Microcephaly, and Stage 5 chronic kidney disease

Diseases related with Microcephaly and Stage 5 chronic kidney disease

In the following list you will find some of the most common rare diseases related to Microcephaly and Stage 5 chronic kidney disease that can help you solving undiagnosed cases.


Top matches:

High match MITOCHONDRIAL DNA DEPLETION SYNDROME 11; MTDPS11

Mitochondrial DNA depletion syndrome-11 is an autosomal recessive mitochondrial disorder characterized by onset in childhood or adulthood of progressive external ophthalmoplegia (PEO), muscle weakness and atrophy, exercise intolerance, and respiratory insufficiency due to muscle weakness. More variable features include spinal deformity, emaciation, and cardiac abnormalities. Skeletal muscle biopsies show deletion and depletion of mitochondrial DNA (mtDNA) with variable defects in respiratory chain enzyme activities (summary by Kornblum et al., 2013).For a discussion of genetic heterogeneity of autosomal recessive mtDNA depletion syndromes, see MTDPS1 (OMIM ).

MITOCHONDRIAL DNA DEPLETION SYNDROME 11; MTDPS11 Is also known as ;mitochondrial dna maintenance syndrome due to mgme1 deficiency; peo-myopathy-emaciation syndrome; mtdna maintenance syndrome due to mgme1 deficiency

Related symptoms:

  • Autosomal recessive inheritance
  • Intellectual disability
  • Microcephaly
  • Ptosis
  • Muscle weakness


SOURCES: DOID MONDO ORPHANET UMLS OMIM

More info about MITOCHONDRIAL DNA DEPLETION SYNDROME 11; MTDPS11

High match OROFACIODIGITAL SYNDROME I; OFD1

Orofaciodigital syndrome type I (OFD1) is characterized by malformations of the face, oral cavity, and digits and is transmitted as an X-linked dominant condition with lethality in males (Ferrante et al., 2001). Thickened alveolar ridges and abnormal dentition, including absent lateral incisors, are additional characteristics of OFD1. The central nervous system may also be involved in as many as 40% of cases. Although these clinical features overlap those reported in other forms of orofaciodigital syndrome, OFD1 can be easily distinguished from among these by its X-linked dominant inheritance pattern and by polycystic kidney disease, which seems to be specific to type I.Since the CXORF5 gene localizes to the centrosome and basal body of primary cilia, OFD1 is considered to be a ciliopathy (Chetty-John et al., 2010).

OROFACIODIGITAL SYNDROME I; OFD1 Is also known as oral-facial-digital syndrome, type i, ofds i, papillon-leage and psaume syndrome

Related symptoms:

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


SOURCES: OMIM

More info about OROFACIODIGITAL SYNDROME I; OFD1

High match CRANIOECTODERMAL DYSPLASIA 1; CED1

Cranioectodermal dysplasia (CED), also known as Sensenbrenner syndrome, is an autosomal recessive disorder characterized by sagittal craniosynostosis and facial, ectodermal, and skeletal anomalies (summary by Gilissen et al., 2010). Genetic Heterogeneity of Cranioectodermal DysplasiaCranioectodermal dysplasia-2 (CED2 ) is caused by mutation in the WDR35 gene (OMIM ) on chromosome 2p24; CED3 (OMIM ) is caused by mutation in the IFT43 gene (OMIM ) on chromosome 14q24; and CED4 (OMIM ), is caused by mutation in the WDR19 gene (OMIM ) on chromosome 4p14.

CRANIOECTODERMAL DYSPLASIA 1; CED1 Is also known as sensenbrenner syndrome, levin syndrome i;ced; sensenbrenner syndrome

Related symptoms:

  • Autosomal recessive inheritance
  • Global developmental delay
  • Generalized hypotonia
  • Pica
  • Microcephaly


SOURCES: SCTID MONDO ORPHANET UMLS OMIM

More info about CRANIOECTODERMAL DYSPLASIA 1; CED1

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High match SHORT-RIB THORACIC DYSPLASIA 9 WITH OR WITHOUT POLYDACTYLY; SRTD9

Short-rib thoracic dysplasia (SRTD) with or without polydactyly refers to a group of autosomal recessive skeletal ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. SRTD encompasses Ellis-van Creveld syndrome (EVC) and the disorders previously designated as Jeune syndrome or asphyxiating thoracic dystrophy (ATD), short rib-polydactyly syndrome (SRPS), and Mainzer-Saldino syndrome (MZSDS). Polydactyly is variably present, and there is phenotypic overlap in the various forms of SRTDs, which differ by visceral malformation and metaphyseal appearance. Nonskeletal involvement can include cleft lip/palate as well as anomalies of major organs such as the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of SRTD are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life (summary by Huber and Cormier-Daire, 2012 and Schmidts et al., 2013).There is phenotypic overlap with the cranioectodermal dysplasias (Sensenbrenner syndrome; see CED1, {218330}).For a discussion of genetic heterogeneity of short-rib thoracic dysplasia, see SRTD1 (OMIM ).

SHORT-RIB THORACIC DYSPLASIA 9 WITH OR WITHOUT POLYDACTYLY; SRTD9 Is also known as mainzer-saldino syndrome;mzsds, conorenal syndrome, renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia, and skeletal dysplasia;conorenal syndrome; renal dysplasia-retinal pigmentary dystrophy-cerebellar ataxia-skeletal dysplasia syndrome

Related symptoms:

  • Autosomal recessive inheritance
  • Seizures
  • Global developmental delay
  • Short stature
  • Pica


SOURCES: DOID OMIM SCTID ORPHANET MONDO UMLS

More info about SHORT-RIB THORACIC DYSPLASIA 9 WITH OR WITHOUT POLYDACTYLY; SRTD9

Medium match AMME COMPLEX

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AMME COMPLEX Is also known as alport syndrome, mental retardation, midface hypoplasia, and elliptocytosis, ats-mr, chromosome xq22.3 telomeric deletion syndrome;amme complex; amme syndrome; ats-mr

Related symptoms:

  • Intellectual disability
  • Hearing impairment
  • Strabismus
  • Sensorineural hearing impairment
  • Muscular hypotonia


SOURCES: UMLS OMIM ORPHANET SCTID

More info about AMME COMPLEX

Medium match CRANIOECTODERMAL DYSPLASIA 3; CED3

Cranioectodermal dysplasia (CED), also known as Sensenbrenner syndrome, is a rare autosomal recessive heterogeneous ciliopathy that is primarily characterized by skeletal abnormalities, including craniosynostosis, narrow rib cage, short limbs, and brachydactyly, and ectodermal defects. Nephronophthisis leading to progressive renal failure, hepatic fibrosis, heart defects, and retinitis pigmentosa have also been described (summary by Arts et al., 2011).For discussion of genetic heterogeneity of cranioectodermal dysplasia, see CED1 (OMIM ).

Related symptoms:

  • Autosomal recessive inheritance
  • Short stature
  • Pica
  • Micrognathia
  • Brachydactyly


SOURCES: UMLS MONDO OMIM

More info about CRANIOECTODERMAL DYSPLASIA 3; CED3

Medium match COACH SYNDROME

COACH syndrome is an autosomal recessive disorder characterized by mental retardation, ataxia due to cerebellar hypoplasia, and hepatic fibrosis. Other features, such as coloboma and renal cysts, may be variable. COACH syndrome is considered by some to be a subtype of Joubert syndrome (JBTS; see {213300}) with congenital hepatic fibrosis. Identification of liver disease in these patients is critical because some may develop complications such as portal hypertension with fatal variceal bleeding (Brancati et al., 2009; Doherty et al., 2010).

COACH SYNDROME Is also known as cerebellar vermis hypo/aplasia, oligophrenia, congenital ataxia, ocular coloboma, and hepatic fibrosis, joubert syndrome with congenital hepatic fibrosis;coach syndrome; cerebellar vermis hypoplasia-oligophrenia-congenital ataxia-coloboma-hepatic fibrosis; gentile syndrome; js-h; joubert syndrome with congenital hepatic fibrosis

Related symptoms:

  • Autosomal recessive inheritance
  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia


SOURCES: GARD ORPHANET MONDO SCTID OMIM MESH UMLS

More info about COACH SYNDROME

Medium match MITOCHONDRIAL COMPLEX I DEFICIENCY

Isolated complex I deficiency is the most common enzymatic defect of the oxidative phosphorylation disorders (McFarland et al., 2004; Kirby et al., 2004). It causes a wide range of clinical disorders, ranging from lethal neonatal disease to adult-onset neurodegenerative disorders. Phenotypes include macrocephaly with progressive leukodystrophy, nonspecific encephalopathy, hypertrophic cardiomyopathy, myopathy, liver disease, Leigh syndrome (OMIM ), Leber hereditary optic neuropathy (OMIM ), and some forms of Parkinson disease (see {556500}) (Loeffen et al., 2000; Pitkanen et al., 1996; Robinson, 1998). Genetic Heterogeneity of Complex I DeficiencyMitochondrial complex I deficiency shows extreme genetic heterogeneity and can be caused by mutation in nuclear-encoded genes or in mitochondrial-encoded genes. There are no obvious genotype-phenotype correlations, and inference of the underlying basis from the clinical or biochemical presentation is difficult, if not impossible (summary by Haack et al., 2012). However, the majority of cases are caused by mutations in nuclear-encoded genes (Loeffen et al., 2000; Triepels et al., 2001).Complex I deficiency with autosomal recessive inheritance results from mutation in nuclear-encoded subunit genes, including NDUFV1 (OMIM ), NDUFV2 (OMIM ), NDUFS1 (OMIM ), NDUFS2 (OMIM ), NDUFS3 (OMIM ), NDUFS4 (OMIM ), NDUFS6 (OMIM ), NDUFS7 (OMIM ), NDUFS8 (OMIM ), NDUFA2 (OMIM ), NDUFA11 (OMIM ), NDUFAF3 (OMIM ), NDUFA10 (OMIM ), NDUFB3 (OMIM ), NDUFB9 (OMIM ), and the complex I assembly genes B17.2L (OMIM ), HRPAP20 (OMIM ), C20ORF7 (OMIM ), NUBPL (OMIM ), NDUFAF1 (OMIM ), TMEM126B (OMIM ), TIMMDC1 (OMIM ), and NDUFA13 (OMIM ). The disorder can also be caused by mutation in other nuclear-encoded genes, including FOXRED1 (OMIM ), ACAD9 ({611103}; see {611126}), and MTFMT ({611766}; see {256000}).X-linked inheritance is observed with mutations in the NDUFA1 (OMIM ) and NDUFB11 (OMIM ) genes.Complex I deficiency with mitochondrial inheritance has been associated with mutation in 6 mitochondrial-encoded components of complex I: MTND1 (OMIM ), MTND2 (OMIM ), MTND3 (OMIM ), MTND4 (OMIM ), MTND5 (OMIM ), MTND6 (OMIM ). Most of these patients have a phenotype of Leber hereditary optic neuropathy (LHON ) or Leigh syndrome (OMIM ). Features of complex I deficiency may also be caused by mutation in other mitochondrial genes, including MTTS2 (OMIM ).

MITOCHONDRIAL COMPLEX I DEFICIENCY Is also known as nadh:q(1) oxidoreductase deficiency, nadh-coenzyme q reductase deficiency, mitochondrial nadh dehydrogenase component of complex i, deficiency of;isolated nadh-coq reductase deficiency; isolated nadh-coenzyme q reductase deficiency; isolated nadh-ubiquinone reductase deficiency; isolated mitochondrial respiratory chain complex i deficiency

Related symptoms:

  • Autosomal recessive inheritance
  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia


SOURCES: OMIM MESH UMLS ORPHANET DOID GARD MONDO

More info about MITOCHONDRIAL COMPLEX I DEFICIENCY

Medium match ARIMA SYNDROME

Arima syndrome is an autosomal recessive disorder characterized by agenesis of the cerebellar vermis, ocular abnormalities, cystic kidney disease, and, in some cases, liver disease. It shares phenotypic features with Joubert syndrome (see {213300}), COACH syndrome (OMIM ), and familial juvenile nephronophthisis (see {256100}).

ARIMA SYNDROME Is also known as dekaban-arima syndrome, joubert syndrome with bilateral chorioretinal coloboma, coloboma, chorioretinal, with cerebellar vermis aplasia, cerebrooculohepatorenal syndrome;arima syndrome; cors; cerebellooculorenal syndrome; dekaban-arima syndrome; js type b; js-or; joubert syndrome with senior-loken syndrome

Related symptoms:

  • Autosomal recessive inheritance
  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia


SOURCES: OMIM ORPHANET UMLS SCTID

More info about ARIMA SYNDROME

Medium match CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT SYNDROME WITH OR WITHOUT HEARING LOSS, ABNORMAL EARS, OR DEVELOPMENTAL DELAY; CAKUTHED

CAKUTHED is an autosomal dominant syndromic disorder characterized mainly by variable congenital anomalies of the kidney and urinary tract, sometimes resulting in renal dysfunction or failure, dysmorphic facial features, and abnormalities of the outer ear. Most patients have hearing loss, and some may have global developmental delay (summary by Heidet et al., 2017).

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Microcephaly
  • Scoliosis


SOURCES: OMIM

More info about CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT SYNDROME WITH OR WITHOUT HEARING LOSS, ABNORMAL EARS, OR DEVELOPMENTAL DELAY; CAKUTHED

Top 5 symptoms//phenotypes associated to Microcephaly and Stage 5 chronic kidney disease

Symptoms // Phenotype % cases
Renal insufficiency Very Common - Between 80% and 100% cases
Autosomal recessive inheritance Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Frontal bossing Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Microcephaly and Stage 5 chronic kidney disease. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Pica Seizures Hepatic fibrosis Anteverted nares Strabismus Hepatomegaly Generalized hypotonia Growth delay Nystagmus Hearing impairment Abnormality of the kidney Hypertelorism Micrognathia Polydactyly Nephronophthisis Muscular hypotonia Macrocephaly Brachydactyly Ataxia Abnormal facial shape Nephropathy Ptosis Scoliosis Wide nasal bridge Visual impairment Retinal dystrophy Renal cyst Anemia Abnormality of cardiovascular system morphology Hydrocephalus Cutis laxa Wide mouth Epicanthus Chronic kidney disease Widely spaced teeth Agenesis of corpus callosum Downslanted palpebral fissures Motor delay Sparse hair Short stature Telecanthus Apnea Oxycephaly Hernia Intellectual disability, severe Respiratory failure Congestive heart failure Postaxial polydactyly Respiratory insufficiency Cholestasis Postaxial hand polydactyly

Rare Symptoms - Less than 30% cases


Inguinal hernia Short thorax Scaphocephaly High forehead Joint laxity Craniosynostosis Everted lower lip vermilion Narrow chest Short distal phalanx of finger Prominent nasal bridge Hepatic failure Ectodermal dysplasia Abnormality of the metaphysis Fine hair Short ribs Myopia Rhizomelia Pneumonia Sagittal craniosynostosis Dystonia Aplasia/Hypoplasia of the corpus callosum Cirrhosis Encephalocele Cerebellar vermis hypoplasia Spasticity Hyperreflexia Abnormality of eye movement Molar tooth sign on MRI Dilatation Highly arched eyebrow Iris coloboma Feeding difficulties in infancy Abnormality of the nervous system Abnormality of the eye Chorioretinal coloboma Abnormality of neuronal migration Hepatic steatosis Blindness Short nail Depressed nasal bridge Infantile onset Hypoplasia of the corpus callosum Pancreatic cysts Renal dysplasia Nephritis Biparietal narrowing Wide anterior fontanel Congenital hepatic fibrosis Aplasia/Hypoplasia of the cerebellar vermis Sensorineural hearing impairment Abnormality of the hypothalamus-pituitary axis Patent ductus arteriosus Hepatic cysts Long face High palate Proteinuria Dyspnea Increased number of teeth Clinodactyly Milia Polycystic kidney dysplasia Radial deviation of finger Autistic behavior Low-set ears Hypoplasia of dental enamel X-linked dominant inheritance Oral cleft Scarring Abnormal cerebellum morphology Hypertension Exercise intolerance Proximal muscle weakness Limb muscle weakness Cerebellar atrophy Hyporeflexia Cardiomyopathy Tremor Syndactyly Depressivity Cerebellar hypoplasia Dysphagia Muscle weakness Skeletal muscle atrophy Myopathy Talipes equinovarus Occipital meningocele Myoclonus Edema Atrial septal defect Tics Optic atrophy Intrauterine growth retardation Pain Feeding difficulties Cryptorchidism Brainstem dysplasia Dilated fourth ventricle Renal corticomedullary cysts Kyphoscoliosis Areflexia Encephalopathy Acidosis Respiratory distress Vomiting Fatigue Failure to thrive Myalgia Coma Agenesis of cerebellar vermis Muscular hypotonia of the trunk Tubulointerstitial fibrosis Hypoglycemia Babinski sign Peripheral neuropathy Oral-pharyngeal dysphagia Intrahepatic biliary atresia Abnormality of the urinary system Aplasia/Hypoplasia of the cerebellum Oculomotor apraxia Spina bifida occulta Spina bifida Multicystic kidney dysplasia Deep philtrum Intestinal malrotation Cephalocele Apraxia Ectopic kidney Gastrointestinal hemorrhage Round face Hyperechogenic kidneys Urethral valve Bifid ureter Portal hypertension Horseshoe kidney Multiple small medullary renal cysts Abnormal cardiac septum morphology Chronic hepatic failure Delayed speech and language development Abnormal pattern of respiration Cholestatic liver disease Polyhydramnios Autism Thin upper lip vermilion Vesicoureteral reflux Retinal coloboma Oligohydramnios Renal hypoplasia Esophageal varix Optic nerve coloboma Abnormality of abdomen morphology Occipital encephalocele Narrow face Neoplasm of the liver Postaxial foot polydactyly Tubular atrophy Shock Abnormal mitochondria in muscle tissue Weak cry Poor eye contact Progressive spasticity Acute necrotizing encephalopathy Pericardial effusion Basal ganglia calcification Behavioral abnormality Congenital lactic acidosis Low-set, posteriorly rotated ears Adrenal insufficiency Incoordination Cardiac arrest Aspiration Leukoencephalopathy Pancreatitis Left ventricular hypertrophy Mitochondrial myopathy Optic neuropathy Aganglionic megacolon Mitochondrial inheritance Cerebral edema Aspiration pneumonia Increased CSF lactate Respiratory arrest Corpus callosum atrophy Severe lactic acidosis Cardiorespiratory arrest Nemaline bodies Axial dystonia Necrotizing encephalopathy Stiff neck Macrovesicular hepatic steatosis Biventricular hypertrophy Infantile encephalopathy Cardiogenic shock Progressive macrocephaly Progressive encephalopathy Renal tubular acidosis Leukodystrophy Horizontal nystagmus Abnormal pyramidal sign Pallor Polyuria Stroke Lethargy Lactic acidosis Talipes Abnormality of movement Severe global developmental delay Irritability Gliosis Developmental regression Clonus Mental deterioration Foot polydactyly Acute pancreatitis Hypertrophic cardiomyopathy Retinopathy Undetectable electroretinogram Metabolic acidosis Dyskinesia Heterotopia Pigmentary retinopathy Cardiomegaly Cyanosis Intellectual disability, progressive Coarctation of aorta Hand polydactyly Optic disc pallor Ventricular hypertrophy Polydipsia Tachypnea Premature birth Congenital diaphragmatic hernia Progressive cerebellar ataxia Migraine Febrile seizures Generalized myoclonic seizures Brain atrophy Hypoplasia of the brainstem Increased serum lactate Global brain atrophy Trigonocephaly Abnormality of the liver Narrow naris Abnormality of toe Multiple glomerular cysts Gray matter heterotopias Hypothalamic hamartoma Tongue nodules Alveolar ridge overgrowth Lobulated tongue Porencephalic cyst Abnormality of the dentition Bifid tongue Deviation of finger Dry hair Abnormality of the pancreas Abnormal cortical gyration Myelomeningocele Agenesis of permanent teeth Median cleft lip Trident hand Pectus excavatum Ovarian cyst Hypodontia Abnormality of the fingernails Abnormality of dental enamel Short toe Omphalocele Limb undergrowth Microdontia Hypotelorism Full cheeks High, narrow palate Clinodactyly of the 5th finger Single transverse palmar crease Joint hyperflexibility Dolichocephaly Finger syndactyly Postnatal growth retardation Protruding ear Photophobia Osteoporosis Arachnoid cyst Meningocele Bicuspid aortic valve Ophthalmoplegia Dysphonia Nasal speech External ophthalmoplegia Nausea Hypergonadotropic hypogonadism Primary amenorrhea Amenorrhea Generalized muscle weakness Dilated cardiomyopathy Generalized amyotrophy Facial palsy Hypogonadism Progressive Recurrent infections Elevated serum creatine phosphokinase Arrhythmia Diarrhea Kyphosis Easy fatigability Spinal rigidity Atrioventricular canal defect Cleft lip Hamartoma Cutaneous syndactyly Microretrognathia Underdeveloped nasal alae Bifid uvula Abnormality of the cerebral white matter Carious teeth Facial asymmetry Ranula Proximal amyotrophy Abnormal heart morphology Alopecia Congenital onset Ventricular septal defect Dysarthria Cleft palate Spinal deformities Progressive external ophthalmoplegia Hypocalcemia Redundant skin Coloboma Accessory oral frenulum Tapered finger Thin vermilion border Midface retrusion Malar flattening Absence of renal corticomedullary differentiation Short proximal phalanx of finger Aplasia of the middle phalanx of the hand Pyelonephritis Hematuria Frontal upsweep of hair Cholangitis Hypoplasia of the capital femoral epiphysis Recurrent lower respiratory tract infections Acute kidney injury Prominent metopic ridge Abnormal retinal morphology Cone-shaped epiphysis Thick vermilion border Abnormality of the hair Recurrent urinary tract infections Peripheral pulmonary artery stenosis Intellectual disability, moderate Elevated hepatic transaminase Heterogeneous Gait disturbance Splenomegaly Bilateral postaxial polydactyly Broad nail Hypoplasia of teeth Sandal gap Glomerulopathy Dry skin Pulmonic stenosis Toe syndactyly Erythrocyte cylindruria Craniopharyngioma Abnormal aortic valve morphology Elliptocytosis Microscopic hematuria Short femoral neck Exotropia Abnormality of dental morphology Abnormal toenail morphology Thin nail Interstitial pneumonitis Flattened epiphysis Abnormality of the abdominal wall Abnormal diaphysis morphology Slow-growing hair Anodontia Tubulointerstitial nephritis Elevated serum creatinine Tubulointerstitial abnormality Protuberant abdomen Taurodontia High hypermetropia Fibular hypoplasia Short humerus Thoracic hypoplasia Prominent occiput Cupped ear Broad toe Renal magnesium wasting Short phalanx of finger Umbilical hernia Sparse scalp hair Narrow forehead Macroglossia Delayed eruption of teeth Abnormality of skin pigmentation Smooth philtrum Retinal degeneration Skeletal dysplasia Visual loss Incisional hernia Posteriorly rotated ears Upslanted palpebral fissure Rod-cone dystrophy Short neck Cognitive impairment Cataract Malformation of the hepatic ductal plate Broad distal phalanges of all fingers Decreased numbers of nephrons



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Other signs and symptoms that you may find interesting

Intellectual disability, severe and Oral cleft, related diseases and genetic alterations Brachydactyly and Increased body weight, related diseases and genetic alterations Edema and Patent ductus arteriosus, related diseases and genetic alterations Myopathy and Lymphadenopathy, related diseases and genetic alterations Myopathy and Neonatal hypotonia, related diseases and genetic alterations Pain and Wide intermamillary distance, related diseases and genetic alterations