfunction Microphthalmia Muscle weakness Spasticity Peripheral neuropathy Anteverted ears Polyhydramnios Hyperextensibility of the finger joints Abnormal diaphysis morphology Premature loss of primary teeth Rectal prolapse Hyperkeratosis Coloboma Narrow iliac wings Proptosis Carcinoma Advanced eruption of teeth Facial asymmetry Absent septum pellucidum Broad finger Abdominal pain Confusion Visual loss Splenomegaly Abnormal tricuspid valve morphology Paranasal sinus hypoplasia Straight clavicles Metaphyseal striations Osteopathia striata Hyperconvex fingernails Cataplexy High iliac wings Unilateral facial palsy Stooped posture Myelopathy Abnormality of skin pigmentation Pseudoepiphyses of the metacarpals Hypoplastic fingernail Melanocytic nevus Lipodystrophy Cachexia Growth abnormality Soft skin Palmoplantar hyperkeratosis Goiter Abnormality of the metacarpal bones Hemangioma Venous thrombosis Micropenis Acrocyanosis Generalized hirsutism Abnormality of the nail Sinusitis Renal cyst Lymphedema Thickened skin Restrictive cardiomyopathy Abnormal mitral valve morphology Epidermal acanthosis Craniofacial hyperostosis High myopia Overgrowth Round face Abnormal aortic valve morphology Nevus Gliosis Sudden cardiac death Abdominal distention Laryngeal web Laryngotracheomalacia Craniofacial osteosclerosis Spontaneous abortion Delayed cranial suture closure Iris coloboma Talipes equinovarus Finger clinodactyly Nephroblastoma Metaphyseal widening Increased susceptibility to fractures Trigonocephaly Mutism Cutaneous syndactyly Spina bifida occulta Osteolysis Microretrognathia Increased bone mineral density Aphasia Aortic valve stenosis Abnormal dermatoglyphics Large fontanelles Omphalocele Severe short stature Coarctation of aorta Oligohydramnios Cerebral calcification Abnormality of the skin Broad nasal tip Ophthalmoplegia Paralysis Apnea Facial palsy Supernumerary nipple Drumstick terminal phalanges Large iliac wings White forelock Patent foramen ovale Retinoschisis Alobar holoprosencephaly Broad clavicles Rough bone trabeculation Lumbar kyphosis Flexion contracture of toe Uterine prolapse Bifid sternum Sclerosis of skull base Thoracolumbar kyphosis Otosclerosis Fibular aplasia Facial paralysis Hypoplastic left heart Large forehead Thick nasal septum Abnormality of the nasal alae Decreased muscle mass Thoracic dysplasia Ectopic anus Misalignment of teeth Osteopetrosis Ankylosis Tracheomalacia Fibular hypoplasia Natal tooth Mixed hearing impairment Visual field defect Broad ribs Generalized hyperpigmentation Hallux valgus Hypokalemia Nephrocalcinosis Aminoaciduria Azoospermia Neoplasm of the skin Hypercholesterolemia Hypercalciuria Abnormality of the voice Clonus Rickets Glomerulonephritis Chronic otitis media Hyponatremia Open bite Hypophosphatemia Congenital glaucoma Skin ulcer Abnormality of epiphysis morphology Hyperparathyroidism Increased serum lactate Genu valgum Hematuria Metabolic acidosis Recurrent fractures Abnormal bleeding Full cheeks Aciduria Stereotypy Dehydration Abnormality of the ribs Sparse scalp hair Osteoarthritis Hypoplasia of dental enamel Nephrolithiasis Amblyopia Pathologic fracture Abnormal joint morphology Malabsorption Elevated amniotic fluid alpha-fetoprotein Oligosacchariduria Chorioretinal dysplasia Abnormality of calcium-phosphate metabolism Elevated serum acid phosphatase Benign neoplasm of the central nervous system Periventricular cysts Finger swelling Proximal renal tubular acidosis Odontogenic neoplasm Elevated maternal serum alpha-fetoprotein Bicarbonaturia Abnormality of dentin Lentiglobus Wrist swelling Hypoammonemia Vitamin D deficiency Urogenital fistula Glomerulopathy Periodontitis Osteomalacia Joint swelling Multiple renal cysts Patellar dislocation Atypical scarring of skin Gingivitis Hyperaldosteronism Taurodontia Renal Fanconi syndrome Generalized hypopigmentation Atelectasis Hyperphosphaturia Abnormal pupil morphology Lacrimation abnormality Abnormality of the renal tubule Cheilitis Delayed puberty Platyspondyly Disproportionate tall stature Anisocytosis Deep venous thrombosis Varicose veins Arteriovenous malformation Lower limb asymmetry Abnormality of the neck Hemihypertrophy Arterial thrombosis Macroorchidism Myofibrillar myopathy Thin bony cortex Long penis Visceral angiomatosis Enlarged polycystic ovaries Asymmetric growth Vascular skin abnormality Meningioma Abnormality of the wrist Generalized hyperkeratosis Pulmonary embolism Pericardial effusion Neurofibromas Multiple lipomas Multiple cafe-au-lait spots Hamartoma Ovarian neoplasm Atonic seizures Irregular hyperpigmentation Abnormality of finger Abnormal lung lobation Neoplasm of the lung Lipoma Exostoses Papilledema Capillary hemangioma Spinal cord compression Thrombophlebitis Neoplasm of the central nervous system Corneal opacity Renal insufficiency Connective tissue nevi Depigmentation/hyperpigmentation of skin Hypertrophy of skin of soles Mandibular hyperostosis Respiratory insufficiency Blindness Areflexia Neoplasm of the thymus Hyporeflexia Reduced visual acuity Deeply set eye Proteinuria Low-set, posteriorly rotated ears Irritability Camptodactyly of finger Central heterochromia Abnormal subcutaneous fat tissue distribution Venous malformation Calvarial hyperostosis Epibulbar dermoid Nephrogenic diabetes insipidus Upper limb asymmetry Testicular neoplasm Lymphangioma Epidermal nevus Metatarsus valgus Portal vein thrombosis Retinal nonattachment Macrodactyly Sirenomelia Narrow internal auditory canal Nevus sebaceous Thymus hyperplasia Retinal hamartoma Bronchogenic cyst Aplasia/Hypoplasia of the thumb Coxa valga Abnormality of the gastrointestinal tract Prominent nose Sparse hair Leukopenia Recurrent bacterial infections Unsteady gait Increased body weight Aspiration Progressive microcephaly Adducted thumb Decreased liver function Split hand Choanal atresia Pachygyria Broad thumb Left ventricular hypertrophy Infantile muscular hypotonia Poor suck Progressive neurologic deterioration Hypopigmentation of hair Abnormality of hair pigmentation Hypotrophy of the small hand muscles Depressed nasal tip Severe failure to thrive Aspiration pneumonia IgG deficiency Optic neuropathy Congenital sensorineural hearing impairment Centrally nucleated skeletal muscle fibers Bronchitis Macular atrophy Neurodevelopmental delay Combined immunodeficiency Albinism Rigidity Gynecomastia Plagiocephaly Broad chin Pulmonary hypoplasia Auricular pit Facial wrinkling Hypopigmentation of the skin Edema Malar flattening Sleep disturbance Polydactyly Microtia, first degree Narrow mouth Developmental regression Leukemia Hypotrichosis Short palm Postaxial polydactyly Postnatal macrocephaly Frontal upsweep of hair Optic nerve hypoplasia Ventricular hypertrophy Relative macrocephaly Congenital contracture Radial deviation of finger Bowing of the legs Multiple joint contractures High pitched voice Delayed myelination Abnormality of the nasopharynx Thoracic scoliosis Skin tags Megalencephaly Facial hypotonia Sepsis Gastrointestinal dysmotility Sagittal craniosynostosis Positional foot deformity Conspicuously happy disposition Macroglossia Dry skin Small for gestational age Hypermetropia Abnormality of the optic disc Abnormality of the foot Poor speech Recurrent aspiration pneumonia Oral cleft Scarring Decreased proportion of CD4-positive T cells Abnormality of the mandible Small hand Pontocerebellar atrophy Granulocytopenia Otitis media Abnormal cardiac septum morphology Abnormality of the thymus Abnormal posturing Aplasia/Hypoplasia of the macula Vomiting White matter neuronal heterotopia Severe T-cell immunodeficiency Penile hypospadias Immunoglobulin IgG2 deficiency Ureteral atresia Decreased T cell activation Pallor Cutaneous anergy Abnormal immunoglobulin level Frontoparietal polymicrogyria Schizencephaly Abnormal macular morphology Muscle flaccidity Abnormality of the cerebellar vermis Focal-onset seizure Hip dysplasia Pear-shaped nose Glioma Cortical dysplasia Long fingers Vertebral fusion Slender finger Prominent metopic ridge Spondylolisthesis Abnormality of hair texture Hypoplasia of the pons Abnormality of the head Chronic infection Ocular albinism Expressive language delay Multifocal epileptiform discharges Narrow palm Fair hair Sparse eyebrow Eczema Hypoplasia of the thymus Status epilepticus Abnormality of the genital system Recurrent fungal infections Joint dislocation Hypopigmentation of the fundus Cellular immunodeficiency Recurrent viral infections Elbow dislocation Abnormality of the genitourinary system Laryngomalacia Abnormality of the urinary system Abnormal cortical gyration Chronic mucocutaneous candidiasis Failure to thrive in infancy Aortic aneurysm Postural instability Microdontia Abnormality of digit Velopharyngeal insufficiency Mood swings Right aortic arch Impaired T cell function Paranoia Retinal vascular tortuosity Giant platelets Conotruncal defect Perimembranous ventricular septal defect Psychotic episodes Aplasia of the thymus Arteria lusoria Central nervous system degeneration Vascular ring Perineal fistula Platybasia Interrupted aortic arch Right aortic arch with mirror image branching Meningocele Autoimmune thrombocytopenia Posterior embryotoxon Bipolar affective disorder Vitiligo Hypoparathyroidism Hearing abnormality Delusions Graves disease Truncus arteriosus Myelomeningocele Abnormality of the endocrine system Pulmonary artery atresia Juvenile rheumatoid arthritis Seborrheic dermatitis Aplasia of the uterus Congenital conductive hearing impairment Sacral meningocele Autoimmune hemolytic anemia Abnormality of dental morphology Cutis laxa Sleep apnea Coarse hair Redundant skin Prominent supraorbital ridges Thickened helices Aplasia/Hypoplasia of the cerebellum Abnormality of the hair Large hands Cutis marmorata Abnormality of neuronal migration Emphysema Loss of consciousness Progressive spasticity Acute bronchitis Mitral regurgitation Unilateral lung agenesis Neurological speech impairment Unilateral primary pulmonary dysgenesis Skeletal muscle atrophy Respiratory distress Delayed skeletal maturation Hyperreflexia Pectus carinatum Short distal phalanx of finger Retinoblastoma Highly arched eyebrow Tapered finger Leukocoria Hypodontia Hypoplasia of the maxilla Tetraplegia Short metacarpal Axonal loss Basal ganglia calcification Type II diabetes mellitus Acute monocytic leukemia Thrombocytosis Acute lymphoblastic leukemia Thickened nuchal skin fold Double outlet right ventricle Hypoplastic iliac wing Senile plaques Hypoxemia Polycythemia Pulmonary edema Complete atrioventricular canal defect Short middle phalanx of the 5th finger Myeloproliferative disorder Abnormality of the lymphatic system Hypertrophic cardiomyopathy Protruding tongue Neurofibrillary tangles Abnormality of the fontanelles or cranial sutures Alzheimer disease Depressed nasal ridge Bilateral single transverse palmar creases Sandal gap Renal hypoplasia/aplasia Breast carcinoma Respiratory tract infection Hydroureter Congenital hypothyroidism Decreased fertility Atrioventricular canal defect Postnatal growth retardation Transposition of the great arteries Prematurely aged appearance Abnormality of blood and blood-forming tissues Impaired pain sensation Shallow acetabular fossae Neutrophilia Abnormality of the ear Dysdiadochokinesis Hallucinations Hypocalcemia Pneumonia Purpura Arnold-Chiari malformation Abnormality of the hand Rheumatoid arthritis Primary amenorrhea Psoriasiform dermatitis Apathy Unilateral renal agenesis Acne Hypoplasia of the brainstem Inflammation of the large intestine Myopathic facies Renal dysplasia Low posterior hairline Atlantoaxial instability Abnormality of the pinna Crackles Transient myeloproliferative syndrome Brushfield spots Round ear Left-to-right shunt Acute megakaryocytic leukemia Autoimmunity Tetralogy of Fallot Dysmetria Hemolytic anemia Rod-cone dystrophy Chorea Renal agenesis Amenorrhea Peripheral demyelination Dense posterior cortical cataract



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Autoimmunity and Psoriasiform dermatitis, related diseases and genetic alterations Autoimmunity and High forehead, related diseases and genetic alterations Myopia and Nevus, related diseases and genetic alterations Motor delay and Clinodactyly, related diseases and genetic alterations Peripheral neuropathy and Muscle cramps, related diseases and genetic alterations

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