Rod-cone dystrophy, and Thrombocytopenia

Diseases related with Rod-cone dystrophy and Thrombocytopenia

In the following list you will find some of the most common rare diseases related to Rod-cone dystrophy and Thrombocytopenia that can help you solving undiagnosed cases.

Top matches:

Medium match ABETALIPOPROTEINEMIA

Abetalipoproteinemia/ homozygous familial hypobetalipoproteinemia (ABL/HoFHBL) is a severe form of familial hypobetalipoproteinemia (see this term) characterized by permanently low levels (below the 5th percentile) of apolipoprotein B and LDL cholesterol, and by growth delay, malabsorption, hepatomegaly, and neurological and neuromuscular manifestations.

ABETALIPOPROTEINEMIA Is also known as hypobetalipoproteinemia, normotriglyceridemic|fhbl|hypobetalipoproteinemia, familial|acanthocytosis with hypobetalipoproteinemia|homozygous familial hypobetalipoproteinemia|bassen-kornzweig disease

Related symptoms:

  • Global developmental delay
  • Ataxia
  • Muscular hypotonia
  • Anemia
  • Visual impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about ABETALIPOPROTEINEMIA

NEMMLAS is an autosomal recessive multisystemic disorder characterized by delayed psychomotor development, intellectual disability, and abnormal motor function, including hypotonia, dystonia, ataxia, and spasticity. Patient tissues may show deficiencies in one or more of the mitochondrial oxidative phosphorylation (OXPHOS) enzymes, but this is not a constant finding (summary by Wortmann et al., 2017).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about NEURODEVELOPMENTAL DISORDER, MITOCHONDRIAL, WITH ABNORMAL MOVEMENTS AND LACTIC ACIDOSIS, WITH OR WITHOUT SEIZURES; NEMMLAS

Progressive familial intrahepatic cholestasis is a heterogeneous group of autosomal recessive liver disorders characterized by early onset of cholestasis that progresses to hepatic fibrosis, cirrhosis, and end-stage liver disease before adulthood (Alonso et al., 1994; Whitington et al., 1994; Klomp et al., 2004). Genetic Heterogeneity of Progressive Familial Intrahepatic CholestasisPFIC is a genetically heterogeneous disorder caused by defects in the transport of bile acids. See also PFIC2 (OMIM ), caused by mutation in a liver-specific ATP-binding cassette transporter gene (ABCB11 ) on chromosome 2q24; PFIC3 (OMIM ), caused by mutation in the class III multidrug resistance P-glycoprotein gene (ABCB4 ) on chromosome 7q21; PFIC4 (OMIM ), caused by mutation in the TJP2 gene (OMIM ) on chromosome 9q12; and PFIC5 (OMIM ), caused by mutation in the NR1H4 gene (OMIM ) on chromosome 12q.PFIC1 and PFIC2 are associated with mildly elevated or normal serum levels of gamma-glutamyltransferase (GGT; see {612346}), whereas PFIC3 is associated with high serum GGT levels and liver histology that shows portal inflammation and ductular proliferation in an early stage ({27,26:Maggiore et al., 1987, 1991}). PFIC4 is associated with normal or mildly increased GGT levels (Sambrotta et al., 2014). PFIC5 is associated with low to normal GGT levels.There are also several phenotypically similar liver disorders that result from congenital defects in bile acid synthesis. See CBAS1 (OMIM ).

CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 1; PFIC1 Is also known as byler disease

Related symptoms:

  • Short stature
  • Hearing impairment
  • Growth delay
  • Failure to thrive
  • Sensorineural hearing impairment


SOURCES: OMIM MENDELIAN

More info about CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 1; PFIC1

Other less relevant matches:

X-linked agammaglobulinemia (XLA) is a clinically variable form of isolated agammaglobulinemia, an inherited immunodeficiency disorder (see this term), and is characterized in affected males by recurrent bacterial infections during infancy.

X-LINKED AGAMMAGLOBULINEMIA Is also known as imd1|bruton-type agammaglobulinemia|bruton type agammaglobulinemia|agammaglobulinemia, x-linked, type 1|immunodeficiency 1|btk-deficiency|agmx1

Related symptoms:

  • Short stature
  • Hearing impairment
  • Ataxia
  • Neoplasm
  • Failure to thrive


SOURCES: ORPHANET OMIM MENDELIAN

More info about X-LINKED AGAMMAGLOBULINEMIA

Noonan syndrome (NS) is an autosomal dominant disorder characterized by short stature, facial dysmorphism, and a wide spectrum of congenital heart defects. The distinctive facial features consist of a broad forehead, hypertelorism, downslanting palpebral fissures, a high-arched palate, and low-set, posteriorly rotated ears. Cardiac involvement is present in up to 90% of patients. Pulmonic stenosis and hypertrophic cardiomyopathy are the most common forms of cardiac disease, but a variety of other lesions are also observed. Additional relatively frequent features include multiple skeletal defects (chest and spine deformities), webbed neck, mental retardation, cryptorchidism, and bleeding diathesis (summary by Tartaglia et al., 2002). Genetic Heterogeneity of Noonan SyndromeSee also NS3 (OMIM ), caused by mutation in the KRAS gene (OMIM ); NS4 (OMIM ), caused by mutation in the SOS1 gene (OMIM ); NS5 (OMIM ), caused by mutation in the RAF1 gene (OMIM ); NS6 (OMIM ), caused by mutation in the NRAS gene (OMIM ); NS7 (OMIM ), caused by mutation in the BRAF gene (OMIM ); NS8 (OMIM ), caused by mutation in the RIT1 gene (OMIM ); NS9 (OMIM ), caused by mutation in the SOS2 gene (OMIM ); and NS10 (OMIM ), caused by mutation in the LZTR1 gene (OMIM ).See also NS2 (OMIM ) for a possible autosomal recessive form of NS; Noonan syndrome-like disorder with loose anagen hair-1 (NSLH1 ), caused by mutation in the SHOC2 gene (OMIM ); Noonan syndrome-like disorder with loose anagen hair-2 (NSLH2 ), caused by mutation in the PPP1CB gene (OMIM ); and Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia (NSLL ), caused by mutation in the CBL gene (OMIM ).Mutations in the neurofibromin gene (NF1 ), which is the site of mutations causing classic neurofibromatosis type I (NF1 ), have been found in neurofibromatosis-Noonan syndrome (NFNS ).

NOONAN SYNDROME 1; NS1 Is also known as female pseudo-turner syndrome|male turner syndrome|noonan syndrome|turner phenotype with normal karyotype

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about NOONAN SYNDROME 1; NS1

Medium match PMM2-CDG

PMM2-CDG is the most frequent form of congenital disorder of N-glycosylation and is characterized by cerebellar dysfunction, abnormal fat distribution, inverted nipples, strabismus and hypotonia. 3 forms of PMM2-CDG can be distinguished: the infantile multisystem type, late-infantile and childhood ataxia-intellectual disability type (3-10 yrs old), and the adult stable disability type. Infants usually develop ataxia, psychomotor delay and extraneurological manifestations including failure to thrive, enteropathy, hepatic dysfunction, coagulation abnormalities and cardiac and renal involvement. The phenotype is however highly variable and ranges from infants who die in the first year of life to mildly involved adults.

PMM2-CDG Is also known as jaeken syndrome|cdg-ia|cdg ia|cdg syndrome type ia|cdg1a|carbohydrate-deficient glycoprotein syndrome, type ia, formerly|carbohydrate deficient glycoprotein syndrome type ia|congenital disorder of glycosylation type 1a|phosphomannomutase 2 deficiency|cdgi

Related symptoms:

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


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about PMM2-CDG

Medium match COHEN SYNDROME; COH1

Cohen syndrome is an autosomal recessive multisystem disorder characterized by many clinical features, including facial dysmorphism, microcephaly, truncal obesity, intellectual disability, progressive retinopathy, and intermittent congenital neutropenia (summary by Duplomb et al., 2014).

COHEN SYNDROME; COH1 Is also known as chs1, formerly|pepper syndrome|coh|hypotonia, obesity, and prominent incisors

Related symptoms:

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


SOURCES: OMIM MESH MENDELIAN

More info about COHEN SYNDROME; COH1

Medium match ALSTRÖM SYNDROME

Alström syndrome (AS) is a multisystemic disorder characterized by cone-rod dystrophy, hearing loss, obesity, insulin resistance and hyperinsulinemia, type 2 diabetes mellitus, dilated cardiomyopathy (DCM; see this term), and progressive hepatic and renal dysfunction.

ALSTRÖM SYNDROME Is also known as alss

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about ALSTRÖM SYNDROME

Alport syndrome is an inherited disorder of the basement membrane, resulting in progressive renal failure due to glomerulonephropathy, variable sensorineural hearing loss, and variable ocular anomalies (review by Kashtan, 1999).Alport syndrome is a genetically heterogeneous disorder, with all forms resulting from mutations in genes encoding type IV collagen, which is a major structural component of the basement membrane. Approximately 85% of cases of Alport syndrome are X-linked and about 15% are autosomal recessive (OMIM ); autosomal dominant inheritance (OMIM ) is rare (Kashtan, 1999).See also benign familial hematuria (BFH ), a phenotypically similar, but milder disorder.Alport syndrome is also a feature of 2 contiguous gene deletion syndromes involving the COL4A5 gene: Alport syndrome and diffuse leiomyomatosis (OMIM ) and Alport syndrome, mental retardation, midface hypoplasia, and elliptocytosis (AMME ).

ALPORT SYNDROME, X-LINKED; ATS Is also known as nephropathy and deafness, x-linked

Related symptoms:

  • Intellectual disability
  • Hearing impairment
  • Sensorineural hearing impairment
  • Cataract
  • Hypertension


SOURCES: ORPHANET OMIM MENDELIAN

More info about ALPORT SYNDROME, X-LINKED; ATS

Thiamine-responsive megaloblastic anemia (TRMA) is characterized by a triad of megaloblastic anemia, non-type I diabetes mellitus, and sensorineural deafness.

THIAMINE-RESPONSIVE MEGALOBLASTIC ANEMIA SYNDROME Is also known as thmd1|trma|thiamine-responsive megaloblastic anemia with diabetes mellitus and sensorineural deafness|rogers syndrome|thiamine-responsive myelodysplasia|thiamine metabolism dysfunction syndrome 1 (megaloblastic anemia, diabetes mellitus, and deafness type

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Microcephaly


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about THIAMINE-RESPONSIVE MEGALOBLASTIC ANEMIA SYNDROME

Top 5 symptoms//phenotypes associated to Rod-cone dystrophy and Thrombocytopenia

Symptoms // Phenotype % cases
Sensorineural hearing impairment Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases
Ataxia Common - Between 50% and 80% cases
Hearing impairment Common - Between 50% and 80% cases

Other less frequent symptoms

Patients with Rod-cone dystrophy and Thrombocytopenia. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases

Cardiomyopathy

Uncommon Symptoms - Between 30% and 50% cases

Nystagmus

Common Symptoms - More than 50% cases

Growth delay

Uncommon Symptoms - Between 30% and 50% cases

Seizures

Common Symptoms - More than 50% cases

Intellectual disability

Uncommon Symptoms - Between 30% and 50% cases

Diarrhea Failure to thrive Retinal degeneration Optic atrophy Gastroesophageal reflux Kyphoscoliosis Encephalopathy Feeding difficulties Vomiting Visual impairment Dilatation Retinopathy Microcephaly Abnormality of the liver Strabismus Cataract Hepatomegaly Diabetes mellitus Retinal dystrophy Postnatal growth retardation Otitis media Neutropenia Weight loss Myopia Ventricular septal defect Splenomegaly Cryptorchidism Fatigue Hypogonadism Cirrhosis Headache Hepatic fibrosis Congestive heart failure Pallor Depressed nasal bridge Edema Visual loss Amblyopia Pigmentary retinopathy Hypothyroidism Respiratory distress Generalized hypotonia Kyphosis Delayed speech and language development Abnormality of retinal pigmentation Chronic diarrhea Hepatic failure Proteinuria Hepatic steatosis Anemia Fever Peripheral neuropathy Muscular hypotonia

Rare Symptoms - Less than 30% cases

Nyctalopia Polyneuropathy Severe global developmental delay Feeding difficulties in infancy Glomerulopathy Atrial septal defect Short neck Thin upper lip vermilion Chronic otitis media Downslanted palpebral fissures Bronchitis Macrotia Stroke High palate Cognitive impairment Ptosis Delayed puberty Hyporeflexia Nephrotic syndrome Pain Abnormal facial shape Cerebellar hypoplasia Micrognathia Hypertelorism Anorexia Failure to thrive in infancy Pectus excavatum Hernia Obesity Pes planus High, narrow palate Recurrent pneumonia Abdominal distention Cubitus valgus Myelodysplasia Amenorrhea Behavioral abnormality Hypotrichosis Clumsiness Left ventricular hypertrophy Blindness Motor delay Scoliosis Cone/cone-rod dystrophy Polycystic ovaries Pulmonic stenosis Abnormal cardiac septum morphology Elevated alkaline phosphatase Respiratory tract infection Insulin resistance Clinodactyly Patent ductus arteriosus Abnormal heart morphology Constipation Hypergonadotropic hypogonadism Abdominal pain Tubulointerstitial nephritis Sparse hair Lipodystrophy Pericardial effusion Restrictive cardiomyopathy Nonimmune hydrops fetalis Hyperglycemia Hypertrophic cardiomyopathy Nephritis Recurrent skin infections Rheumatoid arthritis Elevated hepatic transaminase Constriction of peripheral visual field Childhood-onset truncal obesity Dry skin Intrauterine growth retardation Gingivitis Thrombocytosis Skeletal muscle atrophy Leukopenia Pancreatitis Bilateral sensorineural hearing impairment Sepsis Ophthalmoplegia Hepatosplenomegaly Jaundice Precocious puberty Photophobia Stage 5 chronic kidney disease Dyspnea Abdominal situs inversus Truncal obesity Cerebellar atrophy Hypertension Dystonia Exotropia Renal insufficiency Subcapsular cataract Hypoglycemia Thoracic scoliosis Peripheral visual field loss Posterior subcapsular cataract Neurological speech impairment Neoplasm Muscular hypotonia of the trunk Recurrent infections Malabsorption Depressivity Hypocholesterolemia Abnormality of the coagulation cascade Bull's eye maculopathy Recurrent urinary tract infections Aciduria Hepatitis Peripheral demyelination Sinusitis Progressive visual loss Arthritis Alopecia Growth hormone deficiency Pneumonia Muscle weakness Carcinoma Fat malabsorption Goiter Abnormality of the dentition Hypercholesterolemia Respiratory insufficiency Hemeralopia Narrow palm Tachypnea Abnormality of the hand Cholelithiasis Recurrent respiratory infections Narrow philtrum Progressive sensorineural hearing impairment Hyperinsulinemia Portal hypertension Obsessive-compulsive behavior Chorioretinal dysplasia Thick corpus callosum Urinary urgency Hydroureter Hypoplastic philtrum Pulmonary fibrosis Emphysema Polyuria Macrodontia of permanent maxillary central incisor Abnormal retinal morphology Prominent eyelashes Diabetes insipidus High-pitched cry Polydipsia Cat cry Hyperostosis Acne Chorioretinal atrophy Polyphagia Impaired vibratory sensation Short finger Aplasia/Hypoplasia of the cerebellum Agenesis of permanent teeth Slender toe Glucose intolerance Sleep disturbance Hyperlipidemia Pulmonary arterial hypertension Infertility Hyperpigmentation of the skin Lymphadenopathy Nausea Decreased liver function Tachycardia Hirsutism Thickened skin Involuntary movements Recurrent otitis media Hypertriglyceridemia Epidermal acanthosis Gynecomastia Type II diabetes mellitus Cardiomegaly Optic disc pallor Cyanosis Nephropathy Specific learning disability Decreased testicular size Gastrointestinal hemorrhage Round face Urinary incontinence Vesicoureteral reflux Asthma Carious teeth Hypermetropia Atherosclerosis Autism Myoclonus Acanthosis nigricans Macular degeneration Hyperhidrosis Accelerated skeletal maturation Absence seizures Polydactyly Respiratory failure Ascites Nephrocalcinosis Hypogonadotrophic hypogonadism Generalized hirsutism Generalized tonic-clonic seizures Deeply set eye Increased body weight Conductive hearing impairment Horizontal nystagmus Myalgia Abnormality of the kidney Short toe Irritability Autistic behavior Scarring Cough Dilated cardiomyopathy Hyperkeratosis Urethral stenosis Glycosuria Localized hirsutism Widely-spaced incisors Abnormal retinal artery morphology Precocious puberty in females EEG with occipital slowing Abnormality of prothrombin Abnormality of renal calyx morphology Vitreous haze Glue ear Abnormality of the femoral head Dysphagia Midface retrusion Congenital cataract Ichthyosis Hematuria Subcutaneous nodule Recurrent cystitis Unilateral breast hypoplasia Tinnitus Increased circulating androgen level Hepatic necrosis Chronic hepatic failure Facial hirsutism ST segment depression Multifocal atrial tachycardia High-frequency sensorineural hearing impairment Exudative retinopathy Dilatation of the bladder Nonproductive cough Abnormal adipose tissue morphology Chronic active hepatitis Hyperostosis frontalis interna Receptive language delay Granular macular appearance Thickened ears Corneal dystrophy Chronic kidney disease Abnormality of the pituitary gland Hoarse voice Lethargy Paresthesia Abnormality of the skin Pancytopenia Situs inversus totalis Cardiac arrest Aminoaciduria Cylindruria Secondary amenorrhea Macrocytic anemia Megaloblastic anemia Abnormality of the basal ganglia Sideroblastic anemia Progressive peripheral neuropathy Paroxysmal atrial tachycardia Arrhythmia Morphological abnormality of the semicircular canal Macular dystrophy Periorbital edema Hypoparathyroidism Microscopic hematuria Edema of the lower limbs Corneal erosion Foam cells Elliptocytosis Macroscopic hematuria Lentiglobus Thickening of the glomerular basement membrane Lenticonus Uterine neoplasm Neoplasm of the colon Diffuse glomerular basement membrane lamellation Diffuse leiomyomatosis Anterior lenticonus Hypoplastic male external genitalia Urethral obstruction Hyperuricemia Chronic obstructive pulmonary disease Tubular atrophy Myocarditis Oligospermia Male hypogonadism Myocardial fibrosis Chronic fatigue Esophageal varix Acute hepatic failure High-frequency hearing impairment Ovarian cyst Decreased HDL cholesterol concentration Menstrual irregularities Abnormal renal morphology Endocardial fibroelastosis Retinal pigment epithelial atrophy Recurrent bronchitis Elevated serum creatinine Abnormal renal physiology Retinal atrophy Increased number of teeth Pericarditis Autoimmune thrombocytopenia Severe sensorineural hearing impairment Hypoventilation Insulin-resistant diabetes mellitus Alopecia of scalp Right ventricular hypertrophy Hyperventilation Poor coordination Oligomenorrhea Broad foot Ketoacidosis Pendular nystagmus Attenuation of retinal blood vessels Disinhibition Abnormal left ventricle morphology Squared iliac bones Abnormality of dental color Abnormality of the optic disc Decreased glomerular filtration rate Abnormal spermatogenesis Chronic infection Abnormality of the urethra Lumbar scoliosis Epigastric pain Melena Abnormal chorioretinal morphology Urethral stricture Impaired temperature sensation Female hypogonadism Abnormal muscle tone Albuminuria Renovascular hypertension First degree atrioventricular block Hematemesis Testicular atrophy Chills Tubulointerstitial fibrosis Elevated C-reactive protein level Arteriosclerosis Urinary retention Poor fine motor coordination Pyelonephritis Acute pancreatitis Frontal balding Achromatopsia Chorioretinal dystrophy Hepatic encephalopathy Abnormality of female external genitalia Multinodular goiter Vertical nystagmus Increased total bilirubin Cutis gyrata of scalp Finger syndactyly Laryngeal stenosis Lymph node hypoplasia Leukemia Broad forehead Low-set, posteriorly rotated ears Polyhydramnios Proptosis Posteriorly rotated ears Abnormality of cardiovascular system morphology Intellectual disability, mild Brachydactyly Epicanthus Low-set ears Enteroviral hepatitis Enteroviral dermatomyositis syndrome Prostatitis Bruising susceptibility Epididymitis Abnormality of the tonsils Septic arthritis Recurrent cutaneous abscess formation Pyoderma Thymoma Abnormality of the lymphatic system Myelopathy Cor pulmonale Agammaglobulinemia Glossoptosis Cellulitis Osteomyelitis Encephalitis Facial asymmetry Triangular face Conjunctivitis Radial deviation of finger Shield chest Atrial flutter Drusen Malignant hyperthermia Arnold-Chiari type I malformation Gonadal dysgenesis Abnormality of blood and blood-forming tissues Neuroblastoma Abnormality of the vertebral column Male infertility Cystic hygroma Neurofibromas Abnormality of color vision Leukocytosis Patent foramen ovale Abnormal bleeding Pterygium Poor suck Arnold-Chiari malformation Bicuspid aortic valve Azoospermia Plagiocephaly Lymphedema Primary amenorrhea Low posterior hairline Ventricular hypertrophy Coarctation of aorta Wide intermamillary distance Webbed neck Dental malocclusion Hypopigmented skin patches Recurrent bacterial infections Schwannoma Absent speech Generalized amyotrophy Brisk reflexes Athetosis Leukoencephalopathy Spastic tetraplegia Increased serum lactate Delayed myelination Tetraplegia Lactic acidosis Dysmetria Aggressive behavior Rigidity Acidosis Cerebral atrophy Epileptic spasms Hypertonia Ventriculomegaly Tremor Hyperreflexia Spasticity Steatocystoma multiplex Increased HDL cholesterol concentration Abetalipoproteinemia Decreased LDL cholesterol concentration Acanthocytosis Renal cell carcinoma Reduced tendon reflexes Abnormality of movement Gait disturbance Limb hypertonia Diffuse cerebral atrophy Hypocalcemia Vitamin E deficiency Meningitis Lymphopenia Skin ulcer Telangiectasia Abnormal lung morphology Decreased antibody level in blood Skin rash Autoimmunity Dementia Immunodeficiency Myopathy Intrahepatic cholestasis with episodic jaundice Increased serum bile acid concentration Civatte bodies Intermittent jaundice Multifocal seizures Conjugated hyperbilirubinemia Intrahepatic cholestasis Hepatocellular carcinoma Steatorrhea Malnutrition Congenital sensorineural hearing impairment Hyperbilirubinemia Cholestasis Neuronal loss in central nervous system Pruritus Severe short stature Pes cavus Areflexia Mitochondrial encephalopathy Synovitis Multiple lentigines Hyperplasia of the maxilla Short metacarpal Preauricular skin tag Progressive microcephaly Gingival overgrowth Long eyelashes Tall stature Open mouth Lumbar hyperlordosis High myopia Decreased fetal movement Mitral valve prolapse Narrow forehead Convex nasal ridge Prominent nose Hypoplasia of the maxilla Intellectual disability, progressive Microcornea Single transverse palmar crease Tapered finger Highly arched eyebrow Retinal detachment Small hand Thick vermilion border Iris coloboma Thick eyebrow Joint hypermobility Abnormality of skin pigmentation Arachnodactyly Astigmatism Smooth philtrum Low anterior hairline Sandal gap Genu valgum Facial hypotonia Congenital neutropenia Granulocytopenia Macrodontia Iris atrophy Thick hair Tapetoretinal degeneration Recurrent aphthous stomatitis Aplasia/Hypoplasia of the earlobes Abnormality of the larynx Bone spicule pigmentation of the retina Macular edema Furrowed tongue Deep venous thrombosis Misalignment of teeth Vocal cord paralysis Venous thrombosis Microglossia Hiatus hernia Weak cry Celiac disease Narrow nasal bridge Abnormality of the hip bone Disproportionate tall stature Cerebral hemorrhage Abnormality of dental morphology Intracranial hemorrhage Radioulnar synostosis Short metatarsal Reduced number of teeth Laryngomalacia Joint hyperflexibility Synophrys Asymmetry of the thorax Postductal coarctation of the aorta Atrophy/Degeneration affecting the brainstem IgA deficiency Premature ovarian insufficiency Hypoalbuminemia Truncal ataxia Epileptic encephalopathy Esotropia Renal cyst Abnormality of eye movement Abnormality of the eye Abnormality of the nervous system Osteopenia Prominent forehead Flexion contracture Preductal coarctation of the aorta IgG deficiency Nasogastric tube feeding Reduced factor XIII activity Gonadal neoplasm Pectus excavatum of inferior sternum Loose anagen hair Juvenile myelomonocytic leukemia Panuveitis Neurofibrosarcoma Reduced factor XII activity Superior pectus carinatum Amegakaryocytic thrombocytopenia Hypoplastic aortic arch Lymphangioma Optic disc hypoplasia Inverted nipples Prolonged partial thromboplastin time Small for gestational age Abnormality of the skeletal system Prominent nasal bridge Short philtrum Wide mouth Paralysis Protruding ear Intellectual disability, moderate Joint laxity Neonatal hypotonia Retrognathia Mandibular prognathia Reduced visual acuity Clinodactyly of the 5th finger Microphthalmia Malar flattening Macrocephaly Stroke-like episode Hyperplastic labia majora Abnormal subcutaneous fat tissue distribution Olivopontocerebellar hypoplasia Reduced factor XI activity Reduced antithrombin III activity Congenital nephrotic syndrome Abnormality of the amniotic fluid Pontocerebellar atrophy Micronodular cirrhosis Diffuse mesangial sclerosis Type I transferrin isoform profile Proximal tubulopathy Prolonged prothrombin time Olivopontocerebellar atrophy Thiamine-responsive megaloblastic anemia


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