Microphthalmia, and Glucose intolerance

Diseases related with Microphthalmia and Glucose intolerance

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

Top matches:

High match FANCONI ANEMIA

Fanconi anemia (FA) is a hereditary DNA repair disorder characterized by progressive pancytopenia with bone marrow failure, variable congenital malformations and predisposition to develop hematological or solid tumors.

FANCONI ANEMIA Is also known as fanconi pancytopenia|fanconi anemia|fa

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about FANCONI ANEMIA

MANDIBULOACRAL DYSPLASIA WITH TYPE B LIPODYSTROPHY; MADB Is also known as lipodystrophy, type b, associated with mandibuloacral dysplasia

Related symptoms:

  • Growth delay
  • Micrognathia
  • Flexion contracture
  • High palate
  • Abnormality of the skeletal system


SOURCES: ORPHANET OMIM MENDELIAN

More info about MANDIBULOACRAL DYSPLASIA WITH TYPE B LIPODYSTROPHY; MADB

This autosomal recessive systemic autoinflammatory disorder is characterized by early childhood onset of annular erythematous plaques on the face and extremities with subsequent development of partial lipodystrophy and laboratory evidence of immune dysregulation. More variable features include recurrent fever, severe joint contractures, muscle weakness and atrophy, hepatosplenomegaly, basal ganglia calcifications, and microcytic anemia (summary by Agarwal et al., 2010; Kitamura et al., 2011; Arima et al., 2011).This disorder encompasses Nakajo-Nishimura syndrome (NKJO); joint contractures, muscular atrophy, microcytic anemia, and panniculitis-induced lipodystrophy (JMP syndrome); and chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature syndrome (CANDLE). Among Japanese patients, this disorder is best described as Nakajo-Nishimura syndrome, since both Nakajo (1939) and Nishimura et al. (1950) contributed to the original phenotypic descriptions. Genetic Heterogeneity of Proteasome-Associated Autoinflammatory SyndromeSee also PRAAS2 (OMIM ), caused by mutation in the POMP gene (OMIM ) on chromosome 13q12, and PRAAS3 (OMIM ), caused by mutation in the PSMB4 gene (OMIM ) on chromosome 1q21.

PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 1; PRAAS1 Is also known as chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature syndrome|candle|joint contractures, muscular atrophy, microcytic anemia, and panniculitis-induced lipodystrophy|autoinflammation, lipodystrophy, and dermatosis syndrome|n

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Failure to thrive
  • Muscle weakness


SOURCES: OMIM ORPHANET MENDELIAN

More info about PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 1; PRAAS1

Other less relevant matches:

Medium match ISOLATED ANIRIDIA

Isolated aniridia is a congenital bilateral ocular malformation characterized by the complete or partial absence of the iris.

ISOLATED ANIRIDIA Is also known as an2, formerly|aniridia ii, formerly|an

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about ISOLATED ANIRIDIA

Intellectual disability-cataracts-calcified pinnae-myopathy syndrome is a rare, genetic intellectual disability syndrome characterized by macrocephaly, hypotonia, dysmorphic facial features (wide forehead, ptosis, downslanting palpebral fissures, enlarged and calcified external ears, large jaw), sparse body hair, tall stature, and intellectual disability. Hearing loss, insulin-resistant diabetes, and progressive distal muscle wasting (leading to joint contractures) have also been reported in adulthood. Rare manifestations include behavioral abnormalities (aggression and restlessness), hypothyroidism, cerebral calcification, ataxia, and peripheral neuropathy.

INTELLECTUAL DISABILITY-CATARACTS-CALCIFIED PINNAE-MYOPATHY SYNDROME Is also known as primrose syndrome|ossified ear cartilages with mental deficiency, muscle wasting, and bony changes

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about INTELLECTUAL DISABILITY-CATARACTS-CALCIFIED PINNAE-MYOPATHY SYNDROME

Medium match SHORT SYNDROME

SHORT syndrome is a rare inherited condition of multiple anomalies whose name stands for short stature, hyperextensibility of joints, ocular depression, Rieger anomaly (see this term) and teething delay which, along with mild intrauterine growth restriction, partial lipodystrophy, delayed bone age, hernias and progeroid appearance, are manifestations of the disease.

SHORT SYNDROME Is also known as lipodystrophy-rieger anomaly-diabetes syndrome|short stature, hyperextensibility, hernia, ocular depression, rieger anomaly, and teething delay|aarskog-ose-pande syndrome|lipodystrophy, partial, with rieger anomaly and short stature|rieger anomaly-partial

Related symptoms:

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


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about SHORT SYNDROME

Prader-Willi syndrome is characterized by diminished fetal activity, obesity, muscular hypotonia, mental retardation, short stature, hypogonadotropic hypogonadism, and small hands and feet. It can be considered to be an autosomal dominant disorder and is caused by deletion or disruption of a gene or several genes on the proximal long arm of the paternal chromosome 15 or maternal uniparental disomy 15, because the gene(s) on the maternal chromosome(s) 15 are virtually inactive through imprinting. Horsthemke and Wagstaff (2008) provided a detailed review of the mechanisms of imprinting of the Prader-Willi/Angelman syndrome (OMIM ) region.See also the chromosome 15q11-q13 duplication syndrome (OMIM ), which shows overlapping clinical features.

PRADER-WILLI SYNDROME; PWS Is also known as prader-labhart-willi syndrome

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about PRADER-WILLI SYNDROME; PWS

Juvenile cataract - microcornea - renal glucosuria is an extremely rare autosomal dominant association reported in a single Swiss family and characterized clinically by juvenile cataract associated with bilateral microcornea, and renal glucosuria without other renal tubular defects.

JUVENILE CATARACT-MICROCORNEA-RENAL GLUCOSURIA SYNDROME Is also known as cjmg, formerly|cataract, juvenile, with microcornea and glucosuria, formerly|cataract, juvenile, with microcornea

Related symptoms:

  • Cataract
  • Microphthalmia
  • Microcornea
  • Glycosuria
  • Juvenile cataract


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about JUVENILE CATARACT-MICROCORNEA-RENAL GLUCOSURIA SYNDROME

Low match HYPERGLYCINURIA

The imino acids, proline and hydroxyproline, share a renal tubular reabsorptive mechanism with glycine. Iminoglycinuria (IG ), a benign inborn error of amino acid transport, is also a normal finding in neonates and infants under 6 months of age (Chesney, 2001). Early studies of families with iminoglycinuria suggested genetic complexity, with homozygotes developing IG and heterozygotes manifesting only hyperglycinuria (HG) (summary by Broer et al., 2008).A phenotype of combined glucosuria and glycinuria has been described (see {138070}).

HYPERGLYCINURIA Is also known as glycinuria with or without oxalate nephrolithiasis|glycinuria with or without oxalate urolithiasis|iminoglycinuria type ii

Related symptoms:

  • Seizures
  • Cataract
  • Hypertension
  • Microphthalmia
  • Tachycardia


SOURCES: OMIM MESH MENDELIAN

More info about HYPERGLYCINURIA

Williams syndrome is a rare genetic multisystemic neurodevelopmental disorder characterized by a distinct facial appearance, cardiac anomalies (most frequently supravalvular aortic stenosis), cognitive and developmental abnormalities, and connective tissue abnormalities (such as joint laxity)

WILLIAMS SYNDROME Is also known as deletion 7q11.23|williams syndrome|williams-beuren syndrome|chromosome 7q11.23 deletion syndrome, 1.5- to 1.8-mb|wms|monosomy 7q11.23|ws

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about WILLIAMS SYNDROME

Top 5 symptoms//phenotypes associated to Microphthalmia and Glucose intolerance

Symptoms // Phenotype % cases
Cataract Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Micrognathia Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases

Other less frequent symptoms

Patients with Microphthalmia and Glucose intolerance. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases

Diabetes mellitus

Uncommon Symptoms - Between 30% and 50% cases

Abnormal facial shape Seizures Cryptorchidism Macrotia Failure to thrive Hearing impairment Congestive heart failure Flexion contracture Scoliosis Insulin resistance Pain Intellectual disability, mild Osteopenia Strabismus Hypothyroidism Ataxia Hypogonadism Generalized hypotonia Kyphosis Growth delay Microcephaly Neoplasm High palate Ptosis Intrauterine growth retardation Nystagmus Abnormality of the skeletal system Osteoporosis Hypertension Anemia Hypopigmentation of the skin Macrocephaly Increased body weight Myopathy Behavioral abnormality Malar flattening Recurrent urinary tract infections Genu valgum Hypertelorism Autism Small for gestational age Insulin-resistant diabetes mellitus Downturned corners of mouth Lipodystrophy Hyperinsulinemia Abnormality of the dentition Myopia Delayed speech and language development Full cheeks Narrow mouth Short nose Attention deficit hyperactivity disorder Midface retrusion Abnormal glucose tolerance Thick lower lip vermilion Weight loss Glaucoma Micropenis Hypertonia Microcornea Epicanthus Depressed nasal bridge Fever Abnormal heart morphology

Rare Symptoms - Less than 30% cases

Hypoplasia of the corpus callosum Dental crowding Thin skin Short chin Precocious puberty Abnormal form of the vertebral bodies High forehead Congenital cataract Failure to thrive in infancy Hip dysplasia Agenesis of corpus callosum Hypertriglyceridemia Hyperactivity Joint stiffness Arachnodactyly Poor coordination Narrow forehead Restlessness Striae distensae Aplasia/Hypoplasia of the iris Type II diabetes mellitus Truncal obesity Aortic valve stenosis Anteverted nares Almond-shaped palpebral fissure Abnormal carotid artery morphology Hypogonadotrophic hypogonadism Schizophrenia Bicuspid aortic valve Infantile muscular hypotonia Alopecia Otitis media Lipoatrophy Tremor Hypoplasia of the iris Albinism Abnormality of the cardiovascular system Adrenal insufficiency Basal ganglia calcification Skeletal muscle atrophy Edema Babinski sign Gait disturbance Hypoplasia of the fovea Arthralgia Central adrenal insufficiency Vascular tortuosity Cardiomegaly Scarring Retinal vascular tortuosity Glycosuria Intellectual disability, severe Hyperglycemia Developmental regression Macroglossia Abnormally large globe Abnormality of the neck Broad forehead Protruding ear Generalized lipodystrophy Deeply set eye Nephrolithiasis Polymicrogyria Amblyopia Abnormality of lipid metabolism Intellectual disability, moderate Pectus excavatum Gait ataxia Opacification of the corneal stroma Abnormality of nervous system morphology Smooth philtrum Radial deviation of finger Hypertrophic cardiomyopathy Hypergonadotropic hypogonadism Irritability Short palm Abnormality of the kidney Type I diabetes mellitus Joint hyperflexibility Posterior embryotoxon Neurological speech impairment Dental malocclusion Muscular hypotonia Corneal opacity Reduced bone mineral density Joint laxity Feeding difficulties Prominent forehead Delayed skeletal maturation Hypodontia Recurrent respiratory infections Umbilical hernia Leukemia Cognitive impairment Dolichocephaly Hip dislocation Megalocornea Abnormality of skin pigmentation Abnormality of dental enamel Nephrocalcinosis Renal agenesis Postnatal growth retardation Tetralogy of Fallot Abnormal cardiac septum morphology Oligohydramnios Abnormality of the liver Choanal atresia Obesity Microdontia Tracheoesophageal fistula Pes planus Inguinal hernia Chromosome breakage Hydrocephalus Respiratory distress Carious teeth Ventriculomegaly Sleep disturbance Clinodactyly Frontal bossing Thrombocytopenia Patent ductus arteriosus Stroke Hyperreflexia Hepatomegaly Renal insufficiency Atrial septal defect Clinodactyly of the 5th finger Myeloid leukemia Upslanted palpebral fissure Sensorineural hearing impairment Cleft palate Esotropia Visual impairment Depressivity Proptosis Severe short stature Wide nasal bridge Abnormal renal morphology Hernia Frontal upsweep of hair Enlarged epiphyses Poor fine motor coordination Dysarthria Clitoral hypoplasia Anteverted ears Ventricular septal defect Temperature instability Spasticity Hypopnea Syncope Tachycardia Juvenile cataract Acromicria Hyperglycinuria Calcium oxalate nephrolithiasis Poor gross motor coordination Narrow palm Erysipelas Psychotic episodes Abnormality of the zygomatic bone Paroxysmal tachycardia Hypoplastic labia minora Hypoplastic facial bones Triangular mouth Birth length less than 3rd percentile Disseminated intravascular coagulation Amenorrhea Dilatation Motor delay Delayed puberty Abnormality of the nervous system Apnea Nasal speech Poor suck Abnormality of the pinna Respiratory tract infection Pruritus Scrotal hypoplasia Sleep apnea Hypermetropia Narrow palpebral fissure Spontaneous abortion Infertility Large hands Small hand Short foot Bradycardia Tapered finger Primary amenorrhea Cutaneous photosensitivity Psychosis Sepsis Gastrointestinal hemorrhage Decreased fetal movement Growth hormone deficiency Febrile seizures Emotional lability Inflammation of the large intestine Abdominal obesity Central hypotonia Cor pulmonale Talipes equinovarus Generalized hypopigmentation Hypothermia Ocular albinism Vomiting Acrocyanosis Oligomenorrhea Syndactyly Specific learning disability Hyporeflexia Overweight Respiratory failure Skeletal muscle hypertrophy Iris hypopigmentation Hypoventilation Thin upper lip vermilion Hypopigmentation of hair Pulmonary embolism Photophobia Impaired pain sensation Narrow nasal bridge Hypoglycemia Polyphagia External genital hypoplasia Neonatal hypotonia Decreased muscle mass Clumsiness Hypotelorism Long philtrum Lacrimation abnormality Cerebral ischemia Abnormality of refraction Gait imbalance Periorbital fullness Decreased plasma carnitine Peripheral pulmonary artery stenosis Subvalvular aortic stenosis Bladder diverticulum Villous atrophy Cystic renal dysplasia Peptic ulcer Periorbital edema Rectal prolapse Arterial stenosis Dysgraphia Phonophobia Parathyroid hyperplasia Dyslexia Enuresis Increased nuchal translucency Patellar dislocation Prematurely aged appearance Facial cleft Insomnia Arnold-Chiari type I malformation Nevus flammeus Soft skin Pulmonary artery stenosis Abnormality of the vasculature Multiple renal cysts Abnormality of the cerebral vasculature Down-sloping shoulders Vocal cord paralysis Blue irides Hypoplasia of the zygomatic bone Chronic constipation Right ventricular hypertrophy Tubulointerstitial nephritis Large earlobe Urethral stenosis Thyroid hypoplasia Celiac disease Bilateral vocal cord paralysis Impaired visuospatial constructive cognition Calcification of the aorta Unilateral renal hypoplasia Myxomatous mitral valve degeneration Paroxysmal bursts of laughter Abnormality of the diencephalon Medial flaring of the eyebrow Elfin facies Thyroid hemiagenesis Flat cornea Nystagmus-induced head nodding Overfriendliness Early onset of sexual maturation Dyssynergia Stellate iris Functional abnormality of male internal genitalia Descending aorta hypoplasia Vocal cord dysfunction Supravalvular aortic stenosis Abnormal social behavior Abnormal endocardium morphology Synostosis of joints Renal duplication Colonic diverticula Abnormality of the ankles Tubulointerstitial abnormality Overriding aorta Aortic arch aneurysm Obsessive-compulsive trait Nocturia Abnormality of the bladder Renovascular hypertension Renal artery stenosis Coronary artery stenosis Retinal arteriolar tortuosity Hyperacusis Pelvic kidney Food intolerance Infantile hypercalcemia Abnormality of the gastric mucosa High hypermetropia Vertebral segmentation defect Absent speech Vesicoureteral reflux Dysmetria Oral cleft Thick vermilion border Everted lower lip vermilion Postural instability Broad nasal tip Sudden cardiac death Chest pain Dehydration Nausea and vomiting Mitral valve prolapse Hypoplasia of penis Abnormality of extrapyramidal motor function Abnormality of the mandible Coarctation of aorta Hypsarrhythmia Ventricular hypertrophy Renal hypoplasia Malabsorption Pulmonic stenosis Myocardial infarction Anxiety Elevated serum creatine phosphokinase Constipation Cerebellar hypoplasia Abdominal pain Cerebral cortical atrophy Gastroesophageal reflux Kyphoscoliosis Coarse facial features Proteinuria Blepharophimosis Cleft lip Low-set, posteriorly rotated ears Feeding difficulties in infancy Hyperlordosis Autistic behavior Paralysis Wide mouth Craniosynostosis Small nail Hemiparesis Premature graying of hair Nephritis Dysphonia Hypercalciuria Cholelithiasis Redundant skin Hypercalcemia Radioulnar synostosis Portal hypertension Abnormality of the voice Chronic otitis media Incoordination Obsessive-compulsive behavior Unilateral renal agenesis Abnormality of dental morphology Hypoplastic toenails Polyuria Loss of consciousness Open bite Hallux valgus Polycystic ovaries Abnormality of pelvic girdle bone morphology Recurrent otitis media Hemivertebrae Open mouth Mitral regurgitation Involuntary movements Gingival overgrowth Hoarse voice Narrow face Increased bone mineral density Pointed chin Abnormality of the fingernails Adducted thumb Spina bifida occulta Cutis laxa Abnormal dermatoglyphics Progressive hearing impairment Widely spaced teeth Sacral dimple Ischemic stroke Arnold-Chiari malformation Rieger anomaly Thickened skin Narrow naris Wormian bones Sparse hair Premature birth Nail dysplasia Convex nasal ridge Epidermal acanthosis Short phalanx of finger Acanthosis nigricans Abnormality of the preputium Hyperlipidemia Hypercholesterolemia Dermal atrophy Brittle hair Delayed cranial suture closure Short clavicles Retrognathia Pyridoxine-responsive sideroblastic anemia Narrow nose Hypoplastic anemia Low-grade fever Complete duplication of thumb phalanx Partial duplication of thumb phalanx Clubbing of toes Decreased fertility in males Chromosomal breakage induced by crosslinking agents Absent testis Aplasia/Hypoplasia of fingers Compensated hypothyroidism Prolonged G2 phase of cell cycle Anemic pallor Deficient excision of UV-induced pyrimidine dimers in DNA Neoplasm of head and neck Aplasia/Hypoplasia of the uvula Premature loss of teeth Osteolytic defects of the phalanges of the hand Duplicated collecting system Recurrent infections Loss of truncal subcutaneous adipose tissue Abnormal tongue morphology Decreased adipose tissue around neck Facial shape deformation Muscle weakness Splenomegaly Arrhythmia Increased subcutaneous truncal adipose tissue Hyperhidrosis Hepatosplenomegaly Elevated hepatic transaminase Arthritis Erythema Camptodactyly of finger Increased circulating free fatty acid level Reduced intrathoracic adipose tissue Hypoplastic fingernail Contractures of the large joints Hypoplasia of teeth Poor wound healing Abnormality of hair texture Narrow nasal ridge Loss of subcutaneous adipose tissue in limbs Mottled pigmentation Bird-like facies Prominent superficial blood vessels Osteolytic defects of the distal phalanges of the hand Loss of facial adipose tissue Increased adipose tissue around the neck Increased intraabdominal fat Acroosteolysis of distal phalanges (feet) Progressive clavicular acroosteolysis Meckel diverticulum Duodenal stenosis Lymphadenopathy Abnormal vertebral morphology Short palpebral fissure Abnormality of the genital system Aganglionic megacolon Telangiectasia Cafe-au-lait spot Short thumb Spina bifida Sloping forehead Bone marrow hypocellularity Horseshoe kidney Leukopenia Azoospermia Cranial nerve paralysis Renal hypoplasia/aplasia Pancytopenia Lymphoma Abnormality of vision Finger syndactyly Fatigue Headache Abnormality of cardiovascular system morphology Hypospadias Carcinoma Abnormality of the eye Toe syndactyly Neutropenia Abnormality of the foot Facial asymmetry Anal atresia Astigmatism Vertigo Bruising susceptibility Hypopigmented skin patches Abnormality of the urinary system Primary hypothyroidism Abnormality of femur morphology Abnormality of the upper limb Aplastic anemia Abnormality of the uterus Abnormality of the testis Abnormality of the thumb Bicornuate uterus Acute monocytic leukemia Arteriovenous malformation Abnormality of the hypothalamus-pituitary axis Abnormal aortic valve morphology Abnormal localization of kidney Abnormality of chromosome stability Reticulocytopenia Abnormal aortic morphology B-cell lymphoma Abnormality of the ulna Myelodysplasia Multiple cafe-au-lait spots Triphalangeal thumb Hypoplasia of the ulna Squamous cell carcinoma Ectopic kidney Hydroureter Absent thumb Acute myeloid leukemia Abnormal eyelid morphology Abnormality of blood and blood-forming tissues Absent radius Aplasia/Hypoplasia of the radius Irregular hyperpigmentation External ear malformation Hearing abnormality Skin rash Inability to walk Abnormal anterior chamber morphology Irregular vertebral endplates Anonychia Mixed hearing impairment Ankle clonus Sparse body hair Congenital hypothyroidism Hip contracture Thoracic kyphosis Bilateral cryptorchidism Progressive gait ataxia Broad face Dystrophic fingernails Tics Generalized osteoporosis Bone cyst Metatarsus adductus Melanocytic nevus Ectopic calcification Gynecomastia Neurodegeneration Hypoplasia of the maxilla Nevus Cerebral calcification Bradykinesia Sparse scalp hair Clonus Self-injurious behavior Paraparesis Knee flexion contracture Spastic paraparesis Osteolysis Plagiocephaly Abnormal palate morphology Recurrent ear infections Narrow iliac wings Distal amyotrophy Reduced subcutaneous adipose tissue Bilateral sensorineural hearing impairment Abnormality of the face Decreased body weight Congenital hip dislocation Prominent supraorbital ridges Congenital glaucoma Abnormality of the immune system Underdeveloped nasal alae Poor appetite Increased intraocular pressure Premature skin wrinkling Abnormal pupil morphology Dimple chin Excessive wrinkled skin Abnormality of the skin Triangular face Posterior polar cataract Increased size of the mandible Absent axillary hair Basilar impression Motor tics Torus palatinus Posterior scalloping of vertebral bodies Absent facial hair Calcification of the auricular cartilage Delayed eruption of teeth Superiorly displaced ears Low-set ears Brachydactyly Telecanthus Hypotrichosis Joint hypermobility Short distal phalanx of finger Narrow chest Prominent nose Visual loss Panniculitis Episcleritis Stiff skin Finger swelling Adipose tissue loss Blindness Reduced visual acuity Hypochromic anemia Rigidity Muscular hypotonia of the trunk Coloboma Falls Retinal detachment Dandy-Walker malformation Erythema nodosum Flexion contracture of toe Exotropia Increased antibody level in blood Hyperpigmentation of the skin Bone pain Lymphopenia Elbow flexion contracture Conjunctivitis Growth abnormality Long fingers Immune dysregulation Hypermelanotic macule Elevated erythrocyte sedimentation rate Microcytic anemia Rimmed vacuoles Myositis Clubbing of fingers Renal dysplasia Narrow palate Synophrys Downslanted palpebral fissures Aphakia Lumbar kyphosis Aplasia/Hypoplasia of the macula Hypoplasia of the antihelix Increased proinsulin:insulin ratio Peripheral neuropathy Areflexia Central hypothyroidism Pes cavus Brachycephaly Conductive hearing impairment Aggressive behavior Abnormal pyramidal sign Prominent nasal bridge Macular hypoplasia Lower limb hypertonia Optic nerve hypoplasia Aniridia Anosmia Bilateral ptosis Ectopia lentis Nephroblastoma Anophthalmia Hypopituitarism Limb hypertonia Ocular pain Hand tremor Action tremor Ectopia pupillae Hyposmia Peters anomaly Decreased light- and dark-adapted electroretinogram amplitude Atrophy/Degeneration involving the corticospinal tracts


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