Rod-cone dystrophy, and Eczema

Diseases related with Rod-cone dystrophy and Eczema

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


Top matches:

Medium match HYPERIMMUNOGLOBULINEMIA D WITH PERIODIC FEVER


Hyperimmunoglobinemia D with periodic fever (HIDS) is a rare autoinflammatory disease characterized by periodic attacks of fever and a systemic inflammatory reaction (cervical lymphadenopathy, abdominal pain, vomiting, diarrhea, arthralgias and skin signs).

HYPERIMMUNOGLOBULINEMIA D WITH PERIODIC FEVER Is also known as hyperimmunoglobinemia d with recurrent fever|hyper-igd syndrome|hyperimmunoglobulinemia d and periodic fever syndrome|partial mevalonate kinase deficiency|hids|periodic fever, dutch type|hyperimmunoglobulinemia d syndrome

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about HYPERIMMUNOGLOBULINEMIA D WITH PERIODIC FEVER

Medium 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 NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1C; CSNB1C


NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1C; CSNB1C Is also known as csnb, complete, autosomal recessive

Related symptoms:

  • Nystagmus
  • Myopia
  • Blindness
  • Reduced visual acuity
  • Nyctalopia


SOURCES: MESH OMIM MENDELIAN

More info about NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1C; CSNB1C

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Other less relevant matches:

Low match ROIFMAN SYNDROME


Roifman syndrome is a rare, genetic immuno-osseous dysplasia disorder characterized by pre- and post-natal growth retardation, hypotonia, borderline to moderate intellectual disability, retinal dystrophy, spondyloepiphyseal dysplasia (epiphyseal dysplasia, epiphyses ossification delay, vertebral changes) and skeletal anomalies (brachydactyly, fifth finger clinodactyly), as well as humeral immunodeficiency characterized by inability to generate specific antibodies and low circulating B-cells. Craniofacial dysmorphism, that typically inlcudes microcephaly, hypertelorism, long palpebral fissures, prominent eyelashes, a narrow, tubular, upturned nose with hypoplastic alae nasi, long philtrum and thin upper lip, are also associated.

ROIFMAN SYNDROME Is also known as spondyloepiphyseal dysplasia-retinal dystrophy-immunodeficiency syndrome|spondyloepiphyseal dysplasia, retinal dystrophy, and antibody deficiency

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about ROIFMAN SYNDROME

Low match HYPOPARATHYROIDISM-SENSORINEURAL DEAFNESS-RENAL DISEASE SYNDROME


Hypoparathyroidism-sensorineural deafness-renal disease syndrome is a rare, clinically heterogeneous genetic disorder characterized by the triad of hypoparathyroidism (H), sensorineural deafness (D) and renal disease (R).

HYPOPARATHYROIDISM-SENSORINEURAL DEAFNESS-RENAL DISEASE SYNDROME Is also known as barakat syndrome|hdrs|nephrosis, nerve deafness, and hypoparathyroidism|hdr syndrome|hypoparathyroidism, sensorineural deafness, and renal dysplasia syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Hearing impairment
  • Growth delay
  • Nystagmus


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about HYPOPARATHYROIDISM-SENSORINEURAL DEAFNESS-RENAL DISEASE SYNDROME

Low match CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 1; PFIC1


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

Low match X-LINKED AGAMMAGLOBULINEMIA


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

Low match AUTOIMMUNE POLYENDOCRINOPATHY TYPE 1


Autoimmune polyendocrinopathy type 1, or APECED syndrome, is a genetic disease that manifests in childhood or early adolescence with a combination of chronic mucocutaneous candidiasis, hypoparathyroidism and autoimmune adrenal failure.

AUTOIMMUNE POLYENDOCRINOPATHY TYPE 1 Is also known as autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy|apeced|autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome|autoimmune hypoparathyroidism-chronic candidiasis-addison disease syndrome|apeced syndrome|polyglandular autoimmu

Related symptoms:

  • Seizures
  • Abnormal facial shape
  • Cataract
  • Anemia
  • Visual impairment


SOURCES: OMIM ORPHANET MENDELIAN

More info about AUTOIMMUNE POLYENDOCRINOPATHY TYPE 1

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 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

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

Symptoms // Phenotype % cases
Growth delay Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Sensorineural hearing impairment Common - Between 50% and 80% cases
Hearing impairment Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases
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Other less frequent symptoms

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

Common Symptoms - More than 50% cases


Failure to thrive

Uncommon Symptoms - Between 30% and 50% cases


Seizures Microcephaly Diarrhea Nystagmus Cataract Global developmental delay Abnormal facial shape Sepsis Muscular hypotonia Nyctalopia Ptosis Postnatal growth retardation Pneumonia Cardiomyopathy Hepatomegaly Generalized hypotonia Hypertelorism Diabetes mellitus Fatigue Vomiting Blindness Reduced visual acuity Stroke Abnormality of the liver Feeding difficulties in infancy Immunodeficiency Hypothyroidism Sinusitis Hypocalcemia Dilatation Recurrent infections Retinopathy Acidosis Cerebellar hypoplasia Malabsorption Muscle weakness Pigmentary retinopathy Anemia Hypogonadism Visual impairment Motor delay Hypoparathyroidism Optic atrophy Respiratory distress Decreased antibody level in blood Myopathy Hypopigmented skin patches Abnormality of retinal pigmentation Neutropenia Posterior subcapsular cataract Recurrent pneumonia Arthritis Nausea Renal insufficiency Depressivity Splenomegaly Skin rash Constipation Fever Retinal dystrophy Pain Ataxia Nephrotic syndrome Hepatosplenomegaly Otitis media Myalgia

Rare Symptoms - Less than 30% cases


Pancreatitis Ischemic stroke Chronic kidney disease Basal ganglia calcification Hyperkinesis Progressive sensorineural hearing impairment High, narrow palate Type I diabetes mellitus Adrenal insufficiency Thick vermilion border Ventricular hypertrophy Narrow forehead Progressive microcephaly Granulocytopenia Neurological speech impairment Dilated cardiomyopathy Leukopenia Pruritus Ophthalmoplegia Congenital cataract Nausea and vomiting Open mouth Gingival overgrowth Delayed puberty Polymicrogyria Muscle cramps Cerebral calcification Bilateral sensorineural hearing impairment Abnormality of immune system physiology Decreased body weight Left ventricular hypertrophy Thyroiditis Abnormality of the cerebellar vermis Primary adrenal insufficiency Cleft palate Thin upper lip vermilion Single transverse palmar crease Short metacarpal Recurrent skin infections Recurrent bacterial infections Meningitis Prominent eyelashes Lymphopenia Clinodactyly of the 5th finger Renal tubular acidosis Tetany Congenital sensorineural hearing impairment Chronic diarrhea Thrombocytopenia Alopecia Autoimmunity Hepatitis Agenesis of corpus callosum Rheumatoid arthritis Severe global developmental delay High palate Vitiligo Renal tubular dysfunction Hemeralopia Abnormal macular morphology Respiratory tract infection Myopia Depressed nasal bridge Micrognathia Long philtrum Chronic mucocutaneous candidiasis Macular atrophy Constriction of peripheral visual field Intrauterine growth retardation Downslanted palpebral fissures Bronchitis Anteverted nares Edema Protruding ear Ventricular septal defect Hypertrophic cardiomyopathy Congestive heart failure Migraine Dementia Subcapsular cataract Areflexia Visual loss Encephalopathy Lymphadenopathy Kyphosis Vertigo Hypertonia Cerebellar atrophy Dehydration Recurrent aphthous stomatitis Erythema Pallor Ventriculomegaly Abdominal pain Headache Feeding difficulties Peripheral neuropathy Neoplasm Hyperreflexia Scoliosis Aciduria Peripheral visual field loss Cerebral cortical atrophy Conjunctivitis Proteinuria Gastroesophageal reflux Jaundice Weight loss Intestinal obstruction Photophobia EEG abnormality Long eyelashes Purpura Coarse facial features Arthralgia Joint stiffness Cleft upper lip Pulmonary hypoplasia Wide nose Cleft lip Muscular hypotonia of the trunk Hypospadias Respiratory failure Recurrent respiratory infections Hyperhidrosis Epicanthus Cough Low-set ears Spasticity Papule Patchy atrophy of the retinal pigment epithelium Decreased circulating parathyroid hormone level Salt craving Chronic active hepatitis Chronic atrophic gastritis Abnormality of calcium-phosphate metabolism Civatte bodies Abnormal lung morphology Sleep disturbance Fat malabsorption Severe sensorineural hearing impairment Hypopigmentation of hair Optic neuropathy Centrally nucleated skeletal muscle fibers Neurodevelopmental delay Combined immunodeficiency Albinism Poor suck Adducted thumb Infantile muscular hypotonia Conjugated hyperbilirubinemia Aplasia/Hypoplasia of the corpus callosum Increased body weight Hypopigmentation of the skin Aspiration Flexion contracture Decreased liver function Heterotopia Frontal bossing Progressive neurologic deterioration Intermittent jaundice Cerebellar vermis hypoplasia Hypotelorism Vitamin E deficiency Delayed myelination Triangular face Chronic hepatitis Female hypogonadism Gastritis Alopecia areata Myelopathy Enteroviral hepatitis Enteroviral dermatomyositis syndrome Lymph node hypoplasia Prostatitis Urticaria Epididymitis Abnormality of the tonsils Septic arthritis Recurrent cutaneous abscess formation Pyoderma Thymoma Abnormality of the lymphatic system Cor pulmonale Hypotrichosis Agammaglobulinemia Glossoptosis Abdominal distention Cellulitis Osteomyelitis Chronic otitis media Limitation of joint mobility Encephalitis Vasculitis Gastrointestinal hemorrhage Skin ulcer Telangiectasia Optic disc pallor Rigidity Apathy Keratoconjunctivitis Antinuclear antibody positivity Increased serum bile acid concentration Recurrent urinary tract infections Central diabetes insipidus Alopecia universalis Decreased circulating aldosterone level Intrahepatic cholestasis with episodic jaundice Alopecia totalis Achalasia Delayed speech and language development Abnormality of the cerebral vasculature Infertility Asplenia Hypermelanotic macule Hypotension Adrenal hyperplasia Aspiration pneumonia Chronic sinusitis Increased circulating cortisol level Metaphyseal dysplasia Leukocytosis Abnormality of the thyroid gland Diabetes insipidus Cholelithiasis Opacification of the corneal stroma Abnormality of the fingernails Hypergonadotropic hypogonadism Hypoplasia of dental enamel IgG deficiency Hypopigmentation of the fundus Severe failure to thrive Sandal gap Abnormality of the hip bone Truncal obesity Disproportionate tall stature Cerebral hemorrhage Abnormality of dental morphology Cubitus valgus Failure to thrive in infancy Intracranial hemorrhage Radioulnar synostosis Precocious puberty Short metatarsal Reduced number of teeth Laryngomalacia Venous thrombosis Intellectual disability, progressive Celiac disease Low anterior hairline Preauricular skin tag Exotropia Tall stature Clumsiness Lumbar hyperlordosis High myopia Decreased fetal movement Mitral valve prolapse Progressive visual loss Convex nasal ridge Growth hormone deficiency Prominent nose Hypoplasia of the maxilla Narrow nasal bridge Weak cry Tapered finger Bull's eye maculopathy Cat cry Hypoplastic philtrum Childhood-onset truncal obesity Macrodontia of permanent maxillary central incisor Thick corpus callosum High-pitched cry Chorioretinal dysplasia Narrow philtrum Narrow palm Cutis gyrata of scalp Chorioretinal dystrophy Laryngeal stenosis Hyperplasia of the maxilla Congenital neutropenia Macrodontia Thoracic scoliosis Deep venous thrombosis Hiatus hernia Gingivitis Microglossia Vocal cord paralysis Facial hypotonia Misalignment of teeth Furrowed tongue Iris atrophy Macular edema Bone spicule pigmentation of the retina Abnormality of the larynx Aplasia/Hypoplasia of the earlobes Tapetoretinal degeneration Thick hair Microcornea Highly arched eyebrow Depressed nasal tip Abnormality of the thymus Strabismus Acute bronchitis White matter neuronal heterotopia Severe T-cell immunodeficiency Penile hypospadias Immunoglobulin IgG2 deficiency Ureteral atresia Aplasia/Hypoplasia of the macula Decreased T cell activation Cutaneous anergy Abnormal immunoglobulin level Frontoparietal polymicrogyria Schizencephaly Muscle flaccidity Abnormality of the optic disc Macrocephaly Recurrent aspiration pneumonia Decreased proportion of CD4-positive T cells Abnormality of the mandible Pontocerebellar atrophy Abnormal posturing Recurrent fungal infections Thrombocytosis Cellular immunodeficiency Hypoplasia of the thymus Recurrent viral infections Abnormal cortical gyration Hypoplasia of the pons Fair hair Ocular albinism Cryptorchidism Abnormality of the skeletal system Retinal detachment Prominent nasal bridge Small hand Iris coloboma Thick eyebrow Joint hypermobility Abnormality of skin pigmentation Retinal degeneration Arachnodactyly Astigmatism Smooth philtrum Joint hyperflexibility Genu valgum Synophrys Finger syndactyly Small for gestational age Short philtrum Behavioral abnormality Macrotia Malar flattening Microphthalmia Hernia Obesity Pectus excavatum Mandibular prognathia Kyphoscoliosis Wide mouth Retrognathia Pes planus Neonatal hypotonia Joint laxity Intellectual disability, moderate Paralysis Intrahepatic cholestasis Severe short stature Hepatocellular carcinoma Bifid scrotum Multiple lipomas Prolonged QT interval Visual field defect Hyperkalemia Dysphasia Vestibular dysfunction Aphasia Bundle branch block Short neck Overlapping toe Abnormality of neuronal migration Focal segmental glomerulosclerosis Hemiplegia/hemiparesis Mask-like facies Aplasia/Hypoplasia of the cerebellum Respiratory insufficiency Personality changes Ophthalmoparesis Hyponatremia Abnormality of mitochondrial metabolism Aortic aneurysm Hemiplegia Bilateral ptosis Hypercalciuria Decreased nerve conduction velocity Cachexia Atrioventricular block Growth abnormality Easy fatigability Goiter Vertebral fusion Glomerulopathy Mutism Mitochondrial myopathy Anterior hypopituitarism Gait imbalance Reduced consciousness/confusion Cerebral ischemia Wolff-Parkinson-White syndrome Increased CSF lactate Visual hallucinations Tubulointerstitial nephritis Aortic dissection Facial diplegia Cardiorespiratory arrest Delusions Transient ischemic attack Progressive external ophthalmoplegia Dysarthria Hyperthyroidism Heart block Xerostomia Skeletal muscle atrophy Neonatal hypoglycemia Abnormality of visual evoked potentials Hashimoto thyroiditis Atopic dermatitis Drowsiness Distal arthrogryposis Pulmonary embolism Tremor Gait disturbance Dysphagia Rhabdomyolysis Schizophrenia Abnormality of the dentition Seborrheic dermatitis Paresthesia Sensory impairment Sudden cardiac death Generalized myoclonic seizures Abnormal cerebellum morphology Postural instability Coma Polyneuropathy Nephropathy Hirsutism Myoclonus Lactic acidosis Peripheral axonal neuropathy Ichthyosis Confusion Dysmetria Memory impairment Anal atresia Osteoporosis Gait ataxia Carious teeth Autism Arthrogryposis multiplex congenita Lethargy Generalized tonic-clonic seizures Dyspnea Attention deficit hyperactivity disorder Anxiety Abnormality of the pinna Developmental regression Mental deterioration Increased serum lactate Hip dysplasia Ragged-red muscle fibers Anorexia Reduced tendon reflexes External ophthalmoplegia Dystonia Macular degeneration Exercise intolerance Hypogonadotrophic hypogonadism Generalized hirsutism EMG abnormality Truncal ataxia Cardiac arrest Clonus Cerebral visual impairment Hallucinations Cerebral atrophy Arrhythmia Specific learning disability Involuntary movements Hypertrichosis Hemiparesis Atrial fibrillation Psychosis Status epilepticus Pulmonary arterial hypertension Type II diabetes mellitus Hyporeflexia Generalized-onset seizure Abnormality of the cardiovascular system Elevated serum creatine phosphokinase Delayed skeletal maturation Amenorrhea Stroke-like episode Left ventricular failure Steatorrhea Uveitis Nephrocalcinosis Multicystic kidney dysplasia Horizontal nystagmus Renal dysplasia Ectodermal dysplasia Vesicoureteral reflux Hematuria Abnormality of the kidney Hydronephrosis Abnormal heart morphology Episodic fever Biconvex vertebral bodies Irregular femoral epiphysis Noncompaction cardiomyopathy Humoral immunodeficiency Polycystic ovaries Short digit Pulmonary edema Narrow nose Irregular vertebral endplates Hip contracture Long palpebral fissure Partial agenesis of the corpus callosum Spondyloepiphyseal dysplasia Pleural effusion Eosinophilia Tachypnea Narrow palpebral fissure Finger clinodactyly Short toe Abnormality of the urinary system Polycystic kidney dysplasia Recurrent otitis media Unilateral deafness Malnutrition Elevated erythrocyte sedimentation rate Hyperbilirubinemia Hepatic fibrosis Cholestasis Neuronal loss in central nervous system Hepatic failure Cirrhosis Carcinoma Apnea Pes cavus Unilateral renal dysplasia Parathyroid hypoplasia Abnormality of T cell physiology Bilateral renal dysplasia Psoriasiform dermatitis Thickening of the glomerular basement membrane Septate vagina Pseudopapilledema Proximal renal tubular acidosis Distal renal tubular acidosis Uterus didelphys Hypocalcemic seizures Aplasia of the uterus Ovarian cyst Vaginal atresia Colitis Severe postnatal growth retardation Amyloidosis Unilateral renal agenesis Poor coordination Cardiomegaly Speech apraxia Gastroparesis Progressive night blindness Cochlear malformation Edema of the dorsum of hands Abnormal mitochondrial morphology Paronychia Spotty hypopigmentation Hypertension Crohn's disease Psychotic episodes Tubulointerstitial abnormality Renal Fanconi syndrome Abnormal nerve conduction velocity Auditory hallucinations Amaurosis fugax Spontaneous hematomas Abnormal mitochondrial shape Leber optic atrophy Persistence of primary teeth Writer's cramp Muscle fiber atrophy Psychomotor deterioration Dysesthesia Motor polyneuropathy Episodic vomiting Abnormality of the renal tubule Hemianopia Ileus Proximal tubulopathy Abnormality of peripheral nerve conduction Retinal pigment epithelial atrophy Cochlear degeneration Paralytic ileus Underdeveloped nasal alae Optic neuritis Acrocyanosis Premature birth Large forehead Downturned corners of mouth Tachycardia Peritonitis Chills Clinodactyly Increased IgA level Neuritis Intellectual disability, mild Porokeratosis Erysipelas Neutrophilia Cervical lymphadenopathy Abnormal cochlea morphology Prominent ear helix Homonymous hemianopia Abnormality of acid-base homeostasis Episodic quadriplegia Bilateral intracranial calcifications Morphological abnormality of the vestibule of the inner ear Morphological abnormality of the inner ear Cognitive impairment Brachydactyly Pharyngitis Dry skin Abnormal electroretinogram Congenital stationary night blindness Complete congenital stationary night blindness Serositis Slender toe



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